ClinVar Miner

Variants with conflicting interpretations studied for not provided

Coded as:
Minimum review status of the submission for not provided: Collection method of the submission for not provided:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any conflict
1067088 257105 75 61138 46534 578 9134 109999

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

All conditions
not provided pathogenic likely pathogenic uncertain significance likely benign benign affects association drug response protective other
pathogenic 67 9307 2895 118 79 2 6 70 2 108
likely pathogenic 8190 5 5186 182 55 0 2 29 2 55
uncertain significance 2621 4666 3 35172 7500 18 11 28 2 140
likely benign 197 256 29484 0 40271 7 9 36 4 98
benign 187 105 5853 37950 0 14 28 68 14 46
affects 0 0 1 0 0 0 0 0 0 0
association 1 1 3 3 2 0 0 0 0 1
other 28 12 25 46 39 0 3 22 1 0

Condition to condition summary #

Total conditions: 5818
Download table as spreadsheet
Condition Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any conflict
not provided 1189768 182675 9 34570 24505 71 5105 61749
not specified 0 78805 6 31260 21366 44 2309 51368
Cardiovascular phenotype 0 19195 0 3770 5732 6 782 9829
Hereditary nonpolyposis colorectal neoplasms 0 2750 0 655 1483 1 128 2166
Breast and/or ovarian cancer 0 825 1 530 354 1 46 847
Spastic paraplegia 0 992 0 393 429 1 48 845
RYR1-related disorder 0 1287 0 246 254 0 155 608
See cases 0 707 3 281 170 4 135 559
Malignant hyperthermia, susceptibility to, 1 0 1119 13 142 232 0 177 523
TTN-related disorder 0 399 0 182 360 0 18 521
Hereditary cancer 0 56 0 24 251 1 4 260
Rare genetic deafness 0 312 0 196 3 0 44 227
RAI1-related disorder 0 270 0 77 150 0 2 218
Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 0 243 0 44 148 0 9 198
Tip-toe gait 0 24 0 33 25 0 145 190
ABCA4-related disorder 0 85 3 93 92 1 28 187
BRCA2-related disorder 0 263 0 85 89 0 9 162
KMT2D-related disorder 0 145 0 83 94 0 4 161
PLEC-related disorder 0 103 0 29 133 0 0 157
Hereditary hyperinsulinism 0 106 0 58 76 0 11 140
FLNB-Related Spectrum Disorders 0 50 0 40 100 0 0 136
PIEZO1-related disorder 0 88 0 55 83 0 2 126
PKD1-related disorder 0 206 0 77 38 0 20 125
PCNT-related disorder 0 645 0 51 70 0 6 123
PKHD1-related disorder 0 123 0 26 84 0 15 119
POLG-related disorder 0 106 0 39 67 0 23 115
Epidermolysis bullosa dystrophica inversa, autosomal recessive 0 82 0 15 99 0 2 113
Epileptic encephalopathy 0 338 0 75 33 1 7 111
PRPH2-related disorder 0 101 0 59 12 0 39 105
ADGRV1-related disorder 0 53 0 46 71 0 1 104
Malignant hyperthermia, susceptibility to, 5 0 346 1 44 40 0 15 97
CREBBP-related disorder 0 86 0 46 56 0 0 95
SYNE1-related disorder 0 64 0 40 61 0 0 95
WFS1-Related Spectrum Disorders 0 71 0 42 52 0 1 93
ATM-related disorder 0 194 0 32 61 0 4 89
USH2A-related disorder 0 83 0 52 37 0 12 89
TSC2-related disorder 0 136 0 45 49 0 2 88
Autosomal recessive retinitis pigmentosa 0 119 0 32 42 0 12 82
ARID1B-Related Disorder 0 68 0 67 16 0 2 81
Congenital muscular dystrophy due to partial LAMA2 deficiency 0 74 0 23 56 0 2 81
GLUT1 deficiency syndrome 1, autosomal recessive 0 167 0 31 37 0 19 80
EP300-related disorder 0 93 0 45 35 0 0 77
POLE-related disorder 0 194 0 30 46 0 5 75
Nephrolithiasis/nephrocalcinosis 0 118 0 27 41 0 8 74
Inherited breast cancer and ovarian cancer 0 163 0 36 28 0 15 73
Spherocytosis 0 32 0 13 60 0 0 73
VPS13B-related disorder 0 164 0 15 58 0 0 73
MSH6-related disorder 0 101 0 32 44 0 1 72
Monogenic hearing loss 0 70 1 50 2 0 27 72
Seizure 0 117 0 37 14 1 24 72
BRCA1-related disorder 0 117 0 50 31 0 3 71
Charcot-Marie-Tooth Neuropathy X 0 82 0 39 10 0 22 71
APC-related disorder 0 126 0 30 47 0 2 68
Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Congenital multicore myopathy with external ophthalmoplegia; Congenital myopathy with fiber type disproportion; King Denborough syndrome 0 294 0 37 19 0 15 68
HSPG2-related disorder 0 37 0 42 33 0 0 68
CACNA1A-related disorder 0 62 0 39 33 0 6 67
LRP2-related disorder 0 83 0 38 35 0 0 67
MECP2-related disorder 0 80 0 33 34 0 3 66
LAMA5-related disorder 0 166 0 55 11 0 0 65
APC-Associated Polyposis Disorders 0 47 0 29 39 0 0 63
CFI-related disorder 0 53 4 27 5 0 33 62
MYO7A-related disorder 0 83 0 23 39 0 6 62
COL11A2-related disorder 0 58 0 19 45 0 1 61
FRAS1-related disorder 0 97 0 33 35 0 0 61
History of neurodevelopmental disorder 0 46 0 33 26 0 5 61
NEB-related disorder 0 55 0 17 46 0 1 61
COL11A1-related disorder 0 55 0 25 39 0 2 60
Hirschsprung disease, susceptibility to, 1 0 144 0 30 26 0 11 60
COL2A1-related disorder 0 71 0 20 37 0 4 59
ZNF469-related disorder 0 89 0 31 31 0 0 57
ABCB11-related disorder 0 59 0 20 38 0 4 55
ANKRD11-related disorder 0 45 0 49 5 0 1 55
CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II 0 45 0 28 28 0 1 55
COL7A1-related disorder 0 92 0 29 25 0 6 55
FAT4-related disorder 0 84 0 36 22 0 0 55
NOTCH3-related disorder 0 38 0 35 21 0 3 55
NPHP4-related disorder 0 51 0 3 52 0 1 55
DMD-related disorder 0 22 0 29 31 0 0 54
Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 0 94 0 33 19 0 2 54
Hemolytic uremic syndrome, atypical, susceptibility to, 1 0 109 2 31 18 0 5 54
CHD7-related disorder 0 67 0 29 29 0 3 53
COL6A3-related disorder 0 38 0 19 35 0 1 53
MACF1-related disorder 0 46 0 45 10 0 0 53
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES 0 31 0 43 1 2 16 53
CDH23-related disorder 0 76 0 28 25 0 1 52
ARID1A-related disorder 0 32 0 35 16 0 2 51
ABCC2-related disorder 0 86 0 25 26 0 3 50
ABCG8-related disorder 0 32 0 18 37 1 2 49
Corticosterone methyl oxidase type II deficiency 0 40 0 26 22 0 1 49
Intellectual disability, CASK-related, X-linked 0 67 0 21 28 0 5 49
MYO15A-related disorder 0 40 0 31 20 0 4 49
NOTCH2-related disorder 0 31 0 14 37 0 0 49
OBSCN-related disorder 0 149 0 43 6 0 1 49
CC2D2A-related disorder 0 36 0 17 29 0 5 48
DYSF-related disorder 0 23 0 11 34 0 5 48
FAT1-related disorder 0 77 0 28 21 0 0 48
Fetal anomalies with a likely genetic cause 0 42 0 27 4 2 21 48
Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency 0 118 0 35 14 0 1 48
Plasma factor XI deficiency 0 62 0 27 14 0 7 48
COL4A4-related disorder 0 51 0 22 14 0 17 47
PHIP-related disorder 0 110 0 16 31 0 0 47
FBN3-related disorder 0 113 0 41 6 0 0 46
COL4A3-related disorder 0 44 0 21 14 0 16 45
LZTR1-related disorder 0 76 0 27 12 0 11 45
Macular dystrophy 0 15 1 38 2 0 12 45
NF1-related disorder 0 153 0 20 26 0 2 45
OTOG-related disorder 0 56 0 21 26 0 0 45
Anophthalmia-microphthalmia syndrome 0 45 0 13 29 1 4 44
CEP290-related disorder 0 120 0 16 28 0 2 44
FGFR2-related craniosynostosis 0 97 0 30 12 0 2 44
FLNB-related disorder 0 48 0 18 28 0 0 44
ABCB4-related disorder 0 61 0 15 23 0 7 43
FLNC-related disorder 0 54 0 27 21 0 2 43
KCNQ1-related disorder 0 45 0 40 3 0 0 43
KMT2A-related disorder 0 54 0 32 11 0 0 43
MSH2-related disorder 0 82 0 10 32 0 2 43
PTCH1-related disorder 0 60 0 19 25 0 1 43
SETX-related disorder 0 77 0 19 28 0 1 43
SMARCA4-related disorder 0 76 0 27 15 0 1 43
ANKRD26-related disorder 0 43 0 22 24 0 0 42
COL6A2-related disorder 0 26 0 9 34 0 0 42
Disorders of Intracellular Cobalamin Metabolism 0 129 0 27 15 0 0 42
FLNA-related disorder 0 87 0 18 28 0 1 42
Isolated Nonsyndromic Congenital Heart Disease 0 20 0 29 18 0 0 42
NSD1-related disorder 0 36 0 28 23 0 0 42
CDH1-related disorder 0 42 0 20 22 0 1 40
COL4A5-related disorder 0 25 0 35 8 0 1 40
FBN1-related disorder 0 63 0 24 16 0 4 40
GNAS-related disorder 0 90 0 16 21 0 4 40
MYBPC3-related disorder 0 47 0 25 13 0 5 40
Microvascular complications of diabetes, susceptibility to, 3; Hemorrhage, intracerebral, susceptibility to; Renal tubular dysgenesis of genetic origin 0 63 0 24 14 0 5 40
PCDH15-related disorder 0 31 0 20 22 0 1 40
SCN5A-related disorder 0 61 0 29 8 0 8 40
TJP2-related disorder 0 34 0 12 31 0 2 40
COL18A1-related disorder 0 109 0 21 19 0 1 39
MYH7-related disorder 0 60 0 22 9 0 11 39
NPC1-related disorder 0 39 0 9 27 0 4 39
TP53-related disorder 0 52 0 25 16 0 1 39
DNAH9-related disorder 0 120 0 31 7 0 0 38
EGFR-related lung cancer 0 102 0 26 12 0 2 38
Idiopathic generalized epilepsy; Epilepsy, idiopathic generalized, susceptibility to, 13; Epilepsy, childhood absence 4 0 57 0 13 12 0 16 38
Inherited ovarian cancer (without breast cancer) 0 74 0 26 11 0 5 38
KAT6A-related disorder 0 10 0 33 7 0 0 38
PMS2-related disorder 0 69 0 15 21 0 4 38
Thyrotoxic periodic paralysis, susceptibility to, 1 0 141 0 30 5 0 4 38
AHDC1-related disorder 0 35 0 32 6 0 0 37
KMT2C-related disorder 0 46 0 33 5 0 0 37
LRP5-related disorder 0 76 0 14 23 0 3 37
NOTCH1-related disorder 0 97 0 23 16 0 1 37
Neurodevelopmental delay 0 59 0 24 4 0 11 37
RELN-related disorder 0 22 0 15 23 0 0 37
TRIOBP-related disorder 0 19 0 25 13 0 0 37
COL4A2-related disorder 0 42 0 22 12 0 2 36
DOCK6-related disorder 0 43 0 25 12 0 0 36
MTOR-related disorder 0 40 0 28 7 0 1 36
PALB2-related disorder 0 112 0 13 23 0 0 36
TNXB-related disorder 0 49 0 22 15 0 1 36
ANK2-related disorder 0 32 0 27 7 0 3 35
ASPM-related disorder 0 26 0 26 15 0 0 35
AUTS2-related disorder 0 19 0 27 10 0 1 35
SETBP1-related disorder 0 37 0 23 12 0 1 35
FREM2-related disorder 0 60 0 16 23 0 0 34
HIVEP2-related disorder 0 33 0 30 4 0 0 34
OCA2-related disorder 0 29 0 23 6 0 14 34
POLD1-related disorder 0 88 0 22 15 0 0 34
AXIN2-related disorder 0 45 0 13 21 0 0 33
DYNC1H1-related disorder 0 51 0 25 6 0 3 33
MYH3-related disorder 0 37 0 25 8 0 5 33
NBAS-related disorder 0 42 0 20 12 0 1 33
SON-related disorder 0 44 0 22 11 0 0 33
Abnormality of the musculature 0 39 0 26 0 0 9 32
BLOOD GROUP--SWANN SYSTEM; BLOOD GROUP--WALDNER TYPE; BLOOD GROUP--FROESE; BLOOD GROUP--WRIGHT ANTIGEN; Southeast Asian ovalocytosis; Hereditary spherocytosis type 4; BLOOD GROUP--DIEGO SYSTEM; Cryohydrocytosis; Autosomal dominant distal renal tubular acidosis; Renal tubular acidosis, distal, 4, with hemolytic anemia; Malaria, susceptibility to 0 71 0 13 19 0 0 32
CRB2-related disorder 0 33 0 18 16 0 0 32
GAA-related disorder 0 29 0 12 17 0 7 32
LOXHD1-related disorder 0 29 0 15 18 0 1 32
OTOGL-related disorder 0 26 0 19 17 0 1 32
RNF213-related disorder 0 33 0 29 5 0 0 32
SMPD1-related disorder 0 25 0 6 24 0 2 32
desflurane response - Toxicity 0 8 0 0 0 32 0 32
enflurane response - Toxicity 0 8 0 0 0 32 0 32
halothane response - Toxicity 0 8 0 0 0 32 0 32
isoflurane response - Toxicity 0 8 0 0 0 32 0 32
methoxyflurane response - Toxicity 0 8 0 0 0 32 0 32
sevoflurane response - Toxicity 0 8 0 0 0 32 0 32
succinylcholine response - Toxicity 0 8 0 0 0 32 0 32
ALPL-related disorder 0 31 0 22 5 0 6 31
Absence seizure; Myoclonic epilepsy, juvenile, susceptibility to, 1 0 27 0 15 17 0 0 31
BRIP1-related disorder 0 73 0 18 12 0 3 31
CHD8-related disorder 0 21 0 24 10 0 1 31
EHHADH-related disorder 0 12 0 4 28 0 0 31
FANCM-related disorder 0 51 0 10 22 0 1 31
LAMA2-related disorder 0 30 0 8 23 0 1 31
SYNE2-related disorder 0 36 0 16 20 0 0 31
DCHS1-related disorder 0 62 0 18 13 0 0 30
Global developmental delay 0 31 0 23 6 1 6 30
KMT2B-related disorder 0 23 0 21 9 0 0 30
Lethal congenital contractural syndrome Finnish type 0 20 0 25 6 0 0 30
MLH1-related disorder 0 58 0 15 14 0 4 30
OTOF-related disorder 0 31 0 16 16 0 0 30
RYR2-related disorder 0 35 0 17 16 0 0 30
SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN 0 63 0 27 0 2 2 30
TSC1-related disorder 0 43 0 11 26 0 0 30
ANO5-Related Muscle Diseases 0 38 0 18 11 0 3 29
HUWE1-related disorder 0 24 0 27 5 0 0 29
KIDINS220-related disorder 0 212 0 11 18 0 0 29
LONP1-related disorder 0 24 0 21 8 0 2 29
Left ventricular noncompaction cardiomyopathy 0 24 0 11 10 0 10 29
MKS1-related disorder 0 61 0 6 19 0 5 29
MSH3-related disorder 0 77 0 13 20 0 0 29
MYH14-related disorder 0 23 0 19 10 0 2 29
Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections 0 46 0 26 0 0 5 29
SPTB-related disorder 0 22 0 23 13 0 1 29
TRRAP-related disorder 0 57 0 24 9 0 0 29
ABCC6-related disorder 0 47 0 14 9 0 7 28
ATP8B1-related disorder 0 43 0 11 24 0 0 28
Abnormal brain morphology 0 0 0 8 1 0 20 28
CACNA1E-related disorder 0 21 0 25 3 0 1 28
CACNA1H-related disorder 0 20 0 23 7 0 0 28
DHCR7-related disorder 0 25 0 9 17 0 4 28
Early onset severe obesity 0 25 0 13 11 0 7 28
HNF1A-related disorder 0 20 0 17 7 0 5 28
LAMC3-related disorder 0 30 0 12 18 0 0 28
RPGRIP1L-related disorder 0 72 0 9 17 0 2 28
ASXL1-related disorder 0 18 0 22 4 0 1 27
CHEK2-related disorder 0 50 0 6 15 0 7 27
CPLANE1-related disorder 0 34 0 13 13 0 3 27
CUBN-related disorder 0 34 0 15 10 0 3 27
Diabetes mellitus type 1; Type 1 diabetes mellitus 20; Maturity-onset diabetes of the young type 3; Type 2 diabetes mellitus; Hepatic adenomas, familial; Nonpapillary renal cell carcinoma 0 63 0 10 15 0 4 27
Dyslipidemia 0 44 0 21 0 0 6 27
Hypercholesterolemia 0 16 0 9 11 1 10 27
Isolated thoracic aortic aneurysm 0 11 0 15 5 0 8 27
PKD1L1-related disorder 0 104 0 16 11 0 0 27
PLXNA1-related disorder 0 111 0 18 9 0 0 27
TP63-Related Spectrum Disorders 0 41 0 17 10 0 2 27
ATP7B-related disorder 0 31 0 12 8 0 7 26
CFHR5 deficiency 0 13 0 19 8 0 2 26
CYP27A1-related disorder 0 30 0 8 15 0 5 26
Dominant beta-thalassemia; Heinz body anemia; Hb SS disease; Malaria, susceptibility to; METHEMOGLOBINEMIA, BETA TYPE; Erythrocytosis, familial, 6; Hereditary persistence of fetal hemoglobin; Beta-thalassemia HBB/LCRB 0 52 0 13 6 0 8 26
Epilepsy, idiopathic generalized, susceptibility to, 11; Familial hyperaldosteronism type II; Leukoencephalopathy with mild cerebellar ataxia and white matter edema 0 67 0 10 16 0 0 26
FANCA-related disorder 0 63 0 9 17 0 2 26
Hirschsprung disease, susceptibility to, 1; Multiple endocrine neoplasia type 2B; Pheochromocytoma; Familial medullary thyroid carcinoma; Multiple endocrine neoplasia type 2A 0 145 0 13 13 0 1 26
LAMA1-related disorder 0 26 0 16 13 0 0 26
PEX1-related disorder 0 20 0 7 20 0 0 26
PTEN-related disorder 0 36 0 10 15 0 2 26
RECQL4-related disorder 0 47 0 13 14 0 1 26
SPEG-related disorder 0 50 0 20 9 0 0 26
STK11-related disorder 0 30 0 17 10 0 0 26
ivacaftor response - Efficacy 0 1 0 0 0 26 0 26
ADNP-related disorder 0 13 0 20 5 0 1 25
ANKRD1-related dilated cardiomyopathy 0 57 0 14 10 0 1 25
APOB-related disorder 0 47 0 10 14 0 1 25
Basal laminar drusen; Factor H deficiency; Hemolytic uremic syndrome, atypical, susceptibility to, 1; Age related macular degeneration 4 0 111 0 19 6 0 1 25
Breast-ovarian cancer, familial, susceptibility to, 3; Fanconi anemia complementation group O 0 83 0 17 5 0 4 25
CCDC88C-related disorder 0 32 0 14 12 0 0 25
DST-related disorder 0 31 0 11 15 0 0 25
FOCAD-related disorder 0 78 0 12 12 0 1 25
Focal segmental glomerulosclerosis 3, susceptibility to 0 49 0 19 4 0 2 25
MPDZ-related disorder 0 47 0 21 4 0 1 25
Nephronophthisis 8 0 26 0 8 17 0 0 25
RET-related disorder 0 55 0 6 18 0 1 25
RTTN-related disorder 0 37 0 16 10 0 1 25
SCN1A-related disorder 0 45 0 16 12 0 1 25
SLC34A3-related disorder 0 22 0 14 11 0 2 25
SMARCA2-related disorder 0 18 0 22 2 0 1 25
Tramadol response 0 0 0 0 0 25 0 25
ABCC8-related disorder 0 51 0 13 9 0 3 24
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 0 14 0 14 3 0 12 24
Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Congenital multicore myopathy with external ophthalmoplegia; King Denborough syndrome 0 36 0 10 5 0 11 24
DNHD1-related disorder 0 51 0 21 1 0 2 24
DYNC2H1-related disorder 0 21 0 8 15 0 3 24
EBV-positive nodal T- and NK-cell lymphoma 0 14 0 3 18 0 4 24
Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, childhood absence, susceptibility to, 5 0 75 0 9 9 0 6 24
FAT2-related disorder 0 61 0 17 8 0 0 24
JAG1-related disorder 0 35 0 3 20 0 1 24
KCNT1-related disorder 0 22 0 18 10 0 0 24
NEFH-related disorder 0 64 0 12 13 0 0 24
Neural tube defect 0 25 0 19 4 0 1 24
PTPN11-related disorder 0 38 0 15 4 0 5 24
SZT2-related disorder 0 46 0 16 9 0 0 24
TRIM32-related disorder 0 57 0 3 20 0 1 24
TRIO-related disorder 0 47 0 21 5 0 1 24
VPS13D-related disorder 0 47 0 20 4 0 0 24
COL1A1-related disorder 0 54 0 11 11 0 2 23
ITGB4-related disorder 0 57 0 14 10 0 0 23
MYH6-related disorder 0 61 0 15 9 0 1 23
MYO5B-related disorder 0 109 0 16 7 0 0 23
SRCAP-related disorder 0 36 0 14 10 0 0 23
TAF15-related disorder 0 22 0 15 8 0 0 23
TCOF1-related disorder 0 14 0 18 7 0 0 23
BRAT1-related disorder 0 8 0 14 8 0 0 22
COL17A1-related disorder 0 18 0 17 4 0 1 22
COL5A1-related disorder 0 49 0 7 16 0 0 22
DNAH1-related disorder 0 24 0 11 11 0 0 22
DUOX2-related disorder 0 24 0 12 5 0 5 22
EHMT1-related disorder 0 20 0 13 12 0 1 22
IFT172-related disorder 0 62 0 5 17 0 0 22
LEPR-related disorder 0 26 0 6 15 0 2 22
MAGEL2-related disorder 0 142 0 2 20 0 0 22
OPA1-related disorder 0 27 0 10 15 0 2 22
SLC26A4-related disorder 0 25 0 16 4 0 4 22
SOS1-related disorder 0 18 0 13 11 0 0 22
SPTAN1-related disorder 0 24 0 18 7 0 1 22
Short stature 0 10 0 2 6 0 14 22
TECTA-related disorder 0 23 0 11 12 0 3 22
UGT1A1-related disorder 0 41 0 12 6 6 9 22
VWF-related disorder 0 52 0 9 10 0 6 22
ABCA12-related disorder 0 20 0 19 6 0 0 21
ABCD1-related disorder 0 29 0 6 5 0 10 21
ADAMTSL4-related disorder 0 23 0 16 6 0 0 21
ALPK3-related disorder 0 60 0 21 2 0 1 21
Atypical hemolytic-uremic syndrome with I factor anomaly; Age related macular degeneration 13; Factor I deficiency 0 78 0 11 6 0 5 21
COL6A1-related disorder 0 12 0 8 12 0 1 21
DE SANCTIS-CACCHIONE SYNDROME; Cerebrooculofacioskeletal syndrome 1; Cockayne syndrome type 2; UV-sensitive syndrome 1; Age related macular degeneration 5; Premature ovarian failure 11; Lung cancer 0 22 0 14 7 0 0 21
EYS-related disorder 0 39 0 16 10 0 0 21
FREM1-related disorder 0 40 0 11 10 0 0 21
HERC1-related disorder 0 24 0 15 6 0 0 21
Hematuria 0 16 0 17 1 0 8 21
ITPR1-related disorder 0 43 0 13 10 0 0 21
Inherited MMR deficiency (Lynch syndrome) 0 53 0 15 3 0 5 21
MYO18B-related disorder 0 67 0 15 6 0 0 21
NPHP3-related disorder 0 24 0 6 14 0 1 21
PCLO-related disorder 0 58 0 16 5 0 0 21
PLXNA2-related disorder 0 234 0 16 5 0 0 21
SACS-related disorder 0 22 0 12 11 0 0 21
SERPINA1-related disorder 0 6 0 3 16 2 1 21
SPTA1-related disorder 0 18 0 11 15 0 1 21
VCAN-related disorder 0 57 0 14 8 0 0 21
A2ML1-related disorder 0 50 0 11 10 0 0 20
ABCG5-related disorder 0 18 0 6 15 0 0 20
ADCY3-related disorder 0 39 0 11 8 0 1 20
Basal cell carcinoma, susceptibility to, 1; Holoprosencephaly 7; Basal cell nevus syndrome 1 0 26 0 14 7 0 0 20
CEP152-related disorder 0 23 0 18 4 0 0 20
CNGB1-related disorder 0 13 0 10 9 0 1 20
COL9A2-related disorder 0 15 0 7 14 0 0 20
COL9A3-related disorder 0 43 0 11 10 0 0 20
Congenital Muscular Dystrophy, alpha-dystroglycan related 0 35 0 5 15 0 0 20
DICER1-related disorder 0 61 0 9 12 0 0 20
DNMT3A-related disorder 0 28 0 12 7 0 2 20
Encephalopathy, acute, infection-induced, susceptibility to, 4 0 62 0 14 1 0 6 20
GLI2-related disorder 0 22 0 11 10 0 0 20
Isolated Coronal Synostosis 0 17 0 14 6 0 0 20
KIF1A-related disorder 0 38 0 11 10 0 1 20
LRRK1-related disorder 0 61 0 20 0 0 0 20
NBN-related disorder 0 27 1 8 13 0 0 20
NTRK2-related disorder 0 119 0 11 8 0 1 20
SAMD9L-related disorder 0 55 0 14 5 0 3 20
SLC10A2-related disorder 0 25 0 3 18 0 0 20
TSPEAR-related disorder 0 17 0 16 5 0 3 20
WDR62-related disorder 0 19 0 12 11 0 0 20
ZFHX3-related disorder 0 34 0 16 5 0 0 20
ACE-related disorder 0 27 0 12 5 0 3 19
AGRN-related disorder 0 19 0 9 11 0 0 19
COL4A6-related disorder 0 22 0 8 12 0 1 19
DDX41-related disorder 0 27 0 10 5 0 5 19
DSP-related disorder 0 43 0 10 8 0 1 19
Dermatitis, atopic, 2; Ichthyosis vulgaris 0 10 0 18 1 0 2 19
ERCC2-related disorder 0 14 0 13 6 0 0 19
ERCC6L2-related disorder 0 14 0 16 4 0 0 19
Epilepsy, idiopathic generalized, susceptibility to, 13 0 7 0 2 17 0 0 19
FBN2-related disorder 0 52 0 7 12 0 1 19
HNF1B-related disorder 0 29 0 3 16 0 1 19
HSD17B4-related disorder 0 18 0 7 12 0 3 19
Immunodeficiency 31B; Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome; Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency 0 42 0 13 5 0 3 19
MC4R-related disorder 0 30 0 10 2 0 10 19
MED13L-related disorder 0 18 0 16 3 0 0 19
Neurodevelopmental abnormality 0 32 0 7 7 0 8 19
PACS2-related disorder 0 20 0 17 2 0 0 19
PEX6-related disorder 0 25 0 8 12 0 2 19
Renal tubulopathies 0 17 0 14 0 0 5 19
SAMD9-related disorder 0 71 0 8 11 0 2 19
SETD2-related disorder 0 13 0 17 2 0 0 19
SH3TC2-related disorder 0 10 0 11 10 0 1 19
TCIRG1-related disorder 0 28 0 9 11 0 1 19
ALK-related disorder 0 37 0 5 14 0 0 18
ALS2-related disorder 0 30 0 6 13 0 0 18
ANK3-related disorder 0 45 0 16 2 0 0 18
ARHGAP31-related disorder 0 16 0 8 11 0 0 18
ATP1A3-related disorder 0 21 0 14 3 0 3 18
Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency 0 50 0 13 1 0 6 18
C2CD3-related disorder 0 22 0 12 6 0 0 18
COL12A1-related disorder 0 48 0 9 8 0 1 18
COL9A1-related disorder 0 26 0 8 10 0 1 18
Chitotriosidase deficiency 0 7 0 7 16 1 0 18
DMXL2-related disorder 0 42 0 14 4 0 0 18
DNAH7-related disorder 0 17 0 17 1 0 0 18
EXPH5-related disorder 0 15 0 18 0 0 0 18
FGFR3-related disorder 0 65 0 9 9 0 1 18
FH-related disorder 0 29 0 10 8 0 2 18
FLCN-related disorder 0 49 0 6 13 0 0 18
FOXP1-related disorder 0 14 0 16 1 0 1 18
GJB2-related disorder 0 26 1 14 3 0 2 18
KCNMA1-related disorder 0 18 0 9 8 0 1 18
LRRC56-related disorder 0 28 0 14 4 0 0 18
Lynch-like syndrome 0 45 0 9 1 0 9 18
MCPH1-related disorder 0 21 0 12 6 0 1 18
NLRP3-related disorder 0 12 0 10 9 0 0 18
RP1L1-related disorder 0 18 0 9 9 0 2 18
SBF1-related disorder 0 32 0 11 8 0 1 18
SCN2A-related disorder 0 28 0 14 5 0 1 18
SETD5-related disorder 0 25 0 14 3 0 1 18
SI-related disorder 0 17 0 12 7 0 3 18
SLC27A5-related disorder 0 26 0 6 16 0 0 18
Severe neonatal-onset encephalopathy with microcephaly; Syndromic X-linked intellectual disability Lubs type; X-linked intellectual disability-psychosis-macroorchidism syndrome; Rett syndrome; Autism, susceptibility to, X-linked 3 0 17 0 12 6 0 2 18
TRAPPC9-related disorder 0 20 0 11 8 0 0 18
UNC80-related disorder 0 57 0 15 3 0 0 18
ADAMTS13-related disorder 0 18 0 7 8 0 2 17
Aganglionic megacolon 0 8 0 7 6 0 6 17
BLM-related disorder 0 27 0 8 11 0 0 17
CACNA1D-related disorder 0 41 0 8 9 0 0 17
CACNA1S-related disorder 0 23 0 4 12 0 1 17
DGUOK-related disorder 0 18 0 6 12 0 1 17
DNAH11-related disorder 0 17 0 3 13 0 1 17
DVL1-related disorder 0 16 0 16 1 0 0 17
Decreased response to growth hormone stimulation test 0 11 0 6 11 0 0 17
ERCC6-related disorder 0 26 0 8 9 0 0 17
EVC-related disorder 0 7 0 4 13 0 0 17
EVC2-related disorder 0 12 0 11 6 0 0 17
FN1-related disorder 0 25 0 14 4 0 0 17
FUS-related disorder 0 28 0 8 9 0 0 17
GCK-related disorder 0 19 0 12 1 0 4 17
Hirschsprung disease, susceptibility to, 2 0 8 0 6 12 0 3 17
Hypertrophic cardiomyopathy 1; Dilated cardiomyopathy 1EE; Hypertrophic cardiomyopathy 14; Atrial septal defect 3; Sick sinus syndrome 3, susceptibility to 0 141 0 13 4 0 0 17
KDM6B-related disorder 0 20 0 14 3 0 0 17
KIT-related disorder 0 28 0 5 14 0 0 17
LDB3-related disorder 0 13 0 9 8 0 0 17
LMNA-related disorder 0 27 0 8 8 0 3 17
LTBP2-related disorder 0 26 0 11 7 0 0 17
MED12-Related Disorders 0 22 0 11 7 0 1 17
MYH11-related disorder 0 41 0 4 13 0 1 17
Malaria, susceptibility to 0 24 0 11 1 0 5 17
NPHP1-related disorder 0 23 0 1 16 0 0 17
NRIP1-related disorder 0 15 0 10 7 0 0 17
NRXN1-related disorder 0 17 0 7 10 0 2 17
PLCE1-related disorder 0 17 0 8 9 0 1 17
POMT1-related disorder 0 7 0 2 14 0 2 17
SEPN1-related disorder 0 20 0 9 8 0 0 17
SLC12A3-related disorder 0 25 0 12 5 0 1 17
SPTBN2-related disorder 0 17 0 14 5 0 0 17
TAF1-related disorder 0 11 0 16 3 0 0 17
TNS2-related disorder 0 24 0 14 4 0 0 17
TYR-related disorder 0 32 0 12 1 0 5 17
VPS33B-related disorder 0 19 0 5 14 0 0 17
WDR35-related disorder 0 9 0 5 12 0 0 17
ACTG1-related disorder 0 15 0 14 2 0 1 16
AKAP9-related disorder 0 13 0 14 4 0 0 16
BARD1-related disorder 0 46 0 8 10 0 0 16
CACNA1G-related disorder 0 22 0 13 3 0 0 16
CAPN3-related disorder 0 14 0 4 8 0 5 16
CNTNAP2-related disorder 0 19 0 3 14 0 0 16
Colorectal cancer, non-polyposis 0 6 0 2 16 0 0 16
DEPDC5-related disorder 0 17 0 14 6 0 1 16
Developmental cataract 0 3 0 7 4 0 5 16
ELN-related disorder 0 18 0 3 11 0 2 16
ELP1-Associated Medulloblastoma 0 6 0 14 1 0 1 16
FANCC-related disorder 0 21 0 6 10 0 1 16
Fanconi anemia complementation group N; Pancreatic cancer, susceptibility to, 3; Breast-ovarian cancer, familial, susceptibility to, 5 0 66 0 9 7 0 0 16
GRIN2B-related disorder 0 7 0 14 4 0 0 16
Glutaric acidemia type 2C 0 23 0 11 0 0 6 16
HERC2-related disorder 0 20 0 10 6 0 0 16
Herpes simplex encephalitis, susceptibility to, 1 0 46 0 12 3 0 1 16
IGSF10-related disorder 0 54 0 15 1 0 0 16
Ichthyosis and erythrokeratoderma 0 7 0 10 0 0 6 16
LAMA3-related disorder 0 33 0 12 6 0 0 16
LDLR-related disorder 0 37 0 11 2 0 3 16
Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules 0 17 0 6 8 0 3 16
MAP1B-related disorder 0 23 0 15 0 0 1 16
MET-related disorder 0 45 0 3 15 0 0 16
MUTYH-related disorder 0 38 0 5 10 0 3 16
MYLK-related disorder 0 43 0 5 10 0 1 16
NBEAL2-related disorder 0 15 0 13 6 0 0 16
PDZD7-related disorder 0 7 0 10 5 0 3 16
PTPN23-related disorder 0 20 0 13 4 0 0 16
RERE-related disorder 0 22 0 11 5 0 0 16
RTEL1-related disorder 0 37 0 6 9 0 1 16
SDHA-related disorder 0 45 0 10 4 0 3 16
TUBB1-related disorder 0 6 0 9 5 0 3 16
Transient Neonatal Diabetes, Recessive 0 10 0 9 7 0 0 16
ABCA3-related disorder 0 19 0 9 8 0 1 15
BBS1-related disorder 0 26 0 4 9 0 2 15
BEST1-related disorder 0 16 0 10 6 0 1 15
CACNA1B-related disorder 0 26 0 10 5 0 1 15
CC2D1A-related disorder 0 18 0 12 3 0 0 15
DEAF1-related disorder 0 16 0 6 7 0 2 15
Developmental disorder 0 22 0 5 6 0 6 15
ENG-related disorder 0 16 0 9 3 0 4 15
FGD1-related disorder 0 7 0 14 4 0 1 15
FLG-related disorder 0 15 0 13 1 0 1 15
Familial aortopathy 0 23 0 12 0 0 4 15
GALNT12-related disorder 0 18 0 9 6 0 0 15
GPR179-related disorder 0 22 0 14 2 0 0 15
Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5; Thyrotoxic periodic paralysis, susceptibility to, 1; Congenital myopathy 18 0 86 0 1 10 0 5 15
IGF1R-related disorder 0 28 0 8 8 0 0 15
INSR-related disorder 0 15 0 9 8 0 1 15
INVS-related disorder 0 15 0 2 13 0 0 15
IRF2BPL-related disorder 0 6 0 13 2 0 1 15
Inherited polyposis and early onset colorectal cancer - germline testing 0 14 0 5 10 0 3 15
Iodotyrosyl coupling defect; Autoimmune thyroid disease, susceptibility to, 3 0 20 0 9 5 0 1 15
KIF1B-related disorder 0 22 0 8 9 0 0 15
LAMB1-related disorder 0 35 0 8 8 0 0 15
LAMC2-related disorder 0 10 0 12 5 0 0 15
MAPKBP1-related disorder 0 12 0 15 0 0 0 15
MAST1-related disorder 0 13 0 15 0 0 0 15
MEFV-related disorder 0 16 0 7 7 0 4 15
Male infertility with azoospermia or oligozoospermia due to single gene mutation 0 5 0 5 1 0 10 15
NEK1-related disorder 0 16 0 4 11 0 1 15
OBSL1-related disorder 0 23 0 9 7 0 1 15
PEX5-related disorder 0 4 0 1 14 0 0 15
RAD50-related disorder 0 23 0 3 11 0 2 15
SNRNP200-related disorder 0 20 0 11 4 0 0 15
TUB-related disorder 0 124 0 4 10 0 1 15
VHL-related disorder 0 20 0 5 9 0 2 15
carboxymethyl-dextran-A2-gadolinium-DOTA 0 12 0 12 4 0 0 15
ACADVL-related disorder 0 19 0 9 1 0 4 14
ACTN1-related disorder 0 11 0 11 2 0 1 14
AGL-related disorder 0 12 0 6 8 0 0 14
ATRX-related disorder 0 21 0 12 3 0 0 14
Abnormality of coagulation 0 4 0 6 2 0 6 14
Abnormality of the skin 0 14 0 14 0 0 1 14
CAD-related disorder 0 29 0 14 1 0 0 14
CDK5RAP2-related disorder 0 25 0 6 8 0 0 14
CHD2-related disorder 0 11 0 13 1 0 0 14
COL1A2-related disorder 0 31 0 9 3 0 2 14
Carnitine palmitoyl transferase II deficiency, severe infantile form; Carnitine palmitoyl transferase II deficiency, myopathic form; Carnitine palmitoyl transferase II deficiency, neonatal form; Encephalopathy, acute, infection-induced, susceptibility to, 4 0 52 0 10 2 0 2 14
DCDC2-related disorder 0 5 0 3 11 0 0 14
GALC-related disorder 0 10 0 8 6 0 1 14
GBE1-related disorder 0 8 0 5 4 0 5 14
GPBAR1-related disorder 0 13 0 1 13 0 0 14
HMCN1-related disorder 0 62 0 12 2 0 0 14
IFT140-related disorder 0 26 0 6 8 0 0 14
IFT74-related disorder 0 109 0 9 3 0 2 14
ITPR3-related disorder 0 40 0 14 0 0 0 14
Inherited Immunodeficiency Diseases 0 17 0 11 0 1 5 14
KANK1-related disorder 0 40 0 6 8 0 0 14
MBD5-related disorder 0 11 0 8 8 0 0 14
MECOM-related disorder 0 14 0 9 5 0 0 14
NEXMIF-related disorder 0 7 0 14 1 0 0 14
NPHS1-related disorder 0 29 0 6 8 0 0 14
PEX14-related disorder 0 6 0 1 13 0 0 14
PNPT1-related disorder 0 17 0 8 5 0 2 14
POGZ-related disorder 0 8 0 10 3 0 1 14
RAD51C-related disorder 0 25 0 8 5 0 1 14
RREB1-related disorder 0 21 0 14 0 0 0 14
Rare genetic intellectual disability 0 11 0 10 2 0 2 14
SDCCAG8-related disorder 0 15 0 6 8 0 0 14
SLC4A1-related disorder 0 12 0 11 5 0 1 14
SOX10-related disorder 0 7 0 10 5 0 1 14
Sulfate transporter-related osteochondrodysplasia 0 22 0 9 5 0 0 14
TG-related disorder 0 32 0 11 2 0 2 14
TRPM1-related disorder 0 25 0 9 7 0 0 14
UMOD-related disorder 0 11 0 9 6 0 4 14
ZNF335-related disorder 0 12 0 11 3 0 1 14
ANK1-related disorder 0 19 0 5 8 0 0 13
Albinism or congenital nystagmus 0 7 0 10 2 1 4 13
Basal cell carcinoma, susceptibility to, 1; Gorlin syndrome; Holoprosencephaly 7 0 24 0 5 9 0 0 13
C6-related disorder 0 8 0 12 1 0 1 13
CDHR1-related disorder 0 16 0 7 5 0 2 13
CDK13-related disorder 0 22 0 8 3 0 2 13
CDKN1B-related disorder 0 10 0 5 10 0 0 13
CENPF-related disorder 0 17 0 6 7 0 0 13
CFB-related disorder 0 10 0 12 1 0 0 13
CHD4-related disorder 0 23 0 7 5 0 1 13
CIT-related disorder 0 21 0 9 4 0 0 13
CLCN1-related disorder 0 15 0 7 4 0 3 13
COL5A2-related disorder 0 23 0 3 10 0 0 13
CTNNA1-related disorder 0 51 0 8 3 0 2 13
CUL7-related disorder 0 18 0 6 8 0 0 13
Childhood onset hearing loss 0 11 0 1 9 0 3 13
DCTN1-related disorder 0 34 0 6 7 0 0 13
DOK7-related disorder 0 16 0 7 5 0 1 13
EPG5-related disorder 0 19 0 11 4 0 0 13
ERBIN-related disorder 0 32 0 8 5 0 0 13
FGFR1-related disorder 0 21 0 8 6 0 0 13
Familial hypocalciuric hypercalcemia 1; Neonatal severe primary hyperparathyroidism; Epilepsy, idiopathic generalized, susceptibility to, 8; Autosomal dominant hypocalcemia 1 0 41 0 10 0 0 3 13
GANAB-related disorder 0 12 0 6 8 0 0 13
HBB-related disorder 0 19 0 8 4 0 2 13
HCN4-related disorder 0 16 0 6 9 0 1 13
HPS1-related disorder 0 26 0 4 9 0 0 13
HPS4-related disorder 0 12 0 5 8 0 0 13
Hypophosphataemia or rickets 0 13 0 11 1 0 2 13
KATNIP-related disorder 0 28 0 11 2 0 0 13
KIAA0586-related disorder 0 12 0 6 7 0 0 13
KIF5A-related disorder 0 15 0 9 6 0 0 13
KMT2E-related disorder 0 30 0 9 4 0 0 13
KRT10-related disorder 0 8 0 9 4 0 0 13
KRT5-related disorder 0 11 0 10 1 0 3 13
Long telomere syndrome 0 3 0 4 0 0 10 13
MUC16-related disorder 0 42 0 13 0 0 0 13
Migalastat response 0 0 0 0 0 13 0 13
Monogenic short statue 0 19 0 8 4 0 2 13
NALCN-related disorder 0 30 0 7 6 0 0 13
NEBL-related disorder 0 19 0 10 4 0 0 13
Neonatal insulin-dependent diabetes mellitus 0 4 0 9 4 0 1 13
PKD2-related disorder 0 25 0 8 4 0 1 13
PRDM16-related disorder 0 31 0 9 4 0 0 13
RIN2-related disorder 0 20 0 7 5 0 1 13
SCN4A-related disorder 0 20 0 6 8 0 0 13
SCN8A-related disorder 0 27 0 6 8 0 2 13
SLX4-related disorder 0 19 0 4 8 0 1 13
SMARCAL1-related disorder 0 4 0 1 11 0 1 13
SPG11-related disorder 0 22 0 8 6 0 1 13
TCF3-related disorder 0 35 0 11 2 0 0 13
VPS13A-related disorder 0 28 0 9 6 0 0 13
ZEB2-related disorder 0 6 0 11 2 0 0 13
ADGRG1-related disorder 0 12 0 7 5 0 0 12
AEBP1-related disorder 0 21 0 10 2 0 0 12
ANXA11-related disorder 0 44 0 12 0 0 0 12
AR-related disorder 0 9 0 9 3 0 1 12
Abnormality of the eye 0 12 0 8 0 0 4 12
Acute rhabdomyolysis 0 11 0 9 1 0 5 12
BBS12-related disorder 0 20 0 4 7 0 2 12
CDKN1C-related disorder 0 8 0 4 8 0 0 12
CELSR1-related disorder 0 22 0 11 2 0 0 12
COQ8A-related disorder 0 19 0 9 4 0 0 12
CPT2-related disorder 0 10 0 6 6 0 2 12
Coenzyme Q10 deficiency, primary, 1; Multiple system atrophy 1, susceptibility to 0 44 0 5 2 0 5 12
DNAH17-related disorder 0 80 0 12 0 0 0 12
DNAH5-related disorder 0 26 0 3 9 0 0 12
DYRK1B-related disorder 0 44 0 9 3 0 0 12
Deafness 0 10 0 10 0 0 4 12
ENPP1-related disorder 0 20 0 7 5 0 1 12
EPHB4-related disorder 0 10 0 9 2 0 3 12
F8-related disorder 0 11 0 7 0 0 5 12
FAM20C-related disorder 0 9 0 7 4 0 1 12
FBLN1-related disorder 0 7 0 8 4 0 0 12
FMN1-related disorder 0 16 0 9 3 0 0 12
HNF4A-related disorder 0 8 0 8 1 0 5 12
IGHMBP2-related disorder 0 7 0 9 5 0 0 12
Inherited prion disease 0 10 0 11 1 0 0 12
KCNQ2-Related Disorders 0 32 0 9 1 0 3 12
KIF7-related disorder 0 15 0 4 8 0 0 12
LRP1B-related disorder 0 23 0 12 0 0 0 12
MAP2K2-related disorder 0 13 0 9 3 0 0 12
MKKS-related disorder 0 17 0 4 5 0 4 12
MYO3A-related disorder 0 10 0 9 3 0 0 12
Marfanoid habitus and intellectual disability 0 3 0 10 1 1 3 12
Myocardial infarction, susceptibility to; Congenital factor VII deficiency 0 10 0 10 1 1 1 12
PHEX-related disorder 0 9 0 10 1 0 2 12
PIEZO2-related disorder 0 14 0 11 4 0 0 12
PLXNA3-related disorder 0 51 0 9 3 0 0 12
PNKP-related disorder 0 8 0 3 7 0 2 12
POMC-related disorder 0 24 0 4 7 0 4 12
Proline dehydrogenase deficiency; Schizophrenia 4 0 6 0 5 4 0 3 12
RAF1-related disorder 0 11 0 12 4 0 0 12
REST-related disorder 0 31 0 10 3 0 0 12
ROBO1-related disorder 0 23 0 10 3 0 0 12
SALL1-related disorder 0 14 0 10 2 0 0 12
SCN10A-related disorder 0 14 0 4 8 0 0 12
SCN9A-related disorder 0 13 0 3 9 0 0 12
SKIC3-related disorder 0 23 0 7 5 0 0 12
SLC10A1-related disorder 0 5 0 0 8 0 4 12
SMCHD1-related disorder 0 4 0 6 7 0 0 12
SPECC1L-related disorder 0 17 0 10 3 0 0 12
SYNE4-related disorder 0 5 0 8 6 0 1 12
TBCD-related disorder 0 22 0 6 5 0 1 12
TERT-related disorder 0 49 0 1 9 0 2 12
TGM6-related disorder 0 6 0 12 0 0 0 12
TNC-related disorder 0 20 0 10 2 0 0 12
TRPV4-related disorder 0 8 0 10 2 0 0 12
WHRN-related disorder 0 11 0 6 7 0 0 12
fluorouracil response - Toxicity 0 1 0 0 0 12 0 12
ABCA1-related disorder 0 18 0 9 2 0 0 11
ACACA-related disorder 0 19 0 10 2 0 0 11
ACACB-related disorder 0 22 0 6 5 0 0 11
ACAD9-related disorder 0 21 0 6 5 0 1 11
ACTN2-related disorder 0 11 0 6 5 0 1 11
ADCY10-related disorder 0 13 0 7 4 0 0 11
AMER1-related disorder 0 5 0 10 1 0 0 11
ANO5-related disorder 0 9 0 5 5 0 1 11
Abnormality of neuronal migration 0 4 0 10 3 0 0 11
BAAT-related disorder 0 6 0 2 10 0 0 11
BAP1-related disorder 0 32 0 4 7 0 0 11
BNC2-related disorder 0 9 0 10 1 0 0 11
Breast cancer, susceptibility to 0 10 3 5 1 0 4 11
CACNA1F-related disorder 0 25 0 5 5 0 1 11
CASR-related disorder 0 16 0 5 4 0 3 11
CDAN1-related disorder 0 19 0 7 5 0 1 11
CDH2-related disorder 0 17 0 10 1 0 0 11
CFAP410-related disorder 0 30 0 7 4 0 0 11
CHRNE-related disorder 0 5 0 5 4 0 3 11
CIC-related disorder 0 29 0 8 3 0 0 11
COL27A1-related disorder 0 24 0 10 1 0 0 11
DNAH2-related disorder 0 37 0 11 0 0 0 11
DNAJC21-related disorder 0 14 0 8 2 0 1 11
DPYD-related disorder 0 9 0 3 3 0 5 11
ERMARD-related disorder 0 11 0 9 3 0 0 11
ESPN-related disorder 0 10 0 6 5 0 0 11
F7-related disorder 0 9 0 5 3 1 2 11
FAN1-related disorder 0 19 0 9 2 0 0 11
FKTN-related disorder 0 5 0 2 9 0 1 11
FSIP2-related disorder 0 13 0 5 6 0 0 11
GGCX-related disorder 0 10 0 11 0 0 0 11
GLA-related disorder 0 9 0 4 6 0 5 11
GREB1L-related disorder 0 27 0 8 4 0 0 11
Global developmental delay; Brain atrophy 0 0 0 0 1 0 10 11
HDAC4-related disorder 0 12 0 7 4 0 0 11
Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5; Thyrotoxic periodic paralysis, susceptibility to, 1 0 72 0 5 6 0 1 11
IFIH1-related disorder 0 16 0 7 4 0 0 11
INPP5E-related disorder 0 29 0 6 4 0 1 11
Inherited phaeochromocytoma and paraganglioma excluding NF1 0 17 0 7 1 0 4 11
KCNH1-related disorder 0 16 0 6 6 0 0 11
LAMB3-related disorder 0 17 0 8 3 0 0 11
LARS2-related disorder 0 14 0 9 2 0 0 11
LIFR-related disorder 0 9 0 6 5 0 0 11
LPL-related disorder 0 12 0 9 2 1 1 11
MLH3-related disorder 0 9 0 9 4 0 0 11
MTHFR-related disorder 0 4 0 5 6 2 0 11
MYH7B-related disorder 0 30 0 8 4 0 0 11
Macrothrombocytopenia 0 12 0 2 2 0 7 11
Malaria, susceptibility to; Anemia, nonspherocytic hemolytic, due to G6PD deficiency 0 9 0 10 0 0 2 11
NEDD4L-related disorder 0 14 0 10 1 0 0 11
NOD2-related disorder 0 13 0 2 9 0 0 11
NTHL1-related disorder 0 34 0 4 7 0 2 11
Non-obstructive azoospermia 0 3 0 4 5 0 2 11
Obstructive azoospermia 0 3 0 5 2 0 7 11
Orofacial cleft 6, susceptibility to; Popliteal pterygium syndrome; Van der Woude syndrome 0 23 0 5 1 0 5 11
PACS1-related disorder 0 4 0 10 1 0 0 11
PCSK1-related disorder 0 39 0 3 6 0 2 11
PDGFRA-related disorder 0 31 0 0 11 0 0 11
PEX13-related disorder 0 7 0 1 9 0 1 11
PKLR-related disorder 0 9 0 5 4 0 4 11
PKP2-related disorder 0 22 0 7 2 0 2 11
PLEKHG5-related disorder 0 11 0 5 6 0 0 11
PPARG-related disorder 0 29 0 8 3 0 0 11
PUS1-related disorder 0 8 0 8 3 0 0 11
Progressive myoclonic epilepsy type 9; Lipodystrophy, partial, acquired, susceptibility to 0 37 0 4 7 0 0 11
SEMA3A-related disorder 0 40 0 2 9 0 0 11
SETD1B-related disorder 0 29 0 8 3 0 0 11
SIPA1L3-related disorder 0 9 0 10 1 0 0 11
SLC25A13-related disorder 0 11 0 1 10 0 0 11
SORL1-related disorder 0 15 0 11 0 0 0 11
SPG7-related disorder 0 16 0 5 3 0 3 11
TBC1D24-related disorder 0 20 0 7 4 0 1 11
TMEM43-related disorder 0 11 0 5 6 0 0 11
TMEM67-related disorder 0 21 0 8 4 0 0 11
TMPRSS3-related disorder 0 9 0 8 2 0 2 11
TOP2B-related disorder 0 11 0 9 2 0 0 11
TREX1-related disorder 0 8 0 8 2 0 1 11
TTC21B-related disorder 0 27 0 1 10 0 0 11
TUBB3-related disorder 0 9 0 9 4 0 0 11
TUBGCP6-related disorder 0 44 0 8 3 0 0 11
Thoracic aortic aneurysm or dissection 0 13 0 7 0 0 4 11
UNC13A-related disorder 0 17 0 8 2 0 1 11
VARS2-related disorder 0 6 0 9 2 0 2 11
VCP-related disorder 0 5 0 8 5 0 0 11
VIPAS39-related disorder 0 9 0 3 9 0 0 11
ZNF407-related disorder 0 16 0 10 1 0 0 11
ZSWIM6-related disorder 0 15 0 11 0 0 0 11
AARS2-related disorder 0 8 0 8 3 0 0 10
ABCC9-related disorder 0 16 0 7 2 0 2 10
ADAMTS2-related disorder 0 17 0 2 8 0 0 10
AIP-related disorder 0 13 0 2 9 0 0 10
ANLN-related disorder 0 12 0 5 5 0 0 10
AP3D1-related disorder 0 29 0 4 6 0 0 10
ARFGEF2-related disorder 0 19 0 7 4 0 0 10
ATP7A-related disorder 0 17 0 5 6 0 0 10
BLTP1-related disorder 0 18 0 5 5 0 0 10
BMPR1A-related disorder 0 9 0 4 7 0 0 10
BRAF-related disorder 0 19 0 9 3 0 0 10
BRSK2-related disorder 0 11 0 8 2 0 0 10
Bilateral sensorineural hearing impairment 0 12 0 7 2 0 1 10
CARD14-related disorder 0 7 0 8 1 0 1 10
CARMIL2-related disorder 0 23 0 8 3 0 0 10
CAV3-related disorder 0 4 0 9 6 0 0 10
CD36-related disorder 0 3 0 4 3 0 5 10
CEP164-related disorder 0 20 0 3 6 0 2 10
CEP250-related disorder 0 23 0 8 2 0 0 10
CHRNA4-related disorder 0 5 0 5 7 0 0 10
CLCN4-related disorder 0 13 0 8 0 0 2 10
COMP-related disorder 0 7 0 9 1 0 0 10
CTDP1-related disorder 0 17 0 6 4 0 0 10
CTR9-related disorder 0 14 0 7 3 0 0 10
CUX2-related disorder 0 20 0 9 1 0 0 10
Colorectal cancer, susceptibility to 0 4 1 1 5 0 5 10
Complement component 9 deficiency; Age related macular degeneration 15 0 1 0 6 3 0 1 10
DAG1-related disorder 0 6 0 4 6 0 0 10
DDX3X-related disorder 0 5 0 8 1 0 1 10
DLL1-related disorder 0 16 0 8 4 0 0 10
DSG2-related disorder 0 14 0 8 3 0 0 10
EPS8-related disorder 0 11 0 6 5 0 0 10
F5-related disorder 0 6 0 5 4 0 1 10
FCSK-related disorder 0 34 0 9 1 0 0 10
FKRP-related disorder 0 4 0 3 7 0 1 10
FMN2-related disorder 0 74 0 8 2 0 0 10
GFM1-related disorder 0 9 0 8 3 0 0 10
GLDC-related disorder 0 19 0 8 2 0 0 10
GLIS3-related disorder 0 7 0 7 4 0 0 10
GUCY2D-related disorder 0 3 0 1 9 0 0 10
INF2-related disorder 0 20 0 10 0 0 0 10
Iron accumulation in brain 0 16 0 5 2 0 3 10
KCNH2-related disorder 0 16 0 5 3 0 2 10
KCNV2-related disorder 0 13 0 8 3 0 2 10
KDM5C-related disorder 0 6 0 9 0 0 1 10
KIAA1549-related disorder 0 24 0 7 3 0 0 10
KIF11-related disorder 0 15 0 10 0 0 0 10
KIF23-related disorder 0 9 0 7 4 0 0 10
KSR2-related disorder 0 53 0 7 3 0 0 10
LIPA-related disorder 0 8 0 1 9 0 0 10
LRP4-related disorder 0 13 0 3 7 0 0 10
LRRK2-related disorder 0 5 0 10 1 0 0 10
LTBP4-related disorder 0 20 0 7 3 0 0 10
MAGI2-related disorder 0 14 0 8 4 0 0 10
MAPT-related disorder 0 9 0 6 6 0 1 10
MMUT-related disorder 0 14 0 6 4 0 0 10
MRE11-related disorder 0 8 0 5 5 0 0 10
MRTFA-related disorder 0 19 0 8 2 0 0 10
MYH2-related disorder 0 11 0 5 4 0 1 10
MYH8-related disorder 0 5 0 8 2 0 0 10
Malignant hypothermia 0 2 0 3 5 0 2 10
Myocardial infarction, susceptibility to; Glanzmann thrombasthenia 2; Bleeding disorder, platelet-type, 24 0 9 0 6 0 0 4 10
NARS2-related disorder 0 2 0 5 4 0 1 10
NFIA-Related Disorder 0 7 0 9 1 0 0 10
NIN-related disorder 0 16 0 5 5 0 0 10
NLRP1-related disorder 0 29 0 5 5 0 0 10
NSDHL-related disorder 0 4 0 10 1 0 0 10
NUP133-related disorder 0 15 0 10 0 0 0 10
OPHN1-related disorder 0 0 0 9 2 0 0 10
ORC1-related disorder 0 5 0 9 0 0 1 10
OTOA-related disorder 0 8 0 6 2 0 2 10
PCSK9-related disorder 0 3 0 6 2 0 2 10
PDE11A-related disorder 0 5 0 7 4 0 0 10
PITX2-Related Eye Abnormalities 0 3 0 7 2 0 1 10
POMGNT1-related disorder 0 3 0 4 7 0 0 10
PROM1-related disorder 0 20 0 7 4 0 0 10
PYCR1-related disorder 0 8 0 6 2 0 2 10
Predisposition to cancer 0 19 0 4 4 0 3 10
RAB3GAP1-related disorder 0 16 0 9 1 0 0 10
RASA1-related disorder 0 5 0 7 2 0 1 10
RHOBTB2-related disorder 0 18 0 5 4 0 1 10
RNF43-related disorder 0 10 0 8 2 0 1 10
ROR2-related disorder 0 16 0 4 6 0 1 10
Respiratory ciliopathies including non-CF bronchiectasis 0 11 0 7 0 0 4 10
SAMD11-related disorder 0 30 0 10 0 0 0 10
SH3PXD2B-related disorder 0 11 0 6 5 0 0 10
SLC2A1-related disorder 0 10 0 2 7 0 1 10
SLC45A2-related disorder 0 4 0 6 1 0 6 10
SPTBN4-related disorder 0 19 0 9 1 0 0 10
SYNGAP1-related disorder 0 15 0 10 0 0 0 10
TBCE-related disorder 0 10 0 6 5 0 0 10
TBXAS1-related disorder 0 7 0 7 4 0 1 10
TGFBR2-related disorder 0 14 0 3 5 0 2 10
TGM1-related disorder 0 15 0 9 2 0 1 10
TNNI3K-related disorder 0 17 0 6 3 0 1 10
TRAP1-related disorder 0 13 0 5 8 0 0 10
TRIM28-related disorder 0 10 0 9 1 0 0 10
UBR4-related disorder 0 40 0 10 0 0 0 10
USP9X-related disorder 0 14 0 9 1 0 0 10
VCL-related disorder 0 5 0 6 3 0 1 10
WNT10A-related disorder 0 3 0 2 3 0 5 10
WT1-related disorder 0 23 0 3 7 0 0 10
ZBTB20-related disorder 0 9 0 6 4 0 0 10
capecitabine response - Toxicity 0 1 0 0 0 10 0 10
ACADM-related disorder 0 11 0 5 0 0 4 9
ADCY5-related disorder 0 7 0 4 5 0 0 9
APC2-related disorder 0 33 0 7 3 0 0 9
ARPC1B-related disorder 0 9 0 8 1 0 0 9
ASXL2-related disorder 0 16 0 7 3 0 0 9
ATP13A2-related disorder 0 11 0 4 6 0 0 9
ATP1A1-related disorder 0 13 0 7 1 0 1 9
Abnormal bleeding 0 10 0 6 1 1 5 9
Abnormality of the skeletal system 0 3 0 9 0 0 0 9
Astrocytoma IDH-mutant 0 3 9 1 0 0 0 9
Autism, susceptibility to, 15; Cortical dysplasia-focal epilepsy syndrome 0 32 0 1 6 0 2 9
BBS10-related disorder 0 14 0 2 7 0 0 9
BBS9-related disorder 0 30 0 4 4 0 1 9
BETA-PLUS-THALASSEMIA 0 27 0 8 0 0 1 9
BRD4-related disorder 0 18 0 9 0 0 0 9
BRWD3-related disorder 0 5 0 6 3 0 0 9
Brugada syndrome (shorter-than-normal QT interval) 0 8 0 6 1 0 2 9
C3-related disorder 0 27 0 7 3 0 0 9
CDKN2A-related disorder 0 13 0 5 4 0 2 9
CEP135-related disorder 0 10 0 7 2 0 0 9
CLIC5-related disorder 0 11 0 8 2 0 0 9
COCH-related disorder 0 5 0 8 2 0 0 9
COL13A1-related disorder 0 23 0 6 3 0 0 9
COL3A1-related disorder 0 24 0 3 6 0 0 9
CPAMD8-related disorder 0 34 0 9 0 0 0 9
CPS1-related disorder 0 8 0 6 3 0 0 9
CSF2RB-related disorder 0 21 0 6 2 0 1 9
CTNNB1-related disorder 0 16 0 8 1 0 0 9
DIAPH1-related disorder 0 11 0 4 6 0 0 9
DLC1-related disorder 0 34 0 5 4 0 0 9
DNA2-related disorder 0 15 0 7 3 0 1 9
DNM2-related disorder 0 9 0 7 2 0 0 9
DNMT1-related disorder 0 15 0 7 2 0 0 9
DZIP1L-related disorder 0 12 0 9 0 0 0 9
Diabetes mellitus type 2, susceptibility to 0 0 0 1 1 0 7 9
EFHC1-related disorder 0 2 0 5 5 0 0 9
EPRS1-related disorder 0 16 0 9 0 0 0 9
ERBB4-related disorder 0 51 0 6 3 0 0 9
ERCC5-related disorder 0 6 0 9 1 0 0 9
ETV6-related disorder 0 16 0 5 3 0 2 9
F11-related disorder 0 11 0 7 1 0 1 9
F12-related disorder 0 4 0 6 3 0 1 9
FANCD2-related disorder 0 13 0 2 7 0 0 9
FKBP10-related disorder 0 13 0 7 2 0 1 9
FOXC1-related disorder 0 1 0 4 4 0 1 9
FOXG1-related disorder 0 8 0 7 4 0 0 9
FYCO1-related disorder 0 1 0 8 0 0 1 9
Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome 0 4 0 7 2 0 0 9
Familial hyperparathyroidism or Hypocalciuric hypercalcaemia 0 7 0 4 3 0 2 9
Focal segmental glomerulosclerosis 4, susceptibility to 0 13 2 7 0 0 3 9
GATA2-related disorder 0 9 0 4 6 0 0 9
GLB1-related disorder 0 15 0 6 3 0 0 9
GLI3-related disorder 0 18 0 7 4 0 0 9
GPD1-related disorder 0 3 0 5 3 0 1 9
GPSM2-related disorder 0 6 0 4 6 0 0 9
GRM6-related disorder 0 23 0 8 1 0 0 9
GSR-related disorder 0 7 0 9 0 0 0 9
Genetic non-acquired premature ovarian failure 0 1 0 5 0 0 5 9
HECW2-related disorder 0 21 0 9 0 0 0 9
Hemoglobin E 0 2 0 1 6 1 1 9
INSULIN RESISTANCE, DIGENIC 0 4 0 4 5 0 0 9
ITGA7-related disorder 0 10 0 4 4 0 1 9
Inherited prostate cancer 0 12 0 6 3 0 0 9
JPH2-related disorder 0 7 0 4 6 0 0 9
KMT2C-related NDD 0 3 0 8 1 0 0 9
KRAS-related disorder 0 9 0 7 3 0 0 9
LAMA4-related disorder 0 23 0 3 6 0 0 9
LBR-related disorder 0 9 0 9 2 0 0 9
LCT-related disorder 0 16 0 9 0 0 0 9
LMF1-related disorder 0 15 0 7 2 0 0 9
LMX1B-related disorder 0 13 0 5 4 0 0 9
LRBA-related disorder 0 19 0 2 8 0 0 9
LYST-related disorder 0 22 0 1 8 0 0 9
MCM2-related disorder 0 20 0 8 1 0 0 9
MITF-related disorder 0 35 0 2 7 0 0 9
MLC1-related disorder 0 4 0 5 4 0 0 9
MPL-related disorder 0 10 0 5 4 0 0 9
MRPS22-related disorder 0 1 0 8 3 0 0 9
MTTP-related disorder 0 11 0 4 5 0 0 9
MYO1E-related disorder 0 12 0 5 5 0 0 9
MYO6-related disorder 0 8 0 4 5 0 2 9
MYT1L-related disorder 0 10 0 9 0 0 0 9
NAXD-related disorder 0 8 0 9 0 0 0 9
NBEA-related disorder 0 24 0 7 2 0 0 9
NDUFV1-related disorder 0 9 0 7 1 0 1 9
NIPBL-related disorder 0 17 0 6 3 0 1 9
NTRK1-related disorder 0 7 0 4 5 0 0 9
NUP188-related disorder 0 14 0 8 1 0 0 9
P4HB-related disorder 0 3 0 9 0 0 0 9
PAH-related disorder 0 44 0 8 0 0 3 9
PALLD-related disorder 0 6 0 4 7 0 0 9
PDE4D-related disorder 0 4 0 8 2 0 0 9
PDE6B-related disorder 0 15 0 7 1 0 3 9
PDE6C-related disorder 0 9 0 6 4 0 0 9
PEX10-related disorder 0 12 0 0 9 0 0 9
PEX26-related disorder 0 6 0 1 8 0 0 9
PGK1-related disorder 0 3 0 8 2 0 0 9
PHKB-related disorder 0 5 0 3 6 0 0 9
PIK3CA-related disorder 0 12 0 8 1 0 1 9
PRRT2-Related Disorder 0 5 0 7 4 0 0 9
PTPRQ-related disorder 0 5 0 4 5 0 0 9
Paediatric disorders 0 12 0 2 6 0 1 9
RAD51D-related disorder 0 23 0 2 6 0 1 9
RB1-related disorder 0 11 0 6 5 0 0 9
RECQL-related disorder 0 18 0 1 8 0 0 9
RIPK4-related disorder 0 5 0 8 1 0 0 9
SALL4-Related Disorders 0 7 0 5 5 0 0 9
SDHB-related disorder 0 13 0 8 1 0 1 9
SEC23B-related disorder 0 10 0 3 6 0 0 9
SGCA-related disorder 0 3 0 0 6 0 3 9
SH2B1-related disorder 0 67 0 4 5 0 0 9
SHANK3-related disorder 0 13 0 9 1 0 0 9
SLC12A1-related disorder 0 10 0 7 2 0 1 9
SLC7A9-related disorder 0 8 0 8 0 0 2 9
STXBP2-related disorder 0 6 0 5 4 1 0 9
TBX1-related disorder 0 13 0 5 5 0 0 9
TBX3-related disorder 0 9 0 3 6 0 0 9
TEX15-related disorder 0 6 0 9 0 0 0 9
TOPORS-related disorder 0 8 0 6 4 0 0 9
TREM2-related disorder 0 9 0 4 5 0 1 9
TRMU-related disorder 0 23 0 2 6 0 1 9
TRPM4-related disorder 0 10 0 6 4 0 0 9
TUBA1A-related disorder 0 14 0 7 1 0 4 9
TULP1-related disorder 0 7 0 4 4 0 2 9
Type 1 diabetes mellitus 2; Maturity-onset diabetes of the young type 10; Hyperproinsulinemia; Diabetes mellitus, permanent neonatal 4 0 6 0 7 2 0 0 9
WDR19-related disorder 0 15 0 3 6 0 0 9
WRN-related disorder 0 10 0 1 8 0 0 9
XIRP2-related disorder 0 33 0 9 0 0 0 9
ZNF292-related disorder 0 12 0 9 0 0 0 9
ZNF341-related disorder 0 16 0 9 0 0 0 9
ABCB6-related disorder 0 5 0 6 3 0 2 8
ABHD12-related disorder 0 6 0 3 7 0 0 8
ABL1-related disorder 0 14 0 7 1 0 0 8
ACTB-related disorder 0 11 0 7 0 0 1 8
ACVRL1-related disorder 0 13 0 8 0 0 1 8
AHI1-related disorder 0 8 0 2 6 0 0 8
ALAS2-related disorder 0 8 0 6 2 0 0 8
ALDH5A1-related disorder 0 5 0 5 4 0 0 8
ALDOB-related disorder 0 11 0 1 7 0 0 8
ALG13-related disorder 0 14 0 6 2 0 0 8
ALG9-related disorder 0 4 0 3 6 0 0 8
ALPK1-related disorder 0 5 0 7 1 0 0 8
AMACR-related disorder 0 6 0 0 8 0 0 8
AMPD1-related disorder 0 2 0 2 8 2 2 8
ANKH-related disorder 0 5 0 6 2 0 0 8
ANKZF1-related disorder 0 23 0 7 1 0 0 8
ARHGAP24-related disorder 0 9 0 6 3 0 0 8
ATP2A1-related disorder 0 7 0 4 6 0 0 8
ATP6V0A2-related disorder 0 8 0 4 6 0 0 8
ATP8A2-related disorder 0 4 0 6 2 0 0 8
ATR-related disorder 0 43 0 7 2 0 0 8
Abnormal cardiovascular system morphology 0 14 0 5 0 0 3 8
Abnormal central motor function 0 9 0 7 0 0 1 8
Autosomal dominant epilepsy 0 6 0 6 0 0 3 8
BBS7-related disorder 0 10 0 4 3 0 1 8
BCKDHA-related disorder 0 7 0 4 4 0 0 8
BLK-related disorder 0 6 0 3 6 0 1 8
BPTF-related disorder 0 25 0 7 1 0 0 8
Breast and colorectal cancer, susceptibility to 0 3 0 5 0 0 4 8
C7-related disorder 0 5 0 7 0 0 1 8
CACNB4-related disorder 0 2 0 6 4 0 0 8
CDK4-related disorder 0 8 0 3 5 0 0 8
CDKL5-related disorder 0 10 0 3 7 0 0 8
CEP104-related disorder 0 7 0 8 0 0 0 8
CHRNA2-related disorder 0 6 0 6 3 0 0 8
CLCN2-related disorder 0 12 0 8 1 0 0 8
CTNNA3-related disorder 0 4 0 5 3 0 0 8
CTU2-related disorder 0 22 0 5 4 0 0 8
CYP7B1-related disorder 0 9 0 2 7 0 0 8
Charcot-Marie-Tooth disease type 4C; Susceptibility to mononeuropathy of the median nerve, mild 0 18 0 6 0 0 2 8
DES-related disorder 0 7 0 2 6 0 0 8
DIAPH3-related disorder 0 14 0 5 3 0 0 8
DNAH10-related disorder 0 15 0 6 2 0 0 8
DNAJC13-related disorder 0 10 0 8 0 0 0 8
DOCK8-related disorder 0 22 0 2 6 0 1 8
DSG1-related disorder 0 25 0 8 0 0 0 8
Death in infancy 0 0 0 0 0 0 8 8
Deep venous thrombosis 0 3 0 1 4 1 4 8
Differences in sex development 0 15 0 5 1 0 3 8
Disseminated atypical mycobacterial infection 0 25 0 6 1 0 1 8
Dystrophin deficiency 0 24 0 1 7 0 0 8
ELP1-related disorder 0 9 0 7 1 0 1 8
EPHA2-related disorder 0 5 0 6 3 0 0 8
FASTKD2-related disorder 0 2 0 4 4 0 0 8
FIG4-related disorder 0 20 0 4 3 0 2 8
Factor VII-activating protease marburg I 0 17 0 5 3 0 0 8
GRN-related disorder 0 14 0 7 1 0 0 8
Gallbladder disease 4; Sitosterolemia 1 0 6 0 3 6 0 0 8
HK1-related disorder 0 20 0 5 2 0 1 8
HPS6-related disorder 0 14 0 6 2 0 0 8
HSD3B7-related disorder 0 11 0 4 4 0 1 8
IFT27-related disorder 0 28 0 1 7 0 0 8
INTS1-related disorder 0 10 0 4 4 0 0 8
ITSN2-related disorder 0 28 0 6 2 0 0 8
KARS1-related disorder 0 11 0 6 1 0 1 8
KCNB1-related disorder 0 7 0 6 2 0 0 8
L1CAM-related disorder 0 12 0 4 4 0 0 8
LAMB2-related disorder 0 12 0 1 7 0 0 8
LOX-related disorder 0 12 0 6 2 0 0 8
MBTPS1-related disorder 0 14 0 8 0 0 0 8
MID1-related disorder 0 5 0 7 1 0 1 8
MTR-related disorder 0 4 0 6 2 0 0 8
MYPN-related disorder 0 23 0 3 5 0 0 8
NFATC1-related disorder 0 27 0 7 1 0 0 8
NLRP2-related disorder 0 26 0 7 1 0 0 8
NPHS2-related disorder 0 10 0 6 0 0 2 8
NSD2-related disorder 0 14 0 8 0 0 0 8
OFD1-related disorder 0 8 0 3 5 0 0 8
Osteogenesis Imperfecta, Recessive 0 8 0 0 8 0 0 8
PCDH19-related disorder 0 7 0 4 4 0 0 8
PIGO-related disorder 0 7 0 3 5 0 0 8
PIK3R2-related disorder 0 5 0 7 2 0 0 8
PTCH2-related disorder 0 9 0 7 1 0 0 8
PTPRD-related disorder 0 15 0 8 0 0 0 8
PYGM-related disorder 0 9 0 3 5 0 1 8
Parkinson disease 13, autosomal dominant, susceptibility to 0 15 0 2 7 0 0 8
Primary Mitochondrial Disorders 0 10 0 6 0 0 2 8
Pulmonary arterial hypertension associated with congenital heart disease 0 1 0 2 2 0 4 8
RHBDF2-related disorder 0 6 0 7 2 0 0 8
RIMS1-related disorder 0 11 0 4 6 0 0 8
Rod-cone dystrophy 0 12 0 2 0 0 7 8
SCN3A-related disorder 0 32 0 4 5 0 0 8
SGSH-related disorder 0 8 0 5 3 0 0 8
SIX5-related disorder 0 18 0 4 5 0 0 8
SLC12A6-related disorder 0 15 0 6 1 0 1 8
SLC26A1-related disorder 0 12 0 5 1 0 2 8
SLC6A8-related disorder 0 12 0 6 2 0 0 8
SLCO1B1-related disorder 0 3 0 8 0 1 0 8
SMARCB1-related disorder 0 15 0 4 5 0 0 8
SOS2-related disorder 0 20 0 7 1 0 0 8
STRC-related disorder 0 7 0 1 5 0 2 8
TBC1D8B-related disorder 0 5 0 6 2 0 0 8
TELO2-related disorder 0 8 0 6 2 0 0 8
TENM3-related disorder 0 9 0 7 1 0 0 8
TENM4-related disorder 0 21 0 6 3 0 0 8
THAP11-related disorder 0 7 0 8 0 0 0 8
TMPRSS6-related disorder 0 7 0 3 5 0 0 8
TNNT2-related disorder 0 11 0 5 2 0 1 8
TONSL-related disorder 0 31 0 7 1 0 0 8
TPM1-related disorder 0 7 0 7 1 0 0 8
TSHR-related disorder 0 11 0 7 1 0 1 8
UBR1-related disorder 0 19 0 5 3 0 0 8
USH1C-related disorder 0 20 0 5 5 0 0 8
USH1G-related disorder 0 5 0 3 6 0 0 8
VLDLR-related disorder 0 14 0 5 3 0 0 8
WDR81-related disorder 0 15 0 5 3 0 0 8
Wiedemann-Rautenstrauch-like progeroid syndrome 0 1 0 7 0 0 1 8
concomitant exotropia 0 0 0 0 0 0 8 8
fluorouracil response - Other 0 0 0 0 0 8 0 8
AARS1-related disorder 0 9 0 6 0 0 1 7
ABCB7-related disorder 0 4 0 7 1 0 0 7
ACADS-related disorder 0 5 0 6 1 0 0 7
ACTN4-related disorder 0 11 0 6 2 0 0 7
ACY1-related disorder 0 3 0 6 1 0 0 7
AIPL1-related disorder 0 1 0 3 5 0 0 7
ANO6-related disorder 0 5 0 4 1 0 2 7
ARHGEF1-related disorder 0 11 0 6 1 0 0 7
ARX-related disorder 0 5 0 2 6 0 0 7
AXL-related disorder 0 6 0 5 2 0 0 7
Abnormal cerebral morphology 0 6 0 4 0 0 3 7
Abnormal facial shape; Abnormality of blood and blood-forming tissues; Abnormality of the immune system; Postnatal growth retardation; Neurodevelopmental abnormality 0 2 0 7 0 0 0 7
Autosomal recessive POLG-related disorders 0 3 0 6 0 0 2 7
BACH2-related disorder 0 16 0 7 0 0 0 7
BCL11B-related disorder 0 18 0 5 2 0 1 7
BICC1-related disorder 0 5 0 6 1 0 0 7
BICD2-related disorder 0 4 0 6 1 0 0 7
BTD-related disorder 0 12 0 5 3 0 1 7
C5-related disorder 0 12 0 4 2 0 1 7
CAMK2B-related disorder 0 14 0 6 1 0 0 7
CAVIN1-related disorder 0 6 0 2 6 0 0 7
CBS-related disorder 0 22 0 3 2 0 2 7
CDH3-related disorder 0 15 0 4 3 0 0 7
CELSR2-related disorder 0 31 0 4 3 0 0 7
CENPJ-related disorder 0 8 0 4 3 0 0 7
CFH-related disorder 0 15 0 6 1 0 0 7
CHD3-related disorder 0 19 0 4 2 0 1 7
CILK1-related disorder 0 4 0 6 1 0 0 7
CLPB-related disorder 0 9 0 2 3 0 2 7
CNGA3-related disorder 0 21 0 5 2 0 2 7
CNOT1-related disorder 0 20 0 6 1 0 0 7
CNOT3-related disorder 0 10 0 7 0 0 0 7
CP-related disorder 0 9 0 2 5 0 0 7
CPT1A-related disorder 0 7 0 2 4 0 1 7
CSMD3-related disorder 0 19 0 7 0 0 0 7
CTCF-related disorder 0 5 0 5 2 0 0 7
Cystic fibrosis diagnostic test 0 20 0 5 2 0 2 7
DHTKD1-related disorder 0 8 0 6 1 0 1 7
DIP2C-related disorder 0 23 0 7 0 0 0 7
DTNA-related disorder 0 9 0 5 4 0 0 7
Decreased circulating carnitine concentration 0 23 0 1 1 0 5 7
Delayed puberty 0 0 0 3 0 0 4 7
EDA-related disorder 0 2 0 7 0 0 0 7
EFL1-related disorder 0 16 0 7 0 0 0 7
EGF-related disorder 0 12 0 6 1 0 0 7
EP400-related disorder 0 10 0 7 0 0 0 7
EPM2A-related disorder 0 0 0 2 5 0 0 7
EPS8L2-related disorder 0 9 0 2 5 0 0 7
EXT2-related disorder 0 5 0 1 7 0 0 7
Ectopic tissue 0 19 0 3 0 0 5 7
FAH-related disorder 0 13 0 1 6 0 1 7
FBXO11-related disorder 0 11 0 5 2 0 0 7
FBXW7-related disorder 0 5 0 5 2 0 0 7
FGFR2-related disorder 0 22 0 5 2 0 0 7
FOXI1-related disorder 0 11 0 6 1 0 0 7
FUCA1-related disorder 0 3 0 5 2 0 0 7
GATA5-related disorder 0 13 0 5 2 0 0 7
GCDH-related disorder 0 5 0 3 1 0 3 7
GRIN2D-related disorder 0 13 0 5 2 0 0 7
GRIP1-related disorder 0 17 0 3 5 0 0 7
HOMER2-related disorder 0 4 0 6 2 0 0 7
HPS3-related disorder 0 13 0 4 4 0 0 7
HPS5-related disorder 0 21 0 6 1 0 0 7
Hypofibrinogenemia 0 5 0 3 2 0 2 7
Hypoplasia of the iris 0 6 0 4 2 0 1 7
IHH-related disorder 0 4 0 5 3 0 1 7
IMPG2-related disorder 0 11 0 3 4 0 1 7
ITGA3-related disorder 0 14 0 4 3 0 0 7
Immunodeficiency 28 0 20 0 3 4 0 0 7
KATNB1-related disorder 0 16 0 7 0 0 0 7
KCNJ10-related disorder 0 5 0 2 6 0 0 7
KCNK4-related disorder 0 4 0 6 1 0 0 7
KCNQ3-related disorder 0 6 0 5 1 0 1 7
KCNQ4-related disorder 0 4 0 6 1 0 0 7
KDM6A-related disorder 0 9 0 6 1 0 0 7
KRT74-related disorder 0 4 0 7 0 0 0 7
LRPPRC-related disorder 0 26 0 4 5 0 0 7
MAN1B1-related disorder 0 1 0 3 4 0 0 7
MAN2B1-related disorder 0 6 0 2 5 0 0 7
MAPK8IP3-related disorder 0 18 0 7 0 0 0 7
MASP1-related disorder 0 6 0 3 4 0 0 7
MBD4-related disorder 0 10 0 3 2 0 2 7
MBTPS2-related disorder 0 1 0 6 1 0 0 7
MERTK-related disorder 0 11 0 5 4 0 0 7
MPV17-related disorder 0 8 0 3 4 0 0 7
MYO5A-related disorder 0 11 0 4 3 0 0 7
MYO9A-related disorder 0 9 0 2 5 0 0 7
MYOM1-related disorder 0 15 0 5 2 0 0 7
MYSM1-related disorder 0 13 0 5 2 0 0 7
Male infertility with spermatogenesis disorder 0 1 0 3 0 0 7 7
NACC1-related disorder 0 17 0 6 0 0 1 7
NCAPG2-related disorder 0 9 0 6 1 0 0 7
NCSTN-related disorder 0 4 0 6 1 0 0 7
NLGN4X-related disorder 0 6 0 5 2 0 0 7
NR1H4-related disorder 0 9 0 0 7 0 0 7
NRAP-related disorder 0 28 0 5 2 0 0 7
NUP160-related disorder 0 14 0 4 3 0 0 7
NUP93-related disorder 0 10 0 6 0 0 1 7
P2RX2-related disorder 0 9 0 5 2 0 0 7
PAX3-related disorder 0 9 0 7 0 0 0 7
PDE6A-related disorder 0 8 0 2 4 0 2 7
PDGFRB-related disorder 0 11 0 6 1 0 0 7
PEPD-related disorder 0 9 0 7 0 0 0 7
PEX12-related disorder 0 6 0 3 3 0 1 7
PEX19-related disorder 0 3 0 1 6 0 0 7
PEX7-related disorder 0 10 0 1 6 0 0 7
PIGG-related disorder 0 6 0 5 2 0 0 7
PITPNM3-related disorder 0 10 0 4 4 0 0 7
PITRM1-related disorder 0 22 0 7 0 0 0 7
PLCG2-related disorder 0 21 0 5 3 0 0 7
PLOD2-related disorder 0 3 0 5 2 0 0 7
PLXND1-related disorder 0 27 0 7 0 0 0 7
PMM2-related disorder 0 12 0 6 1 0 0 7
POLA1-related disorder 0 10 0 5 2 0 0 7
PRKAR1B-related disorder 0 7 0 6 0 0 1 7
PRKD1-related disorder 0 5 0 6 2 0 0 7
PRKN-related disorder 0 1 0 6 1 0 0 7
PRR12-related disorder 0 31 0 7 0 0 0 7
PRX-related disorder 0 15 0 2 5 0 0 7
PTPRO-related disorder 0 10 0 6 1 0 0 7
RAB3GAP2-related disorder 0 8 0 2 5 0 0 7
RBP3-related disorder 0 13 0 3 4 0 0 7
RNF31-related disorder 0 8 0 3 5 0 0 7
ROBO2-related disorder 0 17 0 6 1 0 0 7
RUNX1-related disorder 0 15 0 4 3 0 0 7
SCAPER-related disorder 0 22 0 6 1 0 0 7
SCARB2-related disorder 0 3 0 2 6 0 0 7
SCLT1-related disorder 0 40 0 4 2 0 1 7
SCNN1B-related disorder 0 9 0 6 1 0 0 7
SHH-related disorder 0 11 0 4 3 0 1 7
SIM1-related disorder 0 40 0 6 2 0 0 7
SLC12A2-related disorder 0 2 0 4 3 0 0 7
SLC19A3-related disorder 0 1 0 3 3 0 1 7
SLC22A12-related disorder 0 1 0 4 1 0 2 7
SLC24A1-related disorder 0 9 0 4 4 0 0 7
SLC26A3-related disorder 0 11 0 7 0 0 0 7
SLC37A4-related disorder 0 6 0 1 7 0 1 7
SLC6A1-related disorder 0 12 0 5 2 0 1 7
SMAD4-related disorder 0 22 0 5 3 0 0 7
SOX11-related disorder 0 12 0 5 3 0 0 7
SPEN-related disorder 0 34 0 6 1 0 0 7
SPTBN1-related disorder 0 2 0 6 0 0 1 7
SRP72-related disorder 0 25 0 1 6 0 0 7
STIL-related disorder 0 4 0 1 7 0 0 7
STS-related disorder 0 1 0 7 0 0 0 7
SUFU-related disorder 0 8 0 3 5 0 0 7
Seizure; Hypotonia; Neurodevelopmental Disability 0 0 0 7 0 0 0 7
Skeletal muscle channelopathy 0 7 0 7 0 0 1 7
Susceptibility to nonsyndromic otitis media 0 1 0 0 4 0 3 7
TANGO2-related disorder 0 9 0 4 3 0 0 7
TBCK-related disorder 0 19 0 5 2 0 0 7
TBX2-related disorder 0 7 0 6 1 0 0 7
TET2-related disorder 0 19 0 5 3 0 0 7
TIAM1-related disorder 0 7 0 5 2 0 0 7
TNFAIP3-related disorder 0 9 0 5 3 0 0 7
TNFRSF1A-related disorder 0 5 0 5 1 0 1 7
TOE1-related disorder 0 4 0 4 4 0 0 7
TOP3A-related disorder 0 19 0 5 2 0 0 7
TP63-related disorder 0 10 0 4 3 0 0 7
TPO-related disorder 0 7 0 7 0 0 0 7
TRIP11-related disorder 0 12 0 1 6 0 0 7
TTR-related disorder 0 1 0 4 4 0 0 7
TYMP-related disorder 0 13 0 6 1 0 0 7
UNC13D-related disorder 0 10 0 4 3 0 0 7
VPS13C-related disorder 0 38 0 5 2 0 0 7
WWOX-related disorder 0 10 0 5 2 0 0 7
ABCA7-related disorder 0 10 0 3 2 0 1 6
ABCB1-related disorder 0 4 0 6 0 0 0 6
ACAN-related disorder 0 20 0 2 4 0 1 6
ACO2-related disorder 0 14 0 2 4 0 1 6
ACOX2-related disorder 0 29 0 1 4 0 1 6
ADAMTS18-related disorder 0 29 0 4 2 0 1 6
ADAMTS9-related disorder 0 26 0 4 2 0 0 6
ADGRA3-related disorder 0 15 0 4 2 0 0 6
AGXT-related disorder 0 10 0 4 2 0 0 6
ALG1-related disorder 0 6 0 2 3 0 1 6
ALG8-related disorder 0 8 0 2 4 0 0 6
ALMS1-related disorder 0 15 0 1 2 0 3 6
AP3B2-related disorder 0 18 0 4 2 0 0 6
ARID2-related disorder 0 7 0 6 0 0 0 6
ARMC5-related disorder 0 15 0 5 1 0 0 6
ATP2B4-related disorder 0 10 0 5 1 0 0 6
Abnormality of metabolism/homeostasis 0 13 0 6 0 0 1 6
Autosomal dominant nocturnal frontal lobe epilepsy 1; Tobacco addiction, susceptibility to 0 10 0 3 3 0 0 6
B3GLCT-related disorder 0 1 0 3 3 0 0 6
BCS1L-related disorder 0 10 0 3 1 0 2 6
BIRC6-related disorder 0 20 0 6 0 0 0 6
BLOOD GROUP--LUTHERAN INHIBITOR 0 2 0 1 2 1 2 6
Blau syndrome; Psoriatic arthritis, susceptibility to; Yao syndrome; Inflammatory bowel disease 1 0 0 0 1 5 0 0 6
C8B-related disorder 0 5 0 5 1 0 0 6
C9-related disorder 0 9 0 3 3 0 0 6
CACNA2D4-related disorder 0 15 0 2 2 0 2 6
CARS2-related disorder 0 8 0 2 4 0 0 6
CDK12-related disorder 0 2 0 6 0 0 0 6
CDT1-related disorder 0 10 0 3 4 0 0 6
CEP120-related disorder 0 6 0 4 3 0 0 6
CFAP418-related disorder 0 24 0 0 4 0 2 6
CFAP44-related disorder 0 4 0 6 0 0 0 6
CHMP1A-related disorder 0 5 0 5 1 0 0 6
CHRNB2-related disorder 0 0 0 3 3 0 0 6
CLASP1-related disorder 0 9 0 1 4 0 1 6
CNGA1-related disorder 0 4 0 5 2 0 0 6
CNNM4-related disorder 0 6 0 5 1 0 0 6
COL10A1-related disorder 0 7 0 4 3 0 0 6
COQ2-related disorder 0 13 0 1 4 0 1 6
COQ6-related disorder 0 7 0 3 4 0 0 6
CPA1-related disorder 0 4 0 4 2 0 0 6
CRB1-related disorder 0 9 0 5 1 0 1 6
CREB3L1-related disorder 0 6 0 5 1 0 0 6
CSF3R-related disorder 0 3 0 2 4 0 0 6
CSMD1-related disorder 0 18 0 6 0 0 0 6
CTNND2-related disorder 0 11 0 6 1 0 0 6
CUL9-related disorder 0 2 0 6 0 0 0 6
CYP7A1-related disorder 0 14 0 1 6 0 0 6
Corticosteroids response 0 0 0 0 0 6 0 6
DACT1-related disorder 0 4 0 6 0 0 0 6
DENND5A-related disorder 0 7 0 5 1 0 0 6
DHX38-related disorder 0 8 0 5 1 0 0 6
DIS3L2-related disorder 0 17 0 3 3 0 0 6
DISP1-related disorder 0 14 0 3 3 0 0 6
DLX6-related disorder 0 5 0 2 4 0 0 6
DNAH8-related disorder 0 14 0 1 5 0 0 6
DSC2-related disorder 0 13 0 2 4 0 0 6
DSCAML1-related disorder 0 46 0 5 1 0 0 6
DVL3-related disorder 0 10 0 4 2 0 0 6
DYM-related disorder 0 6 0 3 4 0 1 6
Decreased circulating alkaline phosphatase activity 0 3 0 1 1 0 4 6
EBP-related disorder 0 2 0 6 0 0 1 6
EFTUD2-related disorder 0 15 0 4 1 0 1 6
EGFR-related disorder 0 10 0 3 3 0 0 6
EIF2AK3-related disorder 0 10 0 3 3 0 0 6
EML1-related disorder 0 8 0 3 3 0 0 6
EPCAM-related disorder 0 14 0 5 2 0 0 6
ESCO2-related disorder 0 11 0 4 3 0 0 6
ETFDH-related disorder 0 7 0 3 2 0 1 6
Epilepsy, idiopathic generalized, susceptibility to, 11 0 5 0 1 2 0 3 6
FANCL-related disorder 0 2 0 1 4 0 2 6
FARS2-related disorder 0 3 0 5 1 0 0 6
FASN-related disorder 0 19 0 5 1 0 0 6
FDXR-related disorder 0 10 0 4 2 0 1 6
FGG-related disorder 0 5 0 2 3 0 3 6
FLT4-related disorder 0 6 0 4 1 0 1 6
Flurbiprofen response 0 0 0 0 0 6 0 6
G6PD-related disorder 0 10 0 4 2 0 0 6
GABBR2-related disorder 0 7 0 5 0 0 1 6
GATA4-related disorder 0 16 0 3 3 0 0 6
GBA1-related disorder 0 8 0 3 2 1 2 6
GJB3-related disorder 0 9 0 6 3 0 0 6
GMPPB-related disorder 0 5 0 5 1 0 0 6
GNE-related disorder 0 7 0 0 6 0 0 6
GP6-related disorder 0 8 0 5 1 0 0 6
GPC3-related disorder 0 8 0 3 3 0 0 6
GYG2-related disorder 0 4 0 2 4 0 0 6
Glaucoma 1, open angle, G 0 5 0 2 2 0 2 6
HCN1-related disorder 0 5 0 5 2 0 0 6
HEPACAM-related disorder 0 9 0 4 4 0 0 6
HOXB13-related disorder 0 31 0 3 2 2 0 6
HYOU1-related disorder 0 18 0 4 2 0 0 6
Hereditary neuropathy or pain disorder 0 6 0 5 1 0 0 6
Hereditary orotic aciduria, type 1 0 9 0 3 2 0 1 6
IARS1-related disorder 0 10 0 6 0 0 0 6
INS-related disorder 0 5 0 3 3 0 0 6
ITGB3-related disorder 0 24 0 3 2 0 1 6
Incidental Discovery 0 7 0 4 0 0 2 6
JAK2-related disorder 0 22 0 4 2 0 0 6
KCNC3-related disorder 0 3 0 6 1 0 0 6
KIF26B-related disorder 0 25 0 6 0 0 0 6
KNL1-related disorder 0 6 0 2 2 0 2 6
KRT2-related disorder 0 6 0 4 0 0 2 6
LIPE-related disorder 0 9 0 4 2 0 0 6
Lesinurad response 0 0 0 0 0 6 0 6
MADD-related disorder 0 6 0 4 2 0 1 6
MAMLD1-related disorder 0 0 0 5 1 0 0 6
MAPT-Related Spectrum Disorders 0 24 0 3 4 0 1 6
MARS1-related disorder 0 9 0 3 3 0 0 6
MECR-related disorder 0 3 0 6 0 0 0 6
MEGF10-related disorder 0 7 0 5 1 0 0 6
MESP2-related disorder 0 7 0 4 3 0 0 6
MFN2-related disorder 0 4 0 5 1 0 0 6
MMACHC-related disorder 0 9 0 3 4 0 0 6
MPO-related disorder 0 2 0 5 1 0 0 6
MYBPC1-related disorder 0 4 0 3 3 0 0 6
MYLK2-related disorder 0 6 0 3 3 0 0 6
MYOT-related disorder 0 3 0 3 3 0 0 6
Microscopic hematuria 0 2 0 1 3 0 2 6
NAGLU-related disorder 0 6 0 3 3 0 0 6
NDUFS2-related disorder 0 6 0 4 2 0 0 6
NFE2L2-related disorder 0 8 0 4 2 0 0 6
NHLRC1-related disorder 0 1 0 2 5 0 0 6
NLRP12-related disorder 0 18 0 2 5 0 0 6
NLRP5-related disorder 0 10 0 6 0 0 0 6
NR2E3-related disorder 0 18 0 6 0 0 0 6
NUP205-related disorder 0 15 0 4 2 0 0 6
PCCB-related disorder 0 8 0 1 4 0 1 6
PCK2-related disorder 0 8 0 4 2 0 0 6
PEX2-related disorder 0 5 0 1 5 0 0 6
PIGV-related disorder 0 3 0 4 1 0 2 6
PIKFYVE-related disorder 0 4 0 6 0 0 0 6
PLCB1-related disorder 0 5 0 3 3 0 0 6
PLVAP-related disorder 0 6 0 5 1 0 0 6
PODXL-related disorder 0 16 0 5 1 0 0 6
POLQ-related disorder 0 16 0 5 1 0 0 6
POR-related disorder 0 6 0 1 5 0 0 6
PROC-related disorder 0 6 0 2 3 0 1 6
PSTPIP1-related disorder 0 5 0 3 3 0 0 6
PTPRT-related disorder 0 22 0 5 1 0 0 6
PXDN-related disorder 0 2 0 3 3 0 0 6
Parkinson Disease, Dominant 0 11 0 3 3 0 0 6
Parkinson disease 5, autosomal dominant, susceptibility to 0 9 0 3 3 0 0 6
Pigmentary skin disorders 0 7 0 3 2 1 3 6
Piroxicam response 0 0 0 0 0 6 0 6
Possible mitochondrial disorder - nuclear genes 0 9 0 3 1 0 4 6
Progressive cone dystrophy (without rod involvement) 0 2 0 2 2 0 2 6
QARS1-related disorder 0 6 0 2 5 0 0 6
RAB11B-related disorder 0 5 0 6 0 0 0 6
RAPSN-related disorder 0 6 0 1 3 0 2 6
RFWD3-related disorder 0 9 0 3 3 0 0 6
RRM2B-related disorder 0 6 0 4 1 0 2 6
RYR3-related disorder 0 21 0 5 1 0 0 6
SCARB1-related disorder 0 7 0 4 2 0 0 6
SCN11A-related disorder 0 7 0 5 2 0 0 6
SCP2-related disorder 0 17 0 4 3 0 0 6
SCYL1-related disorder 0 7 0 5 1 0 0 6
SELENON-related disorder 0 3 0 3 5 0 0 6
SEMA3D-related disorder 0 20 0 5 1 0 0 6
SEMA3E-related disorder 0 21 0 1 5 0 0 6
SERPINF1-related disorder 0 6 0 3 4 0 0 6
SETD1A-related disorder 0 7 0 4 2 0 0 6
SIN3A-related disorder 0 7 0 5 1 0 0 6
SIRT1-related disorder 0 2 0 4 2 0 0 6
SLC1A2-related disorder 0 9 0 4 3 0 0 6
SLC20A2-related disorder 0 11 0 6 0 0 0 6
SLC25A22-related disorder 0 2 0 1 5 0 0 6
SLC39A4-related disorder 0 16 0 6 0 0 0 6
SLC4A4-related disorder 0 5 0 5 1 0 0 6
SLFN14-related disorder 0 3 0 5 2 0 0 6
SLITRK6-related disorder 0 8 0 4 2 0 0 6
SMAD3-related disorder 0 11 0 2 4 0 0 6
SNX14-related disorder 0 5 0 5 2 0 0 6
SOX6-related disorder 0 3 0 6 0 0 0 6
SPAST-related disorder 0 6 0 4 1 0 1 6
STAG1-related disorder 0 8 0 5 0 0 1 6
STAR-related disorder 0 7 0 5 1 0 0 6
STIM1-related disorder 0 6 0 2 4 0 0 6
STXBP1-related disorder 0 6 0 5 1 0 0 6
Sudden unexplained death 0 10 0 4 3 1 0 6
Susceptibility to severe coronavirus disease (COVID-19) 0 0 0 0 3 1 2 6
Syndromic neurodevelopmental disorder 0 1 0 4 0 0 2 6
TALDO1-related disorder 0 24 0 3 3 0 0 6
TBK1-related disorder 0 14 0 5 1 0 0 6
TBX22-related disorder 0 2 0 5 0 0 1 6
TBX5-related disorder 0 8 0 5 2 0 0 6
TGFBR1-related disorder 0 11 0 1 6 0 0 6
TH-related disorder 0 5 0 2 4 0 0 6
THBD-related disorder 0 9 0 4 3 0 0 6
TMEM107-related disorder 0 11 0 3 2 0 2 6
TMEM127-related disorder 0 1 0 4 2 0 0 6
TMEM216-related disorder 0 4 0 1 5 0 0 6
TMEM231-related disorder 0 11 0 2 4 0 0 6
TNFRSF11A-related disorder 0 12 0 3 5 0 0 6
TNNI3-related disorder 0 2 0 4 0 0 2 6
TPP1-related disorder 0 12 0 2 3 0 1 6
TRMT5-related disorder 0 10 0 6 0 0 1 6
TRPC6-related disorder 0 9 0 4 2 0 0 6
TRPM3-related disorder 0 10 0 6 0 0 0 6
TRPM6-related disorder 0 6 0 5 2 0 0 6
TRPV3-related disorder 0 8 0 5 1 0 0 6
TRPV6-related disorder 0 16 0 6 0 0 0 6
TSFM-related disorder 0 4 0 5 2 0 0 6
TYRP1-related disorder 0 9 0 1 2 0 3 6
UNC45A-related disorder 0 20 0 6 0 0 0 6
WARS2-related disorder 0 8 0 5 1 0 2 6
XDH-related disorder 0 5 0 1 4 0 1 6
XRCC2-related disorder 0 11 0 4 4 0 0 6
XYLT2-related disorder 0 28 0 4 2 0 0 6
YARS2-related disorder 0 7 0 4 2 0 0 6
ZFHX4-related disorder 0 9 0 5 1 0 0 6
ZNF142-related disorder 0 16 0 6 0 0 0 6
ZNF423-related disorder 0 8 0 4 2 0 0 6
maculopathy 0 6 0 3 0 0 3 6
warfarin response - Dosage 0 0 0 0 0 6 0 6
ABCA13-related disorder 0 3 0 5 0 0 0 5
ABCA2-related disorder 0 8 0 3 2 0 0 5
ADAMTS10-related disorder 0 16 0 4 1 0 0 5
ADAMTS17-related disorder 0 13 0 3 2 0 0 5
ADCY1-related disorder 0 10 0 5 0 0 0 5
ADGRE2-related disorder 0 13 0 4 1 0 0 5
AFF4-related disorder 0 18 0 1 4 0 0 5
AGPAT2-related disorder 0 5 0 3 3 0 0 5
AIRE-related disorder 0 13 0 3 1 0 1 5
AK2-related disorder 0 4 0 3 2 0 0 5
AKR1D1-related disorder 0 4 0 0 5 0 0 5
ALDH18A1-related disorder 0 19 0 1 2 0 2 5
ALDH4A1-related disorder 0 3 0 3 2 0 0 5
ALDH7A1-related disorder 0 9 0 1 3 0 2 5
ANO3-related disorder 0 2 0 4 1 0 0 5
AP3B1-related disorder 0 6 0 1 4 0 0 5
AP5Z1-related disorder 0 9 0 2 3 0 0 5
APBA2-related disorder 0 13 0 5 0 0 0 5
ARHGEF18-related disorder 0 24 0 5 0 0 0 5
ARIH1-related disorder 0 5 0 3 2 0 0 5
ARMC9-related disorder 0 14 0 4 1 0 0 5
ARSA-related disorder 0 8 0 2 3 0 1 5
ARSL-related disorder 0 4 0 4 0 0 1 5
ASH1L-related disorder 0 25 0 4 1 0 0 5
ASNS-related disorder 0 6 0 5 0 0 0 5
ATP13A3-related disorder 0 9 0 5 0 0 0 5
ATP2A2-related disorder 0 3 0 4 1 0 0 5
ATP2B2-related disorder 0 17 0 3 2 0 0 5
ATP6AP1-related disorder 0 1 0 1 4 0 0 5
ATP6V1B1-related disorder 0 17 0 3 3 0 0 5
Aculeiform cataract 0 11 0 4 1 0 0 5
Associated with severe COVID-19 disease 0 0 0 0 4 0 1 5
Autosomal dominant retinitis pigmentosa 0 2 0 3 0 0 2 5
BBS4-related disorder 0 14 0 0 5 0 0 5
BCOR-related disorder 0 13 0 2 3 0 0 5
BIVM-ERCC5-related disorder 0 7 0 3 2 0 0 5
Blood group, ER 0 0 0 0 0 5 0 5
CABIN1-related disorder 0 21 0 5 0 0 0 5
CACNA1I-related disorder 0 14 0 5 0 0 0 5
CAPN5-related disorder 0 18 0 3 2 0 0 5
CARD11-related disorder 0 10 0 3 2 0 0 5
CCBE1-related disorder 0 12 0 2 2 0 1 5
CCDC78-related disorder 0 3 0 4 1 0 0 5
CDC14A-related disorder 0 6 0 5 0 0 0 5
CEBPA-related disorder 0 8 0 3 2 0 0 5
CEP41-related disorder 0 2 0 0 4 0 1 5
CETP-related disorder 0 6 0 4 1 0 0 5
CHAMP1-related disorder 0 14 0 4 1 0 0 5
CHAT-related disorder 0 3 0 3 2 0 0 5
CLCN7-related disorder 0 16 0 3 2 0 0 5
CLN8-related disorder 0 2 0 2 3 0 0 5
COASY-related disorder 0 4 0 2 3 0 0 5
COG5-related disorder 0 6 0 3 2 0 0 5
COLGALT1-related disorder 0 13 0 3 2 0 0 5
COQ8B-related disorder 0 9 0 3 4 0 0 5
COQ9-related disorder 0 6 0 2 3 0 0 5
CR2-related disorder 0 8 0 4 2 0 0 5
CRPPA-related disorder 0 3 0 1 4 0 0 5
CSGALNACT1-related disorder 0 12 0 5 0 0 0 5
CSPP1-related disorder 0 8 0 2 3 0 0 5
CTC1-related disorder 0 12 0 1 3 0 1 5
CTSD-related disorder 0 0 0 0 5 0 0 5
CTSF-related disorder 0 4 0 2 3 0 0 5
CYP11B1-related disorder 0 5 0 4 0 0 2 5
CYP17A1-related disorder 0 8 0 4 1 0 0 5
CYP21A2-related disorder 0 12 0 2 2 0 2 5
CYP24A1-related disorder 0 2 0 3 2 0 0 5
CYP26B1-related disorder 0 2 0 5 2 0 0 5
Congenital NAD deficiency disorder 0 4 0 4 0 0 1 5
D2HGDH-related disorder 0 5 0 3 2 0 1 5
DAAM2-related disorder 0 2 0 3 2 0 0 5
DARS2-related disorder 0 7 0 4 1 0 0 5
DCAF17-related disorder 0 2 0 1 4 0 0 5
DCPS-related disorder 0 1 0 5 0 0 0 5
DGAT1-related disorder 0 9 0 4 1 0 0 5
DHX37-related disorder 0 29 0 3 2 0 0 5
DNAAF4-related disorder 0 0 0 3 2 0 0 5
DNAJC6-related disorder 0 1 0 4 1 0 0 5
DPYS-related disorder 0 3 0 5 0 0 0 5
DRP2-related disorder 0 4 0 4 0 0 1 5
DSG4-related disorder 0 10 0 3 2 0 0 5
Debrisoquine, poor metabolism of 0 0 0 0 0 5 0 5
Deutetrabenazine response 0 0 0 0 0 5 0 5
Diabetes mellitus, ketosis-prone; Maturity-onset diabetes of the young type 9; Type 2 diabetes mellitus 0 13 0 5 0 0 0 5
EARS2-related disorder 0 3 0 2 3 0 0 5
ECEL1-related disorder 0 7 0 4 1 0 0 5
ECHS1-related disorder 0 7 0 3 2 0 1 5
EFEMP1-related disorder 0 2 0 4 2 0 0 5
EIF2AK4-related disorder 0 4 0 5 0 0 0 5
EIF2B3-related disorder 0 5 0 4 2 0 0 5
ELAC2-related disorder 0 4 0 2 4 0 0 5
ERCC4-related disorder 0 6 0 2 3 0 1 5
EZH2-related disorder 0 6 0 4 1 0 0 5
Epidermodysplasia verruciformis, susceptibility to, 1 0 0 1 1 3 0 0 5
Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency 0 28 0 2 3 0 0 5
FAM111A-related disorder 0 6 0 4 1 0 0 5
FANCB-related disorder 0 8 0 2 3 0 0 5
FAT3-related disorder 0 24 0 5 0 0 0 5
FGD4-related disorder 0 6 0 5 1 0 0 5
FGF3-related disorder 0 1 0 5 0 0 0 5
FRMPD4-related disorder 0 8 0 5 0 0 0 5
FSCN2-related disorder 0 9 0 3 2 0 0 5
FSHR-related disorder 0 0 0 3 3 0 0 5
FTL-related disorder 0 3 0 4 1 0 0 5
FZD2-related disorder 0 2 0 5 0 0 0 5
GABRA1-related disorder 0 1 0 2 3 0 0 5
GABRA2-related disorder 0 6 0 3 2 0 0 5
GARS1-related disorder 0 4 0 3 2 0 0 5
GCLC-related disorder 0 4 0 3 2 0 0 5
GFAP-related disorder 0 12 0 4 1 0 0 5
GH1-related disorder 0 3 0 4 1 0 0 5
GLMN-related disorder 0 3 0 5 0 0 0 5
GNAO1-related disorder 0 6 0 4 0 0 1 5
GPAA1-related disorder 0 9 0 5 0 0 0 5
GRM1-related disorder 0 5 0 4 2 0 0 5
GSDME-related disorder 0 3 0 4 2 0 0 5
GSN-related disorder 0 17 0 5 0 0 0 5
GTPBP3-related disorder 0 9 0 3 2 0 0 5
HADHA-related disorder 0 14 0 0 4 0 1 5
HCFC1-related disorder 0 12 0 4 1 0 0 5
HFE-related disorder 0 2 0 1 3 1 0 5
HMOX1-related disorder 0 3 0 4 1 0 0 5
HRAS-related disorder 0 17 0 4 1 0 0 5
Haemorrhagic telangiectasia 1 0 0 0 2 3 0 0 5
Hereditary cryohydrocytosis with reduced stomatin; Dystonia 9; Encephalopathy due to GLUT1 deficiency; Childhood onset GLUT1 deficiency syndrome 2; Epilepsy, idiopathic generalized, susceptibility to, 12 0 9 0 1 4 0 0 5
IARS2-related disorder 0 7 0 4 1 0 0 5
IDUA-related disorder 0 9 0 1 3 0 1 5
IL17RD-related disorder 0 5 0 5 0 0 0 5
ILDR1-related disorder 0 0 0 4 2 0 0 5
IQCB1-related disorder 0 3 0 2 3 0 0 5
IREB2-related disorder 0 3 0 5 0 0 0 5
Immunodeficiency 32B; Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency 0 24 0 3 2 0 0 5
JAK1-related disorder 0 19 0 3 2 0 0 5
KANK4-related disorder 0 19 0 3 2 0 0 5
KCNA5-related disorder 0 3 0 4 1 0 0 5
KCNJ11-related disorder 0 11 0 2 1 0 2 5
KCNN4-related disorder 0 2 0 3 2 0 0 5
KCNQ5-related disorder 0 19 0 4 1 0 0 5
KDM1A-related disorder 0 9 0 3 2 0 0 5
KDM3B-related disorder 0 14 0 4 1 0 0 5
KL-related disorder 0 7 0 5 1 0 0 5
KMT5B-related disorder 0 8 0 4 1 0 0 5
KRIT1-related disorder 0 11 0 2 2 0 1 5
KRT1-related disorder 0 9 0 2 3 0 0 5
KRT16-related disorder 0 8 0 5 0 0 0 5
KRT85-related disorder 0 2 0 5 0 0 0 5
LAMP2-related disorder 0 4 0 4 3 0 0 5
LARGE1-related disorder 0 4 0 2 3 0 0 5
LARS1-related disorder 0 6 0 5 0 0 1 5
LEP-related disorder 0 8 0 2 3 0 0 5
LHCGR-related disorder 0 4 0 3 2 0 0 5
LIG1-related disorder 0 17 0 4 1 0 0 5
LPIN1-related disorder 0 17 0 4 1 0 0 5
LRP6-related disorder 0 6 0 4 2 0 0 5
LRTOMT-related disorder 0 5 0 4 1 0 0 5
LZTFL1-related disorder 0 26 0 3 2 0 0 5
LZTS1-related disorder 0 13 0 4 1 0 0 5
Left ventricular hypertrophy 0 6 0 0 3 0 2 5
MANBA-related disorder 0 3 0 2 3 0 0 5
MAP2K1-related disorder 0 10 0 4 1 0 0 5
MATR3-related disorder 0 6 0 3 3 0 0 5
MC3R-related disorder 0 13 0 2 2 0 1 5
MCM4-related disorder 0 9 0 4 1 0 0 5
MED17-related disorder 0 5 0 5 0 0 0 5
MEN1-related disorder 0 23 0 1 2 0 2 5
MLPH-related disorder 0 12 0 5 1 0 0 5
MOCS1-related disorder 0 9 0 3 3 0 0 5
MPI-related disorder 0 1 0 3 2 0 1 5
MYCN-related disorder 0 8 0 2 2 0 1 5
MYO16-related disorder 0 22 0 5 0 0 0 5
MYOC-related disorder 0 4 0 4 1 0 2 5
MYT1-related disorder 0 10 0 5 0 0 0 5
NAA10-related disorder 0 4 0 4 1 0 1 5
NCAPD3-related disorder 0 8 0 3 2 0 0 5
NCF2-related disorder 0 1 0 3 2 0 0 5
NDRG1-related disorder 0 3 0 2 3 0 0 5
NDST1-related disorder 0 6 0 4 1 0 0 5
NDUFAF5-related disorder 0 5 0 4 1 0 0 5
NEXN-related disorder 0 10 0 1 4 0 0 5
NF2-related disorder 0 9 0 1 4 0 0 5
NHERF1-related disorder 0 6 0 3 2 0 0 5
NKX3-2-related disorder 0 3 0 3 2 0 0 5
NNT-related disorder 0 11 0 4 1 0 0 5
NOS1-related disorder 0 14 0 4 1 0 0 5
NPC2-related disorder 0 1 0 0 5 0 0 5
NRAS-related disorder 0 5 0 5 1 0 0 5
Nephrotic range proteinuria 0 1 2 2 0 0 2 5
Nonsyndromic cleft lip palate 0 0 0 0 0 0 5 5
Nuclear pulverulent cataract 0 2 0 3 0 0 2 5
OAS1-related disorder 0 6 0 4 1 0 0 5
OCRL-related disorder 0 1 0 2 3 0 0 5
OGDHL-related disorder 0 3 0 5 0 0 0 5
OPTN-related disorder 0 11 0 4 1 0 0 5
OSGEP-related disorder 0 2 0 4 1 0 0 5
P3H1-related disorder 0 10 0 2 3 0 0 5
PARS2-related disorder 0 2 0 4 1 0 0 5
PAX1-related disorder 0 7 0 5 0 0 0 5
PC-related disorder 0 11 0 2 2 0 1 5
PCDH12-related disorder 0 9 0 5 0 0 0 5
PDE3A-related disorder 0 8 0 5 0 0 0 5
PDHX-related disorder 0 6 0 4 2 0 0 5
PEX16-related disorder 0 9 0 0 5 0 0 5
PEX3-related disorder 0 8 0 1 4 0 0 5
PGAP3-related disorder 0 3 0 3 2 0 0 5
PHF6-related disorder 0 3 0 0 4 0 1 5
PIBF1-related disorder 0 3 0 4 0 0 1 5
PLEKHG2-related disorder 0 14 0 3 1 0 1 5
PLG-related disorder 0 13 0 4 2 0 0 5
PLS3-related disorder 0 0 0 4 1 0 0 5
PLXNB1-related disorder 0 8 0 5 0 0 0 5
POT1-related disorder 0 12 0 2 3 0 0 5
PPCS-related disorder 0 5 0 5 1 0 0 5
PPP1R15B-related disorder 0 5 0 2 3 0 0 5
PPP2R5D-related disorder 0 10 0 2 3 0 0 5
PQBP1-related disorder 0 4 0 3 3 0 0 5
PRKAG2-related disorder 0 8 0 1 4 0 0 5
PRKDC-related disorder 0 5 0 3 3 0 0 5
PRMT7-related disorder 0 6 0 4 1 0 0 5
PROK2-related disorder 0 4 0 0 2 0 3 5
PROP1-related disorder 0 2 0 2 4 0 0 5
PROS1-related disorder 0 7 0 3 3 0 0 5
PRPF4-related disorder 0 1 0 5 0 0 0 5
PRPF8-related disorder 0 7 0 4 1 0 1 5
PRPH-related disorder 0 0 0 4 1 0 0 5
PSEN2-related disorder 0 3 0 0 4 0 1 5
PTPRC-related disorder 0 7 0 2 5 0 0 5
PURA-related disorder 0 4 0 5 0 0 0 5
Parkinson disease 11, autosomal dominant, susceptibility to 0 5 0 2 0 0 3 5
RARS1-related disorder 0 3 0 3 2 0 0 5
RARS2-related disorder 0 7 0 4 0 0 1 5
RBBP8-related disorder 0 8 0 3 2 0 0 5
RBM10-related disorder 0 7 0 4 1 0 0 5
RDX-related disorder 0 4 0 4 1 0 0 5
REV3L-related disorder 0 17 0 5 0 0 0 5
RGS9-related disorder 0 5 0 3 2 0 0 5
RIPOR2-related disorder 0 12 0 4 1 0 0 5
RLBP1-related disorder 0 8 0 4 1 0 0 5
RMRP-related disorder 0 5 0 1 3 0 1 5
RNASEH1-related disorder 0 10 0 4 1 0 0 5
ROBO3-related disorder 0 12 0 4 1 0 0 5
RP1-related disorder 0 20 0 3 3 0 0 5
RPE65-related disorder 0 8 0 4 0 0 1 5
SAG-related disorder 0 11 0 2 3 0 0 5
SASH1-related disorder 0 5 0 5 0 0 0 5
SBF2-related disorder 0 7 0 3 3 0 0 5
SCN1B-related disorder 0 7 0 5 1 0 0 5
SEMA3C-related disorder 0 12 0 4 1 0 0 5
SERPING1-related disorder 0 11 0 1 4 0 0 5
SGCD-related disorder 0 3 0 3 4 0 0 5
SIL1-related disorder 0 3 0 5 1 0 0 5
SKIC2-related disorder 0 14 0 4 1 0 0 5
SLC22A5-related disorder 0 11 0 2 2 0 1 5
SLC2A9-related disorder 0 6 0 4 0 0 1 5
SLC34A1-related disorder 0 15 0 3 1 0 2 5
SLC38A8-related disorder 0 14 0 5 0 0 0 5
SLC4A11-related disorder 0 12 0 5 0 0 0 5
SLC52A2-related disorder 0 3 0 1 4 0 0 5
SLC5A5-related disorder 0 8 0 5 0 0 0 5
SLCO2A1-related disorder 0 6 0 5 0 0 0 5
SLIT2-related disorder 0 22 0 3 2 0 0 5
SOD1-related disorder 0 12 0 3 0 0 3 5
SOX17-related disorder 0 5 0 5 0 0 0 5
SOX4-related disorder 0 6 0 5 0 0 0 5
SPINK1-related disorder 0 3 0 2 3 0 0 5
SRP54-related disorder 0 2 0 5 0 0 0 5
ST14-related disorder 0 7 0 4 1 0 0 5
Semidominant ALPL-related disorders 0 4 0 5 0 0 1 5
Susceptibility to severe COVID-19 0 0 1 0 0 0 5 5
TANC2-related disorder 0 16 0 4 1 0 0 5
TBX20-related disorder 0 7 0 4 1 0 0 5
TCF4-related disorder 0 9 0 3 4 0 0 5
TGM5-related disorder 0 6 0 4 1 0 0 5
THRB-related disorder 0 10 0 3 0 0 2 5
TINF2-related disorder 0 4 0 3 1 0 1 5
TNFRSF13B-related disorder 0 7 0 3 0 0 3 5
TNK2-related disorder 0 4 0 4 1 0 0 5
TRAK1-related disorder 0 20 0 5 0 0 0 5
TRIM8-related disorder 0 6 0 5 0 0 0 5
TSEN2-related disorder 0 5 0 5 1 0 0 5
TTBK2-related disorder 0 7 0 4 1 0 0 5
TTC7A-related disorder 0 11 0 3 2 0 0 5
TTC8-related disorder 0 8 0 2 3 0 0 5
TTLL5-related disorder 0 16 0 3 1 0 1 5
TXNRD2-related disorder 0 13 0 2 3 0 0 5
Tamoxifen response 0 0 0 0 0 5 0 5
Thalidomide response 0 0 0 0 0 5 0 5
UCP3-related disorder 0 39 0 2 3 0 0 5
UPB1-related disorder 0 2 0 3 0 0 2 5
UTP4-related disorder 0 19 0 3 3 0 0 5
VDR-related disorder 0 5 0 3 2 0 0 5
WAS-related disorder 0 6 0 3 3 0 0 5
WDR1-related disorder 0 19 0 4 1 0 0 5
WDR72-related disorder 0 0 0 1 4 0 0 5
WNK1-related disorder 0 7 0 1 4 0 0 5
WNK4-related disorder 0 7 0 5 1 0 0 5
XPC-related disorder 0 9 0 3 2 0 0 5
XPO1-associated Neurodevelopmental Disorder 0 0 0 0 0 0 5 5
ZFPM2-related disorder 0 1 0 4 3 0 0 5
ZFYVE26-related disorder 0 7 0 2 3 0 0 5
ZNF462-related disorder 0 22 0 5 0 0 0 5
ACAT1-related disorder 0 0 0 2 1 0 1 4
ACOX1-related disorder 0 5 0 2 2 0 0 4
ACTG2-related disorder 0 1 0 2 0 0 2 4
ADA-related disorder 0 7 0 2 2 0 1 4
ADAM22-related disorder 0 12 0 3 1 0 0 4
ADAT3-related disorder 0 4 0 0 4 0 0 4
ADGRL2-related disorder 0 1 0 4 0 0 0 4
ADSL-related disorder 0 4 0 2 2 0 0 4
AFF2-related disorder 0 7 0 2 2 0 0 4
AFG3L2-related disorder 0 6 0 2 3 0 1 4
AGBL5-related disorder 0 2 0 3 1 0 0 4
AGK-related disorder 0 5 0 3 1 0 0 4
AGO1-related disorder 0 5 0 4 0 0 0 4
AGT-related disorder 0 8 0 4 1 0 0 4
AIFM1-related disorder 0 6 0 2 1 0 1 4
ALDH3A2-related disorder 0 4 0 4 1 0 0 4
ALG6-related disorder 0 2 0 4 0 0 0 4
ALKBH8-related disorder 0 6 0 3 1 0 0 4
ANKLE2-related disorder 0 7 0 2 2 0 0 4
ANKRD1-related disorder 0 8 0 3 1 0 0 4
ANKS6-related disorder 0 6 0 0 4 0 0 4
AP4E1-related disorder 0 4 0 3 1 0 0 4
AP4M1-related disorder 0 5 0 0 4 0 0 4
APP-related disorder 0 11 0 2 1 0 1 4
ARSG-related disorder 0 17 0 2 2 0 0 4
ATP10A-related disorder 0 8 0 4 0 0 0 4
ATP2A3-related disorder 0 6 0 4 0 0 0 4
ATP5F1A-related disorder 0 4 0 3 1 0 1 4
ATP6V0A4-related disorder 0 7 0 3 1 0 0 4
ATP6V1A-related disorder 0 7 0 3 1 0 0 4
Autosomal recessive USH2A-related disorders 0 2 0 4 0 0 1 4
BAG3-related disorder 0 20 0 3 2 0 0 4
BBIP1-related disorder 0 18 0 0 4 0 0 4
BBS2-related disorder 0 22 0 0 4 0 0 4
BBS5-related disorder 0 3 0 2 1 0 1 4
BCKDHB-related disorder 0 2 0 2 0 0 2 4
BDNF-related disorder 0 10 0 1 3 0 0 4
BDP1-related disorder 0 17 0 3 1 0 0 4
BGN-related disorder 0 8 0 2 2 0 0 4
BLOC1S3-related disorder 0 6 0 2 2 0 0 4
BMP1-related disorder 0 20 0 4 0 0 0 4
BMPER-related disorder 0 2 0 4 0 0 0 4
C1S-related disorder 0 17 0 2 2 0 0 4
CA4-related disorder 0 6 0 1 3 0 1 4
CABP2-related disorder 0 1 0 4 1 0 0 4
CANT1-related disorder 0 5 0 3 2 0 0 4
CAPN12-related disorder 0 17 0 4 0 0 0 4
CAPN15-related disorder 0 20 0 3 1 0 0 4
CASQ1-related disorder 0 4 0 3 1 0 0 4
CCDC40-related disorder 0 4 0 0 4 0 0 4
CCDC50-related disorder 0 2 0 3 1 0 0 4
CCN6-related disorder 0 6 0 2 2 0 0 4
CCND2-related disorder 0 1 0 3 0 0 1 4
CD164-related disorder 0 4 0 3 1 0 0 4
CDC45-related disorder 0 3 0 3 2 0 0 4
CDSN-related disorder 0 11 0 4 0 0 0 4
CEACAM16-related disorder 0 9 0 3 1 0 0 4
CENPE-related disorder 0 11 0 4 0 0 0 4
CEP78-related disorder 0 8 0 4 0 0 0 4
CFAP43-related disorder 0 1 0 3 1 0 0 4
CHRNA1-related disorder 0 2 0 2 2 0 0 4
CHRNG-related disorder 0 8 0 1 2 0 1 4
CKAP2L-related disorder 0 5 0 4 0 0 0 4
CLN3-related disorder 0 3 0 1 3 0 0 4
CNGB3-related disorder 0 11 0 1 3 0 0 4
COG8-related disorder 0 1 0 2 2 0 0 4
COX15-related disorder 0 2 0 2 2 0 0 4
CPE-related disorder 0 14 0 3 1 0 0 4
CRELD1-related disorder 0 5 0 2 0 0 2 4
CRYM-related disorder 0 1 0 2 2 0 0 4
CTH-related disorder 0 0 0 4 0 0 1 4
CTNS-related disorder 0 6 0 2 2 0 0 4
CUL3-related disorder 0 4 0 3 0 0 1 4
CWC27-related disorder 0 8 0 3 1 0 0 4
CYB5R3-related disorder 0 7 0 2 2 0 0 4
CYFIP2-related disorder 0 10 0 3 1 0 0 4
CYP11A1-related disorder 0 4 0 4 0 0 0 4
CYP11B2-related disorder 0 4 0 3 0 0 2 4
CYP1B1-related disorder 0 8 0 2 2 0 1 4
CYP2C19: no function 0 0 0 0 0 4 0 4
CYP2U1-related disorder 0 3 0 1 1 0 2 4
CYP4F22-related disorder 0 4 0 2 2 0 0 4
Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Congenital multicore myopathy with external ophthalmoplegia; Congenital myopathy with fiber type disproportion 0 14 0 1 3 0 0 4
Cleft lip with or without cleft palate 0 0 0 2 0 0 2 4
Congenital hyperammonemia, type I; Pulmonary hypertension, neonatal, susceptibility to 0 12 0 4 0 0 0 4
Creatine deficiency syndrome 1 0 24 0 2 2 0 0 4
DDR2-related disorder 0 1 0 3 1 0 0 4
DGKD-related disorder 0 7 0 4 1 0 0 4
DIP2B-related disorder 0 3 0 3 2 0 0 4
DISC1-related disorder 0 8 0 4 0 0 0 4
DLG4-related disorder 0 5 0 4 0 0 0 4
DLL3-related disorder 0 8 0 3 1 0 1 4
DLL4-related disorder 0 4 0 4 0 0 0 4
DNAH6-related disorder 0 17 0 4 0 0 0 4
DNAJB6-related disorder 0 0 0 0 4 0 0 4
DNM1-related disorder 0 8 0 3 0 0 1 4
DOCK7-related disorder 0 6 0 1 3 0 0 4
DONSON-related disorder 0 8 0 2 2 0 0 4
DSPP-related disorder 0 6 0 2 2 0 0 4
DSTYK-related disorder 0 10 0 2 2 0 0 4
DYRK1A-related disorder 0 8 0 4 0 0 0 4
Dermatitis, atopic, 2, susceptibility to 0 0 4 2 0 0 0 4
Dilated and arrhythmogenic cardiomyopathy 0 3 0 3 0 0 2 4
Dominant beta-thalassemia; Fetal hemoglobin quantitative trait locus 1; Heinz body anemia; Hb SS disease; alpha Thalassemia; Malaria, susceptibility to; beta Thalassemia; METHEMOGLOBINEMIA, BETA TYPE; Erythrocytosis, familial, 6 0 6 0 3 0 0 1 4
EEF1A2-related disorder 0 6 0 4 0 0 0 4
EIF3F-related disorder 0 3 0 2 2 0 0 4
ELOVL4-related disorder 0 1 0 1 3 0 1 4
ELP2-related disorder 0 9 0 3 2 0 0 4
EPB42-related disorder 0 2 0 0 4 0 0 4
ERBB3-related disorder 0 4 0 4 1 0 0 4
ERCC1-related disorder 0 0 0 3 1 0 1 4
ERCC3-related disorder 0 6 0 4 1 0 0 4
ERCC8-related disorder 0 1 0 3 1 0 0 4
EXT1-related disorder 0 5 0 2 2 0 0 4
Encephalopathy 0 3 0 3 1 1 1 4
F13A1-related disorder 0 4 0 3 1 0 0 4
FAM161A-related disorder 0 9 0 3 3 0 0 4
FARSA-related disorder 0 1 0 3 1 0 0 4
FASTING PLASMA GLUCOSE LEVEL QUANTITATIVE TRAIT LOCUS 5 0 6 0 0 1 1 2 4
FERMT1-related disorder 0 15 0 4 0 0 0 4
FERMT3-related disorder 0 4 0 1 3 0 0 4
FGA-related disorder 0 8 0 2 0 0 2 4
FHOD3-related disorder 0 1 0 3 1 0 0 4
FITM2-related disorder 0 1 0 3 1 0 0 4
FOLR1-related disorder 0 2 0 2 4 0 0 4
FOXA2-related disorder 0 5 0 4 0 0 0 4
FRRS1L-related disorder 0 1 0 4 0 0 0 4
FZD5-related disorder 0 5 0 4 0 0 0 4
Familial Autism Spectrum Disorder 0 0 0 0 1 0 3 4
G6PC1-related disorder 0 2 0 2 2 0 0 4
GALNS-related disorder 0 6 0 4 0 0 0 4
GALNT2-related disorder 0 5 0 3 1 0 0 4
GALT-related disorder 0 12 0 3 1 1 2 4
GAN-related disorder 0 4 0 2 2 0 0 4
GAS2L2-related disorder 0 4 0 2 2 0 0 4
GATAD2B-related disorder 0 7 0 3 1 0 0 4
GCSH-related disorder 0 2 0 3 1 0 0 4
GEMIN4-related disorder 0 14 0 3 2 0 0 4
GEN1-related disorder 0 5 0 2 2 0 0 4
GIPC3-related disorder 0 5 0 3 2 0 0 4
GJB1-related disorder 0 1 0 2 1 0 1 4
GLE1-related disorder 0 3 0 2 2 0 0 4
GLIS2-related disorder 0 3 0 1 3 0 0 4
GNA11-related disorder 0 5 0 4 0 0 0 4
GRID2-related disorder 0 5 0 3 1 0 0 4
GRXCR1-related disorder 0 2 0 4 0 0 0 4
GTF2IRD1-related disorder 0 13 0 4 0 0 0 4
GUF1-related disorder 0 13 0 1 3 0 0 4
Global developmental delay; Seizure 0 4 0 1 0 0 3 4
Glutamine synthetase stabilization disorder 0 0 0 2 0 0 2 4
Glutaric acidemia type 2A 0 8 0 2 2 0 0 4
H6PD-related disorder 0 5 0 3 1 0 0 4
HBA1-related disorder 0 5 0 1 3 0 0 4
HCCS-related disorder 0 3 0 4 2 0 0 4
HEXA-related disorder 0 9 0 3 1 0 0 4
HGSNAT-related disorder 0 3 0 1 3 0 1 4
HIP1-related disorder 0 7 0 4 0 0 0 4
HMBS-related disorder 0 11 0 4 1 0 0 4
HOGA1-related disorder 0 3 0 3 0 0 1 4
HOXD13-related disorder 0 5 0 3 2 0 0 4
HSD3B2-related disorder 0 8 0 3 1 0 0 4
HSF4-related disorder 0 1 0 2 1 0 1 4
HSPB1-related disorder 0 4 0 3 1 0 0 4
Herpes simplex encephalitis, susceptibility to, 4 0 17 0 2 2 0 1 4
Hirschsprung disease, susceptibility to, 4 0 11 0 3 1 0 2 4
Hyperphenylalaninemia 0 20 0 3 0 0 3 4
IFITM5-related disorder 0 4 0 1 3 0 0 4
IL12RB2-related disorder 0 21 0 3 1 0 0 4
IL17RC-related disorder 0 6 0 3 1 0 0 4
IL2RB-related disorder 0 14 0 2 2 0 0 4
IL6R-related disorder 0 12 0 3 1 0 0 4
IL7R-related disorder 0 1 0 4 0 0 0 4
INPPL1-related disorder 0 8 0 3 1 0 0 4
INTU-related disorder 0 13 0 2 2 0 1 4
IQCE-related disorder 0 7 0 4 0 0 0 4
IRF2BP2-related disorder 0 20 0 3 1 0 0 4
Immunodeficiency 83, susceptibility to viral infections 0 0 0 1 0 0 3 4
Irinotecan response 0 0 0 0 0 4 0 4
JAG2-related disorder 0 18 0 3 1 0 0 4
KANK2-related disorder 0 20 0 3 1 0 0 4
KBTBD13-related disorder 0 0 0 3 1 0 0 4
KCNC1-related disorder 0 4 0 4 0 0 0 4
KCND3-related disorder 0 1 0 1 3 0 0 4
KCNE1-related disorder 0 2 0 1 3 0 0 4
KIAA0753-related disorder 0 10 0 4 0 0 0 4
KIF21A-related disorder 0 7 0 3 0 0 1 4
KIF22-related disorder 0 3 0 2 2 0 0 4
KRT17-related disorder 0 5 0 3 1 0 0 4
L2HGDH-related disorder 0 1 0 4 0 0 0 4
LAGE3-related disorder 0 4 0 2 2 0 0 4
LARP7-related disorder 0 3 0 3 1 0 0 4
LEMD3-related disorder 0 7 0 2 2 0 0 4
LIG4-related disorder 0 5 0 2 2 0 0 4
LIMK1-related disorder 0 4 0 4 0 0 0 4
LPIN2-related disorder 0 10 0 3 1 0 0 4
LRIT3-related disorder 0 6 0 4 1 0 0 4
LRP1-related disorder 0 14 0 4 0 0 0 4
Lambdoidal craniosynostosis 0 5 0 4 0 0 1 4
MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO 0 0 2 0 0 0 2 4
MAFB-related disorder 0 7 0 1 3 0 0 4
MARS2-related disorder 0 7 0 3 1 0 0 4
MARVELD2-related disorder 0 4 0 3 2 0 0 4
MBD5 associated neurodevelopmental disorder 0 0 0 2 0 1 3 4
MC1R-related disorder 0 0 0 3 2 0 0 4
MCCC1-related disorder 0 6 0 4 0 0 0 4
MCCC2-related disorder 0 7 0 4 0 0 0 4
MED13-related disorder 0 18 0 4 0 0 0 4
MED23-related disorder 0 1 0 3 1 0 0 4
MEF2C-related disorder 0 5 0 3 1 0 0 4
MEGF8-related disorder 0 9 0 1 3 0 0 4
MEPHENYTOIN, POOR METABOLISM OF 0 0 0 0 0 4 0 4
MFRP-related disorder 0 2 0 1 3 0 0 4
MIB1-related disorder 0 6 0 1 1 0 2 4
MMADHC-related disorder 0 1 0 1 3 0 0 4
MPZ-related disorder 0 7 0 3 1 0 0 4
MRPS34-related disorder 0 7 0 4 0 0 0 4
MTFMT-related disorder 0 6 0 4 0 0 0 4
MTO1-related disorder 0 5 0 3 2 0 0 4
MTPAP-related disorder 0 3 0 4 0 0 0 4
MYCBP2-related disorder 0 12 0 4 0 0 0 4
MYH10-related disorder 0 0 0 4 0 0 0 4
MYO1A-related disorder 0 3 0 1 3 0 0 4
Macular dystrophy with or without extraocular features 0 1 0 4 0 0 0 4
Mandibulofacial dysostosis with alopecia; Migraine with or without aura, susceptibility to, 1 0 3 0 4 0 0 0 4
NCAPD2-related disorder 0 5 0 3 1 0 0 4
NCKAP1L-related disorder 0 2 0 2 2 0 0 4
NCOR1-related disorder 0 14 0 3 1 0 0 4
NDE1-related disorder 0 4 0 3 1 0 0 4
NDUFA9-related disorder 0 3 0 3 1 0 0 4
NDUFS3-related disorder 0 3 0 2 2 0 0 4
NEUROD1-related disorder 0 5 0 2 1 0 1 4
NFKB1-related disorder 0 16 0 3 1 0 0 4
NHLRC2-related disorder 0 1 0 2 2 0 0 4
NOS3-related disorder 0 9 0 4 0 0 0 4
NR3C1-related disorder 0 1 0 3 1 0 0 4
NRG1-related disorder 0 5 0 4 0 0 0 4
NRP2-related disorder 0 18 0 2 2 0 0 4
NSMF-related disorder 0 4 0 4 0 0 0 4
NUBPL-related disorder 0 4 0 3 2 0 0 4
OPTIC ATROPHY 9, AUTOSOMAL RECESSIVE 0 0 0 1 0 0 4 4
OTC-related disorder 0 2 0 1 0 0 3 4
P3H2-related disorder 0 12 0 3 1 0 0 4
PAFAH1B1-related disorder 0 3 0 3 0 0 1 4
PANK2-related disorder 0 1 0 3 1 0 0 4
PAX6-related disorder 0 6 0 3 1 0 0 4
PCCA-related disorder 0 9 0 2 2 0 0 4
PDE10A-related disorder 0 8 0 3 1 0 0 4
PDE1C-related disorder 0 3 0 4 0 0 0 4
PDX1-related disorder 0 10 0 3 1 0 0 4
PET100-related disorder 0 1 0 3 1 0 0 4
PGM1-related disorder 0 6 0 2 2 0 0 4
PHF21A-related disorder 0 10 0 3 1 0 0 4
PHOX2B-related disorder 0 12 0 1 3 0 0 4
PIK3C2A-related disorder 0 17 0 3 1 0 0 4
PKD1-Biallelic Autosomal Recessive Polycystic Kidney Disease 0 6 0 2 0 0 3 4
PLA2G6-related disorder 0 4 0 3 1 0 0 4
PLOD1-related disorder 0 11 0 1 3 0 0 4
PLOD3-related disorder 0 22 0 3 2 0 0 4
PNKD-related disorder 0 6 0 4 1 0 0 4
PNPLA6-related disorder 0 7 0 3 1 0 0 4
POLG2-related disorder 0 6 0 3 2 0 0 4
POLH-related disorder 0 4 0 3 2 0 0 4
POMT2-related disorder 0 5 0 0 4 0 0 4
POU1F1-related disorder 0 2 0 1 2 0 1 4
POU3F4-related disorder 0 0 0 3 0 0 1 4
POU4F3-related disorder 0 2 0 2 3 0 0 4
PPA2-related disorder 0 2 0 3 0 0 1 4
PPFIA3-related disorder 0 1 0 2 0 1 3 4
PPM1D-related disorder 0 1 0 1 1 0 3 4
PRDM13-related disorder 0 6 0 4 0 0 0 4
PRDM5-related disorder 0 11 0 2 2 0 0 4
PREX2-related disorder 0 10 0 4 0 0 0 4
PRF1-related disorder 0 4 0 2 1 0 2 4
PRICKLE1-related disorder 0 7 0 1 3 0 0 4
PRKCSH-related disorder 0 7 0 4 0 0 0 4
PROKR2-related disorder 0 5 0 3 1 0 1 4
PRPF3-related disorder 0 3 0 2 3 0 0 4
PRPF6-related disorder 0 11 0 4 0 0 0 4
PSAP-related disorder 0 2 0 2 2 0 0 4
PTH1R-related disorder 0 5 0 3 1 0 1 4
Palmoplantar keratodermas 0 4 0 2 0 0 3 4
Pancreatic hypoplasia 0 1 0 2 3 0 0 4
Pheochromocytoma, susceptibility to 0 0 3 1 0 0 0 4
Pneumothorax - familial 0 4 0 4 0 0 0 4
Pseudoexfoliation glaucoma 0 0 0 0 2 0 3 4
QRICH2-related disorder 0 4 0 3 1 0 0 4
RAD51-related disorder 0 7 0 2 3 0 1 4
RAD51B-related disorder 0 4 0 3 1 0 0 4
RELA-related disorder 0 9 0 4 0 0 0 4
RFX6-related disorder 0 16 0 2 3 0 0 4
RNF216-related disorder 0 7 0 4 0 0 0 4
RPL19-related disorder 0 1 0 4 0 0 0 4
RPS6KA3-related disorder 0 12 0 4 0 0 0 4
Rare venous malformation 0 0 0 4 0 0 1 4
Reclassified - variant of unknown significance 0 1 0 0 2 0 3 4
Rhabdomyolysis 0 2 0 2 0 0 2 4
SATB2-related disorder 0 8 0 4 0 0 0 4
SDHC-related disorder 0 10 0 1 3 0 0 4
SDHD-related disorder 0 8 0 2 3 0 0 4
SEC24D-related disorder 0 10 0 4 0 0 0 4
SEC63-related disorder 0 6 0 3 1 0 0 4
SEMA5A-related disorder 0 7 0 4 0 0 0 4
SHOC2-related disorder 0 4 0 3 1 0 1 4
SLC11A2-related disorder 0 3 0 2 2 0 0 4
SLC25A1-related disorder 0 1 0 2 2 0 0 4
SLC25A12-related disorder 0 6 0 3 1 0 0 4
SLC25A19-related disorder 0 3 0 0 4 0 0 4
SLC25A38-related disorder 0 1 0 4 0 0 0 4
SLC29A3-related disorder 0 4 0 3 1 0 0 4
SLC36A2-related disorder 0 6 0 3 1 0 0 4
SLC39A13-related disorder 0 4 0 1 3 0 0 4
SLC39A14-related disorder 0 2 0 3 1 0 0 4
SLC3A1-related disorder 0 3 0 2 2 0 0 4
SLC44A4-related disorder 0 6 0 3 1 0 0 4
SLC46A1-related disorder 0 7 0 2 2 0 0 4
SMAD2-related disorder 0 5 0 3 1 0 0 4
SMARCD2-related disorder 0 7 0 3 1 0 0 4
SOX3-related disorder 0 5 0 1 3 0 0 4
SPARC-related disorder 0 7 0 2 2 0 0 4
SPATA7-related disorder 0 1 0 3 1 0 1 4
SPRY4-related disorder 0 4 0 2 2 0 0 4
SQSTM1-related disorder 0 30 0 2 2 0 0 4
SRPX2-related disorder 0 2 0 3 2 0 0 4
STAG2-related disorder 0 9 0 4 0 0 0 4
STAT1-related disorder 0 12 0 2 2 0 0 4
STK36-related disorder 0 10 0 3 1 0 0 4
SUCLA2-related disorder 0 3 0 0 4 0 0 4
Skin/hair/eye pigmentation 2, red hair/fair skin 0 0 0 0 0 4 0 4
Supraventricular tachycardia 0 2 0 3 2 0 0 4
Syndromic retinitis pigmentosa 0 0 1 1 1 0 1 4
TARDBP-related disorder 0 8 0 4 0 0 0 4
TBX18-related disorder 0 4 0 0 4 0 0 4
TBX6-related disorder 0 5 0 4 1 0 0 4
TCN2-related disorder 0 2 0 2 2 0 0 4
TFAP2A-related disorder 0 5 0 4 0 0 0 4
TGFB3-related disorder 0 14 0 1 3 0 0 4
TK2-related disorder 0 10 0 4 0 0 0 4
TLR3-related disorder 0 1 0 4 0 0 0 4
TMC1-related disorder 0 9 0 3 1 0 1 4
TNPO3-related disorder 0 2 0 1 4 0 0 4
TOP2A-related disorder 0 3 0 3 1 0 0 4
TRAPPC11-related disorder 0 4 0 3 1 0 0 4
TRAPPC12-related disorder 0 18 0 3 1 0 0 4
TRPC3-related disorder 0 5 0 1 3 0 0 4
TRPM7-related disorder 0 4 0 4 0 0 0 4
TRPS1-related disorder 0 6 0 3 1 0 0 4
TSEN54-related disorder 0 9 0 3 1 0 0 4
TTC19-related disorder 0 3 0 1 3 0 0 4
TUBA4A-related disorder 0 3 0 4 0 0 0 4
TUBA8-related disorder 0 7 0 3 1 0 0 4
UBE3A-related disorder 0 6 0 3 1 0 0 4
UROS-related disorder 0 5 0 4 0 0 0 4
VWA2-related disorder 0 9 0 4 0 0 0 4
Variant of unknown significance 0 7 0 0 4 0 0 4
WASHC4-related disorder 0 6 0 1 3 0 0 4
WDFY3-related disorder 0 17 0 4 0 0 0 4
WDR11-related disorder 0 5 0 3 1 0 0 4
WDR36-related disorder 0 3 0 4 0 0 0 4
WDR37-related disorder 0 3 0 2 2 0 0 4
WDR73-related disorder 0 7 0 2 2 0 0 4
WRAP53-related disorder 0 8 0 3 1 0 0 4
XIRP1-related disorder 0 21 0 4 0 0 0 4
ZBTB18-related disorder 0 2 0 2 2 0 1 4
ZC4H2-related disorder 0 0 0 3 0 0 1 4
ZFHX2-related disorder 0 8 0 4 0 0 0 4
ZIC1-related disorder 0 3 0 4 0 0 0 4
ZMYM2-related disorder 0 4 0 3 0 0 1 4
ZNF804A-related disorder 0 2 0 4 0 0 0 4
ABHD5-related disorder 0 4 0 1 2 0 0 3
ABRAXAS1-related disorder 0 6 0 3 0 0 0 3
ACBD5-related disorder 0 7 0 1 2 0 0 3
ACSF3-related disorder 0 5 0 3 1 0 1 3
ACTC1-related disorder 0 9 0 1 0 0 2 3
ACVR1-related disorder 0 4 0 2 1 0 0 3
AFG2A-related disorder 0 6 0 0 2 0 1 3
AGTR2-related disorder 0 1 0 1 2 0 0 3
AHR-related disorder 0 9 0 3 0 0 0 3
AKT1-related disorder 0 2 0 2 1 0 0 3
ALDH2-related disorder 0 2 0 3 0 0 0 3
ALDOA-related disorder 0 2 0 1 2 0 0 3
ALOX12B-related disorder 0 6 0 3 1 0 0 3
AMPD3-related disorder 0 2 0 2 1 0 0 3
ANG-related disorder 0 5 0 1 2 0 0 3
AP2M1-related disorder 0 4 0 2 1 0 0 3
APAF1-related disorder 0 5 0 3 0 0 0 3
APOL1-related disorder 0 9 0 3 0 0 0 3
APTX-related disorder 0 3 0 2 1 0 0 3
ARHGEF10-related disorder 0 20 0 3 0 0 0 3
ARHGEF28-related disorder 0 7 0 2 1 0 0 3
ARV1-related disorder 0 2 0 2 1 0 0 3
ASB10-related disorder 0 2 0 3 0 0 0 3
ASCC1-related disorder 0 5 0 2 1 0 0 3
ASS1-related disorder 0 5 0 2 1 0 0 3
ATP11A-related disorder 0 3 0 3 0 0 0 3
ATP2B3-related disorder 0 3 0 3 0 0 0 3
ATXN1-related disorder 0 1 0 1 2 0 0 3
Abnormal corpus callosum morphology 0 0 0 0 2 0 1 3
Abnormal retinal morphology 0 0 0 2 1 0 0 3
Amyotrophic lateral sclerosis, susceptibility to 0 2 0 0 0 0 3 3
Autistic behavior; Moderate global developmental delay 0 0 0 3 0 1 1 3
Autistic behavior; Severe global developmental delay 0 0 0 3 0 1 1 3
Autosomal dominant CACNA1A-related disorders 0 1 0 3 0 0 0 3
Autosomal dominant COL2A1-related disorders 0 4 0 3 0 0 0 3
Autosomal dominant PTPN11-related disorders 0 11 0 2 0 0 2 3
Autosomal recessive ABCA4-related disorders 0 3 1 2 0 0 1 3
Autosomal recessive ANO5-related disorders 0 0 0 2 0 0 1 3
B4GALNT1-related disorder 0 4 0 2 1 0 0 3
BFSP1-related disorder 0 3 0 2 1 0 0 3
BLOOD GROUP, SID SYSTEM 0 0 0 0 0 2 1 3
BMP4-related disorder 0 1 0 0 2 0 1 3
BMP5-related disorder 0 1 0 3 0 0 0 3
BMP6-related disorder 0 0 0 3 0 0 0 3
BMPR1B-related disorder 0 4 0 1 2 0 0 3
BMPR2-related disorder 0 4 0 2 0 0 1 3
BRD2-related disorder 0 7 0 2 1 0 0 3
BSN-related disorder 0 6 0 2 1 0 0 3
BSND-related disorder 0 5 0 2 1 0 0 3
BUB1-related disorder 0 6 0 2 1 0 0 3
BVES-related disorder 0 1 0 3 0 0 0 3
Basal cell carcinoma, susceptibility to, 1; Capillary malformation-arteriovenous malformation 1 0 5 0 3 0 0 0 3
Behavior disorder 0 11 0 1 2 0 0 3
Bernard Soulier syndrome; Bernard-Soulier syndrome, type A2, autosomal dominant; Nonarteritic anterior ischemic optic neuropathy, susceptibility to; Pseudo von Willebrand disease 0 5 0 3 0 0 0 3
Breast cancer, early-onset 0 3 0 1 1 0 3 3
C1QBP-related disorder 0 9 0 1 2 0 0 3
C1QTNF5-related disorder 0 2 0 1 2 0 0 3
C2-related disorder 0 3 0 1 2 0 0 3
CACNA2D1-related disorder 0 10 0 2 1 0 0 3
CACNB2-related disorder 0 6 0 3 1 0 0 3
CBLB-related disorder 0 2 0 3 0 0 0 3
CBLIF-related disorder 0 3 0 2 1 0 0 3
CCDC8-related disorder 0 4 0 2 1 0 0 3
CCDC88A-related disorder 0 9 0 3 0 0 0 3
CD151-related disorder 0 6 0 2 1 0 0 3
CD19-related disorder 0 6 0 2 1 0 0 3
CD46-related disorder 0 15 0 2 2 0 1 3
CD55-related disorder 0 4 0 3 0 0 0 3
CDH15-related disorder 0 4 0 2 1 0 0 3
CDON-related disorder 0 5 0 2 1 0 0 3
CEMIP-related disorder 0 6 0 3 0 0 0 3
CEP83-related disorder 0 1 0 0 3 0 0 3
CERKL-related disorder 0 4 0 1 2 0 1 3
CFAP300-related disorder 0 2 0 3 0 0 0 3
CFP-related disorder 0 4 0 3 0 0 0 3
CHCHD10-related disorder 0 9 0 3 0 0 0 3
CHD5-related disorder 0 5 0 3 0 0 0 3
CHL1-related disorder 0 13 0 3 0 0 0 3
CHMP2B-related disorder 0 5 0 2 0 0 1 3
CHRND-related disorder 0 4 0 0 3 0 0 3
CIB2-related disorder 0 2 0 2 2 0 0 3
CISD2-related disorder 0 1 0 2 2 0 0 3
CITED2-related disorder 0 2 0 3 0 0 0 3
CLDN14-related disorder 0 1 0 2 1 0 0 3
CLN6-related disorder 0 0 0 0 2 0 1 3
CLTCL1-related disorder 0 6 0 3 0 0 0 3
CNTN2-related disorder 0 1 0 1 2 0 0 3
CNTN4-related disorder 0 8 0 3 0 0 0 3
CNTNAP1-related disorder 0 15 0 2 1 0 0 3
COG4-related disorder 0 7 0 2 1 0 0 3
COLQ-related disorder 0 1 0 0 2 0 1 3
COQ4-related disorder 0 3 0 2 1 0 0 3
COQ7-related disorder 0 6 0 2 1 0 1 3
CPA6-related disorder 0 1 0 0 3 0 0 3
CREB3L3-related disorder 0 3 0 3 0 0 0 3
CRYGD-related disorder 0 2 0 2 1 0 0 3
CSDE1-related disorder 0 2 0 3 0 0 0 3
CTBP1-related disorder 0 5 0 3 0 0 0 3
CTNNA2-related disorder 0 4 0 3 0 0 0 3
CYC1-related disorder 0 5 0 2 1 0 0 3
CYP26C1-related disorder 0 1 0 2 0 0 1 3
CYP2R1-related disorder 0 1 0 3 0 0 0 3
CYP51A1-related disorder 0 1 0 3 0 0 0 3
Canavan Disease, Familial Form 0 13 0 2 0 0 1 3
Cardiomyopathy, hypertrophic, midventricular, digenic 0 0 0 0 0 0 3 3
Clopidogrel response 0 0 0 0 0 3 0 3
DAO-related disorder 0 5 0 3 0 0 0 3
DARS1-related disorder 0 8 0 1 3 0 0 3
DBH-related disorder 0 7 0 2 1 0 0 3
DCLRE1C-related disorder 0 3 0 1 2 0 0 3
DCX-related disorder 0 1 0 3 0 0 0 3
DDC-related disorder 0 4 0 2 1 0 0 3
DDX10-related disorder 0 0 0 3 0 0 0 3
DDX59-related disorder 0 8 0 2 1 0 0 3
DE SANCTIS-CACCHIONE SYNDROME; Cerebrooculofacioskeletal syndrome 1; Cockayne syndrome type 2; Lung carcinoma; UV-sensitive syndrome 1; Age related macular degeneration 5; Premature ovarian failure 11 0 3 0 0 3 0 0 3
DHCR24-related disorder 0 2 0 2 1 0 0 3
DHPS-related disorder 0 1 0 2 0 0 1 3
DLST-related disorder 0 9 0 1 2 0 0 3
DMBT1-related disorder 0 7 0 3 0 0 0 3
DNAAF1-related disorder 0 4 0 1 2 0 0 3
DNAAF11-related disorder 0 0 0 0 2 0 1 3
DNAI1-related disorder 0 3 0 0 2 0 1 3
DNAJB13-related disorder 0 5 0 1 2 0 0 3
DNASE1-related disorder 0 1 0 2 2 0 0 3
DNM1L-related disorder 0 5 0 2 1 0 0 3
DOCK2-related disorder 0 4 0 1 2 0 0 3
DOLK-related disorder 0 4 0 2 1 0 0 3
DPF2-related disorder 0 5 0 3 0 0 0 3
DPH1-related disorder 0 3 0 3 0 0 0 3
DRC1-related disorder 0 2 0 1 2 0 0 3
DRD4-related disorder 0 5 0 3 0 0 0 3
DSCAM-related disorder 0 6 0 3 0 0 0 3
DSD incomplete virilization 0 1 0 1 1 0 2 3
DTNBP1-related disorder 0 8 0 2 1 0 0 3
DYNC2I2-related disorder 0 3 0 2 1 0 0 3
Delayed speech and language development; Abnormality of eye movement; Generalized hypotonia; Abnormal speech pattern; Delayed gross motor development; Hypotonia 0 0 0 0 3 0 0 3
Diabetes mellitus type 1; Type 1 diabetes mellitus 20; Maturity-onset diabetes of the young type 3; Type 2 diabetes mellitus 0 4 0 0 3 0 0 3
Dominant beta-thalassemia; Heinz body anemia; Hb SS disease; alpha Thalassemia; Malaria, susceptibility to; METHEMOGLOBINEMIA, BETA TYPE; Erythrocytosis, familial, 6; Hereditary persistence of fetal hemoglobin; Beta-thalassemia HBB/LCRB 0 16 0 3 0 0 0 3
Dyslexia, susceptibility to, 1; Primary ciliary dyskinesia 25 0 3 0 3 0 0 1 3
EEF2-related disorder 0 11 0 3 0 0 0 3
EGLN1-related disorder 0 1 0 3 0 0 0 3
EIF4G1-related disorder 0 5 0 3 0 0 0 3
ELANE-related disorder 0 9 0 3 0 0 0 3
EMD-related disorder 0 4 0 2 1 0 0 3
EPAS1-related disorder 0 5 0 3 1 0 0 3
EPPK1-related disorder 0 10 0 3 0 0 0 3
ESR1-related disorder 0 4 0 1 2 0 0 3
ETFB-related disorder 0 2 0 1 2 0 0 3
EXO1-related disorder 0 6 0 1 2 0 0 3
EXOC6B-related disorder 0 7 0 3 0 0 0 3
EYA1-related disorder 0 14 0 1 2 0 0 3
EYA4-related disorder 0 7 0 3 2 0 0 3
Early-infantile developmental and epileptic encephalopathy 0 5 0 3 0 0 0 3
Elevated circulating creatine kinase concentration 0 7 0 1 0 1 3 3
Epilepsy, childhood absence, susceptibility to, 5 0 1 0 0 1 0 3 3
Epilepsy, childhood absence, susceptibility to, 5; Developmental and epileptic encephalopathy, 43 0 1 0 3 0 0 0 3
Epilepsy, childhood absence, susceptibility to, 6 0 14 0 2 1 0 0 3
Epilepsy, idiopathic generalized, susceptibility to, 13; Developmental and epileptic encephalopathy, 19 0 2 0 1 0 0 2 3
Epilepsy, idiopathic generalized, susceptibility to, 9 0 1 0 0 1 0 2 3
FANCE-related disorder 0 4 0 2 1 0 0 3
FANCF-related disorder 0 2 0 2 1 0 0 3
FANCG-related disorder 0 6 0 2 1 0 1 3
FANCI-related disorder 0 9 0 0 3 0 0 3
FARSB-related disorder 0 9 0 3 0 0 0 3
FBLN5-related disorder 0 17 0 3 2 0 0 3
FBXO38-related disorder 0 4 0 3 1 0 0 3
FCHO1-related disorder 0 2 0 2 1 0 0 3
FDFT1-related disorder 0 10 0 2 1 0 0 3
FECH-related disorder 0 6 0 3 0 0 0 3
FGB-related disorder 0 5 0 1 2 0 1 3
FGF14-related disorder 0 2 0 3 0 0 0 3
FGF8-related disorder 0 2 0 3 1 0 0 3
FGFRL1-related disorder 0 19 0 2 1 0 0 3
FLAD1-related disorder 0 7 0 2 1 0 0 3
FLRT1-related disorder 0 1 0 2 1 0 0 3
FLVCR1-related disorder 0 8 0 1 2 0 0 3
FMR1-related disorder 0 3 0 1 2 0 0 3
FOXL2-related disorder 0 4 0 3 0 0 0 3
FOXP2-related disorder 0 5 0 2 1 0 0 3
FOXRED1-related disorder 0 6 0 2 2 0 0 3
FPR1-related disorder 0 2 0 2 1 0 0 3
FRMD7-related disorder 0 0 0 3 0 0 0 3
FRYL-related developmental disorder 0 0 0 0 0 0 3 3
FXYD2-related disorder 0 1 0 2 1 0 0 3
Factor V deficiency; Ischemic stroke; Thrombophilia due to activated protein C resistance; Budd-Chiari syndrome; Pregnancy loss, recurrent, susceptibility to, 1 0 2 0 3 0 0 0 3
Familial Atypical Hemolytic-Uremic Syndrome 0 2 0 2 0 0 1 3
Familial Otitis Media 0 0 0 0 0 3 0 3
Focal-onset seizure 0 1 0 2 0 1 2 3
GABRD-related disorder 0 3 0 2 1 0 0 3
GABRG2-related disorder 0 11 0 1 1 0 1 3
GALE-related disorder 0 0 0 1 1 2 0 3
GALNT3-related disorder 0 5 0 2 1 0 1 3
GATA3-related disorder 0 8 0 3 0 0 0 3
GATA6-related disorder 0 6 0 2 1 0 0 3
GCH1-related disorder 0 2 0 2 1 0 0 3
GCM2-related disorder 0 14 0 3 0 0 0 3
GDF1-related disorder 0 4 0 2 2 0 0 3
GDF6-related disorder 0 3 0 1 3 0 0 3
GFI1-related disorder 0 5 0 3 0 0 0 3
GFM2-related disorder 0 6 0 1 2 0 0 3
GJA8-related disorder 0 0 0 2 0 0 1 3
GJB6-related disorder 0 5 0 2 2 0 0 3
GJC2-related disorder 0 1 0 1 2 0 0 3
GNAT1-related disorder 0 5 0 2 1 0 0 3
GNPTAB-Related Disorders 0 7 0 2 1 0 0 3
GNPTG-related disorder 0 10 0 1 2 0 0 3
GPIHBP1-related disorder 0 4 0 1 2 0 0 3
GRHL3-related disorder 0 5 0 2 1 0 0 3
GRHPR-related disorder 0 3 0 3 0 0 0 3
GRIN1-related disorder 0 6 0 0 1 0 2 3
GUCY2C-related disorder 0 13 0 3 0 0 0 3
GYG1-related disorder 0 2 0 1 2 0 1 3
GYPC-related disorder 0 1 0 2 1 0 0 3
Gaucher disease due to saposin C deficiency; Krabbe disease due to saposin A deficiency; Combined PSAP deficiency; Sphingolipid activator protein 1 deficiency; Parkinson disease 24, autosomal dominant, susceptibility to 0 2 0 3 0 0 0 3
Genetic hearing loss 0 2 0 2 0 0 1 3
Global developmental delay; Failure to thrive 0 0 0 3 0 0 0 3
Glucocorticoid Deficiency 0 1 0 2 1 0 0 3
H1-4-related disorder 0 4 0 3 0 0 0 3
HADH-related disorder 0 1 0 1 2 0 0 3
HCN2 related developmental and epileptic encephalopathy 0 2 0 0 0 0 3 3
HELLS-related disorder 0 5 0 3 0 0 0 3
HEMOGLOBIN H HYDROPS FETALIS SYNDROME 0 0 0 0 0 3 0 3
HIBCH-related disorder 0 1 0 2 1 0 0 3
HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 6 0 0 0 0 1 2 1 3
HLCS-related disorder 0 0 0 3 0 0 0 3
HOXA13-related disorder 0 6 0 1 2 0 0 3
HPGD-related disorder 0 1 0 3 0 0 0 3
HTRA1-related disorder 0 6 0 0 3 0 0 3
HYCC1-related disorder 0 2 0 1 2 0 0 3
Hemolytic uremic syndrome, atypical, susceptibility to, 1; Age related macular degeneration 1 0 5 0 2 1 0 0 3
Herpes simplex encephalitis, susceptibility to, 3 0 13 0 3 1 0 1 3
Heterotaxy 0 3 0 2 0 0 1 3
High myopia 0 9 0 0 2 0 1 3
Hirschsprung disease, susceptibility to, 3 0 16 0 3 0 0 2 3
Hypogonadotropic hypogonadism 2 with anosmia 0 0 2 0 0 0 1 3
Hypogonadotropic hypogonadism 8 without anosmia 0 0 0 2 0 0 1 3
IDH3A-related disorder 0 5 0 3 0 0 0 3
IDH3B-related disorder 0 1 0 2 2 0 0 3
IFT52-related disorder 0 2 0 1 2 0 0 3
IGFALS-related disorder 0 7 0 3 0 0 0 3
IL10RA-related disorder 0 3 0 2 1 0 0 3
IL17RA-related disorder 0 2 0 1 2 0 0 3
IL1RAPL1-related disorder 0 2 0 3 0 0 0 3
IL23R-related disorder 0 2 0 3 0 0 0 3
IL36RN-related disorder 0 2 0 2 0 0 1 3
IMPDH1-related disorder 0 11 0 0 3 0 0 3
INO80-related disorder 0 2 0 3 0 0 0 3
IRS2-related disorder 0 0 0 3 0 0 0 3
ITGA2B-related disorder 0 8 0 2 0 0 1 3
ITGA8-related disorder 0 5 0 3 0 0 0 3
ITGAM-related disorder 0 22 0 3 0 0 0 3
ITGB2-related disorder 0 5 0 3 0 0 0 3
ITM2B-related disorder 0 2 0 2 1 0 0 3
IVD-related disorder 0 6 0 2 1 0 0 3
Immunodeficiency 33 0 2 0 1 0 0 2 3
Interferon gamma receptor deficiency 0 2 0 2 1 0 0 3
JAK3-related disorder 0 2 0 2 1 0 1 3
JMJD1C-related disorder 0 8 0 3 0 0 0 3
JPH3-related disorder 0 1 0 3 0 0 0 3
KCNA2-related disorder 0 2 0 3 1 0 0 3
KCNAB2-related disorder 0 7 0 3 0 0 0 3
KDF1-related disorder 0 4 0 3 0 0 0 3
KDM2B-related disorder 0 7 0 3 0 0 0 3
KIF14-related disorder 0 12 0 2 1 0 0 3
KIFBP-related disorder 0 2 0 2 1 0 0 3
KLB-related disorder 0 9 0 2 1 0 0 3
KLF1-related disorder 0 6 0 2 1 0 1 3
KLF4-related disorder 0 4 0 3 0 0 0 3
KLF7-related disorder 0 0 0 2 0 0 1 3
KLHL41-related disorder 0 1 0 3 0 0 0 3
KLKB1-related disorder 0 2 0 2 0 0 1 3
KLLN-related disorder 0 0 0 2 2 0 0 3
KPTN-related disorder 0 3 0 2 1 0 0 3
KRT14-related disorder 0 8 0 3 0 0 0 3
KRT6A-related disorder 0 9 0 3 0 0 0 3
KRT6B-related disorder 0 12 0 3 0 0 0 3
KRT6C-related disorder 0 11 0 3 0 0 0 3
KRT71-related disorder 0 8 0 3 0 0 0 3
KRT83-related disorder 0 6 0 3 0 0 0 3
LHFPL5-related disorder 0 4 0 1 2 0 0 3
LHX4-related disorder 0 5 0 3 0 0 0 3
LIPC-related disorder 0 2 0 2 1 0 0 3
LOXL3-related disorder 0 11 0 1 2 0 0 3
LRIG2-related disorder 0 6 0 2 1 0 0 3
LRPAP1-related disorder 0 7 0 3 0 0 0 3
LSS-related disorder 0 12 0 2 0 0 1 3
LTBP3-related disorder 0 11 0 1 2 0 0 3
Langereis blood group 0 0 0 0 0 3 0 3
Left-right axis malformations 0 9 0 3 0 0 0 3
Leprosy, susceptibility to, 1 0 0 0 0 2 1 0 3
Long QT syndrome, drug-associated 0 0 0 2 1 0 0 3
Lung disease, non-specific 0 1 0 0 3 0 2 3
MAG-related disorder 0 3 0 3 1 0 0 3
MAK-related disorder 0 4 0 2 0 0 1 3
MAP3K8-related disorder 0 7 0 2 1 0 0 3
MAP4-related disorder 0 3 0 3 0 0 0 3
MCM3AP-related disorder 0 20 0 3 0 0 0 3
MCOLN1-related disorder 0 0 0 2 1 0 0 3
MCTP2-related disorder 0 18 0 3 0 0 0 3
MEI1-related disorder 0 3 0 3 0 0 0 3
MESP1-related disorder 0 17 0 3 0 0 0 3
MFSD8-related disorder 0 0 0 1 3 0 1 3
MGME1-related disorder 0 5 0 3 0 0 0 3
MICU1-related disorder 0 1 0 3 0 0 0 3
MIPEP-related disorder 0 7 0 3 0 0 0 3
MLYCD-related disorder 0 2 0 2 1 0 0 3
MMAB-related disorder 0 2 0 0 2 0 1 3
MMP2-related disorder 0 4 0 3 0 0 0 3
MMP21-related disorder 0 2 0 3 0 0 0 3
MN1 C-terminal truncation (MCTT) syndrome 0 0 0 2 0 0 3 3
MN1-related disorder 0 8 0 2 1 0 0 3
MNX1-related disorder 0 2 0 2 0 0 1 3
MOGS-related disorder 0 1 0 3 0 0 0 3
MORC2-related disorder 0 4 0 3 0 0 0 3
MRAS-related disorder 0 4 0 2 1 0 0 3
MTMR2-related disorder 0 1 0 3 0 0 0 3
MTRR-related disorder 0 4 0 1 2 0 0 3
MUSK-related disorder 0 6 0 2 1 0 1 3
MVK-related disorder 0 8 0 2 2 0 0 3
MYBPC3-related cardiomyopathies 0 1 0 3 0 0 0 3
MYO7B-related disorder 0 8 0 3 0 0 0 3
MYOF-related disorder 0 8 0 3 0 0 0 3
MYOM2-related disorder 0 7 0 3 0 0 0 3
MYORG-related disorder 0 11 0 3 0 0 0 3
Macrocephaly 0 1 0 2 0 0 1 3
Mandibuloacral dysplasia with type A lipodystrophy, atypical 0 1 0 1 0 0 3 3
Mendelian syndromes with cleft lip/palate 0 1 0 0 2 0 1 3
Mild intellectual disability 0 0 0 1 2 1 2 3
Monocarboxylate transporter 1 deficiency, autosomal dominant 0 1 0 2 0 0 1 3
Monogenic short stature 0 3 0 1 1 0 1 3
Moyamoya angiopathy with developmental delay 0 1 0 0 0 0 3 3
Multiple monogenic benign skin tumours 0 3 0 3 0 0 0 3
Myoclonic epilepsy, juvenile, susceptibility to, 1 0 0 0 0 3 0 0 3
NAA15-related disorder 0 13 0 3 0 0 0 3
NANS-related disorder 0 4 0 2 1 0 0 3
NAV2-related disorder 0 9 0 3 0 0 0 3
NDUFA11-related disorder 0 2 0 1 2 0 0 3
NDUFS1-related disorder 0 10 0 2 1 0 1 3
NDUFS8-related disorder 0 2 0 1 2 0 0 3
NFASC-related disorder 0 14 0 2 1 0 0 3
NFKB2-related disorder 0 5 0 3 0 0 0 3
NGLY1-related disorder 0 4 0 1 2 0 0 3
NIPAL4-related disorder 0 1 0 2 1 0 0 3
NKX2-1-Related Disorders 0 5 0 3 0 0 0 3
NLGN3-related disorder 0 4 0 2 2 0 0 3
NOG-related disorder 0 2 0 0 2 0 1 3
NONO-related disorder 0 1 0 3 0 0 0 3
NPR2-related disorder 0 1 0 3 0 0 0 3
NPRL3-related disorder 0 11 0 3 0 0 0 3
NR0B1-related disorder 0 1 0 3 0 0 0 3
NR0B2-related disorder 0 17 0 1 2 0 0 3
NR5A1-related disorder 0 4 0 2 1 0 0 3
NSMCE2-related disorder 0 2 0 3 0 0 0 3
NTRK3-related disorder 0 4 0 3 0 0 0 3
NUP62-related disorder 0 9 0 2 1 0 0 3
NYNRIN-related disorder 0 4 0 2 1 0 0 3
NYX-related disorder 0 7 0 2 1 0 1 3
Neural tube defects, folate-sensitive, susceptibility to 0 0 0 0 0 0 3 3
Non-Syndromic Hereditary Hearing Impairment 0 0 0 1 0 0 2 3
Non-syndromic oligodontia 0 1 0 0 0 0 3 3
Nongoitrous Euthyroid Hyperthyrotropinemia 0 1 0 2 0 0 1 3
ODAD2-related disorder 0 4 0 0 3 0 0 3
OPN1SW-related disorder 0 6 0 3 0 0 0 3
OSMR-related disorder 0 1 0 3 1 0 0 3
OXCT1-related disorder 0 2 0 2 1 0 0 3
Obesity, autosomal dominant 0 0 0 2 0 0 1 3
Obesity, severe, and type II diabetes 0 0 0 0 0 0 3 3
Olaparib response 0 0 0 0 0 3 0 3
PADI3-related disorder 0 0 0 3 0 0 1 3
PAK3-related disorder 0 1 0 3 1 0 0 3
PAX4-related disorder 0 11 0 2 1 0 0 3
PAX8-related disorder 0 1 0 3 0 0 0 3
PCARE-related disorder 0 16 0 2 3 0 0 3
PCGF2-related disorder 0 10 0 2 1 0 0 3
PCK1-related disorder 0 12 0 0 3 0 0 3
PDHA1-related disorder 0 2 0 2 1 0 0 3
PEX11B-related disorder 0 7 0 0 2 0 1 3
PGAM2-related disorder 0 4 0 1 2 0 0 3
PHGDH-related disorder 0 2 0 2 1 0 0 3
PHKA1-related disorder 0 2 0 1 2 0 0 3
PHYH-related disorder 0 9 0 2 2 0 1 3
PIGA-related disorder 0 7 0 2 1 0 0 3
PIGN-related disorder 0 7 0 2 0 0 1 3
PIGQ-related disorder 0 14 0 2 1 0 0 3
PIK3CD-related disorder 0 13 0 3 0 0 0 3
PIP5K1C-related disorder 0 2 0 3 0 0 0 3
PITX2-related disorder 0 0 0 2 1 0 0 3
PLAA-related disorder 0 5 0 2 1 0 0 3
PLD3-related disorder 0 1 0 3 0 0 0 3
PLEKHM2-related disorder 0 4 0 3 0 0 0 3
PLK4-related disorder 0 10 0 2 0 0 1 3
PNLIP-related disorder 0 2 0 1 2 0 0 3
PNPLA1-related disorder 0 5 0 2 2 0 0 3
POC1A-related disorder 0 2 0 2 1 0 0 3
POLE2-related disorder 0 8 0 1 2 0 0 3
POLR1A-related disorder 0 17 0 2 1 0 0 3
POLYCYSTIC KIDNEY DISEASE 3 WITH POLYCYSTIC LIVER DISEASE 0 1 0 2 0 0 1 3
POMGNT2-related disorder 0 6 0 1 2 0 0 3
PPP1CB-related disorder 0 11 0 2 0 0 1 3
PPP2R5C-related disorder 0 2 0 3 0 0 0 3
PPT1-related disorder 0 2 0 1 2 0 0 3
PREPL-related disorder 0 5 0 3 0 0 0 3
PRKG1-related disorder 0 11 0 2 1 0 0 3
PRUNE1-related disorder 0 7 0 3 0 0 0 3
PSEN1-related disorder 0 10 0 2 1 0 0 3
PTPN22-related disorder 0 3 0 2 2 0 0 3
PUM1-related disorder 0 6 0 3 0 0 0 3
PXDNL-related disorder 0 18 0 3 0 0 0 3
PYGL-related disorder 0 4 0 0 3 0 0 3
Pancreatitis, chronic, susceptibility to 0 0 1 0 0 0 2 3
Pituitary hormone deficiency 0 4 0 2 0 0 2 3
Poly (ADP-Ribose) polymerase inhibitor response 0 0 0 0 0 3 0 3
Predisposition to Wilms tumor 0 23 0 0 3 0 0 3
Premature ventricular contraction 0 3 0 2 2 0 0 3
Profound intellectual disability 0 1 0 1 0 0 2 3
Prostate cancer, somatic 0 0 0 0 0 0 3 3
Psoriasis 15, pustular, susceptibility to 0 1 0 3 0 0 2 3
QRSL1-related disorder 0 10 0 3 0 0 0 3
RAB11A-related disorder 0 0 0 3 0 0 0 3
RAD54L-related disorder 0 1 0 2 1 0 0 3
RAG1-related disorder 0 6 0 3 0 0 0 3
RASA2-related disorder 0 18 0 3 0 0 0 3
RASGRP1-related disorder 0 7 0 3 0 0 0 3
RASGRP2-related disorder 0 5 0 2 1 0 0 3
RBM20-related disorder 0 16 0 2 1 0 0 3
RBM8A-related disorder 0 0 0 3 0 1 2 3
REN-related disorder 0 7 0 2 1 0 0 3
RFX3-related disorder 0 4 0 2 1 0 0 3
RIT1-related disorder 0 11 0 2 1 0 0 3
RMND1-related disorder 0 5 0 2 2 0 0 3
RNASEH2A-related disorder 0 4 0 3 0 0 0 3
RNASET2-related disorder 0 4 0 3 0 0 0 3
RNF135-related disorder 0 1 0 2 1 0 0 3
RNF168-related disorder 0 9 0 3 0 0 0 3
ROGDI-related disorder 0 6 0 1 2 0 0 3
RORB-related disorder 0 4 0 3 0 0 0 3
RPGRIP1-related disorder 0 4 0 1 2 0 0 3
RPL35-related disorder 0 3 0 3 0 0 0 3
RPSA-related disorder 0 1 0 1 2 0 0 3
RRAS-related disorder 0 5 0 2 1 0 0 3
RRAS2-related disorder 0 2 0 1 0 0 2 3
RSPH4A-related disorder 0 2 0 1 2 0 0 3
RUNX1T1-related disorder 0 2 0 3 0 0 0 3
RUNX2-related disorder 0 8 0 2 0 0 1 3
Rare combined vascular malformation 0 0 0 3 0 0 0 3
S1PR2-related disorder 0 4 0 3 0 0 0 3
SALL2-related disorder 0 5 0 3 0 0 0 3
SAR1B-related disorder 0 2 0 3 0 0 0 3
SARS2-related disorder 0 5 0 3 1 0 0 3
SCO1-related disorder 0 3 0 2 1 0 0 3
SDHAF2-related disorder 0 6 0 2 1 0 0 3
SEC61A1-related disorder 0 3 0 2 1 0 0 3
SEPSECS-related disorder 0 2 0 2 1 0 0 3
SERPINA6-related disorder 0 1 0 0 1 0 2 3
SERPINB6-related disorder 0 3 0 1 2 0 0 3
SERPIND1-related disorder 0 3 0 3 1 0 0 3
SERPINH1-related disorder 0 5 0 2 2 0 0 3
SFTPB-related disorder 0 6 0 3 0 0 0 3
SH2B3-related disorder 0 7 0 2 2 0 0 3
SH3KBP1-related disorder 0 5 0 2 1 0 0 3
SHANK1-related disorder 0 7 0 3 0 0 0 3
SHANK2-related disorder 0 4 0 3 0 0 0 3
SHROOM3-related disorder 0 22 0 3 0 0 0 3
SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR 0 2 0 0 1 2 1 3
SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2 0 0 0 0 1 0 2 3
SLC18A3-related disorder 0 2 0 2 1 0 0 3
SLC1A3-related disorder 0 2 0 3 0 0 0 3
SLC25A46-related disorder 0 5 0 0 3 0 0 3
SLC26A2-related disorder 0 3 0 2 0 0 1 3
SLC26A5-related disorder 0 3 0 2 1 0 0 3
SLC27A4-related disorder 0 1 0 3 0 0 0 3
SLC2A2-related disorder 0 1 0 1 2 0 0 3
SLC34A2-related disorder 0 3 0 3 0 0 0 3
SLC35C1-related disorder 0 1 0 1 1 0 1 3
SLC52A3-related disorder 0 8 0 2 0 0 2 3
SLC5A2-related disorder 0 4 0 2 1 0 1 3
SLC5A7-related disorder 0 5 0 1 2 0 0 3
SLC6A20-related disorder 0 4 0 3 0 0 0 3
SLC6A3-related disorder 0 6 0 1 2 0 0 3
SLC7A14-related disorder 0 6 0 3 1 0 0 3
SLC9A3-related disorder 0 20 0 3 0 0 0 3
SLC9A6-related disorder 0 1 0 3 1 0 0 3
SLCO1B3-related disorder 0 9 0 2 1 0 0 3
SMO-related disorder 0 3 0 2 1 0 0 3
SNAP29-related disorder 0 2 0 1 2 0 0 3
SNX10-related disorder 0 3 0 3 0 0 0 3
SOX5-related disorder 0 2 0 3 0 0 0 3
SOX9-related disorder 0 6 0 2 1 0 0 3
SPART-related disorder 0 6 0 2 1 0 0 3
SPHEROCYTOSIS, TYPE 1, AUTOSOMAL RECESSIVE 0 0 0 1 2 0 1 3
SPRED1-related disorder 0 5 0 3 0 0 0 3
SRA1-related disorder 0 5 0 3 0 0 0 3
SRD5A2-related disorder 0 2 0 2 1 0 0 3
ST3GAL3-related disorder 0 2 0 0 3 0 0 3
STAT4-related disorder 0 8 0 2 2 0 0 3
STRA6-related disorder 0 6 0 0 3 0 0 3
SUCLG2-related disorder 0 2 0 2 1 0 0 3
SUCO-related disorder 0 8 0 2 1 0 0 3
SUGCT-related disorder 0 1 0 2 0 0 1 3
SUN1-related disorder 0 15 0 3 0 0 0 3
SYN1-related disorder 0 5 0 1 2 0 0 3
SYNJ1-related disorder 0 15 0 2 1 0 0 3
SYT1-related disorder 0 2 0 3 0 0 0 3
Severe intellectual deficiency 0 1 0 3 0 0 0 3
Smith-Magenis Syndrome-like 0 3 0 0 0 0 3 3
Spectraplakinopathy type I 0 1 0 0 3 0 0 3
Structural eye disease 0 0 0 3 0 0 0 3
TAB2-related disorder 0 6 0 3 0 0 0 3
TAF6-related disorder 0 5 0 2 1 0 0 3
TAFAZZIN-related disorder 0 3 0 2 1 0 0 3
TAOK2-related disorder 0 18 0 3 0 0 0 3
TBC1D1-related disorder 0 3 0 3 0 0 0 3
TBX19-related disorder 0 2 0 2 1 0 0 3
TBX4-related disorder 0 6 0 3 0 0 0 3
TBXA2R-related disorder 0 3 0 2 1 0 0 3
TCTN1-related disorder 0 3 0 1 2 0 0 3
TCTN3-related disorder 0 3 0 0 2 0 1 3
TECPR2-related disorder 0 10 0 2 2 0 0 3
TENM1-related disorder 0 9 0 3 0 0 0 3
TENT5A-related disorder 0 1 0 3 0 0 0 3
TERC-related disorder 0 1 0 2 0 0 1 3
TEX11-related disorder 0 1 0 3 0 0 0 3
TF-related disorder 0 7 0 3 0 0 0 3
TFG-related disorder 0 3 0 3 0 0 0 3
TGFBR3-related disorder 0 3 0 3 0 0 0 3
THOC2-related disorder 0 1 0 3 0 0 0 3
THOC6-related disorder 0 1 0 3 0 0 0 3
THPO-related disorder 0 5 0 2 2 0 0 3
TLR7-related disorder 0 0 0 3 0 0 0 3
TMEM126A-related disorder 0 2 0 3 1 0 0 3
TMEM132E-related disorder 0 12 0 3 0 0 0 3
TMEM240-related disorder 0 6 0 3 0 0 0 3
TMEM38B-related disorder 0 1 0 1 2 0 0 3
TMEM63A-related disorder 0 3 0 2 1 0 0 3
TMIE-related disorder 0 3 0 0 2 0 1 3
TMPRSS15-related disorder 0 10 0 2 1 0 0 3
TNFRSF9-related disorder 0 3 0 2 1 0 0 3
TNFSF11-related disorder 0 4 0 2 1 0 0 3
TNNC1-related disorder 0 4 0 2 1 0 0 3
TNNT3-related disorder 0 4 0 2 1 0 0 3
TNRC6B-related disorder 0 11 0 3 0 0 0 3
TRAF7-related disorder 0 9 0 3 0 0 0 3
TRIM63-related disorder 0 2 0 2 1 0 0 3
TRIP13-related disorder 0 16 0 1 2 0 0 3
TRIT1 Deficiency 0 1 0 1 0 0 2 3
TRNT1-related disorder 0 5 0 1 1 0 1 3
TRPA1-related disorder 0 1 0 3 0 0 0 3
TSHZ3-related disorder 0 5 0 3 0 0 0 3
TSR2-related disorder 0 1 0 2 1 0 0 3
TTC28-related disorder 0 4 0 3 0 0 0 3
TUBB4A-related disorder 0 7 0 3 0 0 0 3
TUBB4B-related disorder 0 11 0 3 0 0 0 3
TUBGCP4-related disorder 0 2 0 3 0 0 0 3
TUFM-related disorder 0 6 0 2 1 0 0 3
TUSC3-related disorder 0 0 0 2 1 0 0 3
TWNK-related disorder 0 22 0 1 2 0 0 3
TYROBP-related disorder 0 2 0 2 2 0 0 3
Tobacco addiction, susceptibility to; Classic dopamine transporter deficiency syndrome 0 3 0 1 2 0 0 3
Transient Neonatal Diabetes, Dominant/Recessive 0 0 0 2 2 0 0 3
Triple-Negative Breast Cancer Finding 0 2 0 1 2 0 0 3
UBQLN2-related disorder 0 3 0 1 2 0 0 3
UNC45B-related disorder 0 11 0 2 1 0 0 3
UROD-related disorder 0 4 0 3 0 0 0 3
USP7-related disorder 0 5 0 2 1 0 0 3
VAPB-related disorder 0 4 0 3 1 0 0 3
VAV1-related disorder 0 11 0 2 1 0 0 3
VPS33A-related disorder 0 4 0 3 0 0 0 3
VPS53-related disorder 0 8 0 3 0 0 0 3
VSX2-related disorder 0 2 0 3 0 0 0 3
VWA3B-related disorder 0 4 0 2 1 0 0 3
Variegate porphyria; Microvascular complications of diabetes, susceptibility to, 7; Alzheimer disease type 1; Hemochromatosis type 1; TRANSFERRIN SERUM LEVEL QUANTITATIVE TRAIT LOCUS 2; Familial porphyria cutanea tarda 0 3 0 1 1 1 0 3
WAC-related disorder 0 5 0 3 0 0 0 3
WASHC5-related disorder 0 9 0 3 0 0 0 3
WDPCP-related disorder 0 17 0 1 2 0 0 3
WDR4-related disorder 0 19 0 2 1 0 0 3
WNT7A-related disorder 0 4 0 3 2 0 0 3
WNT9B-related disorder 0 5 0 3 0 0 0 3
XPO5-related disorder 0 22 0 0 3 0 0 3
XPR1-related disorder 0 1 0 3 0 0 0 3
YARS1-related disorder 0 0 0 3 1 0 0 3
ZNF687-related disorder 0 4 0 2 1 0 0 3
acenocoumarol response - Dosage 0 0 0 0 0 3 0 3
bilateral breast cancer 0 4 0 0 3 0 0 3
developmental delay with seizures 0 0 0 1 0 0 2 3
intellectual deficiency 0 0 0 2 0 0 1 3
tegafur response - Toxicity 0 0 0 0 0 3 0 3
AAAS-related disorder 0 5 0 1 1 0 0 2
ABAT-related disorder 0 3 0 1 1 0 0 2
ABCD4-related disorder 0 3 0 0 2 0 0 2
ACTA1-related disorder 0 1 0 1 1 0 0 2
ACTA1-related myopathies 0 0 0 2 0 0 0 2
ADA2-related disorder 0 8 0 1 1 0 0 2
ADAM9-related disorder 0 8 0 2 0 0 0 2
ADAMTSL2-related disorder 0 3 0 1 2 0 0 2
ADAR-related disorder 0 11 0 1 1 0 0 2
ADSS1-related disorder 0 14 0 2 0 0 0 2
AFF3-related disorder 0 11 0 1 1 0 0 2
AFG2B-related disorder 0 0 0 2 0 0 0 2
AGO3-related disorder 0 3 0 2 0 0 0 2
AGPS-related disorder 0 5 0 0 2 0 0 2
AIMP1-related disorder 0 4 0 2 0 0 0 2
AK7-related disorder 0 7 0 2 1 0 0 2
ALDH1A2-related disorder 0 3 0 2 0 0 0 2
ALDH1A3-related disorder 0 2 0 2 0 0 0 2
ALG14-related disorder 0 2 0 1 1 0 0 2
ALG3-related disorder 0 0 0 1 1 0 0 2
ALPI-related disorder 0 3 0 2 0 0 0 2
ALX4-related disorder 0 4 0 2 0 0 0 2
AMBN-related disorder 0 3 0 2 0 0 0 2
AMELX-related disorder 0 2 0 2 0 0 0 2
AMHR2-related disorder 0 1 0 2 0 0 0 2
AMN-related disorder 0 0 0 2 0 0 0 2
ANKK1-related disorder 0 3 0 2 0 0 0 2
ANO10-related disorder 0 5 0 2 0 0 0 2
ANTXR1-related disorder 0 3 0 2 0 0 0 2
ANTXR2-related disorder 0 7 0 2 0 0 0 2
AP1S3-related disorder 0 2 0 2 0 0 0 2
AP4B1-related disorder 0 2 0 1 1 0 0 2
APC associated polyposis 0 1 0 1 1 0 0 2
APCDD1-related disorder 0 1 0 2 0 0 0 2
APOA1-related disorder 0 4 0 0 1 0 1 2
APOA2-related disorder 0 1 0 2 0 0 0 2
APOA4-related disorder 0 5 0 2 0 0 0 2
APOA5-related disorder 0 3 0 0 1 0 1 2
APOC2-related disorder 0 1 0 1 0 0 1 2
APOL1-associated kidney disease 0 0 0 0 1 0 1 2
AQP1-related disorder 0 2 0 2 0 0 0 2
AQP2-related nephrogenic diabetes insipidus 0 0 0 2 0 0 0 2
ARCN1-related disorder 0 6 0 2 0 0 0 2
ARHGAP29-related disorder 0 5 0 2 0 0 0 2
ARHGAP32-related disorder 0 13 0 2 0 0 0 2
ARHGDIA-related disorder 0 1 0 1 2 0 0 2
ARHGEF15-related disorder 0 5 0 2 0 0 0 2
ARHGEF6-related disorder 0 6 0 2 0 0 0 2
ARL6-related disorder 0 6 0 1 1 0 0 2
ARMC2-related disorder 0 0 0 1 1 0 0 2
ARMC9-related Joubert syndrome 0 3 0 2 0 0 1 2
ARMS2-related disorder 0 0 0 1 1 0 0 2
ARNT2-related disorder 0 4 0 1 1 0 0 2
ARSB-related disorder 0 6 0 2 0 0 0 2
ARYLSULFATASE A PSEUDODEFICIENCY 0 0 0 0 0 1 2 2
ASCL1-related disorder 0 1 0 1 1 0 0 2
ASL-related disorder 0 2 0 2 0 0 0 2
ASPH-related disorder 0 6 0 1 1 0 0 2
ASRGL1-related disorder 0 5 0 2 0 0 0 2
ATAXIA, FRIEDREICH-LIKE, WITH ISOLATED VITAMIN E DEFICIENCY 0 4 0 1 0 0 1 2
ATF6-related disorder 0 2 0 2 0 0 0 2
ATIC-related disorder 0 5 0 2 0 0 0 2
ATL1-related disorder 0 3 0 1 1 0 0 2
ATL3-related disorder 0 0 0 1 1 0 0 2
ATN1-related disorder 0 9 0 2 0 0 0 2
ATP13A4-related disorder 0 7 0 2 0 0 0 2
ATP1A2-related disorder 0 18 0 1 1 0 0 2
ATP2C2-related disorder 0 13 0 2 0 0 0 2
ATPAF2-related disorder 0 2 0 2 1 0 0 2
ATXN2-related disorder 0 2 0 1 1 0 0 2
ATXN3-related disorder 0 4 0 1 1 0 0 2
ATXN7-related disorder 0 0 0 2 1 0 0 2
AURKC-related disorder 0 0 0 1 1 0 0 2
AXIN1-related disorder 0 3 0 2 0 0 0 2
Abnormal facial shape 0 0 0 2 0 0 0 2
Abnormality of prenatal development or birth 0 2 0 2 0 0 0 2
Abortive cerebellar ataxia; Glaucoma, normal tension, susceptibility to; Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy; Autosomal dominant optic atrophy classic form; Mitochondrial DNA depletion syndrome 14B (cardioencephalomyopathic type) 0 3 0 0 2 0 0 2
Accelerated tumor formation, susceptibility to 0 5 0 1 0 0 1 2
Adult onset neurodegenerative disorder 0 6 0 2 0 0 1 2
Albright hereditary osteodystrophy, pseudohypoparathyroidism, pseudopseudohypoparathyroidism, acrodysostosis and osteoma cutis 0 3 0 1 0 0 1 2
Alpha-thalassemia, Dutch type 0 2 0 2 0 0 0 2
Alpha-thalassemia/intellectual disability syndrome 0 0 0 2 0 0 0 2
Alzheimer disease; Variegate porphyria; Microvascular complications of diabetes, susceptibility to, 7; Hemochromatosis type 1; TRANSFERRIN SERUM LEVEL QUANTITATIVE TRAIT LOCUS 2; Familial porphyria cutanea tarda 0 0 0 0 1 1 0 2
Amyotrophic lateral sclerosis 1, autosomal recessive 0 0 0 1 0 0 2 2
Aspergillosis, susceptibility to 0 0 0 0 0 0 2 2
Asymmetric septal hypertrophy 0 1 0 2 0 0 0 2
Ataxia 0 0 0 2 0 0 0 2
Atrioventricular septal defect and common atrioventricular junction 0 0 0 0 0 0 2 2
Autistic behavior 0 4 0 1 0 0 1 2
Autosomal dominant COL4A1-related disorders 0 1 0 1 0 0 1 2
Autosomal dominant CREBBP-related disorders 0 0 0 2 0 0 0 2
Autosomal dominant DNMT3A-related disorders 0 0 0 2 0 0 0 2
Autosomal dominant PTEN-related disorders 0 2 0 1 0 0 1 2
Autosomal dominant TRIO-related disorders 0 0 0 2 0 0 0 2
Autosomal dominant and autosomal recessive FLG-related disorders 0 1 0 2 0 0 0 2
Autosomal dominant and autosomal recessive MFN2-related disorders 0 0 0 1 0 0 2 2
Autosomal dominant and autosomal recessive WFS1-related disorders 0 0 0 2 0 0 0 2
Autosomal recessive ABCC6-related disorders 0 2 0 2 0 0 0 2
Autosomal recessive CUBN-related disorders 0 0 0 2 0 0 0 2
Autosomal recessive DYSF-related disorders 0 2 0 2 0 0 0 2
Autosomal recessive ERCC2-related disorders 0 0 0 1 0 0 1 2
Autosomal recessive KIAA0753-related disorders 0 0 0 2 0 0 0 2
Autosomal recessive PDZD7-related disorders 0 0 0 2 0 0 0 2
Autosomal recessive PHGDH-related disorders 0 0 0 2 0 0 0 2
Autosomal recessive POLR3A-related disorders 0 3 0 1 0 0 1 2
Autosomal recessive TYR-related disorders 0 1 0 2 0 0 0 2
B3GALT6-related disorder 0 7 0 0 2 0 0 2
B4GALT7-related disorder 0 4 0 1 1 0 0 2
BAZ2B-related disorder 0 6 0 2 0 0 0 2
BCAM-related disorder 0 1 0 2 0 0 0 2
BCHE-related disorder 0 2 0 1 1 0 0 2
BCKDK-related disorder 0 0 0 0 2 0 0 2
BCL11A-related disorder 0 4 0 2 0 0 0 2
BCORL1-related disorder 0 12 0 1 1 0 0 2
BILIRUBIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1 0 0 0 0 0 2 0 2
BMP15-related disorder 0 0 0 1 1 0 0 2
BMP2-related disorder 0 4 0 0 2 0 0 2
BOLA3-related disorder 0 2 0 1 1 0 0 2
BRIP1-associated familial cancer predisposition 0 2 0 1 0 0 1 2
BUB1B-related disorder 0 2 0 0 2 0 0 2
Beta zero thalassemia 0 42 0 2 0 0 0 2
Bilateral tonic-clonic seizure 0 0 0 0 2 0 0 2
Bone marrow hypocellularity 0 1 0 1 0 0 1 2
Bone mineral density quantitative trait locus 1 0 1 0 1 0 1 0 2
Brachydactyly, type B1Robinow syndrome, autosomal recessive 0 0 0 0 1 0 1 2
Breast cancer, susceptibility to; Prostate cancer susceptibility 0 0 0 2 0 0 0 2
Brugada syndrome, lidocaine-induced 0 0 0 1 1 0 0 2
C12orf57-related disorder 0 5 0 0 2 0 0 2
CA5A-related disorder 0 4 0 0 2 0 0 2
CABP4-related disorder 0 6 0 1 1 0 0 2
CAMSAP1-related neuronal migration disorder 0 2 0 1 0 0 1 2
CAPN10-related disorder 0 4 0 2 0 0 0 2
CARD9-related disorder 0 2 0 1 1 0 0 2
CAST-related disorder 0 10 0 1 1 0 0 2
CAT-related disorder 0 3 0 2 0 0 0 2
CATARACTS, SPASTIC PARAPLEGIA, AND SPEECH DELAY 0 1 0 2 0 0 0 2
CBX2-related disorder 0 5 0 2 0 0 0 2
CCDC115-related disorder 0 2 0 2 0 0 0 2
CCDC39-related disorder 0 4 0 0 2 0 0 2
CCM2-related disorder 0 5 0 2 0 0 0 2
CD2AP-related disorder 0 9 0 2 0 0 0 2
CD33-related disorder 0 1 0 2 0 0 0 2
CD3G-related disorder 0 0 0 0 2 0 0 2
CD8A-related disorder 0 0 0 2 0 0 0 2
CD96-related disorder 0 1 0 1 1 0 0 2
CDC42-related disorder 0 1 0 2 0 0 1 2
CDC42BPB-related neurodevelopmental syndrome 0 1 0 1 0 0 1 2
CDC73-related disorder 0 3 0 1 1 0 0 2
CDCA7-related disorder 0 5 0 2 0 0 0 2
CDH13-related disorder 0 3 0 2 0 0 0 2
CDK8-related disorder 0 1 0 1 0 0 1 2
CELF4-related disorder 0 0 0 2 0 0 0 2
CFAP298-related disorder 0 3 0 1 1 0 0 2
CFAP69-related disorder 0 7 0 2 0 0 0 2
CHAMP1-related syndrome 0 7 0 2 0 0 0 2
CHCHD2-related disorder 0 1 0 2 0 0 0 2
CHD1-related disorder 0 8 0 2 0 0 0 2
CIITA-related disorder 0 5 0 2 0 0 0 2
CIZ1-related disorder 0 4 0 2 0 0 0 2
CLASP2-related disorder 0 2 0 2 0 0 0 2
CLCN5-related disorder 0 9 0 2 0 0 0 2
CLDN1-related disorder 0 3 0 1 2 0 0 2
CLDN16-related disorder 0 0 0 0 2 0 0 2
CLN5-related disorder 0 3 0 2 0 0 0 2
CLPP-related disorder 0 6 0 2 0 0 0 2
CLPX-related disorder 0 3 0 2 0 0 0 2
CLRN1-related disorder 0 6 0 1 1 0 1 2
CMIP-related disorder 0 7 0 2 0 0 0 2
CNKSR2-related disorder 0 2 0 1 1 0 0 2
CNTN3-related disorder 0 3 0 2 0 0 0 2
CNTN6-related disorder 0 8 0 2 0 0 0 2
CNTNAP5-related disorder 0 11 0 2 0 0 0 2
COG1-related disorder 0 3 0 2 0 0 0 2
COG2-related disorder 0 2 0 2 0 0 0 2
COG6-related disorder 0 2 0 1 1 0 0 2
COG7-related disorder 0 5 0 1 1 0 0 2
COL4A1 or COL4A2-related cerebral small vessel disease 0 4 0 1 0 0 1 2
COL6A5-related disorder 0 1 0 2 0 0 0 2
COL8A2-related disorder 0 4 0 2 0 0 0 2
CORO1A-related disorder 0 2 0 1 1 0 0 2
COX10-related disorder 0 0 0 1 1 0 0 2
CPT1C-related disorder 0 1 0 2 0 0 0 2
CRADD-related disorder 0 3 0 2 0 0 0 2
CRAT-related disorder 0 4 0 2 0 0 0 2
CRB1-related maculopathy 0 0 0 2 0 0 1 2
CRIM1-related disorder 0 12 0 2 0 0 0 2
CRX-related disorder 0 1 0 1 1 0 0 2
CRYAB-related disorder 0 1 0 0 2 0 0 2
CRYBA1-related disorder 0 0 0 2 0 0 0 2
CRYBA4-related disorder 0 2 0 2 0 0 0 2
CSF2RA-related disorder 0 5 0 1 1 0 0 2
CSNK2A1-related disorder 0 4 0 1 0 0 1 2
CUL4B-related disorder 0 12 0 1 0 0 1 2
CUX1-related disorder 0 10 0 2 0 0 0 2
CXCR2-related disorder 0 4 0 1 1 0 0 2
CYBA-related disorder 0 3 0 0 2 0 0 2
CYLD-related disorder 0 1 0 2 0 0 0 2
CYP2C19: normal function 0 0 0 0 0 2 0 2
CYP4V2-related disorder 0 3 0 2 1 0 0 2
Celiac disease, susceptibility to, 3; Type 1 diabetes mellitus 12; Hashimoto thyroiditis; Systemic lupus erythematosus; Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency 0 2 0 0 0 0 2 2
Central core disease, autosomal recessive 0 0 0 2 0 0 0 2
Central core myopathy; Malignant hyperthermia, susceptibility to, 1 0 2 0 2 0 0 1 2
Cerebral visual impairment and intellectual disability 0 0 0 2 0 0 0 2
Coffin Siris/Intellectual Disability 0 1 0 0 2 0 0 2
Colorectal / endometrial cancer 0 0 0 1 1 0 0 2
Congenital central hypoventilation; Hirschsprung disease, susceptibility to, 1; Multiple endocrine neoplasia type 2B; Pheochromocytoma; Familial medullary thyroid carcinoma; Multiple endocrine neoplasia type 2A 0 7 0 1 0 0 1 2
Congenital disorders of glycosylation type II 0 2 0 1 0 0 1 2
Craniosynostosis, nonspecific 0 1 0 0 1 0 1 2
DBT-related disorder 0 2 0 1 1 0 0 2
DCHS2-related disorder 0 8 0 2 0 0 0 2
DDB2-related disorder 0 0 0 1 1 0 0 2
DDOST-related disorder 0 3 0 1 1 0 0 2
DDX53-related disorder 0 5 0 2 0 0 0 2
DEGS1-related disorder 0 4 0 2 0 0 0 2
DGKE-related disorder 0 1 0 1 1 0 0 2
DHODH-related disorder 0 5 0 2 1 0 0 2
DHX34-related disorder 0 14 0 2 0 0 0 2
DLG3-related disorder 0 4 0 2 0 0 0 2
DLX3-related disorder 0 3 0 1 1 0 0 2
DMP1-related disorder 0 4 0 2 1 0 0 2
DNAAF3-related disorder 0 6 0 1 1 0 0 2
DNAAF6-related disorder 0 1 0 2 0 0 0 2
DNAH14-related disorder 0 6 0 1 1 0 0 2
DNAI2-related disorder 0 2 0 1 1 0 0 2
DNMT3B-related disorder 0 6 0 2 0 0 0 2
DOCK3-related disorder 0 12 0 2 0 0 0 2
DONSON-related Meier-Gorlin syndrome 0 0 0 0 0 0 2 2
DPAGT1-related disorder 0 3 0 1 1 0 0 2
DPP6-related disorder 0 7 0 2 1 0 0 2
DPYSL5-related disorder 0 0 0 0 1 0 1 2
DRD3-related disorder 0 1 0 1 1 0 0 2
DTHD1-related disorder 0 6 0 2 0 0 0 2
DUSP6-related disorder 0 0 0 2 0 0 0 2
DYNC2I1-related disorder 0 6 0 1 1 0 0 2
DYNC2LI1-related disorder 0 6 0 2 0 0 0 2
Death in early adulthood 0 1 0 0 0 0 2 2
Dementia, Lewy body, susceptibility to 0 0 2 1 0 0 0 2
Developmental and epileptic encephalopathy, 34; Epilepsy, idiopathic generalized, susceptibility to, 14 0 5 0 0 2 0 0 2
Developmental delay 0 5 0 0 1 0 1 2
Disproportionate tall stature 0 1 0 1 1 0 0 2
Dominant hypophosphatemia with nephrolithiasis or osteoporosis 0 1 0 1 1 0 0 2
EBF3-related disorder 0 2 0 2 0 0 0 2
ECM1-related disorder 0 5 0 2 0 0 0 2
EDNRB-related disorder 0 4 0 1 1 0 0 2
EEF1A2-related developmental and degenerative epileptic-dyskinetic encephalopathy 0 3 0 2 0 0 0 2
EFEMP2-related disorder 0 12 0 2 0 0 0 2
EIF2B2-related disorder 0 2 0 1 1 0 0 2
EIF2B4-related disorder 0 4 0 2 0 0 0 2
EIF2B5-related disorder 0 8 0 1 1 0 0 2
ELMOD3-related disorder 0 9 0 2 0 0 0 2
EMC1-related disorder 0 13 0 2 0 0 0 2
EPB41L1-related disorder 0 2 0 2 0 0 0 2
EPHA4-related disorder 0 0 0 1 1 0 0 2
EPHB2-related disorder 0 5 0 2 0 0 0 2
EPO-related disorder 0 4 0 1 1 0 0 2
ER BLOOD GROUP SYSTEM, ER(a-b-) 0 0 0 1 0 0 1 2
ESR2-related disorder 0 14 0 2 0 0 0 2
ETHE1-related disorder 0 1 0 0 2 0 0 2
EXTL3-related disorder 0 7 0 2 0 0 0 2
Early-onset coronary artery disease 0 3 0 2 0 0 0 2
Early-onset dementia of unclear type 0 0 0 0 2 0 0 2
Ectodermal dysplasia 10a, hypohidrotic/hair/tooth type, autosomal dominant 0 1 0 2 0 0 0 2
Eculizumab, poor response to 0 0 0 0 0 2 0 2
Eczematoid dermatitis 0 0 0 2 0 0 0 2
Encephalomyopathy with respiratory failure and lactic acidosis 0 0 0 0 2 0 0 2
Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7 0 0 0 1 1 0 1 2
Epidermolysis bullosa, pretibial, autosomal recessive 0 0 0 1 0 0 2 2
Epilepsy, idiopathic generalized, susceptibility to, 9; Episodic ataxia type 5 0 1 0 0 2 0 0 2
Epileptic spasm 0 0 0 2 0 0 0 2
F10-related disorder 0 2 0 1 1 0 1 2
F13B-related disorder 0 1 0 0 2 0 0 2
F9-related disorder 0 10 0 1 0 0 1 2
FAS-related disorder 0 3 0 1 1 0 0 2
FBXW4-related disorder 0 2 0 0 2 0 0 2
FEZF1-related disorder 0 7 0 2 0 0 0 2
FGF12-related disorder 0 3 0 2 0 0 0 2
FHL1-related disorder 0 8 0 1 1 0 0 2
FKBP14-related disorder 0 2 0 1 1 0 0 2
FLVCR2-related disorder 0 8 0 2 0 0 0 2
FMO3-related disorder 0 3 0 2 0 0 0 2
FOXC2-related disorder 0 2 0 2 0 0 0 2
FOXE3-related disorder 0 3 0 1 1 0 0 2
FPGT-TNNI3K-related disorder 0 0 0 2 0 0 0 2
FTCD-related disorder 0 6 0 2 0 0 1 2
FUT8-related disorder 0 6 0 2 0 0 0 2
Fabry disease, cardiac variant 0 3 0 1 0 0 1 2
Familial chronic mucocutaneous candidiasis; Aspergillosis, susceptibility to 0 0 0 2 0 0 0 2
Familial dilated cardiomyopathy and peripheral neuropathy 0 0 0 2 0 0 0 2
Familial intrahepatic cholestasis type 2 0 0 0 2 0 0 0 2
Febrile seizure (within the age range of 3 months to 6 years) 0 1 0 0 1 0 1 2
Flexion contracture 0 6 0 1 1 0 0 2
Fluorouracil response 0 0 0 0 0 1 1 2
GABRA3-related disorder 0 2 0 2 0 0 0 2
GABRB1-related disorder 0 9 0 1 1 0 0 2
GABRB2-related disorder 0 3 0 2 0 0 0 2
GABRB3-related disorder 0 7 0 2 0 0 0 2
GAMT-related disorder 0 9 0 2 1 0 0 2
GAS8-related disorder 0 3 0 1 1 0 0 2
GATAD1-related disorder 0 2 0 1 1 0 0 2
GBA2-related disorder 0 4 0 1 1 0 0 2
GCKR-related disorder 0 1 0 1 1 0 0 2
GCNT2-related disorder 0 0 0 2 0 0 0 2
GDF2-related disorder 0 3 0 1 1 0 0 2
GDNF-related disorder 0 2 0 1 1 0 0 2
GFER-related disorder 0 3 0 1 2 0 0 2
GFRA1-related disorder 0 2 0 2 0 0 0 2
GHSR-related disorder 0 0 0 2 1 0 0 2
GIGYF2-related disorder 0 7 0 1 1 0 0 2
GJB4-related disorder 0 5 0 2 0 0 0 2
GLDN-related disorder 0 4 0 1 1 0 0 2
GLRA1-related disorder 0 3 0 1 1 0 0 2
GLS-related disorder 0 4 0 2 0 0 0 2
GMPPA-related disorder 0 3 0 1 1 0 0 2
GNAI3-related disorder 0 2 0 2 0 0 0 2
GNRHR-related disorder 0 2 0 1 1 0 0 2
GNS-related disorder 0 2 0 1 1 0 0 2
GOSR2-related disorder 0 2 0 2 0 0 1 2
GOT2-related disorder 0 3 0 0 2 0 0 2
GP1BA-related disorder 0 13 0 0 1 0 1 2
GP1BB-related disorder 0 3 0 2 0 0 0 2
GPC6-related disorder 0 1 0 2 0 0 0 2
GPD1L-related disorder 0 3 0 1 1 0 0 2
GPHN-related disorder 0 1 0 2 0 0 0 2
GPI-related disorder 0 6 0 1 1 0 0 2
GPR101-related disorder 0 2 0 2 0 0 0 2
GPR143-related disorder 0 6 0 1 1 0 0 2
GPR45-related condition 0 0 0 2 0 0 0 2
GRIA3-related disorder 0 5 0 1 1 0 0 2
GRM7-related disorder 0 3 0 2 0 0 0 2
GRXCR2-related disorder 0 4 0 1 1 0 0 2
GSS-related disorder 0 1 0 0 2 0 0 2
GTF2E2-related disorder 0 3 0 2 1 0 0 2
GUCA1A-related disorder 0 1 0 2 0 0 0 2
GYS2-related disorder 0 1 0 1 1 0 0 2
Gait disturbance; Spastic paraparesis; Difficulty walking; Generalized hyperreflexia 0 0 0 1 0 0 1 2
Gastrointestinal polyposis 0 0 0 2 2 0 0 2
Global developmental delay; Cerebellar atrophy 0 0 0 2 0 0 1 2
Glutaric acidaemia I newborn screening follow up 0 0 0 2 0 0 0 2
Glycogen storage disease IIIb 0 3 0 2 0 0 0 2
Growth failure in early childhood 0 5 0 0 1 0 1 2
HACE1-related disorder 0 5 0 0 2 0 0 2
HARS2-related disorder 0 5 0 2 0 0 0 2
HAVCR2-related disorder 0 3 0 2 1 0 0 2
HBA2-related disorder 0 5 0 0 2 0 0 2
HBD-related disorder 0 1 0 1 1 0 0 2
HEMOGLOBIN I 0 0 0 0 0 2 0 2
HEMOGLOBIN I (BURLINGTON) 0 0 0 0 0 2 0 2
HEMOGLOBIN I (PHILADELPHIA) 0 0 0 0 0 2 0 2
HEMOGLOBIN I (SKAMANIA) 0 0 0 0 0 2 0 2
HEMOGLOBIN I (TEXAS) 0 0 0 0 0 2 0 2
HES7-related disorder 0 2 0 2 2 0 0 2
HESX1-related disorder 0 1 0 0 1 0 1 2
HEXB-related disorder 0 3 0 2 0 0 0 2
HGF-related disorder 0 2 0 1 2 0 0 2
HIRA-related disorder 0 12 0 2 0 0 0 2
HPSE2-related disorder 0 3 0 2 0 0 0 2
HR-related disorder 0 12 0 2 0 0 0 2
HRG-related disorder 0 4 0 1 2 0 0 2
HSD17B3-related disorder 0 5 0 1 1 0 1 2
HSPA9-related disorder 0 3 0 2 0 0 1 2
HTRA2-related disorder 0 4 0 2 0 0 0 2
HYAL1-related disorder 0 2 0 1 1 0 0 2
HYDIN-related disorder 0 0 0 1 2 0 0 2
HYPOGONADOTROPIC HYPOGONADISM 3 WITHOUT ANOSMIA 0 0 0 0 0 0 2 2
Hemoglobin H disease, nondeletional 0 8 0 2 0 0 0 2
Hepatic veno-occlusive disease-immunodeficiency syndrome; Mycobacterium tuberculosis, susceptibility to 0 0 0 1 1 0 0 2
Hereditary nonpolyposis colorectal carcinoma 0 2 0 2 0 0 0 2
Hypertension, essential, susceptibility to 0 2 0 0 0 0 2 2
Hypoaldosteronism, congenital 0 0 0 0 2 0 0 2
Hypocholesterolemia 0 0 0 0 0 0 2 2
Hypogonadotropic hypogonadism 15 with anosmia 0 0 0 0 0 0 2 2
Hypoinsulinemia 0 0 0 0 1 1 0 2
ICAM1-related disorder 0 2 0 2 0 0 0 2
ICOS-related disorder 0 2 0 0 2 0 0 2
IFIH1-related immunodeficiency 0 0 0 0 2 0 0 2
IFNAR1-related disorder 0 1 0 0 2 0 0 2
IFT57-related disorder 0 4 0 2 0 0 0 2
IFT80-related disorder 0 1 0 1 0 0 1 2
IFT88-related disorder 0 15 0 2 0 0 0 2
IGBP1-related disorder 0 0 0 1 1 0 0 2
IGSF1-related disorder 0 3 0 2 0 0 0 2
IKZF1-related disorder 0 14 0 0 2 0 0 2
IL10RB-related disorder 0 1 0 1 1 0 0 2
INPP5K-related disorder 0 6 0 2 0 0 0 2
INTS8-related disorder 0 5 0 2 0 0 0 2
IRAK1-related disorder 0 3 0 2 0 0 0 2
IRF4-related disorder 0 5 0 1 1 0 0 2
IRF7-related disorder 0 2 0 0 2 0 0 2
IRF8-related disorder 0 5 0 1 1 0 0 2
IRF9-related disorder 0 1 0 2 0 0 0 2
IRS1-related disorder 0 2 0 1 1 0 0 2
ITGA6-related disorder 0 10 0 1 1 0 0 2
ITGB6-related disorder 0 5 0 2 0 0 0 2
ITK-related disorder 0 2 0 2 2 0 0 2
ITPA-related disorder 0 1 0 2 0 0 0 2
ITPR2-related disorder 0 2 0 1 1 0 0 2
ITSN1-related disorder 0 8 0 2 0 0 0 2
Immunodeficiency 104; Hepatitis C virus, susceptibility to 0 2 0 1 0 0 1 2
Increased analgesia from kappa-opioid receptor agonist, female-specific 0 0 0 0 0 2 0 2
Increased left ventricular wall thickness 0 1 0 1 2 0 0 2
Inflammatory bowel disease 17; Psoriasis 7, susceptibility to 0 0 0 2 0 0 0 2
Inherited renal cancer 0 1 0 1 0 0 1 2
Insulin resistance 0 0 0 1 0 0 1 2
Insulin resistance, susceptibility to 0 1 0 0 0 0 2 2
Ischemic stroke; Thrombophilia due to activated protein C resistance; Budd-Chiari syndrome; Pregnancy loss, recurrent, susceptibility to, 1; Congenital factor V deficiency 0 5 0 0 1 0 1 2
JAM3-related disorder 0 6 0 2 0 0 0 2
JUP-related disorder 0 17 0 1 2 0 0 2
Jaundice; Erythema 0 0 0 1 0 0 1 2
Joubert syndrome 9/15, digenic 0 1 0 1 0 0 2 2
KCNA1-related disorder 0 5 0 2 0 0 0 2
KCNE5-related disorder 0 1 0 1 1 0 0 2
KCNH5-related disorder 0 2 0 2 0 0 0 2
KCNJ1-related disorder 0 6 0 2 0 0 0 2
KCNK18-related disorder 0 4 0 2 0 0 0 2
KCNK9-related disorder 0 1 0 2 0 0 0 2
KCNT2-related disorder 0 4 0 2 0 0 0 2
KCTD7-related disorder 0 0 0 1 1 0 0 2
KDM5B-related disorder 0 11 0 1 1 0 0 2
KIF2A-related disorder 0 9 0 2 0 0 0 2
KIF4B-related disorder 0 3 0 2 0 0 0 2
KIF5C-related disorder 0 8 0 2 0 0 0 2
KLF10-related disorder 0 2 0 1 1 0 0 2
KLF11-related disorder 0 12 0 2 0 0 0 2
KLHL3-related disorder 0 2 0 2 0 0 0 2
KLHL40-related disorder 0 2 0 2 0 0 0 2
KPNA7-related disorder 0 14 0 1 1 0 0 2
KRT25-related disorder 0 2 0 2 0 0 0 2
KRT3-related disorder 0 4 0 2 0 0 0 2
KRT9-related disorder 0 5 0 2 0 0 0 2
KY-related disorder 0 6 0 1 2 0 0 2
LCA5-related disorder 0 5 0 0 2 0 0 2
LCAT-related disorder 0 5 0 2 0 0 0 2
LDHA-related disorder 0 0 0 1 1 0 0 2
LDLRAP1-related disorder 0 1 0 1 1 0 0 2
LEMD2-related disorder 0 4 0 2 1 0 0 2
LETM1-associated clinical spectrum with predominant nervous system involvement 0 0 0 1 0 0 1 2
LFNG-related disorder 0 2 0 1 1 0 0 2
LHB-related disorder 0 1 0 2 0 0 0 2
LHX3-related disorder 0 4 0 2 0 0 0 2
LHX8-related disorder 0 3 0 1 1 0 0 2
LIAS-related disorder 0 3 0 1 1 0 0 2
LIPH-related disorder 0 3 0 1 1 0 0 2
LIPT1-related disorder 0 4 0 1 1 0 0 2
LPP-related disorder 0 3 0 2 0 0 0 2
LRRC8A-related disorder 0 20 0 2 0 0 0 2
LRSAM1-related disorder 0 5 0 0 1 0 1 2
Leprosy, susceptibility to, 3; Mycobacterium tuberculosis, susceptibility to; Colorectal cancer 0 0 0 1 1 0 0 2
Leukodystrophy, Adult-Onset 0 1 0 2 0 0 0 2
Likely inborn error of metabolism 0 6 0 1 0 0 1 2
Long QT syndrome 3, acquired, susceptibility to 0 0 0 0 0 0 2 2
MACULAR DEGENERATION, AGE-RELATED, 9, SUSCEPTIBILITY TO 0 0 0 0 0 0 2 2
MAD2L2-related disorder 0 9 0 2 0 0 0 2
MAF-related disorder 0 4 0 1 1 0 0 2
MAGED2-related disorder 0 3 0 1 0 0 1 2
MAP3K20-related disorder 0 4 0 2 1 0 0 2
MASP2-related disorder 0 4 0 1 0 0 1 2
MATN4-related disorder 0 1 0 2 0 0 0 2
MAX-related disorder 0 4 0 0 1 0 1 2
MCM5-related disorder 0 9 0 2 0 0 0 2
MCM9-related disorder 0 3 0 2 0 0 0 2
MDH2-related disorder 0 7 0 2 0 0 0 2
MED25-related disorder 0 3 0 1 2 0 0 2
MEIS2-related disorder 0 2 0 2 0 0 0 2
MFAP5-related disorder 0 10 0 1 1 0 0 2
MGLL-related disorder 0 1 0 2 0 0 0 2
MGP-related disorder 0 5 0 2 0 0 0 2
MID2-related disorder 0 1 0 1 1 0 0 2
MMP20-related disorder 0 1 0 1 0 0 1 2
MOCS2-related disorder 0 2 0 2 0 0 1 2
MPIG6B-related disorder 0 2 0 2 0 0 0 2
MRAP2-related disorder 0 13 0 1 1 0 0 2
MRPS7-related disorder 0 3 0 2 0 0 0 2
MSN-related disorder 0 3 0 2 0 0 0 2
MSX1-related disorder 0 0 0 2 0 0 0 2
MT-ATP6-related disorder 0 0 0 1 0 0 1 2
MTHFD1-related disorder 0 13 0 1 0 0 1 2
MTHFS-related disorder 0 3 0 2 0 0 0 2
MTMR14-related disorder 0 4 0 1 1 0 0 2
MVD-related disorder 0 1 0 1 0 0 1 2
MYOD1-related disorder 0 3 0 2 0 0 0 2
MYOPATHY, CENTRONUCLEAR, AUTOSOMAL DOMINANT, MODIFIER OF 0 0 0 0 0 0 2 2
Mild to moderate NDD 0 0 0 0 0 0 2 2
Mitochondrial DNA maintenance disorder 0 3 0 2 0 0 1 2
Monochromacy 0 0 0 2 0 0 0 2
Mortality risk in patients with severe coronavirus disease (COVID-19) 0 0 0 0 1 1 0 2
Moyamoya angiopathy 0 0 0 1 0 0 1 2
Multiple myeloma, resistance to 0 0 0 0 0 2 0 2
Muscular dystrophy-dystroglycanopathy (congenital without impaired intellectual development), type B, 5 0 2 0 1 0 0 1 2
NAF1-related disorder 0 9 0 1 1 0 0 2
NAGA-related disorder 0 1 0 1 1 0 0 2
NAXE-related disorder 0 1 0 1 1 0 0 2
NCF4-related disorder 0 3 0 1 1 0 0 2
NDUFA10-related disorder 0 6 0 1 1 0 0 2
NDUFA2-related disorder 0 3 0 2 0 0 0 2
NDUFA6-related disorder 0 4 0 2 0 0 0 2
NDUFAF1-related disorder 0 1 0 1 1 0 0 2
NDUFAF6-related disorder 0 3 0 1 1 0 0 2
NDUFS4-related disorder 0 0 0 0 2 0 0 2
NDUFV2-related disorder 0 1 0 1 1 0 0 2
NECAP1-related disorder 0 0 0 2 0 0 0 2
NECTIN1-related disorder 0 7 0 2 0 0 0 2
NECTIN4-related disorder 0 1 0 1 1 0 0 2
NEFL-related disorder 0 4 0 1 1 0 0 2
NEK2-related disorder 0 2 0 1 1 0 0 2
NEMF-related disorder 0 7 0 2 0 0 0 2
NEPRO-related disorder 0 2 0 2 0 0 0 2
NEU1-related disorder 0 8 0 2 0 0 0 2
NFS1-related disorder 0 1 0 1 1 0 0 2
NGF-related disorder 0 3 0 2 0 0 0 2
NHP2-related disorder 0 2 0 2 0 0 0 2
NICE approved PARP inhibitor treatment 0 6 0 2 0 0 1 2
NICOTINE ADDICTION, PROTECTION AGAINST 0 0 0 0 0 2 0 2
NIPA1-related disorder 0 4 0 1 1 0 0 2
NKX2-5-related disorder 0 6 0 0 2 0 0 2
NLRC4-related disorder 0 7 0 2 0 0 0 2
NMNAT1-related disorder 0 3 0 1 0 0 1 2
NR2F1-related disorder 0 4 0 2 0 0 0 2
NRL-related disorder 0 2 0 2 0 0 1 2
NRP1-related disorder 0 8 0 2 0 0 0 2
NSUN2-related disorder 0 9 0 1 1 0 0 2
NT5E-related disorder 0 2 0 2 0 0 0 2
NUP107-related disorder 0 10 0 1 1 0 0 2
NUP214-related disorder 0 1 0 2 0 0 0 2
NUP85-related disorder 0 8 0 2 0 0 0 2
NUS1-related disorder 0 2 0 2 0 0 0 2
NXF5-related disorder 0 4 0 0 2 0 0 2
NXN-related disorder 0 12 0 2 0 0 0 2
Neonatal hypotonia 0 0 0 2 0 0 0 2
Neonatal seizure 0 0 0 1 0 0 1 2
Neoplasm of the liver 0 5 0 0 2 0 0 2
Neurodevelopmental disorder with epilepsy 0 0 0 0 2 0 0 2
Neurodevelopmental disorders 0 2 0 1 0 0 1 2
Nonsyndromic otitis media 0 2 0 0 1 0 1 2
Noonan Syndrome-like developmental disorder 0 2 0 2 0 0 0 2
OAT-related disorder 0 1 0 0 2 0 0 2
OCLN-related disorder 0 1 0 2 0 0 0 2
OGDH-related disorder 0 9 0 2 0 0 0 2
OGT-related disorder 0 1 0 2 0 0 0 2
OPA3-related disorder 0 2 0 0 1 0 1 2
OPLAH-related disorder 0 11 0 2 0 0 0 2
ORAI1-related disorder 0 1 0 0 1 0 1 2
OSBPL2-related disorder 0 10 0 2 0 0 0 2
OTUD6B-related disorder 0 3 0 0 2 0 0 2
OVARIAN CANCER, EPITHELIAL, SOMATIC 0 1 0 1 0 0 1 2
Other rare neuromuscular disorders 0 2 0 1 0 0 1 2
P4HA2-related disorder 0 3 0 2 0 0 0 2
PAPSS2-related disorder 0 1 0 2 0 0 0 2
PARN-related disorder 0 3 0 0 1 0 1 2
PARP1-related disorder 0 4 0 2 0 0 0 2
PAX2-Related Disorder 0 8 0 1 2 0 0 2
PAX5-related disorder 0 4 0 1 1 0 0 2
PBX1-related disorder 0 2 0 2 0 0 0 2
PCSK5-related disorder 0 0 0 2 0 0 0 2
PDE8B-related disorder 0 7 0 2 0 0 0 2
PDGFB-related disorder 0 3 0 2 0 0 0 2
PDSS2-related disorder 0 9 0 0 2 0 0 2
PDYN-related disorder 0 0 0 2 0 0 0 2
PDZD2-related disorder 0 9 0 2 0 0 0 2
PER3-related disorder 0 5 0 2 0 0 0 2
PFN1-related disorder 0 5 0 2 0 0 0 2
PGM3-related disorder 0 1 0 1 0 0 1 2
PHF2-related disorder 0 2 0 2 0 0 0 2
PHKG2-related disorder 0 1 0 1 1 0 0 2
PIGP-related disorder 0 3 0 2 0 0 0 2
PIGS-related disorder 0 8 0 2 0 0 0 2
PIGT-related disorder 0 6 0 1 1 0 0 2
PIK3C2B-related disorder 0 12 0 2 0 0 0 2
PIK3CA constitutional syndrome 0 4 0 0 0 0 2 2
PIK3R1-related disorder 0 5 0 2 0 0 0 2
PJVK-related disorder 0 3 0 2 1 0 0 2
PKDCC-related disorder 0 1 0 1 1 0 0 2
PLCB4-related disorder 0 9 0 2 0 0 0 2
PLEKHA7-related disorder 0 3 0 2 0 0 0 2
PLIN1-related disorder 0 2 0 2 0 0 0 2
PLS1-related disorder 0 5 0 2 0 0 0 2
PLXNA4-related disorder 0 11 0 2 0 0 0 2
PMPCA-related disorder 0 4 0 0 2 0 0 2
PMPCB-related disorder 0 12 0 2 0 0 0 2
PMS1-related disorder 0 0 0 2 0 0 0 2
PNPLA2-related disorder 0 2 0 0 1 0 1 2
PNPLA8-related disorder 0 4 0 0 2 0 0 2
POC1B-related disorder 0 4 0 1 1 0 0 2
POFUT1-related disorder 0 2 0 2 0 0 0 2
POGLUT1-related disorder 0 4 0 2 0 0 1 2
POLR3A-related neurological disorders 0 2 0 1 0 0 1 2
POMT1-related congenital myopathy 0 0 0 0 0 0 2 2
POP1-related disorder 0 8 0 1 1 0 0 2
PPP1R12A-related disorder 0 1 0 1 1 0 0 2
PPP1R9A-related disorder 0 4 0 2 0 0 0 2
PPP2R1A-related disorder 0 11 0 2 0 0 0 2
PPP3CA-related disorder 0 8 0 1 1 0 0 2
PRICKLE2-related disorder 0 2 0 1 1 0 0 2
PRKAR1A-related disorder 0 5 0 1 0 0 1 2
PRKCD-related disorder 0 1 0 2 0 0 0 2
PROGUANIL, POOR METABOLISM OF 0 0 0 0 0 2 0 2
PRSS1-related disorder 0 1 0 2 0 0 0 2
PSAT1-related disorder 0 8 0 1 0 0 1 2
PSMG2-related disorder 0 0 0 1 1 0 0 2
PSPH-related disorder 0 0 0 1 1 0 0 2
PTBP1-related neurodevelopmental disorder with skeletal dysplasia 0 0 0 0 0 0 2 2
PTCHD1-related disorder 0 0 0 1 1 0 0 2
PTDSS1-related disorder 0 3 0 1 1 0 0 2
PTPN13-related disorder 0 1 0 1 1 0 0 2
PTPN14-related disorder 0 2 0 2 0 0 0 2
PTPRF-related disorder 0 4 0 2 0 0 0 2
PTPRS-related disorder 0 20 0 2 0 0 0 2
PYROXD1-related disorder 0 4 0 2 0 0 0 2
Palmoplantar blistering; Skin fragility with non-scarring blistering 0 2 0 0 2 0 0 2
Parkinson Disease, Dominant/Recessive 0 14 0 2 0 0 0 2
Parkinson disease 5, autosomal dominant, susceptibility to; Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome 0 1 0 2 0 0 0 2
Phenytoin response 0 0 0 0 0 2 0 2
Primary open angle glaucoma; Glaucoma, normal tension, susceptibility to; Amyotrophic lateral sclerosis type 12 0 0 0 2 0 0 0 2
Progressive myoclonic epilepsy type 9; Lipodystrophy, partial, acquired, susceptibility to; Microcephaly 27, primary, autosomal dominant 0 0 0 1 1 0 0 2
Pulmonary fibrosis, idiopathic, susceptibility to 0 0 0 0 1 0 1 2
RAB11FIP5-related disorder 0 1 0 2 0 0 0 2
RAB18-related disorder 0 4 0 1 1 0 0 2
RAB23-related disorder 0 5 0 1 1 0 0 2
RAB39B-related disorder 0 1 0 2 0 0 0 2
RAB7A-related disorder 0 1 0 2 0 0 0 2
RABL3-related disorder 0 0 0 2 0 0 0 2
RAD21-related disorder 0 4 0 1 0 0 1 2
RAG2-related disorder 0 1 0 2 1 0 0 2
RBPJ-related disorder 0 2 0 2 0 0 0 2
REEP1-related disorder 0 7 0 0 2 0 0 2
REEP6-related disorder 0 7 0 1 1 0 0 2
RETINAL DYSTROPHY WITH EXTRAOCULAR ANOMALIES 0 0 0 1 0 0 1 2
RETREG1-related disorder 0 2 0 1 1 0 0 2
RFT1-related disorder 0 2 0 0 2 0 0 2
RGS9BP-related disorder 0 2 0 1 1 0 0 2
RHAG-related disorder 0 4 0 1 1 0 0 2
RHO-related disorder 0 12 0 1 1 0 0 2
RIGI-related disorder 0 5 0 2 0 0 0 2
RINT1-related disorder 0 14 0 2 0 0 0 2
RIPPLY2-related disorder 0 1 0 1 0 0 1 2
RNASEH2B-related disorder 0 2 0 1 1 0 0 2
RNASEL-related disorder 0 0 0 2 0 0 0 2
RNU4ATAC-related spliceosomopathies 0 0 0 1 0 0 1 2
ROBO4-related disorder 0 11 0 2 0 0 0 2
ROM1-related disorder 0 2 0 1 0 0 1 2
RPL18-related disorder 0 4 0 1 1 0 0 2
RPS24-related disorder 0 2 0 2 0 0 0 2
RUSC2-related disorder 0 10 0 1 1 0 0 2
Respiratory insufficiency; Stridor; Bilateral ptosis; Delayed gross motor development 0 0 0 1 0 0 1 2
SATB1-related disorder 0 2 0 2 0 0 0 2
SCARF2-related disorder 0 1 0 2 0 0 0 2
SCN4A-related non-dystrophic myotonia 0 6 0 0 0 0 2 2
SCN4B-related disorder 0 0 0 1 2 0 0 2
SCNN1G-related disorder 0 2 0 1 1 0 0 2
SCRIB-related disorder 0 4 0 2 0 0 0 2
SEMA3F-related disorder 0 4 0 1 1 0 0 2
SEPHS1-related disorder 0 0 0 0 0 0 2 2
SERAC1-related disorder 0 4 0 1 0 0 1 2
SERPINC1-related disorder 0 3 0 1 0 0 1 2
SERPINF2-related disorder 0 3 0 1 1 0 0 2
SERPINI1-related disorder 0 5 0 1 1 0 0 2
SF3B1-related disorder 0 4 0 1 0 0 1 2
SFTPA1-related disorder 0 6 0 2 0 0 0 2
SFTPA2-related disorder 0 7 0 2 0 0 0 2
SFTPC-related disorder 0 2 0 2 0 0 0 2
SGCE-related disorder 0 4 0 1 1 0 0 2
SGCG-related disorder 0 2 0 1 1 0 0 2
SHORT-RIB THORACIC DYSPLASIA 7 WITHOUT POLYDACTYLY 0 0 0 2 0 0 1 2
SHOX-related disorder 0 4 0 1 0 0 1 2
SHROOM4-related disorder 0 5 0 1 1 0 0 2
SIAE-related disorder 0 10 0 2 0 0 0 2
SIK3-related disorder 0 5 0 2 0 0 0 2
SIN3B-related disorder 0 5 0 2 0 0 0 2
SIX1-related disorder 0 5 0 1 1 0 0 2
SIX3-related disorder 0 2 0 1 1 0 0 2
SLC10A7-related disorder 0 4 0 2 0 0 0 2
SLC13A3-related disorder 0 5 0 2 0 0 0 2
SLC16A12-related disorder 0 1 0 2 0 0 0 2
SLC16A2-related disorder 0 0 0 1 1 0 0 2
SLC17A5-related disorder 0 4 0 1 1 0 0 2
SLC17A8-related disorder 0 9 0 1 1 0 0 2
SLC17A9-related disorder 0 3 0 2 0 0 0 2
SLC19A1-related disorder 0 6 0 2 0 0 0 2
SLC19A2-related disorder 0 2 0 1 1 0 0 2
SLC1A4-related disorder 0 5 0 1 1 0 0 2
SLC22A4-related disorder 0 9 0 1 1 0 0 2
SLC24A4-related disorder 0 3 0 2 0 0 0 2
SLC24A5-related disorder 0 4 0 0 1 0 1 2
SLC25A15-related disorder 0 2 0 0 2 0 0 2
SLC25A24-related disorder 0 1 0 2 0 0 0 2
SLC25A3-related disorder 0 2 0 2 0 0 0 2
SLC25A32-related disorder 0 6 0 2 0 0 0 2
SLC30A10-related disorder 0 3 0 1 1 0 0 2
SLC35A1-related disorder 0 2 0 1 1 0 0 2
SLC39A5-related disorder 0 2 0 2 0 0 0 2
SLC39A8-related disorder 0 3 0 2 0 0 0 2
SLC45A1-related disorder 0 4 0 1 1 0 0 2
SLC6A19-related disorder 0 15 0 2 0 0 0 2
SLC6A2-related disorder 0 2 0 2 0 0 0 2
SLC9A9-related disorder 0 3 0 2 0 0 0 2
SMAD9-related disorder 0 2 0 1 2 0 0 2
SMARCC2-related disorder 0 6 0 1 1 0 0 2
SMC1A-related disorder 0 2 0 2 0 0 0 2
SMC3-related disorder 0 5 0 1 1 0 0 2
SMOC1-related disorder 0 4 0 1 1 0 0 2
SMOKING AS A QUANTITATIVE TRAIT LOCUS 3 0 0 0 0 1 0 1 2
SNAI2-related disorder 0 3 0 2 0 0 0 2
SNIP1-related disorder 0 3 0 1 0 0 1 2
SNTA1-related disorder 0 2 0 1 1 0 0 2
SOBP-related disorder 0 0 0 1 1 0 0 2
SOX8-related disorder 0 5 0 2 0 0 0 2
SPINK5-related disorder 0 7 0 1 1 0 0 2
SPTLC1-related disorder 0 4 0 2 0 0 0 2
SREBF2-related disorder 0 1 0 2 0 0 0 2
SRGAP3-related disorder 0 19 0 2 0 0 0 2
ST3GAL5-related disorder 0 1 0 1 1 0 0 2
STAP1-related disorder 0 0 0 2 0 0 0 2
STAT3-related disorder 0 7 0 0 1 0 1 2
STEAP3-related disorder 0 4 0 2 0 0 0 2
STN1-related disorder 0 3 0 1 1 0 0 2
STX1B-related disorder 0 4 0 2 0 0 0 2
STX3-related disorder 0 4 0 2 0 0 0 2
SUCLG1-related disorder 0 3 0 1 1 0 0 2
SULT2B1-related disorder 0 8 0 2 0 0 0 2
SWANN BLOOD GROUP ANTIGEN 0 0 0 0 0 0 2 2
Segmental undergrowth associated with mainly venous malformation with capillary component 0 2 0 1 0 0 1 2
Seizure; Delayed speech and language development; Macrocephaly; Joint laxity; Generalized joint hypermobility 0 0 0 0 2 0 0 2
Seizure; Focal-onset seizure; Irregular menstruation; Confusion; Palpitations; Periventricular heterotopia; Abnormal emotional state 0 0 0 0 0 0 2 2
Severe SARS-CoV-2 infection, susceptibility to 0 0 0 2 0 0 2 2
Severe global developmental delay 0 0 0 2 0 0 0 2
Severe intellectual disability 0 2 0 2 0 1 1 2
Short-rib thoracic dysplasia 10 without polydactyly 0 2 0 0 0 0 2 2
Sialoblastoma 0 0 1 2 0 0 0 2
Sick sinus syndrome 2, autosomal dominant; Brugada syndrome 8; Epilepsy, idiopathic generalized, susceptibility to, 18 0 40 0 0 1 0 1 2
Sitosterolemia; Gallbladder disease 4 0 0 0 0 2 0 0 2
Skeletal dysplaisia with extra-skeletal manifestations 0 0 0 0 0 0 2 2
Skin and Hair Hypopigmentation 0 0 0 0 0 0 2 2
Skin/hair/eye pigmentation 2, blond hair/fair skin 0 0 0 0 0 2 0 2
Spinocerebellar ataxia, X-linked 0 0 0 0 1 1 0 2
Spinocerebellar atrophy 0 2 0 1 0 0 2 2
Spitz Melanocytoma 0 0 0 1 0 0 1 2
Susceptibility to HIV infection; Immunodeficiency 83, susceptibility to viral infections 0 1 0 1 1 0 0 2
Susceptibility to severe coronavirus disease (COVID-19) due to an impaired coagulation process 0 0 0 0 1 0 1 2
Syndromic Infantile Encephalopathy 0 0 0 2 0 0 0 2
TACO1-related disorder 0 3 0 2 0 0 0 2
TACR3-related disorder 0 6 0 2 0 0 0 2
TAF4B-related disorder 0 1 0 2 0 0 0 2
TAOK1-related disorder 0 6 0 2 0 0 0 2
TAP2-related disorder 0 2 0 1 1 0 0 2
TAPBP-related disorder 0 1 0 2 0 0 0 2
TBL1XR1-related disorder 0 6 0 2 0 0 0 2
TCTN2-related disorder 0 2 0 2 0 0 0 2
TEK-related disorder 0 4 0 2 0 0 0 2
TET1-related disorder 0 5 0 2 0 0 0 2
TET3 deficiency 0 1 0 1 0 0 1 2
TET3-related disorder 0 19 0 2 0 0 0 2
TFR2-related disorder 0 2 0 1 1 0 0 2
TFRC-related disorder 0 6 0 1 0 0 1 2
TGFBI-related disorder 0 0 0 2 0 0 0 2
THADA-related disorder 0 3 0 2 0 0 0 2
THRA-related disorder 0 1 0 1 1 0 0 2
TIMP3-related disorder 0 2 0 2 0 0 0 2
TKT-related disorder 0 2 0 1 1 0 0 2
TLR2-related disorder 0 2 0 2 0 0 0 2
TMC8-related disorder 0 3 0 2 0 0 0 2
TMEM199-related disorder 0 1 0 1 1 0 0 2
TMEM237-related disorder 0 5 0 0 2 0 0 2
TMEM260-related disorder 0 5 0 1 1 0 0 2
TMPO-related disorder 0 11 0 2 0 0 0 2
TMTC3-related disorder 0 9 0 2 0 0 0 2
TNFRSF6B-related disorder 0 15 0 1 1 0 0 2
TNFSF12-related disorder 0 2 0 1 1 0 0 2
TOP3B-related disorder 0 6 0 2 0 0 0 2
TRAIP-related disorder 0 6 0 1 1 0 0 2
TRAPPC2-related disorder 0 0 0 1 0 0 1 2
TRAPPC6B-related disorder 0 1 0 2 0 0 0 2
TRDN-related disorder 0 8 0 2 0 0 0 2
TRHR-related disorder 0 0 0 2 0 0 0 2
TRIM37-related disorder 0 2 0 2 0 0 0 2
TRIP12-related disorder 0 8 0 2 0 0 0 2
TRIP4-related disorder 0 10 0 2 0 0 0 2
TRIT1-related disorder 0 1 0 2 0 0 0 2
TRMT10A-related disorder 0 3 0 1 1 0 0 2
TSGA10-related disorder 0 1 0 2 0 0 0 2
TSHZ1-related disorder 0 6 0 2 0 0 0 2
TSPAN12-related disorder 0 3 0 1 1 0 0 2
TSPEAR-related disorder of tooth and hair follicle morphogenesis 0 0 0 2 0 0 0 2
TTC21A-related disorder 0 3 0 2 0 0 0 2
TUBA1A-associated tubulinopathy 0 0 0 1 0 0 1 2
TUBB2A-related disorder 0 3 0 1 0 0 1 2
TUBB2B-related disorder 0 0 0 0 1 0 1 2
TUBG1-related disorder 0 1 0 2 0 0 0 2
TUBGCP2-related disorder 0 9 0 2 0 0 0 2
TWIST1-related disorder 0 2 0 0 2 0 0 2
TXN2-related disorder 0 1 0 2 0 0 0 2
Thromboembolism 0 0 0 1 0 0 1 2
Tryptophan 5-monooxygenase deficiency 0 6 0 2 0 0 0 2
Tyrosine kinase inhibitor response 0 0 0 0 0 2 0 2
UBA1-related disorder 0 6 0 2 0 0 0 2
UBA5-related disorder 0 4 1 2 0 0 0 2
UBAP1-related disorder 0 2 0 1 1 0 0 2
UNC119-related disorder 0 6 0 0 2 0 0 2
UPK3A-related disorder 0 1 0 1 1 0 0 2
UQCRB-related disorder 0 1 0 2 1 0 0 2
UQCRQ-related disorder 0 0 0 1 1 0 0 2
USB1-related disorder 0 4 0 2 0 0 0 2
USHER SYNDROME, TYPE ID/F, DIGENIC 0 2 0 0 0 0 2 2
USP26-related disorder 0 3 0 2 0 0 0 2
VAC14-related disorder 0 10 0 1 1 0 0 2
VARS1-related disorder 0 7 0 1 1 0 0 2
VAX1-related disorder 0 0 0 0 2 0 0 2
VKORC1-related disorder 0 1 0 2 0 1 0 2
VSX1-related disorder 0 3 0 2 0 0 0 2
Vascular Tumors Including Pyogenic Granuloma 0 1 0 2 0 0 0 2
Vascular skin disorders 0 4 0 2 0 0 1 2
Very early onset inflammatory bowel disease 0 0 0 0 0 0 2 2
Vitiligo-associated multiple autoimmune disease susceptibility 1; Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome; Autoinflammation with arthritis and dyskeratosis; Respiratory papillomatosis, juvenile recurrent, congenital 0 9 0 1 1 0 0 2
Vulvar adenocarcinoma of mammary gland type 0 0 0 2 0 0 0 2
WARS1-related disorder 0 5 0 2 0 0 0 2
WIPF1-related disorder 0 3 0 0 2 0 0 2
X-linked MED12-related disorder 0 0 0 0 0 0 2 2
X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency; Granulomatous disease, chronic, X-linked 0 3 0 2 0 0 0 2
XPA-related disorder 0 5 0 2 1 0 0 2
XRCC1-related disorder 0 3 0 2 0 0 0 2
YWHAE-related disorder 0 4 0 2 0 0 0 2
YY1AP1-related disorder 0 6 0 2 0 0 0 2
ZC3H4-related disorder 0 5 0 2 0 0 0 2
ZHX3-related disorder 0 4 0 2 1 0 0 2
ZIC3-related disorder 0 2 0 0 2 0 0 2
ZMYND11-related disorder 0 1 0 2 0 0 0 2
ZNF143-related disorder 0 9 0 2 0 0 0 2
ZNF41-related disorder 0 1 0 1 1 0 0 2
ZNF513-related disorder 0 3 0 1 1 0 0 2
ZNF644-related disorder 0 0 0 2 0 0 0 2
ZNF81-related disorder 0 0 0 2 0 0 0 2
ZNFX1-related disorder 0 4 0 2 0 0 0 2
aminoglycoside antibacterials response - Toxicity 0 0 0 0 0 2 0 2
atypical cerebral palsy 0 3 0 0 2 0 0 2
autosomal recessive MVK-related disorders 0 0 0 2 0 0 0 2
chronic fatigue syndrome with infection-triggered onset 0 0 0 0 0 1 1 2
distinct bent bone dysplasia 0 0 0 0 0 0 2 2
epileptic encephalopathy, early infanitle, 1 0 0 0 0 2 0 0 2
gentamicin response - Toxicity 0 0 0 0 0 2 0 2
kanamycin response - Toxicity 0 0 0 0 0 2 0 2
methotrexate response - Efficacy 0 0 0 0 0 2 0 2
oligodendroglioma, 1p 19q codeleted 0 0 0 1 0 0 2 2
peginterferon alfa-2b and ribavirin response - Toxicity 0 0 0 0 0 2 0 2
phenprocoumon response - Dosage 0 0 0 0 0 2 0 2
sporadic abdominal aortic aneurysm 0 0 0 0 0 0 2 2
streptomycin response - Toxicity 0 0 0 0 0 2 0 2
11p13 microduplication syndrome 0 0 0 0 1 1 1 1
11p13p14 deletion 0 0 0 1 0 1 1 1
16p12.3p13.12 deletion 0 0 0 1 0 1 1 1
16p13.1 duplication 0 0 0 1 0 1 1 1
16p13.11 recurrent microdeletion syndrome 0 0 0 1 0 1 1 1
16p13.2-p13.13 microduplication syndrome 0 0 0 1 0 1 1 1
1p13.3 deletion syndrome 0 0 0 1 0 1 1 1
1q24q25 microdeletion syndrome 0 0 0 1 0 1 1 1
21-HYDROXYLASE POLYMORPHISM 0 0 0 1 0 0 0 1
22q13.3 interstitial deletion 0 0 0 1 0 1 1 1
3p25.3p26.3 deletion 0 0 0 1 0 1 1 1
6q14.1q15 deletion 0 0 0 1 0 1 1 1
AARS-related disorder 0 0 0 0 0 0 1 1
AASS-related disorder 0 2 0 1 1 0 0 1
ABCA13-related neurodevelopmental condition 0 0 0 1 0 0 0 1
ABCA5-related disorder 0 9 0 1 0 0 0 1
ABCB4-Related Intrahepatic Cholestasis 0 0 0 0 0 0 1 1
ABHD14A-ACY1-related disorder 0 1 0 1 0 0 0 1
ABO blood group system 0 0 0 0 0 1 0 1
ACAD8-related disorder 0 3 0 0 0 0 1 1
ACD-related disorder 0 4 0 0 1 0 0 1
ACER3-related disorder 0 4 0 1 0 0 0 1
ACHE-related disorder 0 1 0 1 0 0 0 1
ACP4-related disorder 0 0 0 1 0 0 0 1
ACP5-related disorder 0 1 0 0 1 0 0 1
ACSL4-related disorder 0 2 0 1 1 0 0 1
ACSL6-related disorder 0 0 0 0 1 0 0 1
ACSS2-related disorder 0 1 0 1 0 0 0 1
ACTA2-related disorder 0 7 0 1 0 0 0 1
ACTL6A-related intellectual disability, autosomal dominant 0 0 0 1 0 0 1 1
ACTL6B-related recessive epilepsy 0 3 0 0 0 0 1 1
ACTRT1-related disorder 0 3 0 0 1 0 0 1
ADAMTS3-related disorder 0 11 0 1 0 0 0 1
ADGRE1-related disorder 0 0 0 1 0 0 0 1
ADGRG2-related disorder 0 1 0 1 0 0 0 1
ADK-related disorder 0 3 0 1 0 0 0 1
ADORA1-related disorder 0 2 0 1 0 0 0 1
ADRB1-related disorder 0 1 0 1 0 0 0 1
AGA-related disorder 0 1 0 1 0 0 0 1
AGBL1-related disorder 0 1 0 1 0 0 0 1
AGO1-related neurodevelopmental disorder 0 0 0 1 0 0 0 1
AGTR1-related disorder 0 1 0 0 1 0 0 1
AHSP-related disorder 0 1 0 0 1 0 0 1
AIMP2-related disorder 0 5 0 1 0 0 0 1
AK1-related condition 0 0 0 1 0 0 0 1
AKT2-related disorder 0 3 0 1 0 0 0 1
ALAD*1/ALAD*2 POLYMORPHISM 0 0 0 0 0 0 1 1
ALB-related disorder 0 1 0 1 0 0 1 1
ALBUMIN MEXICO 2 0 0 0 0 0 1 0 1
ALBUMIN NAGASAKI 2 0 0 0 0 0 1 0 1
ALBUMIN VANCOUVER 0 0 0 0 0 1 0 1
ALDH6A1-related disorder 0 5 0 1 1 0 0 1
ALG11-related disorder 0 1 0 0 1 0 0 1
ALG12-related disorder 0 4 0 1 0 0 0 1
ALG2-related disorder 0 2 0 1 0 0 0 1
ALOXE3-related disorder 0 9 0 0 1 0 0 1
ALPK2-related disorder 0 3 0 1 0 0 0 1
ALX1-related disorder 0 2 0 1 0 0 0 1
ALX3-related disorder 0 0 0 1 0 0 0 1
AMH-related disorder 0 5 0 1 0 0 1 1
AMPD2-related disorder 0 8 0 0 1 0 0 1
AMT-related disorder 0 4 0 1 0 0 0 1
AMYLOIDOSIS, HEREDITARY SYSTEMIC 1, MODIFIER OF 0 0 0 0 0 0 1 1
AMYOTROPHIC LATERAL SCLEROSIS 26 WITH FRONTOTEMPORAL DEMENTIA 0 0 0 1 0 0 0 1
AMZ2-related disorder 0 0 0 1 0 0 0 1
ANK2-related epilepsy 0 0 0 1 0 0 0 1
ANKRD17-related disorder 0 5 0 1 0 0 0 1
ANKRD6-related disorder 0 0 0 1 0 0 0 1
ANO5 Muscle Disease 0 0 0 1 0 0 0 1
ANTICHYMOTRYPSIN BONN 1 0 0 0 0 0 0 1 1
ANTICHYMOTRYPSIN ISEHARA 2 0 0 0 1 0 0 0 1
ANXA1-related disorder 0 0 0 1 0 0 0 1
AP1S1-related disorder 0 4 0 1 0 0 0 1
AP1S2-related disorder 0 0 0 1 0 0 0 1
AP2S1-related Neurodevelopmental disorder 0 0 0 0 0 0 1 1
AP2S1-related disorder 0 4 0 0 0 0 1 1
APC-mutation negative familial colorectal cancer 0 0 0 0 0 0 1 1
APEX1-related disorder 0 3 0 1 0 0 0 1
APOB POLYMORPHISM IN SIGNAL PEPTIDE 0 0 0 0 1 0 0 1
APOBEC3B-related condition 0 0 0 1 0 0 0 1
APOC3-related disorder 0 0 0 1 0 0 0 1
APOE-related disorder 0 6 0 1 1 0 0 1
APOE5 VARIANT 0 0 0 0 0 0 1 1
APOLIPOPROTEIN A-I (BALTIMORE) 0 0 0 0 0 0 1 1
APOLIPOPROTEIN A-I (GIESSEN) 0 0 0 0 0 0 1 1
APOLIPOPROTEIN A-I (MUNSTER3B) 0 0 0 0 0 0 1 1
APOLIPOPROTEIN A-I (MUNSTER4) 0 0 0 0 0 0 1 1
APOLIPOPROTEIN A-I (NORWAY) 0 0 0 0 0 0 1 1
APOLIPOPROTEIN A-IV POLYMORPHISM, APOA4*1/APOA4*2 0 0 0 0 0 0 1 1
APOLIPOPROTEIN A-IV RARE VARIANT, APOA4*0 0 0 0 0 0 1 0 1
APOLIPOPROTEIN A-IV RARE VARIANT, APOA4*3 0 0 0 0 0 1 0 1
APOLIPOPROTEIN C-II (AFRICAN) 0 0 0 0 0 0 1 1
APOLIPOPROTEIN C-II (PADOVA) 0 0 0 1 0 0 0 1
APOLIPOPROTEIN C-II (SAN FRANCISCO) 0 0 0 0 0 0 1 1
APOLIPOPROTEIN(a), TYPE C POLYMORPHISM 0 0 0 0 1 0 0 1
APOLIPOPROTEIN(a), TYPE D POLYMORPHISM 0 0 0 0 1 0 0 1
APP POLYMORPHISM 0 0 0 1 0 0 0 1
APPL1-related disorder 0 7 0 1 0 0 0 1
APRT-related disorder 0 2 0 1 0 0 0 1
AQP2-related disorder 0 0 0 1 0 0 0 1
ARF1-related disorder 0 1 0 1 0 0 0 1
ARF3-related disorder 0 0 0 1 0 0 0 1
ARFGEF3-related disorder 0 9 0 1 0 0 0 1
ARHGEF9-related disorder 0 4 0 1 1 0 0 1
ARL13B-related disorder 0 3 0 0 1 0 0 1
ARYLSULFATASE A PSEUDODEFICIENCY, INTERMEDIATE 0 0 0 1 0 0 0 1
ASHER 0 0 0 0 0 0 1 1
ASMT-related disorder 0 0 0 0 1 0 0 1
ATAD3 gene cluster related condition 0 0 0 0 1 1 1 1
ATAD3A-related condition 0 0 0 0 0 0 1 1
ATAD3A-related mitochondrial disorders 0 0 0 1 0 0 0 1
ATAD5-related disorder 0 6 0 1 0 0 0 1
ATCAY-related disorder 0 4 0 1 0 0 0 1
ATG2B-related disorder 0 7 0 1 0 0 0 1
ATG4D-related neurodevelopmental condition 0 0 0 0 0 0 1 1
ATP11C-related disorder 0 3 0 1 0 0 0 1
ATP2B1-related disorder 0 0 0 0 0 0 1 1
ATP2B2-related Progressive hearing impairment 0 0 0 0 0 0 1 1
ATP5F1D-related disorder 0 8 0 0 1 0 0 1
ATP6V1B2-related disorder 0 0 0 1 0 0 0 1
ATRIAL STANDSTILL 1, DIGENIC 0 1 0 0 0 0 1 1
ATRN-related disorder 0 22 0 1 0 0 0 1
AUH-related disorder 0 4 0 0 1 0 0 1
AUTONOMIC NERVOUS SYSTEM DYSFUNCTION 0 0 0 0 0 0 1 1
AV junctional rhythm 0 0 0 0 1 0 0 1
AVPR2-related disorder 0 4 0 1 0 0 0 1
Abnormal activity of mitochondrial respiratory chain 0 0 0 0 0 0 1 1
Abnormal blistering of the skin; Porphyrinuria; Abdominal colic 0 0 0 1 0 0 0 1
Abnormal brainstem morphology; Abnormal cortical gyration 0 0 0 1 0 0 0 1
Abnormal cardiac test 0 0 0 0 0 0 1 1
Abnormal circulating carbohydrate concentration 0 0 0 1 0 0 0 1
Abnormal circulating enzyme concentration; Rhabdomyolysis 0 0 0 1 0 0 0 1
Abnormal circulating lipid concentration 0 0 0 1 0 0 0 1
Abnormal intrahepatic bile duct morphology 0 1 0 1 0 0 0 1
Abnormal lung growth, pulmonary hypertension, microcephaly, and spasticity 0 0 0 1 0 0 0 1
Abnormal optic nerve morphology 0 0 0 1 0 0 0 1
Abnormal platelet aggregation 0 0 0 1 0 0 0 1
Abnormal platelet function 0 0 0 0 0 0 1 1
Abnormality of connective tissue 0 0 0 1 0 0 0 1
Abnormality of corpus callosum 0 0 0 1 0 0 0 1
Abnormality of refraction 0 0 0 0 1 0 0 1
Abnormality of the immune system 0 0 0 0 0 0 1 1
Acanthocytosis 0 0 0 0 1 0 1 1
Acid alpha-glucosidase, allele 2 0 0 0 1 0 1 0 1
Acid alpha-glucosidase, allele 4 0 0 0 0 0 0 1 1
Acquired partial lipodystrophy 0 2 0 1 0 0 1 1
Acquired susceptibility to long QT syndrome 1 0 0 0 1 0 0 0 1
Acromesomelic dysplasia 2C, Hunter-Thompson type; Type A2 brachydactyly; Brachydactyly type C; Grebe syndrome; Multiple synostoses syndrome 2; Acromesomelic dysplasia 2B; Brachydactyly type A1C; Symphalangism, proximal, 1B; Osteoarthritis susceptibility 5 0 1 0 1 0 0 0 1
Acute episodes of neuropathic symptoms; Abnormality of pain sensation 0 0 0 1 0 0 0 1
Acyl-CoA dehydrogenase deficiency, glutaric acidemia type II 0 0 0 1 0 0 0 1
Adenosine deaminase 2 allozyme 0 0 0 0 0 0 1 1
Adrenocortical tumor, somatic 0 1 0 0 0 0 1 1
Adult onset hereditary spastic paraplegia 0 0 0 1 0 0 0 1
Aldosterone-producing adrenal adenoma, somatic 0 0 0 1 0 0 0 1
Alport syndrome 1 0 0 0 1 0 0 0 1
Alzheimer disease, familial, 3, with spastic paraparesis and apraxia 0 0 0 1 0 0 0 1
Alzheimer disease, late-onset, susceptibility to 0 0 0 0 0 0 1 1
Aminoaciduria 0 0 0 1 0 1 1 1
Amyotrophic Lateral Sclerosis with Sensory Neuropathy 0 0 0 1 0 0 0 1
Androgen deprivation therapy response 0 0 0 0 0 1 0 1
Aortic dilatation 0 1 0 0 1 0 0 1
Apolipoprotein c-ii variant 0 0 0 1 0 0 1 1
Arthrogryphosis 0 0 0 0 1 1 1 1
Ascending tubular aorta aneurysm; Vascular dilatation 0 1 0 0 1 0 0 1
Asplenia 0 0 0 1 0 0 0 1
Asthenoteratozoospermia 0 0 0 0 0 0 1 1
Asthma, protection against 0 0 0 0 0 1 0 1
Astrocytoma, low-grade, somatic 0 0 0 0 0 0 1 1
Ataxia _ Neurologic (child onset); Non-progressive congenital cerebellar ataxia 0 0 0 1 0 0 0 1
Ataxia with Dysarthria 0 0 0 0 0 0 1 1
Ataxia-telangiectasia without immunodeficiency 0 1 0 1 0 0 0 1
Ataxia; intellectual deficiency 0 0 0 1 0 0 0 1
Atrioventricular septal defect, partial, with heterotaxy syndrome 0 0 0 0 0 0 1 1
Atypical behavior 0 1 0 1 0 0 0 1
Atypical behavior; Low-set ears; Prominent nasal bridge; Underdeveloped nasal alae; Mild intellectual disability; Secondary microcephaly 0 0 0 0 1 1 1 1
Atypical behavior; Moderate global developmental delay 0 0 0 0 1 1 1 1
Atypical retinitis pigmentosa 0 0 0 0 0 0 1 1
Autism, severe; intellectual deficiency 0 0 0 1 0 0 0 1
Autistic behavior; Absent speech 0 0 0 0 1 1 1 1
Autistic behavior; Delayed fine motor development; Severe global developmental delay; Abnormal brainstem MRI signal intensity 0 0 0 1 0 0 0 1
Autoimmune lymphoproliferative syndrome with defective apoptosis 0 0 0 0 0 0 1 1
Autosomal Dominant TRPV4-Related Disorders 0 0 0 1 0 0 0 1
Autosomal dominant ABCC8-related disorders 0 0 0 1 0 0 0 1
Autosomal dominant ALPL-related disorders 0 0 0 1 0 0 0 1
Autosomal dominant ATP1A3-related disorders 0 0 0 1 0 0 0 1
Autosomal dominant BEST1-related disorders 0 0 0 1 0 0 0 1
Autosomal dominant BRCA2-related cancer types 0 4 0 1 0 0 1 1
Autosomal dominant C19orf12-related disorders 0 0 0 1 0 0 0 1
Autosomal dominant CACNA1G-related disorders 0 0 0 1 0 0 0 1
Autosomal dominant COL11A1-related disorders 0 1 0 0 0 0 1 1
Autosomal dominant COL1A1-related disorders 0 0 0 1 0 0 0 1
Autosomal dominant COL1A2-related disorders 0 0 0 1 0 0 0 1
Autosomal dominant CTCF-related disorders 0 0 0 1 0 0 0 1
Autosomal dominant FGG-related disorders 0 0 0 1 0 0 0 1
Autosomal dominant FLG-related disorders 0 0 0 1 0 0 1 1
Autosomal dominant HNF1B-related disorders 0 0 0 0 0 0 1 1
Autosomal dominant LRP5-related disorders 0 0 0 0 0 0 1 1
Autosomal dominant MPZ-related disorders 0 1 0 1 0 0 0 1
Autosomal dominant MYBPC3-related disorders 0 1 0 1 0 0 0 1
Autosomal dominant NF1-related disorders 0 3 0 1 0 0 0 1
Autosomal dominant PAX2-related disorders 0 0 0 1 0 0 0 1
Autosomal dominant PAX6-related disorders 0 0 0 1 0 0 0 1
Autosomal dominant PSEN1-related disorders 0 1 0 1 0 0 0 1
Autosomal dominant SCN4A-related disorders 0 0 0 1 0 0 0 1
Autosomal dominant SCN8A-related disorders 0 2 0 1 0 0 0 1
Autosomal dominant SLC4A1-related disorders 0 0 0 1 0 0 0 1
Autosomal dominant SMAD6-related disorders 0 1 0 1 0 0 0 1
Autosomal dominant TPM1-related disorders 0 0 0 1 0 0 0 1
Autosomal dominant and autosomal recessive ABCA1-related disorders 0 0 0 1 0 0 0 1
Autosomal dominant and autosomal recessive STUB1-related disorders 0 0 0 0 0 0 1 1
Autosomal dominant familial hypercholesterolemia 0 0 0 1 0 0 0 1
Autosomal dominant hereditary axonal motor and sensory neuropathy 0 0 0 0 0 0 1 1
Autosomal recessive ABCB4-related disorders 0 0 0 1 0 0 0 1
Autosomal recessive AIPL1-related disorders 0 0 0 1 0 0 0 1
Autosomal recessive ALPL-related disorders 0 3 0 1 0 0 0 1
Autosomal recessive AMACR-related disorders 0 0 0 1 0 0 0 1
Autosomal recessive BBS2-related disorders 0 0 0 1 0 0 0 1
Autosomal recessive BCHE-related disorders 0 1 0 1 0 0 0 1
Autosomal recessive CC2D2A-related disorders 0 3 0 1 0 0 0 1
Autosomal recessive CEP104-related disorders 0 0 0 1 0 0 1 1
Autosomal recessive CLCNKB-related disorders 0 0 0 1 0 0 0 1
Autosomal recessive CLPB-related disorders 0 0 0 0 0 0 1 1
Autosomal recessive COQ2-related disorders 0 0 0 1 0 0 0 1
Autosomal recessive CPT2-related disorders 0 0 0 1 0 0 0 1
Autosomal recessive CRB2-related disorders 0 0 0 1 0 0 0 1
Autosomal recessive DGUOK-related disorders 0 0 0 1 0 0 1 1
Autosomal recessive Dejerine-Sottas syndrome 0 2 0 1 0 0 0 1
Autosomal recessive ENPP1-related disorders 0 0 0 0 0 0 1 1
Autosomal recessive EPG5-related disorders 0 0 0 1 0 0 0 1
Autosomal recessive ERCC4-related disorders 0 0 0 1 0 0 1 1
Autosomal recessive FAT4-related disorders 0 0 0 1 0 0 0 1
Autosomal recessive GBA-related disorders 0 0 0 1 0 0 0 1
Autosomal recessive GBA1-related disorders 0 0 0 0 0 0 1 1
Autosomal recessive GBE1-related disorders 0 0 0 1 0 0 0 1
Autosomal recessive GMPPB-related disorders 0 0 0 1 0 0 0 1
Autosomal recessive GOSR2-related disorders 0 0 0 1 0 0 0 1
Autosomal recessive HEXA-related disorders 0 0 0 1 0 0 0 1
Autosomal recessive KIAA0586-related disorders 0 0 0 1 0 0 0 1
Autosomal recessive LRP5-related disorders 0 0 0 1 0 0 0 1
Autosomal recessive MADD-related disorders 0 0 0 1 0 0 1 1
Autosomal recessive MPV17-related disorders 0 0 0 1 0 0 0 1
Autosomal recessive MUTYH-related disorders 0 0 0 0 0 0 1 1
Autosomal recessive MYO7A-related disorders 0 1 0 1 0 0 0 1
Autosomal recessive NBAS-related disorders 0 0 0 1 0 0 0 1
Autosomal recessive NEU1-related disorders 0 0 0 1 0 0 0 1
Autosomal recessive NPC1-related disorders 0 1 0 0 0 0 1 1
Autosomal recessive NPHP4-related disorders 0 0 0 1 0 0 0 1
Autosomal recessive OCA2-related disorders 0 0 0 1 0 0 0 1
Autosomal recessive PLEKHG5-related disorders 0 0 0 1 0 0 0 1
Autosomal recessive PNKP-related disorders 0 1 0 1 0 0 0 1
Autosomal recessive PNPLA6-related disorders 0 1 0 1 0 0 0 1
Autosomal recessive PNPT1-related disorders 0 0 0 1 0 0 0 1
Autosomal recessive POMGNT1-related disorders 0 0 0 1 0 0 0 1
Autosomal recessive RPE65-related disorders 0 0 0 1 0 0 0 1
Autosomal recessive RPGRIP1L-related disorders 0 0 0 1 0 0 0 1
Autosomal recessive SERPINA1-related disorders 0 0 0 0 0 1 0 1
Autosomal recessive SPATA7-related disorders 0 1 0 1 0 0 1 1
Autosomal recessive TCTN3-related disorders 0 0 0 1 0 0 0 1
Autosomal recessive TK2-related disorders 0 0 0 1 0 0 0 1
Autosomal recessive TMEM216-related disorders 0 0 0 0 0 0 1 1
Autosomal recessive VPS33B-related disorders 0 0 0 1 0 0 0 1
Autosomal recessive chorioretinopathy-microcephaly syndrome 0 0 0 1 0 0 0 1
Autosomal recessive infantile epilepsy 0 0 0 0 1 0 0 1
Autosomal recessive nonsyndromic postaxial polydactyly 0 0 0 0 0 0 1 1
Autosomal recessive syndrome of syndactyly, undescended testes and central nervous system defects 0 0 0 0 0 0 1 1
Autosomal semidominant ABCC8-related disorders 0 0 0 1 0 0 0 1
Autosomal semidominant RYR1-related disorders 0 0 0 1 0 0 0 1
Autosomal-Recessive Hereditary Hearing Impairment 0 0 0 0 0 0 1 1
Autosomal. recessive NPHP4-related disorders 0 0 0 0 0 0 1 1
Axial myopathy, late-onset 0 0 0 0 1 0 0 1
B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified 0 2 0 0 1 0 0 1
B3GAT3-related disorder 0 1 0 0 0 0 1 1
B4GALT1-related disorder 0 4 0 1 0 0 0 1
B4GAT1-related disorder 0 2 0 1 0 0 0 1
B9D1-related disorder 0 3 0 1 0 0 0 1
BAK PLATELET-SPECIFIC ANTIGEN 0 0 0 0 0 1 0 1
BARTTER SYNDROME, TYPE 4B, WITH SENSORINEURAL DEAFNESS 0 0 0 1 0 0 0 1
BAZ1B-related disorder 0 1 0 1 0 0 0 1
BCAP31-related disorder 0 5 0 1 1 0 0 1
BCHE, H variant 0 0 0 1 0 0 0 1
BCHE, flouride 1 0 0 0 0 0 0 1 1
BCHE, fluoride 2 0 0 0 1 0 0 0 1
BCL2L2-PABPN1-related disorder 0 0 0 0 1 0 0 1
BCL9-related disorder 0 0 0 1 0 0 0 1
BCO1-related disorder 0 1 0 1 0 0 0 1
BEAN1-related disorder 0 1 0 1 0 0 0 1
BETA-HEXOSAMINIDASE A, PSEUDODEFICIENCY OF 0 0 0 0 0 1 1 1
BF*FA/S 0 0 0 1 0 0 0 1
BHLHA9-related disorder 0 2 0 0 1 0 0 1
BIN1-related disorder 0 2 0 0 0 0 1 1
BJORNSTAD SYNDROME WITH MILD MITOCHONDRIAL COMPLEX III DEFICIENCY 0 1 0 1 0 0 0 1
BLNK-related disorder 0 1 0 1 0 0 0 1
BLOOD GROUP, JUNIOR SYSTEM 0 0 0 0 0 1 0 1
BLOOD GROUP--DIEGO SYSTEM 0 0 0 1 0 0 0 1
BLOOD GROUP--WALDNER TYPE 0 0 0 0 0 1 0 1
BLOOD GROUP--WRIGHT ANTIGEN 0 0 0 0 0 1 0 1
BLVRA-related disorder 0 4 0 1 0 0 0 1
BMP7-related disorder 0 3 0 1 0 0 0 1
BMS1-related disorder 0 13 0 1 0 0 0 1
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 4 0 3 0 1 0 0 0 1
BPNT2-related disorder 0 2 0 1 0 0 0 1
BRAT1-associated neurodegenerative disorder 0 0 0 1 0 0 0 1
BREAST CANCER, PROTECTION AGAINST 0 0 0 0 0 1 0 1
BRF1-related disorder 0 2 0 1 0 0 0 1
BRPF1-related disorder 0 14 0 1 0 0 0 1
BSCL2-related disorder 0 10 0 1 0 0 0 1
BSN-associated neurodevelopmental disorder 0 0 0 0 0 0 1 1
BTRC-related disorder 0 6 0 1 0 0 0 1
Bardet-Biedl syndrome 1/7, digenic 0 0 0 0 0 0 1 1
Basal cell carcinoma, susceptibility to, 1; Curry-Jones syndrome; Congenital hypothalamic hamartoma syndrome 0 0 0 1 0 0 0 1
Basal cell carcinoma, susceptibility to, 1; Medulloblastoma 0 3 0 1 0 0 0 1
Becker muscular dystrophy, atypical 0 0 0 0 0 0 1 1
Bernard-Soulier syndrome type C 0 3 0 0 0 0 1 1
Bernard-Soulier syndrome, type B 0 0 0 1 0 0 0 1
Bilateral cryptorchidism; Microphallus 0 0 0 0 1 0 0 1
Bilateral hearing loss, bilateral enlarged vestibular aqueduct (EVA) 0 0 0 0 0 0 1 1
Blood group, I system 0 8 0 1 0 0 0 1
Body mass index quantitative trait locus 12 0 0 0 0 0 0 1 1
Branchiootorenal syndrome with cataract 0 0 0 0 0 0 1 1
Breast cancer, invasive, susceptibility to 0 0 0 0 0 0 1 1
Breast cancer, susceptibility to, in BRCA1 and BRCA2 carriers 0 0 0 0 0 0 1 1
Bruising susceptibility; Fragile skin; Joint hypermobility 0 0 0 1 0 0 0 1
Budd-Chiari syndrome, susceptibility to 0 0 1 0 0 0 0 1
Budd-Chiari syndrome, susceptibility to, somatic 0 0 1 1 0 0 0 1
Bulbar palsy; Recurrent respiratory infections; Epileptic encephalopathy 0 0 0 1 0 0 0 1
Bullous lung disease 0 0 0 0 1 0 1 1
Butyrylcholinesterase activity 0 0 0 1 0 0 1 1
C11orf65-related disorder 0 0 0 0 1 0 0 1
C19orf12-related disorder 0 0 0 1 0 0 0 1
C1QA-related disorder 0 0 0 1 0 0 0 1
C1QB-related disorder 0 4 0 1 0 0 0 1
C2 deficiency, type I 0 0 0 1 0 0 0 1
C2 deficiency, type II 0 0 0 0 0 0 1 1
C7 and C6 deficiency, combined subtotal 0 0 0 0 0 0 1 1
C8A-related disorder 0 12 0 0 1 0 0 1
CA2-related disorder 0 3 0 0 1 0 0 1
CACNA1A-associated disorders 0 0 0 1 0 0 0 1
CACNG2-related disorder 0 1 0 0 1 0 0 1
CALCR-related disorder 0 2 0 1 0 0 0 1
CAMK2A-related disorder 0 2 0 0 1 0 0 1
CAP-congenital myopathy with arthrogryposis multiplex congenita without heart involvement 0 0 0 1 0 0 0 1
CARBONIC ANHYDRASE II VARIANT 0 0 0 0 0 0 1 1
CARD10-related disorder 0 4 0 1 0 0 0 1
CARD8-related disorder 0 12 0 0 1 0 0 1
CARDIOMYOPATHY, DILATED, 2N 0 1 0 0 0 0 1 1
CARS1-related disorder 0 1 0 0 1 0 0 1
CASP12-related disorder 0 0 0 1 0 0 0 1
CASP9-related disorder 0 5 0 1 0 0 0 1
CASQ2-related disorder 0 2 0 0 1 0 0 1
CASR-related calcium metabolism disorders 0 0 0 1 0 0 0 1
CASTOR3-related condition 0 0 0 1 0 0 0 1
CATSPER1-related disorder 0 3 0 0 1 0 0 1
CAV1-related disorder 0 0 0 0 1 0 0 1
CBS POLYMORPHISM 0 0 0 1 0 0 0 1
CCAR2-related disorder 0 1 0 1 0 0 0 1
CCDC141-related disorder 0 12 0 0 1 0 0 1
CCDC174-related disorder 0 3 0 1 0 0 0 1
CCDC22-related disorder 0 3 0 1 0 0 0 1
CCDC47-related disorder 0 1 0 0 1 0 0 1
CCDC82-Related Disorders 0 0 0 1 0 0 1 1
CCNF-related disorder 0 2 0 1 0 0 0 1
CCT5-related disorder 0 1 0 1 0 0 0 1
CD209-related disorder 0 0 0 0 1 0 0 1
CD247-related disorder 0 1 0 1 0 0 0 1
CD320-related disorder 0 0 0 0 0 1 1 1
CD3E-related disorder 0 1 0 1 0 0 0 1
CD4-related disorder 0 1 0 1 0 0 0 1
CD59-related disorder 0 1 0 1 0 0 0 1
CD70-related disorder 0 1 0 1 0 0 0 1
CD81-related disorder 0 5 0 1 0 0 0 1
CDC42BPB-related disorder 0 14 0 1 0 0 0 1
CDH11-related disorder 0 0 0 1 0 0 0 1
CDH19-related disorder 0 2 0 1 0 0 0 1
CDK20-related disorder 0 3 0 1 0 0 0 1
CDK5-related disorder 0 0 0 1 0 0 0 1
CDK6-related disorder 0 2 0 1 0 0 0 1
CEL-related disorder 0 2 0 0 0 0 1 1
CELSR3-related disorder 0 1 0 1 0 0 0 1
CEP170B-related disorder 0 3 0 1 0 0 0 1
CEP55-related disorder 0 9 0 0 1 0 0 1
CEP57-related disorder 0 1 0 1 0 0 0 1
CEP63-related disorder 0 4 0 0 1 0 0 1
CEP76-related disorder 0 0 0 1 0 0 0 1
CEP89-related disorder 0 3 0 1 0 0 0 1
CEREBRAL CAVERNOUS MALFORMATIONS 4, SOMATIC 0 2 0 1 0 0 0 1
CERS3-related disorder 0 3 0 1 0 0 0 1
CERT1-related disorder 0 4 0 1 0 0 0 1
CFAP251-related disorder 0 5 0 1 0 0 0 1
CFAP53-related disorder 0 0 0 1 0 0 0 1
CFAP57-related disorder 0 1 0 1 0 0 0 1
CGNL1-related disorder 0 0 0 1 0 0 0 1
CHD1L-related disorder 0 6 0 1 0 0 0 1
CHEK2-related cancer risk 0 0 0 1 0 0 0 1
CHKB-related disorder 0 4 0 0 1 0 0 1
CHM-related disorder 0 7 0 1 0 0 0 1
CHN1-related disorder 0 1 0 1 0 0 0 1
CHRDL1-related disorder 0 2 0 1 0 0 0 1
CHRM2-related disorder 0 0 0 1 0 0 0 1
CHRM3-related disorder 0 2 0 1 0 0 0 1
CHRNA3-related disorder 0 1 0 1 0 0 1 1
CHRNA7-related disorder 0 2 0 1 0 0 0 1
CHST14-related disorder 0 2 0 0 1 0 0 1
CHST8-related disorder 0 1 0 0 1 0 0 1
CHUK-related disorder 0 4 0 0 1 0 0 1
CIB1-related disorder 0 7 0 1 0 0 0 1
CIROP-related disorder 0 0 0 0 1 0 0 1
CLCN3-related disorder 0 1 0 0 1 0 0 1
CLCN6-related disorder 0 2 0 0 1 0 0 1
CLDN19-related disorder 0 5 0 0 1 0 0 1
CLEC7A-related disorder 0 1 0 1 0 0 0 1
CLIP1-related disorder 0 1 0 1 0 0 0 1
CLMP-related disorder 0 1 0 1 0 0 0 1
CLPTM1-related disorder 0 4 0 1 0 0 0 1
CLU-related disorder 0 1 0 1 0 0 0 1
CNKSR1-related disorder 0 0 0 1 0 0 0 1
CNNM2-related disorder 0 4 0 1 0 0 0 1
CNOT9-associated neurodevelopmental disorder 0 1 0 1 0 0 0 1
COA8-related disorder 0 8 0 1 0 0 0 1
COG4-Related Disorders 0 0 0 1 0 0 0 1
COGNITIVE IMPAIRMENT WITHOUT CEREBELLAR ATAXIA 0 1 0 1 0 0 0 1
COL25A1-related disorder 0 3 0 1 0 0 0 1
COLEC11-related disorder 0 4 0 0 1 0 0 1
COMT-related disorder 0 1 0 1 0 0 0 1
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIf, MODIFIER OF 0 0 0 0 0 0 1 1
COPA-related disorder 0 4 0 1 0 0 0 1
COX4I1-related disorder 0 1 0 1 0 0 0 1
COX6A1-related disorder 0 2 0 1 0 0 0 1
COX6A2-related disorder 0 0 0 1 1 0 0 1
COX7B-related disorder 0 0 0 1 0 0 0 1
COX8A-related disorder 0 1 0 1 0 0 0 1
CPB1-related disorder 0 4 0 1 0 0 0 1
CPLX1-related disorder 0 3 0 1 0 0 0 1
CPOX-related disorder 0 7 0 0 0 0 1 1
CPT1A POLYMORPHISM 0 0 0 0 0 0 1 1
CRH-related disorder 0 0 0 1 0 0 0 1
CRIPTO-related disorder 0 0 0 1 0 0 0 1
CRISPLD2-related disorder 0 8 0 1 0 0 0 1
CRP-related disorder 0 0 0 0 1 0 0 1
CRTAP-related disorder 0 4 0 0 1 0 0 1
CRY1-related disorder 0 1 0 1 0 0 0 1
CRYAA-related disorder 0 3 0 0 1 0 0 1
CRYBB2-related disorder 0 1 0 0 1 0 0 1
CRYBB3-related disorder 0 0 0 0 1 0 0 1
CRYGA-related disorder 0 0 0 1 0 0 0 1
CSF1R-Related Adult-Onset Leukoencephalopathy 0 0 0 0 0 0 1 1
CSNK2A1-related neurodevelopmental syndrome 0 0 0 1 0 0 0 1
CSNK2B-related disorder 0 1 0 1 0 0 0 1
CSRP3-related disorder 0 7 0 1 0 0 0 1
CSTB-related disorder 0 0 0 0 1 0 0 1
CTNNA1-associated FEVR 0 0 0 1 0 0 0 1
CTNNB1-related syndromic intellectual disability 0 0 0 0 0 0 1 1
CTNND1-related disorder 0 5 0 1 0 0 0 1
CTRC-related disorder 0 2 0 0 1 0 0 1
CTSA-related disorder 0 2 0 1 0 0 0 1
CTSB-related disorder 0 9 0 1 0 0 0 1
CTSK-related disorder 0 0 0 1 0 0 0 1
CWF19L1-related disorder 0 6 0 1 0 0 0 1
CX3CR1-related disorder 0 1 0 0 1 0 0 1
CXCL12-related disorder 0 1 0 1 0 0 0 1
CXCR4-related disorder 0 0 0 1 0 0 0 1
CYBB-related disorder 0 3 0 0 1 0 0 1
CYFIP2-related neurodevelopmental disorders 0 0 0 0 0 0 1 1
CYP19A1-related disorder 0 4 0 1 0 0 0 1
CYP27B1-related disorder 0 7 0 0 1 0 0 1
CYP2B6-related disorder 0 1 0 1 0 0 0 1
CYP2C19: decreased function 0 0 0 0 0 1 0 1
CYP2C19: increased function 0 0 0 0 0 1 0 1
CYP4F2-related disorder 0 1 0 1 0 0 0 1
Ca/Tu ALLOANTIGEN POLYMORPHISM 0 0 0 1 0 0 0 1
Cardiomyopathy, mitochondrial 0 1 0 0 0 0 1 1
Cataract 17 0 0 0 1 0 0 0 1
Cataract 9, autosomal recessive 0 0 0 1 0 0 0 1
Cationic Amino Acid Transporter 2 Deficiency 0 0 0 0 1 1 1 1
Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Congenital multicore myopathy with external ophthalmoplegia 0 1 0 1 0 0 0 1
Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 2 0 0 0 0 0 0 1 1
Cerebral atrophy 0 0 0 1 0 0 0 1
Cerebral calcification; Intracranial hemorrhage 0 0 0 1 0 0 0 1
Cerebral hypomyelination 0 0 0 0 0 0 1 1
Cerebro-facio-thoracic dysplasia 0 0 0 1 0 0 0 1
Cerebrofacial Vascular Metameric Syndrome (CVMS) 0 2 0 1 0 0 0 1
Charcot-Marie-Tooth disease, type 1a, autosomal recessive 0 0 0 0 0 0 1 1
Charcot-Marie-Tooth, Intermediate 0 0 0 1 0 0 0 1
Charcot-Marie-Tooth-like disease 0 0 0 0 0 0 1 1
Childhood ganglioglioma 0 0 0 0 0 0 1 1
Childhood onset hereditary spastic paraplegia 0 0 0 1 0 0 0 1
Cholestatic liver disease 0 0 0 1 0 0 0 1
Chronic and progressive ataxia 0 0 0 1 0 0 0 1
Chronic osteomyelitis 0 0 0 0 0 1 0 1
Cirrhosis, cryptogenic 0 2 0 0 1 0 0 1
Classical galactosemia, homozygous Duarte-type 0 0 0 0 0 1 0 1
Clonal Cytopenia of Undetermined Significance 0 0 0 1 0 0 0 1
Collagen IV-related nephropathies 0 0 0 1 0 0 0 1
Collagen type 1 disorder 0 0 0 1 0 0 0 1
Colon cancer, susceptibility to 0 0 0 0 0 0 1 1
Colorectal cancer, early onset 0 0 0 0 1 0 0 1
Colorectal cancer, protection against 0 0 0 0 0 1 0 1
Colorectal cancer, sporadic, susceptibility to 0 0 0 0 0 0 1 1
Common craniosynostosis syndromes 0 7 0 0 0 0 1 1
Complement component 4, partial deficiency of, due to dysfunctional c1 inhibitor 0 0 0 0 0 0 1 1
Complement-mediated glomerular disease 0 0 0 0 0 0 1 1
Congenital Erythrocytosis 0 0 0 1 0 0 0 1
Congenital Muscular Dystrophy, LAMA2-related 0 1 0 1 0 0 0 1
Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies 0 0 0 1 0 0 0 1
Congenital myopathy with cores 0 0 0 0 0 0 1 1
Congenital nuclear cataract 0 0 0 0 0 0 1 1
Congenital sensorineural hearing impairment 0 6 0 1 0 0 0 1
Congenital sucrose-isomaltase deficiency 0 0 0 1 0 0 0 1
Connective and Soft Tissue Disorder 0 0 0 1 0 0 0 1
Connective tissue dysplasia 0 1 0 1 0 0 0 1
Conotruncal defect 0 0 0 0 0 0 1 1
Conspicuously happy disposition 0 0 0 0 0 0 1 1
Continuous spike and waves during slow sleep 0 2 0 0 1 0 0 1
Coproporphyria 0 1 0 1 0 0 1 1
Coronary artery disease/myocardial infarction 0 0 0 0 0 0 1 1
Coronary sclerosis, medial, of infancy 0 0 0 1 0 0 0 1
Cortical tubers 0 0 0 0 0 0 1 1
Cough 0 0 0 0 1 0 0 1
Crohn’s Disease 0 0 1 0 0 0 1 1
Cromer blood group system 0 0 0 0 0 1 0 1
Cystic Leukoencephalopathy 0 0 0 0 0 0 1 1
Cystic epithelial invagination containing papillae lined by columnar epithelium 0 0 0 0 0 0 1 1
D-6618 0 0 0 1 0 0 0 1
DAB1-related disorder 0 1 0 1 0 0 0 1
DCAF8-related disorder 0 3 0 0 1 0 0 1
DCC-related disorder 0 6 0 0 1 0 0 1
DDHD1-related disorder 0 3 0 0 1 0 0 1
DDX11-related condition 0 0 0 1 0 0 0 1
DDX3X-related X-linked intellectual disability 0 0 0 1 0 0 1 1
DDX54-related disorder 0 1 0 1 0 0 0 1
DDX6-related disorder 0 0 0 1 0 0 0 1
DECR1-related disorder 0 1 0 1 0 0 0 1
DEF6-related disorder 0 1 0 0 1 0 0 1
DEJERINE-SOTTAS SYNDROME, AUTOSOMAL DOMINANT 0 4 0 0 0 0 1 1
DENND5B-related neurodevelopmental disorder 0 0 0 1 0 0 0 1
DES-related desminopathy 0 0 0 1 0 0 0 1
DHDDS-related disorder 0 1 0 0 1 0 0 1
DHFR-related disorder 0 1 0 1 0 0 0 1
DHH-related disorder 0 0 0 1 0 0 0 1
DIABETES MELLITUS, TYPE II, DIGENIC 0 0 0 0 0 0 1 1
DIABLO-related disorder 0 6 0 1 0 0 0 1
DIEGO BLOOD GROUP ANTIGEN 0 0 0 0 0 0 1 1
DIP2C-associated disorder 0 0 0 0 0 0 1 1
DLAT-related disorder 0 3 0 1 0 0 0 1
DLK1-related disorder 0 3 0 1 0 0 0 1
DLX5-related disorder 0 1 0 1 0 0 0 1
DMGDH-related disorder 0 2 0 1 0 0 0 1
DMPK-related disorder 0 1 0 0 1 0 0 1
DMRT2-related disorder 0 5 0 1 0 0 0 1
DMXL1-related disorder 0 17 0 1 0 0 0 1
DNAAF5-related disorder 0 5 0 1 0 0 0 1
DNAJC12-related disorder 0 4 0 1 0 0 0 1
DNAJC17-related disorder 0 7 0 1 0 0 0 1
DNAJC3-related disorder 0 4 0 1 0 0 0 1
DNAJC5-related disorder 0 2 0 0 1 0 0 1
DNM1L-related mitochondrial disorders 0 0 0 1 0 0 0 1
DOCK4-related disorder 0 0 0 1 0 0 0 1
DOHH related neurodevelopmental disorder 0 0 0 0 0 0 1 1
DPM1-related disorder 0 4 0 1 0 0 0 1
DPM3-related disorder 0 0 0 1 0 0 0 1
DRD2-associated Dystonia 0 0 0 0 1 0 0 1
DROSHA-related disorder 0 11 0 1 0 0 0 1
DSE-related disorder 0 7 0 1 0 0 0 1
DSP-related cardiomyopathy 0 0 0 1 0 0 0 1
DUOXA2-related disorder 0 3 0 0 0 0 1 1
DYM-Related Skeletal Dysplasia Syndrome 0 0 0 0 0 0 1 1
DYNC1H1-related neurological disorders 0 0 0 1 0 0 1 1
DYNLT2B-related disorder 0 2 0 1 0 0 0 1
Deafness, autosomal dominant, with peripheral neuropathy 0 0 0 0 0 0 1 1
Deafness, digenic, GJB2/GJB3 0 1 0 0 0 0 1 1
Deafness, mitochondrial, modifier of 0 0 0 0 0 0 1 1
Deafness, with smith-magenis syndrome 0 0 0 0 0 0 1 1
Deep venous thrombosis, protection against 0 0 0 0 0 1 0 1
Delayed gross motor development 0 2 0 1 0 0 0 1
Delayed gross motor development; Mild expressive language delay 0 0 0 1 0 0 1 1
Delayed skeletal maturation 0 0 0 0 0 0 1 1
Delayed speech and language development 0 0 0 1 0 1 1 1
Delayed speech and language development; Pes cavus; Tip-toe gait; limited range of motion of the upper ankle 0 0 0 0 1 0 0 1
Deleterious RAD51D Gene Mutation 0 0 0 0 0 0 1 1
Developmental regression; Relative macrocephaly; Severe muscular hypotonia 0 0 0 0 0 0 1 1
Dilated cardiomyopathy 1EE; Hypertrophic cardiomyopathy 14; Atrial septal defect 3; Sick sinus syndrome 3, susceptibility to 0 8 0 0 1 0 0 1
Dilated cardiomyopathy with left ventricular noncompaction 0 1 0 0 1 0 0 1
Disease of glomerular basement membrane 0 1 0 0 0 0 1 1
Disorders of GNAS Inactivation 0 1 0 1 0 0 0 1
Disrupted sleep-wake cycle with developmental delay and learning difficulty 0 0 0 1 0 0 0 1
Distal Renal Tubular Acidosis, Recessive 0 0 0 0 0 0 1 1
Distal arthrogryposis and CNS involvement 0 0 0 0 0 0 1 1
Distal shortening of limbs 0 1 0 1 0 0 0 1
Dominant congenital non-syndromic sensorineural hearing loss 0 0 0 0 0 0 1 1
Dopamine agonists response 0 0 0 0 0 1 0 1
Down syndrome, susceptibility to 0 0 0 0 0 0 1 1
Duchenne or Becker muscular dystrophy 0 0 0 1 0 0 0 1
Duodenal stenosis 0 0 0 1 0 0 0 1
Dysarthria; Cerebellar atrophy; Gait ataxia 0 0 0 0 0 0 1 1
Dysarthria; Gait ataxia; Cerebral cortical atrophy; Spastic paraparesis 0 1 0 1 0 0 0 1
Dysmetria 0 0 0 0 1 0 0 1
Dystonia 1, torsion, late-onset 0 0 0 1 0 0 1 1
Dystonia, adult-onset 0 0 0 0 0 0 1 1
ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 1, MALE-RESTRICTED 0 0 0 1 0 0 0 1
EDAR-related disorder 0 1 0 1 0 0 0 1
EDC3-related disorder 0 0 0 1 0 0 0 1
EDN3-related disorder 0 3 0 1 0 0 0 1
EDNRA-related disorder 0 2 0 1 0 0 0 1
EED-related disorder 0 1 0 0 1 0 0 1
EEF1D-related disorder 0 5 0 0 1 0 0 1
EEG with focal epileptiform discharges 0 0 0 0 1 0 0 1
EFCAB5-related disorder 0 0 0 1 0 0 0 1
EFNB1-related disorder 0 0 0 1 0 0 0 1
EGR2-related disorder 0 0 0 0 1 0 0 1
EHBP1-related disorder 0 0 0 1 0 0 0 1
ELF4-related disorder 0 0 0 1 0 0 0 1
ELOVL1-related disorder 0 3 0 1 0 0 0 1
ELOVL5-related disorder 0 1 0 1 0 0 0 1
ELP4-related disorder 0 3 0 1 0 0 0 1
EMILIN1-related disorder 0 3 0 1 0 0 0 1
EMP2-related disorder 0 4 0 1 0 0 0 1
EMX2-related disorder 0 1 0 0 1 0 0 1
ENAM-related disorder 0 3 0 1 0 0 0 1
EOMES-related disorder 0 3 0 0 1 0 0 1
EPHA3-related disorder 0 3 0 1 0 0 0 1
ERF-related disorder 0 1 0 1 0 0 0 1
ERI1-related disorder 0 2 0 1 0 0 0 1
ERLIN1-related disorder 0 0 0 1 0 0 0 1
ERLIN2-related disorder 0 2 0 1 0 0 0 1
ESPL1-related disorder 0 3 0 1 0 0 0 1
ESRP1-related disorder 0 4 0 1 0 0 0 1
ESRRB-related disorder 0 4 0 1 0 0 0 1
ETFA-related disorder 0 2 0 0 1 0 0 1
EVC-associated disorder 0 0 0 1 0 0 0 1
EVI2A-related disorder 0 2 0 1 0 0 0 1
EXOC7-related disorder 0 1 0 1 0 0 0 1
EXOSC2-related disorder 0 2 0 1 0 0 0 1
EXOSC3-related disorder 0 5 0 1 0 0 0 1
EXOSC8-related disorder 0 2 0 1 0 0 0 1
EXOSC9-related disorder 0 6 0 1 0 0 0 1
EZH1-neurodevelopmental syndrome 0 2 0 1 0 0 0 1
EZH1-related disorder 0 0 0 0 0 0 1 1
Early onset Alzheimer disease with behavioral disturbance 0 0 0 0 0 0 1 1
Elevated basal serum calcitonin 0 0 0 1 1 0 0 1
Elevated circulating alkaline phosphatase concentration 0 0 0 0 0 0 1 1
Elevated circulating creatine kinase concentration; Distal muscle weakness; Fatty replacement of skeletal muscle 0 0 0 1 0 0 1 1
Emm-null phenotype 0 0 0 1 0 0 0 1
Encephalocele; Severe hydrocephalus 0 0 0 0 1 0 0 1
Encephalopathy due to GLUT1 deficiency; Epilepsy, idiopathic generalized, susceptibility to, 12 0 0 0 0 0 0 1 1
Endocrine-cerebro-osteodysplasia syndrome; Epilepsy, juvenile myoclonic, susceptibility to, 10 0 0 0 1 0 0 0 1
Enlarged kidney; Hyperechogenic kidneys; Multiple renal cysts; Anhydramnios 0 0 0 1 0 0 0 1
Epicanthus; Autistic behavior; Seizure; Abnormal facial shape; Moderate intellectual disability 0 0 0 1 0 0 0 1
Epidermolysis bullosa pruriginosa, autosomal recessive 0 4 0 1 0 0 0 1
Epilepsy, childhood absence, susceptibility to, 1 0 0 0 1 0 0 0 1
Epilepsy, idiopathic generalized, susceptibility to, 7 0 0 0 0 1 0 0 1
Epilepsy, progressive myoclonic, 3, with intracellular inclusions 0 0 0 1 0 0 0 1
Episodic coma 0 0 0 0 0 0 1 1
Erythrocytosis 0 0 0 1 0 0 0 1
Essential tremor, susceptibility to 0 0 0 0 0 0 1 1
Ewing sarcoma of soft tissue 0 0 0 0 1 0 0 1
Exertional myalgia, muscle stiffness and myoglobinuria 0 0 0 0 0 0 1 1
Exudative vitreoretinopathy 4, autosomal recessive 0 2 0 1 0 0 1 1
Ezetimibe response 0 0 0 0 0 1 0 1
F12 POLYMORPHISM 0 0 0 1 0 0 0 1
F2-related disorder 0 3 0 1 0 0 0 1
F8-related disorders 0 0 0 1 0 0 0 1
F9 POLYMORPHISM 0 1 0 1 0 0 0 1
FAAP24-related disorder 0 2 0 1 0 0 0 1
FACTOR VII-ACTIVATING PROTEASE MARBURG I POLYMORPHISM 0 0 0 1 0 0 0 1
FAM157B-related disorder 0 1 0 1 0 0 0 1
FAM20A-related disorder 0 3 0 1 0 0 0 1
FAM234B-related disorder 0 0 0 1 0 0 0 1
FAM83H-related disorder 0 3 0 1 0 0 0 1
FAM98C-related disorder 0 0 0 1 0 0 0 1
FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 2, SUSCEPTIBILITY TO 0 0 0 0 0 0 1 1
FAR1-related disorder 0 4 0 0 1 0 0 1
FAR1-related neurodevelopmental disorder 0 0 0 1 0 0 0 1
FATTY LIVER DISEASE, PROTECTION AGAINST 0 0 0 0 0 1 0 1
FBP1-related disorder 0 4 0 0 1 0 0 1
FBXL4-related disorder 0 7 0 0 1 0 0 1
FBXW11-related disorder 0 0 0 1 0 0 0 1
FBXW11-related neurodevelopmental, brain, eye, and digit anomalies 0 0 0 0 0 0 1 1
FDX2-related disorder 0 3 0 0 1 0 0 1
FEZF2-related disorder 0 1 0 1 0 0 0 1
FGF17-related disorder 0 0 0 1 0 0 0 1
FGF23-related disorder 0 0 0 1 0 0 0 1
FIBP-related disorder 0 1 0 1 0 0 0 1
FIBRINOGEN AARHUS 1 0 0 0 0 0 1 0 1
FIBRINOGEN ASAHI 0 0 0 0 0 1 0 1
FIBRINOGEN BALTIMORE 2 0 0 0 0 0 1 0 1
FIBRINOGEN BALTIMORE 3 0 0 0 0 0 1 0 1
FIBRINOGEN CANTERBURY 0 0 0 0 0 1 0 1
FIBRINOGEN CARACAS 2 0 0 0 0 0 1 0 1
FIBRINOGEN CHRISTCHURCH 2 0 0 0 0 0 1 0 1
FIBRINOGEN DETROIT 1 0 0 0 0 0 1 0 1
FIBRINOGEN HAIFA 1 0 0 0 0 0 1 0 1
FIBRINOGEN PARIS 1 0 0 0 0 0 1 0 1
FIBRINOGEN ROUEN 1 0 0 0 0 0 1 0 1
FIBRINOGEN TOKYO 2 0 0 0 0 0 1 0 1
FKRP-related muscular dystrophy-dystroglycanopathy 0 0 0 1 0 0 0 1
FLI1-related disorder 0 12 0 1 0 0 0 1
FLNA-related periventricular nodular heterotopia 0 0 0 0 0 0 1 1
FLRT3-related disorder 0 2 0 0 1 0 0 1
FLT3-related disorder 0 3 0 1 0 0 0 1
FNIP1-related disorder 0 0 0 1 1 0 0 1
FOCAL SEGMENTAL GLOMERULOSCLEROSIS 3 0 0 0 0 0 0 1 1
FOXF1-related disorder 0 6 0 0 1 0 0 1
FOXN1-related disorder 0 5 0 0 1 0 0 1
FRONTOTEMPORAL DEMENTIA WITHOUT AMYOTROPHIC LATERAL SCLEROSIS 6, WITH NEUROFIBRILLARY TANGLES 0 0 0 1 0 0 0 1
FRONTOTEMPORAL LOBAR DEGENERATION WITH UBIQUITIN-POSITIVE INCLUSIONS, SUSCEPTIBILITY TO 0 0 0 0 0 0 1 1
FSHB-related disorder 0 0 0 1 0 0 0 1
FTCD-AS1-related disorder 0 0 0 0 1 0 0 1
FTO-related disorder 0 0 0 1 0 0 0 1
FTSJ1-related disorder 0 4 0 1 0 0 0 1
FUZ-related disorder 0 0 0 1 0 0 0 1
FZD4-related disorder 0 6 0 0 1 0 0 1
Factor B fast/slow polymorphism 0 1 0 1 0 0 0 1
Factor V Hong Kong 0 0 0 0 0 0 1 1
Factor VII Padua 0 0 0 0 0 1 0 1
Familial Monogenic Diabetes (Maturity Onset Diabetes Of The Young 4)/Neonatal Diabetes Mellitus 0 0 0 1 0 0 1 1
Familial cancer of breast; Estrogen resistance syndrome; Myocardial infarction, susceptibility to; Migraine with or without aura, susceptibility to, 1 0 1 0 1 0 0 0 1
Familial hematuria 0 0 0 0 0 0 1 1
Familial hypobetalipoproteinemia 0 3 0 1 0 0 0 1
Family history of cardiomyopathy 0 0 0 1 0 0 0 1
Family history of sudden cardiac death 0 1 0 1 0 0 0 1
Febrile seizures, familial, 2 0 0 0 0 0 0 1 1
Ferrodoxin Reductase (FDXR) Deficiency 0 0 0 1 0 0 0 1
Fetal hemoglobin quantitative trait locus 5 0 0 0 0 0 0 1 1
Fibrinogen Milano XII, digenic 0 0 0 0 0 0 1 1
Fibrotic kidney disease 0 0 0 0 0 0 1 1
Focal-onset seizure; Severe global developmental delay; Epileptic encephalopathy 0 0 0 1 0 0 1 1
Frontotemporal dementia and/or amyotrophic lateral sclerosis 4; Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8; Autoinflammation with arthritis and vasculitis 0 1 0 1 0 0 0 1
Fumarylacetoacetase pseudodeficiency 0 0 0 0 0 1 1 1
Fundus albipunctatus, autosomal recessive 0 6 0 0 0 0 1 1
G6PC3-related disorder 0 2 0 0 1 0 0 1
G6PD A+ 0 0 0 0 0 1 0 1
G6PD AGRIGENTO 0 0 0 0 0 1 0 1
G6PD ANAHEIM 0 0 0 0 0 1 0 1
G6PD ANANT 0 0 0 0 0 1 0 1
G6PD ASAHI 0 0 0 0 0 1 0 1
G6PD AURES 0 0 0 0 0 1 0 1
G6PD CAGLIARI 0 0 0 0 0 1 0 1
G6PD CANTON 0 0 0 0 0 1 0 1
G6PD CHATHAM 0 0 0 0 0 1 0 1
G6PD COSENZA 0 0 0 0 0 1 0 1
G6PD DHON 0 0 0 0 0 1 0 1
G6PD GAOHE 0 0 0 0 0 1 0 1
G6PD GASTONIA 0 0 0 0 0 1 0 1
G6PD GIFU 0 0 0 0 0 1 0 1
G6PD GUADALAJARA 0 0 0 0 0 1 0 1
G6PD ILESHA 0 0 0 0 0 1 0 1
G6PD IOWA 0 0 0 0 0 1 0 1
G6PD IOWA CITY 0 0 0 0 0 1 0 1
G6PD JAMMU 0 0 0 0 0 1 0 1
G6PD KAIPING 0 0 0 0 0 1 0 1
G6PD KALYAN 0 0 0 0 0 1 0 1
G6PD KERALA 0 0 0 0 0 1 0 1
G6PD KERALA-KALYAN 0 0 0 0 0 1 0 1
G6PD MAHIDOL 0 0 0 0 0 1 0 1
G6PD MAHIDOL-LIKE 0 0 0 0 0 1 0 1
G6PD MALAGA 0 0 0 0 0 1 0 1
G6PD MARION 0 0 0 0 0 1 0 1
G6PD MEDITERRANEAN 0 0 0 0 0 1 0 1
G6PD MINNESOTA 0 0 0 0 0 1 0 1
G6PD MODENA 0 0 0 0 0 1 0 1
G6PD NAMORU 0 0 0 0 0 1 0 1
G6PD NASHVILLE 0 0 0 0 0 1 0 1
G6PD ORISSA 0 0 0 0 0 1 0 1
G6PD PAWNEE 0 0 0 0 0 1 0 1
G6PD PETRICH-LIKE 0 0 0 0 0 1 0 1
G6PD PORTICI 0 0 0 0 0 1 0 1
G6PD PUERTO LIMON 0 0 0 0 0 1 0 1
G6PD QUING YUAN 0 0 0 0 0 1 0 1
G6PD SANTIAGO DE CUBA 0 0 0 0 0 1 0 1
G6PD SAPPORO-LIKE 0 0 0 0 0 1 0 1
G6PD SASSARI 0 0 0 0 0 1 0 1
G6PD SEATTLE-LIKE 0 0 0 0 0 1 0 1
G6PD SPRINGFIELD 0 0 0 0 0 1 0 1
G6PD SUNDERLAND 0 0 0 0 0 1 0 1
G6PD TAIWAN-HAKKA 0 0 0 0 0 1 0 1
G6PD TAIWAN-HAKKA 2 0 0 0 0 0 1 0 1
G6PD VIANGCHAN 0 0 0 0 0 1 0 1
G6PD WALTER REED 0 0 0 0 0 1 0 1
GABBR1-related neurodevelopmental disorder 0 0 0 1 0 0 0 1
GABRA4-associated disorder 0 0 0 0 0 0 1 1
GABRA5-related disorder 0 0 0 1 0 0 0 1
GABRA6-related disorder 0 2 0 1 0 0 0 1
GAD1-related disorder 0 3 0 0 1 0 0 1
GAL-related disorder 0 1 0 1 0 0 0 1
GALACTOSIALIDOSIS, LATE INFANTILE 0 0 0 1 0 0 0 1
GALK1-related disorder 0 1 0 0 0 0 1 1
GALNTL5-related disorder 0 1 0 1 0 0 0 1
GALT POLYMORPHISM (DUARTE, D2) 0 0 0 1 1 1 1 1
GATB-related disorder 0 7 0 1 0 0 0 1
GATM-related disorder 0 2 0 1 1 0 0 1
GBA-related disorder 0 0 0 1 0 0 0 1
GBA1-related disorders 0 1 0 1 0 0 0 1
GCGR-related disorder 0 7 0 1 0 0 0 1
GDAP1-related disorder 0 3 0 1 0 0 0 1
GDF1-RELATED DISORDERS 0 0 0 1 0 0 0 1
GDF3-related disorder 0 2 0 0 1 0 1 1
GDF5-related disorder 0 9 0 1 0 0 0 1
GDF5OS-related condition 0 1 0 1 0 0 0 1
GDF9-related disorder 0 2 0 0 1 0 0 1
GET4 deficiency 0 0 0 0 0 0 1 1
GFI1B-related disorder 0 4 0 1 0 0 0 1
GGN-related disorder 0 1 0 1 0 0 0 1
GHR-related disorder 0 5 0 0 1 0 0 1
GHRHR-related disorder 0 8 0 1 0 0 0 1
GIGYF1-related disorder 0 8 0 1 0 0 0 1
GIGYF1-related neurodevelopmental disorder 0 0 0 1 0 1 1 1
GINS1-related disorder 0 2 0 1 0 0 1 1
GJA1-related disorder 0 3 0 0 0 0 1 1
GK-related disorder 0 4 0 1 0 0 0 1
GLAUCOMA 3, PRIMARY CONGENITAL, A, DIGENIC 0 0 0 0 0 0 1 1
GLI1-related disorder 0 14 0 1 0 0 0 1
GLRB-related disorder 0 0 0 0 1 0 0 1
GLRX5-related disorder 0 1 0 0 1 0 0 1
GLUD1-related disorder 0 2 0 1 0 0 0 1
GLUL-related disorder 0 2 0 0 0 0 1 1
GLYCTK-related disorder 0 6 0 0 1 0 0 1
GM2-GANGLIOSIDOSIS, CHRONIC 0 1 0 1 0 0 0 1
GNAL-related disorder 0 5 0 1 0 0 0 1
GNAS-associated disease 0 0 0 1 0 0 0 1
GNAT2-related disorder 0 0 0 1 0 0 0 1
GNMT-related disorder 0 2 0 1 0 0 0 1
GON4L-related disorder 0 0 0 1 0 0 0 1
GPC4-related disorder 0 2 0 0 1 0 0 1
GPD2-related disorder 0 0 0 1 0 0 0 1
GPNMB-related disorder 0 5 0 1 0 0 0 1
GPR88-related disorder 0 0 0 1 0 0 0 1
GPR89B-related condition 0 0 0 0 1 0 0 1
GPRASP2-related disorder 0 4 0 1 0 0 0 1
GPX4-related disorder 0 3 0 1 0 0 0 1
GRAMD1B-related disorder 0 0 0 1 0 0 0 1
GRHL2-related disorder 0 7 0 1 1 0 0 1
GRIA1-related disorder 0 6 0 1 0 0 0 1
GRIA2-related disorder 0 0 0 0 1 0 0 1
GRIA4-related disorder 0 5 0 1 0 0 0 1
GRIK2-related disorder 0 2 0 0 1 0 0 1
GRK1-related disorder 0 0 0 1 0 0 0 1
GSTZ1-related disorder 0 3 0 0 0 0 1 1
GTF3C3-related disorder 0 0 0 1 0 0 0 1
GTPBP2-related disorder 0 2 0 1 0 0 0 1
GYS1-related disorder 0 6 0 1 0 0 0 1
GZF1-related disorder 0 8 0 0 1 0 0 1
Gait ataxia; Hypoplasia of the frontal lobes; Delayed fine motor development; Severe global developmental delay 0 0 0 1 0 0 0 1
Gastrointestinal stromal tumor, familial 0 2 0 1 0 0 0 1
Gemcitabine response 0 0 0 0 0 1 0 1
Generalized myoclonic seizure 0 1 0 0 0 0 1 1
Generalized myoclonic seizure; Progressive neurologic deterioration; Inability to walk; Difficulty standing; Severe global developmental delay 0 1 0 1 0 0 0 1
Generalized-onset seizure 0 0 0 0 1 0 0 1
Gentamicin response 0 0 0 0 0 1 0 1
Gilbert syndrome, susceptibility to 0 0 0 0 0 0 1 1
Gillessen-Kaesbach-Nishimura dysplasia 0 0 0 0 0 0 1 1
Gingival bleeding; Impaired epinephrine-induced platelet aggregation; Impaired collagen-induced platelet aggregation; Impaired arachidonic acid-induced platelet aggregation; Impaired ristocetin-induced platelet aggregation; Impaired thrombin-induced platelet aggregation; Impaired thromboxane A2 agonist-induced platelet aggregation 0 0 0 1 0 1 1 1
Glaucoma 1, open angle, H 0 1 0 0 0 0 1 1
Glaucoma, early-onset, digenic 0 0 0 0 0 0 1 1
Glaucoma, primary open angle, juvenile-onset 0 0 0 0 0 0 1 1
Glipizide response 0 0 0 0 0 1 0 1
Global developmental delay with dysmorphic features, liver dysfunction, pruritus, and woolly hair 0 0 0 1 0 0 0 1
Global developmental delay; Abnormal cardiovascular system morphology; Abnormal facial shape; Brainstem dysplasia 0 0 0 0 0 0 1 1
Global developmental delay; Abnormal facial shape; Brain atrophy 0 0 0 1 0 0 0 1
Global developmental delay; Abnormal facial shape; Hyporeflexia; Neonatal hypotonia 0 0 0 0 0 0 1 1
Global developmental delay; Absent speech; Generalized hypotonia; Gastrostomy tube feeding in infancy; Decreased activity of mitochondrial complex I 0 0 0 1 0 0 0 1
Global developmental delay; Absent speech; Limb dystonia 0 0 0 1 0 0 0 1
Global developmental delay; Clinodactyly of the 5th finger; Abnormal brain morphology 0 0 0 1 0 0 0 1
Global developmental delay; Delayed speech and language development; Mental deterioration; Lower limb spasticity; Bilateral tonic-clonic seizure 0 0 0 0 0 0 1 1
Global developmental delay; EEG abnormality; Exaggerated startle response 0 0 0 0 0 0 1 1
Global developmental delay; Expressive language delay; Secondary microcephaly 0 1 0 1 0 1 1 1
Global developmental delay; Hyperammonemia 0 0 0 0 1 0 0 1
Global developmental delay; Light complexion; Early onset focal segmental glomerulosclerosis 0 0 0 1 0 0 0 1
Global developmental delay; Motor delay; Seizure; High palate; Abnormal facial shape; Abnormal pinna morphology; Bilateral tonic-clonic seizure; Prominent forehead; Limb tremor 0 0 0 1 0 0 0 1
Global developmental delay; Myopathic facies; Hypotonia 0 0 0 1 0 0 0 1
Global developmental delay; Seizure; Atypical behavior; Macrocephaly; Hand tremor 0 0 0 0 1 0 0 1
Global developmental delay; Seizure; Decreased head circumference 0 0 0 1 0 0 0 1
Global developmental delay; Seizure; Hypotelorism; Short philtrum; Floppy infant 0 0 0 0 1 1 1 1
Global developmental delay; Seizure; Ventral septal defect; Delayed reflexes; Dysmorphism; Hypotonia 0 0 0 1 0 0 0 1
Global developmental delay; Typical Joubert syndrome MRI findings 0 0 0 1 0 0 0 1
Glutaric acidemia iic, late-onset 0 0 0 1 0 0 0 1
Glycosuria 0 0 0 1 0 0 0 1
Graft-versus-host disease, resistance to 0 0 0 0 0 1 0 1
Growth abnormality 0 0 0 0 1 1 1 1
H3-3A-related disorder 0 1 0 0 0 0 1 1
HAAO-related disorder 0 0 0 0 1 0 0 1
HABP2-related disorder 0 4 0 1 1 0 0 1
HACD1-related disorder 0 0 0 1 0 0 0 1
HAL-related disorder 0 6 0 1 0 0 0 1
HANAC-like syndrome 0 0 0 0 0 0 1 1
HAND1-related disorder 0 2 0 1 0 0 0 1
HAND2-related disorder 0 5 0 0 1 0 0 1
HARS1-related disorder 0 5 0 1 0 0 0 1
HARS1-related multi-system ataxia syndrome 0 0 0 0 0 0 1 1
HAX1-related disorder 0 2 0 1 0 0 0 1
HBB-related hemoglobinopathies 0 0 0 1 0 0 0 1
HCN2-related disorder 0 2 0 1 0 0 0 1
HDAC1-related disorder 0 1 0 1 0 0 0 1
HDAC6-related disorder 0 5 0 1 0 0 0 1
HDLBP-related disorder 0 11 0 1 0 0 0 1
HELQ-related disorder 0 2 0 1 0 0 0 1
HEMOGLOBIN A(2) BABINGA 0 0 0 0 0 1 0 1
HEMOGLOBIN A(2) YIALOUSA 0 0 0 0 0 1 0 1
HEMOGLOBIN ABRAHAM LINCOLN 0 0 0 0 0 1 0 1
HEMOGLOBIN ABRUZZO 0 0 0 0 0 1 0 1
HEMOGLOBIN ADANA 0 0 0 0 0 1 0 1
HEMOGLOBIN AGENOGI 0 0 0 0 0 1 0 1
HEMOGLOBIN AGRINIO 0 0 0 0 0 1 0 1
HEMOGLOBIN ALABAMA 0 0 0 0 0 1 0 1
HEMOGLOBIN ALESHA 0 0 0 0 0 1 0 1
HEMOGLOBIN ANDREW-MINNEAPOLIS 0 0 0 0 0 1 0 1
HEMOGLOBIN ARYA 0 0 0 0 0 1 0 1
HEMOGLOBIN ASABARA 0 0 0 0 0 1 0 1
HEMOGLOBIN ATHENS-GEORGIA 0 0 0 0 0 1 0 1
HEMOGLOBIN AUBAGNE 0 0 0 0 0 1 0 1
HEMOGLOBIN BEIRUT 0 0 0 0 0 1 0 1
HEMOGLOBIN BEOGRAD 0 0 0 0 0 1 0 1
HEMOGLOBIN BETHESDA 0 0 0 0 0 1 0 1
HEMOGLOBIN BIRMINGHAM (USA) 0 0 0 0 0 1 0 1
HEMOGLOBIN BOYLE HEIGHTS 0 0 0 0 0 1 0 1
HEMOGLOBIN BRESCIA 0 0 0 0 0 1 0 1
HEMOGLOBIN BRISTOL 0 0 0 0 0 1 0 1
HEMOGLOBIN BROUSSAIS 0 0 0 0 0 1 0 1
HEMOGLOBIN BUFFALO 0 0 0 0 0 1 0 1
HEMOGLOBIN BUGINESE-X 0 0 0 0 0 1 0 1
HEMOGLOBIN BUNBURY 0 0 0 0 0 1 0 1
HEMOGLOBIN C 0 0 0 1 0 0 0 1
HEMOGLOBIN CAMDEN 0 0 0 0 0 1 0 1
HEMOGLOBIN CAMPINAS 0 0 0 0 0 1 0 1
HEMOGLOBIN CARIBBEAN 0 0 0 0 0 1 0 1
HEMOGLOBIN CHAD 0 0 0 0 0 1 0 1
HEMOGLOBIN CHAROLLES 0 0 0 0 0 1 0 1
HEMOGLOBIN CHESAPEAKE 0 0 0 0 0 1 0 1
HEMOGLOBIN CHEVERLY 0 0 0 0 0 1 0 1
HEMOGLOBIN CHIAPAS 0 0 0 0 0 1 0 1
HEMOGLOBIN CHIBA 0 0 0 0 0 1 0 1
HEMOGLOBIN CHICO 0 0 0 0 0 1 0 1
HEMOGLOBIN CITY OF HOPE 0 0 0 0 0 1 0 1
HEMOGLOBIN CLINICO-MADRID 0 0 0 0 0 1 0 1
HEMOGLOBIN COCODY 0 0 0 0 0 1 0 1
HEMOGLOBIN COLIMA 0 0 0 0 0 1 0 1
HEMOGLOBIN CRETE 0 0 0 0 0 1 0 1
HEMOGLOBIN D (CAMPERDOWN) 0 0 0 0 0 1 0 1
HEMOGLOBIN D (GRANADA) 0 0 0 0 0 1 0 1
HEMOGLOBIN D (IRAN) 0 0 0 0 0 1 0 1
HEMOGLOBIN D (OULED RABAH) 0 0 0 0 0 1 0 1
HEMOGLOBIN DARTMOUTH 0 0 0 0 0 1 0 1
HEMOGLOBIN DEACONESS 0 0 0 0 0 1 0 1
HEMOGLOBIN DEER LODGE 0 0 0 0 0 1 0 1
HEMOGLOBIN DENVER 0 0 0 0 0 1 0 1
HEMOGLOBIN DETROIT 0 0 0 0 0 1 0 1
HEMOGLOBIN DRENTHE 0 0 0 0 0 1 0 1
HEMOGLOBIN DURHAM-N.C. 0 0 0 0 0 1 0 1
HEMOGLOBIN E (SASKATOON) 0 0 0 0 0 1 0 1
HEMOGLOBIN EGYPT 0 0 0 0 0 1 0 1
HEMOGLOBIN EVANS 0 0 0 0 0 1 0 1
HEMOGLOBIN F (AUSTELL) 0 0 0 0 0 1 0 1
HEMOGLOBIN F (BROOKLYN) 0 0 0 0 0 1 0 1
HEMOGLOBIN F (EMIRATES) 0 0 0 0 0 1 0 1
HEMOGLOBIN F (MELBOURNE) 0 0 0 0 0 1 0 1
HEMOGLOBIN F (SARDINIA) 0 0 0 0 0 1 0 1
HEMOGLOBIN FUKUYAMA 0 0 0 0 0 1 0 1
HEMOGLOBIN G (COPENHAGEN) 0 0 0 0 0 1 0 1
HEMOGLOBIN G (COUSHATTA) 0 0 0 0 0 1 0 1
HEMOGLOBIN G (FERRARA) 0 0 0 0 0 1 0 1
HEMOGLOBIN G (GALVESTON) 0 0 0 0 0 1 0 1
HEMOGLOBIN G (HSIN-CHU) 0 0 0 0 0 1 0 1
HEMOGLOBIN G (NORFOLK) 0 0 0 0 0 1 0 1
HEMOGLOBIN G (PEST) 0 0 0 0 0 1 0 1
HEMOGLOBIN G (PORT ARTHUR) 0 0 0 0 0 1 0 1
HEMOGLOBIN G (SAN JOSE) 0 0 0 0 0 1 0 1
HEMOGLOBIN G (SASKATOON) 0 0 0 0 0 1 0 1
HEMOGLOBIN G (TAEGU) 0 0 0 0 0 1 0 1
HEMOGLOBIN G (TAICHUNG) 0 0 0 0 0 1 0 1
HEMOGLOBIN G (TAIPEI) 0 0 0 0 0 1 0 1
HEMOGLOBIN G (TEXAS) 0 0 0 0 0 1 0 1
HEMOGLOBIN GRANGE-BLANCHE 0 0 0 0 0 1 0 1
HEMOGLOBIN HAMADAN 0 0 0 0 0 1 0 1
HEMOGLOBIN HAMILTON 0 0 0 0 0 1 0 1
HEMOGLOBIN HAMMERSMITH 0 0 0 0 0 1 0 1
HEMOGLOBIN HANDSWORTH 0 0 0 0 0 1 0 1
HEMOGLOBIN HASHARON 0 0 0 0 0 1 0 1
HEMOGLOBIN HEKINAN 0 0 0 0 0 1 0 1
HEMOGLOBIN HELSINKI 0 0 0 0 0 1 0 1
HEMOGLOBIN HIJIYAMA 0 0 0 0 0 1 0 1
HEMOGLOBIN HIKARI 0 0 0 0 0 1 0 1
HEMOGLOBIN HINSDALE 0 0 0 0 0 1 0 1
HEMOGLOBIN HINWIL 0 0 0 0 0 1 0 1
HEMOGLOBIN HOFU 0 0 0 0 0 1 0 1
HEMOGLOBIN HOPKINS 1 0 0 0 0 0 1 0 1
HEMOGLOBIN HOPKINS 2 0 0 0 0 0 1 0 1
HEMOGLOBIN HOWICK 0 0 0 0 0 1 0 1
HEMOGLOBIN I (INTERLAKEN) 0 0 0 0 0 1 0 1
HEMOGLOBIN ICARIA 0 0 0 0 0 1 0 1
HEMOGLOBIN INKSTER 0 0 0 0 0 1 0 1
HEMOGLOBIN J 0 0 0 0 0 1 0 1
HEMOGLOBIN J (BALTIMORE) 0 0 0 0 0 1 0 1
HEMOGLOBIN J (BIRMINGHAM) 0 0 0 0 0 1 0 1
HEMOGLOBIN J (BROUSSAIS) 0 0 0 0 0 1 0 1
HEMOGLOBIN J (GUANTANAMO) 0 0 0 0 0 1 0 1
HEMOGLOBIN J (IRAN) 0 0 0 0 0 1 0 1
HEMOGLOBIN J (LOME) 0 0 0 0 0 1 0 1
HEMOGLOBIN J (MEERUT) 0 0 0 0 0 1 0 1
HEMOGLOBIN J (MEXICO) 0 0 0 0 0 1 0 1
HEMOGLOBIN J (NORFOLK) 0 0 0 0 0 1 0 1
HEMOGLOBIN J (OXFORD) 0 0 0 0 0 1 0 1
HEMOGLOBIN J (PARIS 2) 0 0 0 0 0 1 0 1
HEMOGLOBIN J (RAJAPPEN) 0 0 0 0 0 1 0 1
HEMOGLOBIN J (SARDEGNA) 0 0 0 0 0 1 0 1
HEMOGLOBIN J (TORONTO) 0 0 0 0 0 1 0 1
HEMOGLOBIN JACKSON 0 0 0 0 0 1 0 1
HEMOGLOBIN JENKINS 0 0 0 0 0 1 0 1
HEMOGLOBIN JOHNSTOWN 0 0 0 0 0 1 0 1
HEMOGLOBIN K (IBADAN) 0 0 0 0 0 1 0 1
HEMOGLOBIN K (WOOLWICH) 0 0 0 0 0 1 0 1
HEMOGLOBIN KAGOSHIMA 0 0 0 0 0 1 0 1
HEMOGLOBIN KENITRA 0 0 0 0 0 1 0 1
HEMOGLOBIN KENWOOD 0 0 0 0 0 1 0 1
HEMOGLOBIN KHARTOUM 0 0 0 0 0 1 0 1
HEMOGLOBIN KNOSSOS 0 0 0 0 0 1 0 1
HEMOGLOBIN KOBE 0 0 0 0 0 1 0 1
HEMOGLOBIN KORLE-BU 0 0 0 0 0 1 0 1
HEMOGLOBIN KOYA DORA 0 0 0 0 0 1 0 1
HEMOGLOBIN KURASHIKI 0 0 0 0 0 1 0 1
HEMOGLOBIN KUROSAKI 0 0 0 0 0 1 0 1
HEMOGLOBIN L (FERRARA) 0 0 0 0 0 1 0 1
HEMOGLOBIN LA DESIRADE 0 0 0 0 0 1 0 1
HEMOGLOBIN LAS PALMAS 0 0 0 0 0 1 0 1
HEMOGLOBIN LEIDEN 0 0 0 0 0 1 0 1
HEMOGLOBIN LESLIE 0 0 0 0 0 1 0 1
HEMOGLOBIN LOMBARD 0 0 0 0 0 1 0 1
HEMOGLOBIN LUFKIN 0 0 0 0 0 1 0 1
HEMOGLOBIN M (AKITA) 0 0 0 0 0 1 0 1
HEMOGLOBIN M (HYDE PARK) 0 0 0 0 0 1 0 1
HEMOGLOBIN M (IWATE) 0 0 0 0 0 1 0 1
HEMOGLOBIN M (KANKAKEE) 0 0 0 0 0 1 0 1
HEMOGLOBIN M (MILWAUKEE 2) 0 0 0 0 0 1 0 1
HEMOGLOBIN M (OLDENBURG) 0 0 0 0 0 1 0 1
HEMOGLOBIN M (SASKATOON) 0 0 0 0 0 1 0 1
HEMOGLOBIN M (SENDAI) 0 0 0 0 0 1 0 1
HEMOGLOBIN MAHIDOL 0 0 0 0 0 1 0 1
HEMOGLOBIN MALAY 0 0 0 0 0 1 0 1
HEMOGLOBIN MANITOBA 0 0 0 0 0 1 0 1
HEMOGLOBIN MANUKAU 0 0 0 0 0 1 0 1
HEMOGLOBIN MAPUTO 0 0 0 0 0 1 0 1
HEMOGLOBIN MEXICO 0 0 0 0 0 1 0 1
HEMOGLOBIN MILLEDGEVILLE 0 0 0 0 0 1 0 1
HEMOGLOBIN MONTGOMERY 0 0 0 0 0 1 0 1
HEMOGLOBIN MOTOWN 0 0 0 0 0 1 0 1
HEMOGLOBIN MUSKEGON 0 0 0 0 0 1 0 1
HEMOGLOBIN N (BALTIMORE) 0 0 0 0 0 1 0 1
HEMOGLOBIN N (COSENZA) 0 0 0 0 0 1 0 1
HEMOGLOBIN N (JENKINS) 0 0 0 0 0 1 0 1
HEMOGLOBIN N (SEATTLE) 0 0 0 0 0 1 0 1
HEMOGLOBIN N (TIMONE) 0 0 0 0 0 1 0 1
HEMOGLOBIN NEW MEXICO 0 0 0 0 0 1 0 1
HEMOGLOBIN NIGERIA 0 0 0 0 0 1 0 1
HEMOGLOBIN NISHIK 0 0 0 0 0 1 0 1
HEMOGLOBIN NORFOLK 0 0 0 0 0 1 0 1
HEMOGLOBIN O (ARAB) 0 0 0 0 0 1 0 1
HEMOGLOBIN O (BUGINESE-X) 0 0 0 0 0 1 0 1
HEMOGLOBIN O (INDONESIA) 0 0 0 0 0 1 0 1
HEMOGLOBIN O (OLIVIERE) 0 0 0 0 0 1 0 1
HEMOGLOBIN O (PADOVA) 0 0 0 0 0 1 0 1
HEMOGLOBIN OCHO RIOS 0 0 0 0 0 1 0 1
HEMOGLOBIN OGI 0 0 0 0 0 1 0 1
HEMOGLOBIN OHIO 0 0 0 0 0 1 0 1
HEMOGLOBIN OKAYAMA 0 0 0 0 0 1 0 1
HEMOGLOBIN OLIVIERE 0 0 0 0 0 1 0 1
HEMOGLOBIN OLMSTED 0 0 0 0 0 1 0 1
HEMOGLOBIN OLYMPIA 0 0 0 0 0 1 0 1
HEMOGLOBIN OTTAWA 0 0 0 0 0 1 0 1
HEMOGLOBIN OWARI 0 0 0 0 0 1 0 1
HEMOGLOBIN PARK RIDGE 0 0 0 0 0 1 0 1
HEMOGLOBIN PERTH 0 0 0 0 0 1 0 1
HEMOGLOBIN PETAH TIKVA 0 0 0 0 0 1 0 1
HEMOGLOBIN PLASENCIA 0 0 0 0 0 1 0 1
HEMOGLOBIN PORTO ALEGRE 0 0 0 0 0 1 0 1
HEMOGLOBIN PYRGOS 0 0 0 0 0 1 0 1
HEMOGLOBIN Q 0 0 0 0 0 1 0 1
HEMOGLOBIN Q (INDIA) 0 0 0 0 0 1 0 1
HEMOGLOBIN Q (THAILAND) 0 0 0 0 0 1 0 1
HEMOGLOBIN QUEENS 0 0 0 0 0 1 0 1
HEMOGLOBIN RAINIER 0 0 0 0 0 1 0 1
HEMOGLOBIN RALEIGH 0 0 0 0 0 1 0 1
HEMOGLOBIN RAMPA 0 0 0 0 0 1 0 1
HEMOGLOBIN RICCARTON 0 0 0 0 0 1 0 1
HEMOGLOBIN ROCKFORD 0 0 0 0 0 1 0 1
HEMOGLOBIN RUSS 0 0 0 0 0 1 0 1
HEMOGLOBIN SAALE 0 0 0 0 0 1 0 1
HEMOGLOBIN SAGAMI 0 0 0 0 0 1 0 1
HEMOGLOBIN SAKI 0 0 0 0 0 1 0 1
HEMOGLOBIN SALLANCHES 0 0 0 0 0 1 0 1
HEMOGLOBIN SAN DIEGO 0 0 0 0 0 1 0 1
HEMOGLOBIN SANTA ANA 0 0 0 0 0 1 0 1
HEMOGLOBIN SANTA CLARA 0 0 0 0 0 1 0 1
HEMOGLOBIN SAVARIA 0 0 0 0 0 1 0 1
HEMOGLOBIN SEAL ROCK 0 0 0 0 0 1 0 1
HEMOGLOBIN SEALY 0 0 0 0 0 1 0 1
HEMOGLOBIN SHANGHAI 0 0 0 0 0 1 0 1
HEMOGLOBIN SHELBY 0 0 0 0 0 1 0 1
HEMOGLOBIN SHOWA-YAKUSHIJI 0 0 0 0 0 1 0 1
HEMOGLOBIN SIAM 0 0 0 0 0 1 0 1
HEMOGLOBIN SINAI 0 0 0 0 0 1 0 1
HEMOGLOBIN SINGAPORE 0 0 0 0 0 1 0 1
HEMOGLOBIN SOGN 0 0 0 0 0 1 0 1
HEMOGLOBIN SOUTH FLORIDA 0 0 0 0 0 1 0 1
HEMOGLOBIN ST. FRANCIS 0 0 0 0 0 1 0 1
HEMOGLOBIN ST. LUKE'S 0 0 0 0 0 1 0 1
HEMOGLOBIN STRASBOURG 0 0 0 0 0 1 0 1
HEMOGLOBIN SUMMER HILL 0 0 0 0 0 1 0 1
HEMOGLOBIN SUN PRAIRIE 0 0 0 0 0 1 0 1
HEMOGLOBIN SUNSHINE SETH 0 0 0 0 0 1 0 1
HEMOGLOBIN SWAN RIVER 0 0 0 0 0 1 0 1
HEMOGLOBIN SYRACUSE 0 0 0 0 0 1 0 1
HEMOGLOBIN TA-LI 0 0 0 0 0 1 0 1
HEMOGLOBIN TAGAWA I 0 0 0 0 0 1 0 1
HEMOGLOBIN TAK 0 0 0 0 0 1 0 1
HEMOGLOBIN TAMPA 0 0 0 0 0 1 0 1
HEMOGLOBIN TARRANT 0 0 0 0 0 1 0 1
HEMOGLOBIN TATRAS 0 0 0 0 0 1 0 1
HEMOGLOBIN TAYBE 0 0 0 0 0 1 0 1
HEMOGLOBIN TENDE 0 0 0 0 0 1 0 1
HEMOGLOBIN TOKUCHI 0 0 0 0 0 1 0 1
HEMOGLOBIN TSUKUMI 0 0 0 0 0 1 0 1
HEMOGLOBIN TUNIS-BIZERTE 0 0 0 0 0 1 0 1
HEMOGLOBIN TWIN PEAKS 0 0 0 0 0 1 0 1
HEMOGLOBIN TY GARD 0 0 0 0 0 1 0 1
HEMOGLOBIN TYNE 0 0 0 0 0 1 0 1
HEMOGLOBIN UBE-2 0 0 0 0 0 1 0 1
HEMOGLOBIN UBE-4 0 0 0 0 0 1 0 1
HEMOGLOBIN UPPSALA 0 0 0 0 0 1 0 1
HEMOGLOBIN VILLEJUIF 0 0 0 0 0 1 0 1
HEMOGLOBIN VOLGA 0 0 0 0 0 1 0 1
HEMOGLOBIN WASHTENAW 0 0 0 0 0 1 0 1
HEMOGLOBIN WAYNE 0 0 0 0 0 1 0 1
HEMOGLOBIN WESTMEAD 0 0 0 0 0 1 0 1
HEMOGLOBIN WINNIPEG 0 0 0 0 0 1 0 1
HEMOGLOBIN WOOD 0 0 0 0 0 1 0 1
HEMOGLOBIN YAOUNDE 0 0 0 0 0 1 0 1
HEMOGLOBIN YUSA 0 0 0 0 0 1 0 1
HEMOGLOBIN ZURICH 0 0 0 0 0 1 0 1
HEMOGLOBIN ZURICH ALBISRIEDEN 0 0 0 0 0 1 0 1
HEPHL1-related disorder 0 4 0 1 0 0 0 1
HESX1-Related Disorders 0 1 0 1 0 0 0 1
HEXOSAMINIDASE B, HEAT-LABILE POLYMORPHISM 0 0 0 1 0 1 0 1
HFE POLYMORPHISM 0 0 0 0 1 0 0 1
HFM1-related disorder 0 0 0 1 0 0 0 1
HHAT-related disorder 0 8 0 1 0 0 0 1
HIVEP3-related disorder 0 15 0 1 0 0 0 1
HK2-related disorder 0 0 0 1 0 0 0 1
HMGA2-related disorder 0 2 0 1 0 0 0 1
HMGCL-related disorder 0 3 0 0 1 0 0 1
HMGCS2-related disorder 0 0 0 1 1 0 0 1
HNMT-related disorder 0 0 0 1 0 0 0 1
HNRNPA1-related disorder 0 5 0 0 1 0 0 1
HNRNPA2B1-related disorder 0 8 0 1 0 0 0 1
HNRNPDL-related myopathy with protein aggregates and rimmed vacuoles 0 0 0 1 0 0 0 1
HOXA1-related disorder 0 1 0 1 0 0 0 1
HOXA10-related disorder 0 1 0 1 0 0 0 1
HOXA2-related disorder 0 0 0 0 1 0 0 1
HOXB13-Related Cancer Predisposition 0 0 0 1 0 1 0 1
HPD-related disorder 0 2 0 0 1 0 0 1
HPDL-related disorder 0 0 0 0 1 0 0 1
HPRT FUJIMI 0 0 0 0 0 1 0 1
HPRT YALE 0 0 0 0 0 1 0 1
HPRT1-related disorder 0 2 0 0 1 0 0 1
HS6ST1-related disorder 0 4 0 0 1 0 0 1
HSD11B1-related disorder 0 0 0 1 0 0 0 1
HSPA1L-related disorder 0 7 0 1 0 0 0 1
HSPD1-related disorder 0 2 0 1 1 0 0 1
HTRA1-related cerebral small vessel disease 0 2 0 1 0 0 0 1
HYAL2 Deficiency 0 0 0 1 0 0 0 1
HYAL2-related disorder 0 1 0 1 0 0 0 1
HYPERLIPOPROTEINEMIA, TYPE III, ASSOCIATED WITH APOE3(WASHINGTON) 0 0 0 1 0 0 0 1
HYPOGONADOTROPIC HYPOGONADISM 15 WITH OR WITHOUT ANOSMIA, SUSCEPTIBILITY TO 0 0 0 0 0 0 1 1
Hair morphology 1, hair thickness 0 0 0 0 0 1 0 1
Hb D-Los Angeles 0 0 0 0 0 1 0 1
Hearing loss and Retinal dystrophy 0 1 0 0 1 0 0 1
Hemochromatosis, type 1, modifier of 0 0 0 0 0 0 1 1
Hemochromatosis, type 2a, modifier of 0 0 0 0 0 0 1 1
Hemoglobin Quong Sze 0 0 0 0 0 1 0 1
Hemoglobin constant spring 0 0 0 0 0 1 0 1
Hemolytic uremic syndrome, atypical, susceptibility to, 7 0 0 1 0 0 0 0 1
Hemophagocytic lymphohistiocytosis, familial, 2, susceptibility to 0 0 0 0 1 0 1 1
Hemorrhage 0 2 0 0 1 0 0 1
Hepatitis B virus, resistance to 0 0 0 0 0 1 0 1
Hepatitis B virus, susceptibility to; Immunodeficiency 45 0 0 0 0 1 0 0 1
Hereditary cryohydrocytosis with reduced stomatin; Encephalopathy due to GLUT1 deficiency; Childhood onset GLUT1 deficiency syndrome 2; Epilepsy, idiopathic generalized, susceptibility to, 12 0 0 0 0 1 0 0 1
Hereditary spastic paraplegia 10; Myoclonus, intractable, neonatal; Amyotrophic lateral sclerosis, susceptibility to, 25 0 0 0 1 0 0 0 1
Heritable Thoracic Aortic Disease 0 2 0 0 0 1 0 1
Hexosaminidase B (Paris) 0 0 0 0 0 0 1 1
High density lipoprotein cholesterol level quantitative trait locus 10 0 0 0 0 0 1 0 1
High density lipoprotein cholesterol level quantitative trait locus 12 0 1 0 0 0 1 0 1
High myopia, early-onset 0 1 0 0 0 0 1 1
Hirschsprung disease, protection against 0 0 0 0 0 1 0 1
Homocystinuria, pyridoxine-responsive 0 6 0 0 0 0 1 1
Hyperammonemia 0 0 0 0 0 0 1 1
Hypertelorism; Abnormal digit morphology; Venous malformation; Dural ectasia 0 0 0 0 0 0 1 1
Hyperthyroidism, Congenital hypothyroidism 0 0 0 1 0 0 0 1
Hypoceruloplasminemia 0 0 0 0 0 0 1 1
Hypogonadotropic hypogonadism 18 with anosmia 0 0 0 0 0 0 1 1
IBA57-related disorder 0 4 0 1 0 0 0 1
IDH2-related disorder 0 3 0 1 1 0 0 1
IDH2-related mitochondrial disease 0 0 0 1 0 0 0 1
IDS-related disorder 0 6 0 0 1 0 0 1
IDUA PSEUDODEFICIENCY 0 0 0 0 0 0 1 1
IER3IP1-related disorder 0 1 0 0 1 0 0 1
IFNGR1-related disorder 0 3 0 1 0 0 0 1
IFT80-related skeletal disorders 0 1 0 0 0 0 1 1
IFT81-related disorder 0 4 0 1 0 0 0 1
IGF1-related disorder 0 3 0 1 0 0 0 1
IGF2-related disorder 0 5 0 1 0 0 0 1
IGG receptor I, phagocytic, familial deficiency of 0 0 0 0 0 0 1 1
IGLL1-related condition 0 0 0 0 1 0 1 1
IHH-Related Disorders 0 0 0 0 0 0 1 1
IKBKB-related disorder 0 1 0 1 0 0 0 1
IKBKG-related disorder 0 2 0 1 0 0 0 1
IL11RA-related disorder 0 4 0 1 0 0 0 1
IL1RN-related disorder 0 0 0 0 1 0 0 1
IL2RA-related disorder 0 0 0 0 1 0 0 1
IL31RA-related disorder 0 2 0 1 0 0 0 1
IL6ST-related disorder 0 21 0 0 1 0 0 1
IL7-related disorder 0 1 0 1 0 0 0 1
IMPDH2-related neurodevelopmental condition 0 0 0 0 0 0 1 1
IMPG1-related disorder 0 15 0 0 0 0 1 1
INFLTR8 0 0 0 0 0 0 1 1
INHA-related disorder 0 0 0 1 0 0 0 1
INS-IGF2-related disorder 0 1 0 0 1 0 0 1
INTELLECTUAL DEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND AUTISTIC FEATURES 0 1 0 1 0 0 0 1
IPO8 related Connective tissue disorder 0 1 0 1 0 0 0 1
IPO8-related aortopathy 0 1 0 1 0 0 0 1
IPO8-related disorder 0 0 0 1 0 0 0 1
IQSEC1-related disorder 0 1 0 1 0 0 0 1
ISCA2-related disorder 0 2 0 0 1 0 0 1
ISCU-related disorder 0 4 0 1 0 0 0 1
ISG15-related disorder 0 0 0 0 1 0 0 1
ISPD-related disorder 0 1 0 0 0 0 1 1
ITCH-related disorder 0 1 0 1 0 0 0 1
ITGA2-related disorder 0 4 0 1 0 0 0 1
ITGA4-related disorder 0 3 0 1 0 0 0 1
ITGA9-related disorder 0 5 0 1 0 0 0 1
ITGAV-related disorder 0 0 0 1 0 0 0 1
ITIH4-related disorder 0 1 0 1 0 0 0 1
ITPR1-associated cerebellar ataxia spectrum disorder 0 0 0 1 0 0 0 1
ITPR1-related disorders 0 0 0 1 0 0 0 1
IYD-related disorder 0 6 0 0 1 0 0 1
Idiopathic growth hormone deficiency 0 5 0 1 0 0 0 1
Idiopathic transverse myelitis 0 0 0 0 0 0 1 1
IgE responsiveness, atopic; Susceptibility to HIV infection 0 1 0 0 1 0 0 1
Immunodeficiency 33; Ectodermal dysplasia and immunodeficiency 1; Incontinentia pigmenti syndrome; Autoinflammatory disease, X-linked 0 1 0 1 0 0 0 1
Immunodeficiency 33; Ectodermal dysplasia and immunodeficiency 1; Incontinentia pigmenti syndrome; Immunodeficiency 47 0 0 0 1 0 1 1 1
Impaired ristocetin-induced platelet aggregation 0 0 0 1 0 0 0 1
Impaired temperature sensation 0 0 0 0 0 0 1 1
Impaired thromboxane A2 agonist-induced platelet aggregation 0 0 0 0 1 0 0 1
Increased susceptibility to fractures 0 0 0 1 0 0 0 1
Infantile Nephrotic syndrome 0 2 0 1 0 0 0 1
Infantile encephalopathy 0 0 0 1 0 0 0 1
Infantile or childhood onset neurodegenerative disease, global developmental delay, and intellectual disability 0 0 0 1 0 0 0 1
Infantile osteopetrosis 0 0 0 0 0 0 1 1
Inflammatory bowel disease 10, susceptibility to 0 0 0 0 0 0 1 1
Inherited Creutzfeldt-Jakob disease; Gerstmann-Straussler-Scheinker syndrome; Fatal familial insomnia; Huntington disease-like 1; Kuru, susceptibility to; Spongiform encephalopathy with neuropsychiatric features 0 5 0 1 0 0 0 1
Inherited bone marrow failure syndrome 0 1 0 1 0 0 0 1
Insulin-resistant diabetes mellitus 0 0 0 0 1 0 0 1
Intellectual disability with episodic ataxia and congenital arthrogryposis 0 0 0 1 0 0 0 1
Intellectual disability-hypotonic facies syndrome, X-linked 0 2 0 0 0 0 1 1
Interleukin 6, serum level of, quantitative trait locus 0 0 0 0 0 1 0 1
Internal malformations 0 0 0 0 1 1 1 1
Interstitial 6q microdeletion syndrome 0 0 0 1 0 1 1 1
Intractable seizure 0 1 0 0 0 0 1 1
Intrinsic factor deficiency, congenital, susceptibility to 0 0 0 0 0 0 1 1
Invasive pneumococcal disease, protection against 0 0 0 0 0 1 0 1
Ischemic stroke; Congenital prothrombin deficiency; Pregnancy loss, recurrent, susceptibility to, 2; Thrombophilia due to thrombin defect 0 3 0 1 0 0 0 1
Isolated GnRH Deficiency 0 0 0 1 0 0 0 1
Isovaleric acidemia, type III 0 0 0 1 0 0 0 1
JARID2-related disorder 0 4 0 1 0 0 0 1
JMJD7-PLA2G4B-related disorder 0 2 0 0 1 0 0 1
Joint hypermobility 0 1 0 0 1 0 0 1
Juvenile retinitis pigmentosa, AIPL1-related 0 0 0 0 0 0 1 1
KANSL1-related disorder 0 3 0 0 1 0 0 1
KATNAL2-related disorder 0 2 0 1 0 0 0 1
KCNA3-associated developmental and epileptic encephalopathy 0 1 0 0 0 0 1 1
KCND2-related disorder 0 1 0 1 0 0 0 1
KCND2-related neurodevelopmental disorder 0 0 0 0 0 0 1 1
KCNE2-related disorder 0 1 0 0 0 0 1 1
KCNJ2-related disorder 0 2 0 1 0 0 0 1
KCNJ5-related disorder 0 9 0 1 0 0 0 1
KCNJ6-related disorder 0 0 0 0 1 0 0 1
KCNJ8-related disorder 0 4 0 1 1 0 0 1
KCNK3-related disorder 0 0 0 1 0 0 0 1
KCNQ1-related epilepsy 0 0 0 0 0 0 1 1
KCNQ3-associated disorder 0 0 0 0 0 0 1 1
KCTD1-related disorder 0 1 0 0 1 0 0 1
KDM2B-related syndrome 0 0 0 1 0 0 0 1
KDM3A-related disorder 0 2 0 1 0 0 0 1
KDR-related disorder 0 3 0 1 0 0 0 1
KERA-related disorder 0 0 0 0 0 0 1 1
KIAA0319-related disorder 0 1 0 1 0 0 0 1
KIF1C-related disorder 0 7 0 0 1 0 0 1
KIF4A-related disorder 0 7 0 1 0 0 0 1
KIRREL3-related disorder 0 3 0 1 0 0 0 1
KIZ-related disorder 0 12 0 1 0 0 0 1
KLF7-related neurodevelopmental disorder 0 0 0 1 0 0 1 1
KLHL10-related disorder 0 0 0 1 0 0 0 1
KLHL20-related disorder 0 0 0 1 0 0 0 1
KLHL24-related disorder 0 6 0 1 0 0 0 1
KLHL7-related disorder 0 6 0 0 0 0 1 1
KLHL9-related disorder 0 4 0 1 0 0 0 1
KNOPS BLOOD GROUP SYSTEM 0 0 0 0 1 0 0 1
KRT13-related disorder 0 3 0 1 0 0 0 1
KYNU-related disorder 0 1 0 1 0 0 0 1
Kabuki Syndrome - KDM6A 0 0 0 0 0 0 1 1
Kabuki-like syndrome 0 0 0 1 0 0 0 1
Karak syndrome 0 0 0 1 0 0 0 1
Kel6 antigen 0 0 0 0 0 0 1 1
Klippel-Trenaunay-like-Syndrome 0 0 0 1 0 0 0 1
LARS2-Related Disorders 0 1 0 1 0 0 0 1
LAT-related disorder 0 2 0 1 0 0 0 1
LDHB-related disorder 0 0 0 1 0 0 0 1
LDLR-related familial hypercholesterolemia 0 0 0 1 0 0 0 1
LEPR POLYMORPHISM 0 2 0 1 0 0 0 1
LGI1-related disorder 0 4 0 1 0 0 0 1
LGI4-related disorder 0 2 0 1 0 0 0 1
LIMS2-related disorder 0 1 0 1 0 0 0 1
LINGO1-related disorder 0 6 0 1 0 0 0 1
LINS1-related disorder 0 3 0 1 0 0 0 1
LIPG-related disorder 0 1 0 1 0 0 0 1
LIPN-related disorder 0 2 0 1 0 0 0 1
LIPT2-related disorder 0 8 0 0 0 0 1 1
LMNB1-related disorder 0 6 0 1 0 0 0 1
LMNB2-related disorder 0 3 0 1 0 0 0 1
LMO7-related disorder 0 0 0 1 0 0 0 1
LMOD3-related disorder 0 3 0 0 1 0 0 1
LMX1A-related disorder 0 4 0 1 0 0 0 1
LNPK-related disorder 0 1 0 1 0 0 0 1
LOXL1-related disorder 0 0 0 1 0 0 0 1
LOXL3-related Stickler syndrome, autosomal recessive 0 1 0 0 0 0 1 1
LPA-related disorder 0 0 0 1 0 0 0 1
LPAR6-related disorder 0 0 0 1 0 0 0 1
LRAT-related disorder 0 4 0 1 0 0 0 1
LRMDA-related disorder 0 2 0 1 0 0 0 1
LRP10-related disorder 0 5 0 1 0 0 0 1
LRP12-related disorder 0 0 0 1 0 0 0 1
LRP8-related disorder 0 2 0 1 0 0 0 1
LRRC10-related disorder 0 0 0 1 0 0 0 1
LUNG CANCER, SUSCEPTIBILITY TO 0 0 0 0 0 0 1 1
LYN-related disorder 0 3 0 1 0 0 0 1
Landsteiner-Wiener phenotype 0 0 0 0 0 0 1 1
Large fontanelles; Anhydramnios 0 0 0 0 0 0 1 1
Late-onset cone-rod dystrophy 0 2 0 0 1 0 0 1
Late-onset spinocerebellar ataxia 0 0 0 0 0 0 1 1
Leprosy, susceptibility to, 2; Lung carcinoma; Autosomal recessive juvenile Parkinson disease 2; Ovarian neoplasm 0 0 0 1 0 0 0 1
Lethal skeletal dysplasia 0 1 0 0 0 0 1 1
Letrozole response 0 0 0 0 0 1 0 1
Leukemia, acute lymphoblastic, susceptibility to 0 0 0 0 0 0 1 1
Levothyroxine response 0 0 0 0 0 1 0 1
Limb-girdle muscle weakness; Limb-girdle muscle atrophy 0 0 0 0 0 0 1 1
Limb-girdle muscular dystrophy, recessive 0 1 0 1 0 0 0 1
Lobular capillary hemangiomas 0 0 0 1 0 0 1 1
Long QT syndrome 5, acquired, susceptibility to 0 0 0 0 0 1 1 1
Long QT syndrome 6, acquired, susceptibility to 0 0 0 0 0 0 1 1
Low renin, low aldosterone hypertension 0 0 0 0 0 0 1 1
Lung cancer susceptibility 2 0 0 0 0 0 0 1 1
Lupus nephritis, susceptibility to 0 0 0 0 0 0 1 1
Luteinizing hormone/choriogonadotropin receptor, lq variant 0 0 0 0 0 0 1 1
MACROD2-related disorder 0 1 0 1 0 0 0 1
MACRODACTYLY, SOMATIC 0 1 0 1 0 0 0 1
MACULAR DEGENERATION, AGE-RELATED, 1, SUSCEPTIBILITY TO 0 0 0 0 0 0 1 1
MAN2B2-related disorder 0 1 0 0 1 0 0 1
MAP3K1-related disorder 0 2 0 1 0 0 0 1
MAP3K6-related disorder 0 12 0 1 0 0 0 1
MAP7D3-related disorder 0 2 0 1 0 0 0 1
MAPK1-related disorder 0 2 0 1 0 0 0 1
MAPK3-related disorder 0 1 0 1 0 0 0 1
MARFAN SYNDROME, AUTOSOMAL RECESSIVE 0 1 0 1 0 0 0 1
MARFAN SYNDROME, MILD 0 0 0 0 0 0 1 1
MAST3-related disorder 0 1 0 0 0 0 1 1
MAT1A-related disorder 0 1 0 1 0 0 0 1
MATN3-related disorder 0 5 0 1 1 0 0 1
MAX-associated Macrocephaly and Polydactyly syndrome 0 0 0 0 0 0 1 1
MBD1-related disorder 0 2 0 1 0 0 0 1
MBD6-related disorder 0 3 0 1 0 0 0 1
MBOAT7-related disorder 0 3 0 1 0 0 0 1
MC2R-related disorder 0 1 0 1 1 0 0 1
MCADD - Medium-chain acyl-CoA dehydrogenase deficiency – full ACADM sequencing newborn screening follow up 0 4 0 0 0 0 1 1
MCHR1-related disorder 0 2 0 1 0 0 0 1
MCIDAS-related disorder 0 1 0 1 0 0 0 1
MCM6-related disorder 0 1 0 1 0 0 0 1
MEG3-related disorder 0 0 0 1 0 0 0 1
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B, REMITTING, WITH IMPAIRED INTELLECTUAL DEVELOPMENT 0 0 0 1 0 0 0 1
MELANESIAN BLOND HAIR 0 0 0 0 0 1 0 1
MEOX1-related disorder 0 3 0 1 1 0 0 1
MESD-related disorder 0 2 0 1 0 0 0 1
METACHROMATIC LEUKODYSTROPHY, LATE-ONSET 0 0 0 1 0 0 0 1
METTL23-related disorder 0 0 0 1 0 0 0 1
MFSD2A-related disorder 0 3 0 1 0 0 0 1
MICOS13-related disorder 0 0 0 1 0 0 0 1
MINPP1-related disorder 0 1 0 1 0 0 0 1
MKRN3-related disorder 0 3 0 0 0 0 1 1
MMAA-related disorder 0 3 0 1 0 0 0 1
MMP1-related disorder 0 1 0 1 0 0 0 1
MMP13-related disorder 0 2 0 1 0 0 0 1
MMP3-related disorder 0 1 0 1 0 0 0 1
MMP9-related disorder 0 4 0 1 0 0 0 1
MNS1-related disorder 0 2 0 1 0 0 0 1
MOCOS-related disorder 0 3 0 1 0 0 0 1
MOCS2-related molybdenum cofactor deficiency 0 0 0 1 0 0 1 1
MOCS3-related disorder 0 4 0 0 1 0 0 1
MOG-related disorder 0 0 0 1 0 0 0 1
MORC2-related developmental disorder 0 0 0 1 0 0 0 1
MPV17-related mitochondrial DNA maintenance defect 0 1 0 1 0 0 1 1
MPZ-related polyneuropathy 0 0 0 1 0 0 0 1
MPZL2-related disorder 0 2 0 0 1 0 0 1
MR1-related disorder 0 0 0 0 1 0 0 1
MRPL3-related disorder 0 1 0 1 1 0 0 1
MRPS14-related disorder 0 2 0 1 0 0 0 1
MRPS16-related disorder 0 2 0 1 0 0 0 1
MRPS2-related disorder 0 9 0 1 0 0 0 1
MS4A1-related disorder 0 1 0 1 0 0 0 1
MSH5-related disorder 0 3 0 1 0 0 0 1
MSMO1-related disorder 0 2 0 1 0 0 0 1
MSR1-related disorder 0 4 0 1 1 0 0 1
MSRB3-related disorder 0 4 0 0 1 0 0 1
MST1R-related disorder 0 3 0 0 1 0 0 1
MSTN-related disorder 0 1 0 0 1 0 0 1
MT-ATP6-related mitochondrial disease 0 0 0 0 0 0 1 1
MTFMT-Related Disorders 0 2 0 1 0 0 1 1
MTM1-related disorder 0 2 0 1 0 0 0 1
MTRFR-related disorder 0 0 0 0 1 0 0 1
MTSS2-related neurodevelopmental disorder 0 0 0 1 0 0 0 1
MUC5B-related disorder 0 5 0 1 0 0 0 1
MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH CONGENITAL HEART DEFECTS 0 0 0 1 0 0 0 1
MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITHOUT CONGENITAL HEART DEFECTS 0 0 0 1 0 0 0 1
MULTIPLE MYELOMA, t(11;14) TYPE, SUSCEPTIBILITY TO 0 0 0 0 0 0 1 1
MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 6, DIGENIC 0 0 0 0 0 0 1 1
MUTYH-related Breast Cancer 0 0 0 0 0 0 1 1
MYB-related disorder 0 1 0 1 0 0 0 1
MYC-related disorder 0 0 0 0 1 0 0 1
MYCBP2-related neurodevelopmental condition 0 0 0 0 0 0 1 1
MYF6-related disorder 0 1 0 1 0 0 0 1
MYL3-related disorder 0 7 0 1 0 0 0 1
MYMK-related disorder 0 0 0 1 0 0 0 1
MYO1C-related disorder 0 7 0 1 0 0 0 1
MYO1F-related disorder 0 9 0 1 0 0 0 1
Macrocephaly; Developmental delay 0 0 0 0 1 0 0 1
Macroscopic hematuria 0 0 0 1 0 0 0 1
Male subfertility 0 0 0 1 0 0 0 1
Malformation of the heart and great vessels 0 0 0 1 0 0 0 1
Malignant hyperthermia and exertional rhabdomyolosis 0 1 0 0 1 0 0 1
Marfan syndrome, atypical 0 1 0 0 1 0 0 1
Maternally-inherited mitochondrial myopathy 0 0 0 1 0 0 0 1
McArdle disease, mild 0 0 0 1 0 0 0 1
Meckel-Gruber-like syndrome 0 0 0 1 0 0 0 1
Metabolic syndrome, susceptibility to 0 0 0 0 0 0 1 1
Methotrexate response 0 0 0 0 0 1 0 1
Micrognathia 0 0 0 1 0 0 0 1
Micromelia 0 1 0 1 0 0 0 1
Migraine without aura; Stroke disorder 0 0 0 1 0 0 0 1
Mitochondrial DNA depletion syndrome 16A 0 0 0 1 0 0 1 1
Mitochondrial DNA depletion syndrome 2, myopathic form 0 0 0 1 0 0 0 1
Mitochondrial DNA-Associated Leigh Syndrome and NARP 0 1 0 0 0 0 1 1
Mitochondrial myopathy, episodic, without optic atrophy and reversible leukoencephalopathy 0 0 0 0 0 0 1 1
Mixed Phenotype Acute Leukemia, T/Myeloid, Not Otherwise Specified 0 0 0 1 0 0 0 1
Mo ALLOANTIGEN POLYMORPHISM 0 0 0 0 1 0 0 1
Moderate global developmental delay 0 0 0 1 0 0 0 1
Motor delay; Abnormal facial shape; Absent speech; Poor speech; Severe intellectual disability 0 0 0 1 0 0 0 1
Motor delay; Limb-girdle muscle weakness; EMG abnormality 0 0 0 0 0 0 1 1
Mucopolysaccharidosistype IIIB 0 0 0 1 0 0 0 1
Multi-minicore disease and atypical periodic paralysis 0 0 0 0 0 0 1 1
Multifocal breast carcinoma 0 0 0 0 0 0 1 1
Multiminicore/minicore/multicore disease 0 0 0 0 1 0 0 1
Multiple sclerosis modifier of disease progression 0 0 0 0 0 0 1 1
Multisystem disorder 0 0 0 0 0 0 1 1
Muscle dystrophy 0 0 0 1 0 1 1 1
Muscle weakness; Difficulty walking; Falls; Hip flexor weakness; Congenital hip dislocation 0 0 0 1 0 0 0 1
Muscle weakness; Headache; Gait imbalance; Difficulty walking; Paresthesia; Difficulty climbing stairs; Scapular winging; Difficulty standing 0 0 0 1 0 0 0 1
Mycobacterium tuberculosis, protection against 0 0 0 0 0 1 0 1
Myocardial infarction, protection against 0 0 0 1 1 1 0 1
Myoclonic absence seizure 0 0 0 1 0 0 0 1
Myopathy, RYR1-associated 0 7 0 1 0 0 0 1
Myopathy, progressive axial with cataracts 0 0 0 0 1 0 0 1
Myotonia 0 2 0 0 0 0 1 1
Myotonia; Handgrip myotonia 0 0 0 1 0 0 1 1
NADSYN1-related disorder 0 4 0 0 0 0 1 1
NANOS1-related disorder 0 2 0 1 0 0 0 1
NAT1*17 ALLELE 0 0 0 0 0 1 0 1
NCOR2-related disorder 0 11 0 1 0 0 0 1
NDP-related disorder 0 0 0 0 1 0 0 1
NDUFA1-related disorder 0 0 0 1 1 0 0 1
NDUFAF8-related disorder 0 0 0 1 0 0 0 1
NDUFB10-related disorder 0 0 0 1 0 0 0 1
NDUFB9-related disorder 0 0 0 0 1 0 0 1
NDUFS7-related disorder 0 4 0 1 0 0 0 1
NDUFV3-related disorder 0 1 0 0 1 0 0 1
NECTIN2-related disorder 0 2 0 1 0 0 0 1
NEK8-related disorder 0 6 0 1 0 0 0 1
NELFA-related disorder 0 3 0 1 0 0 0 1
NEO1-related disorder 0 2 0 1 0 0 0 1
NEUROD2-related disorder 0 1 0 1 0 0 0 1
NEURODEVELOPMENTAL DISORDER WITHOUT AUTISM OR SEIZURES 0 0 0 1 0 0 0 1
NEUROG3-related disorder 0 2 0 0 1 0 0 1
NFAT5-related disorder 0 7 0 1 0 0 0 1
NFIB-related disorder 0 2 0 1 0 0 0 1
NFIL3-related disorder 0 0 0 0 1 0 0 1
NFKBIA-related disorder 0 0 0 1 0 0 0 1
NHEJ1-related disorder 0 2 0 1 0 0 0 1
NHS-related disorder 0 9 0 1 0 0 0 1
NINL-related disorder 0 0 0 1 0 0 0 1
NIPA2-related disorder 0 1 0 1 0 0 0 1
NKX2-2-related disorder 0 1 0 0 1 0 0 1
NLRP7-related disorder 0 4 0 1 1 0 0 1
NME8-related disorder 0 1 0 0 1 0 0 1
NOBOX-related disorder 0 0 0 0 1 0 0 1
NODAL-related disorder 0 4 0 1 0 0 0 1
NOP56-related disorder 0 0 0 1 0 0 0 1
NOS2-related disorder 0 3 0 1 0 0 0 1
NPAS2-related disorder 0 1 0 1 0 0 0 1
NPR3-related disorder 0 5 0 1 0 0 0 1
NPRL2-related disorder 0 2 0 1 0 0 0 1
NR3C1 POLYMORPHISM 0 0 0 1 0 0 0 1
NR3C2-related disorder 0 5 0 1 0 0 0 1
NR4A2-related disorder 0 1 0 1 0 0 0 1
NRCAM-related disorder 0 4 0 0 0 0 1 1
NRXN3-related disorder 0 3 0 1 0 0 0 1
NSD3-related disorder 0 0 0 1 0 0 0 1
NSMCE3-related disorder 0 4 0 0 1 0 0 1
NTNG1-related disorder 0 3 0 1 0 0 0 1
NUDT2-associated condition 0 0 0 1 0 0 0 1
NUMA1-related disorder 0 4 0 1 0 0 0 1
NUP155-related disorder 0 6 0 1 0 0 0 1
NUP88-related disorder 0 1 0 1 0 0 0 1
NUSAP1-associated neurodevelopmental disorder 0 0 0 0 0 0 1 1
Nemaline myopathy 3, autosomal dominant or recessive 0 0 0 1 0 0 0 1
Neonatal alloimmune thrombocytopenia 0 0 0 1 0 0 0 1
Neonatal encephalopathy 0 1 0 1 0 0 0 1
Neonatal hypoglycemia 0 2 0 0 1 0 0 1
Neurodevelopmental disorder with brain abnormalities 0 0 0 1 0 0 0 1
Neuromuscular disease, congenital, with uniform type 1 fiber 0 1 0 1 0 0 0 1
Nevus sebaceous 0 5 0 1 0 0 0 1
Nodal T-follicular helper cell lymphoma 0 0 0 1 0 0 0 1
Non-syndromic male infertility due to sperm motility disorder 0 0 0 0 1 0 0 1
Nonsyndromic Heritable Thoracic Aortic Aneurysms And Dissections 0 0 0 0 0 0 1 1
Nonsyndromic cleft lip with or without cleft palate 0 0 0 0 1 0 0 1
Noonan-like disorder 0 0 0 1 0 0 0 1
OAS1 polymorphism 0 0 0 0 1 0 0 1
OBESITY (BMIQ9), SUSCEPTIBILITY TO 0 0 1 0 0 0 1 1
OBESITY, RESISTANCE TO 0 0 0 0 0 1 0 1
ODAD4-related disorder 0 0 0 1 0 0 0 1
OGG1-related disorder 0 1 0 1 0 0 0 1
OMG-related disorder 0 0 0 1 0 0 0 1
OPA1-Related Disorders Autosomal Recessive 0 0 0 0 0 0 1 1
ORC4-related disorder 0 4 0 1 1 0 0 1
ORC6-related disorder 0 3 0 1 0 0 1 1
OSTM1-related disorder 0 4 0 0 1 0 0 1
OTUD4-related disorder 0 0 0 1 0 0 0 1
OTUD7A-related disorder 0 3 0 1 0 0 0 1
OTULIN-related disorder 0 7 0 1 0 0 0 1
OTX1-related disorder 0 1 0 1 0 0 0 1
OTX2-related disorder 0 0 0 1 0 0 0 1
OVOL2-related disorder 0 1 0 1 0 0 0 1
Obesity, age at onset of 0 0 0 0 0 0 1 1
Obesity, early-onset, susceptibility to 0 0 1 0 0 0 1 1
Oculomotor apraxia 0 0 0 0 1 0 0 1
Orofacial cleft 6, susceptibility to; Popliteal pterygium syndrome; Van der Woude syndrome 1 0 0 0 1 0 0 0 1
Orofacial cleft 6, susceptibility to; Van der Woude syndrome 1; Autosomal dominant popliteal pterygium syndrome 0 1 0 1 0 0 0 1
Osteoporosis, susceptibility to 0 0 0 0 0 0 1 1
Ovarian Cancers 0 0 0 1 0 0 0 1
Overgrowth syndrome and/or cerebral malformations 0 0 0 0 0 0 1 1
P2RX5-related disorder 0 0 0 1 0 0 0 1
P2RX7-related disorder 0 0 0 1 0 0 0 1
P4HTM-related disorder 0 1 0 1 0 0 0 1
PACS1-related syndrome 0 0 0 1 0 0 0 1
PADI6-related disorder 0 1 0 0 1 0 0 1
PAIN SENSITIVITY QUANTITATIVE TRAIT LOCUS 1 0 0 0 0 0 1 0 1
PAK1-related disorder 0 7 0 1 0 0 0 1
PAM16-related disorder 0 0 0 1 0 0 0 1
PANX1-related disorder 0 4 0 1 0 0 0 1
PARD3-related disorder 0 7 0 1 0 0 0 1
PARK2-related Parkinson diseases 0 0 0 1 0 0 1 1
PARK7-related disorder 0 0 0 1 0 0 0 1
PAX7-related disorder 0 3 0 0 1 0 0 1
PAX8 POLYMORPHISM 0 0 0 1 0 0 0 1
PCDHA9-related disorder 0 5 0 1 0 0 0 1
PCK2-related neuropathy 0 0 0 0 0 0 1 1
PDE6H-related disorder 0 0 0 1 0 0 1 1
PDK3-related disorder 0 0 0 0 1 0 0 1
PDLIM3-related disorder 0 1 0 1 0 0 0 1
PDSS1-related disorder 0 5 0 1 0 0 0 1
PEN(a)/PEN(b) ALLOANTIGEN POLYMORPHISM 0 0 0 1 0 0 0 1
PER2-related disorder 0 4 0 1 0 0 0 1
PEX1-related Peroxisomal Biogenesis Disorder 0 0 0 0 0 0 1 1
PEX1-related Zellweger spectrum disorder 0 0 0 1 0 0 1 1
PEX6 POLYMORPHISM 0 0 0 0 1 0 0 1
PFKM-related disorder 0 3 0 0 1 0 0 1
PGAP1-related disorder 0 3 0 1 0 0 0 1
PHACTR1-related disorder 0 5 0 1 0 0 0 1
PHF3-related disorder 0 8 0 1 0 0 0 1
PHF7-related disorder 0 0 0 1 0 0 0 1
PHF8-related disorder 0 3 0 1 0 0 0 1
PHKA2-related disorder 0 7 0 1 0 0 0 1
PHOX2A-related disorder 0 0 0 1 0 0 0 1
PI CHRISTCHURCH 0 0 0 0 0 1 0 1
PI F 0 0 0 0 0 1 0 1
PI I 0 0 0 0 0 1 0 1
PI KALSHEKER-POLLER 0 0 0 0 0 1 0 1
PI M(HEERLEN) 0 0 0 0 0 1 0 1
PI M(MALTON) 0 0 0 0 0 1 0 1
PI M(PROCIDA) 0 0 0 0 0 1 0 1
PI M1-ALA213 0 0 0 1 0 0 0 1
PI M2 0 0 0 0 0 1 0 1
PI M3 0 0 0 0 0 1 0 1
PI M4 0 0 0 0 0 1 0 1
PI NULL(BELLINGHAM) 0 0 0 0 0 1 0 1
PI NULL(CARDIFF) 0 0 0 0 0 1 0 1
PI NULL(WEST) 0 0 0 0 0 1 0 1
PI P(DUARTE) 0 0 0 0 0 1 0 1
PI P(LOWELL) 0 0 0 0 0 1 0 1
PI Q0(BELLINGHAM) 0 0 0 0 0 1 0 1
PI Q0(CARDIFF) 0 0 0 0 0 1 0 1
PI S 0 0 0 0 0 1 0 1
PI W(BETHESDA) 0 0 0 0 0 1 0 1
PI X 0 0 0 0 0 1 0 1
PI Z 0 0 0 0 0 1 0 1
PI Z(AUGSBURG) 0 0 0 0 0 1 0 1
PI Z(BRISTOL) 0 0 0 0 0 1 0 1
PI Z(TUN) 0 0 0 0 0 1 0 1
PI Z(WREXHAM) 0 0 0 0 0 1 0 1
PI, M1A 0 0 0 1 0 0 0 1
PICK1-related disorder 0 0 0 1 0 0 0 1
PIDD1-associated neurodevelopmental disorder 0 0 0 0 0 0 1 1
PIDD1-related disorder 0 4 0 1 0 0 0 1
PIGB-related disorder 0 7 0 1 0 0 0 1
PIGL-related disorder 0 5 0 0 1 0 0 1
PIGU-related disorder 0 3 0 1 0 0 0 1
PIK3C1-related disorder 0 0 0 1 0 0 0 1
PIK3CA-Related Overgrowth Spectrum Disorders 0 0 0 1 0 0 0 1
PIK3R5-related disorder 0 3 0 1 0 0 0 1
PINK1-related disorder 0 7 0 1 0 0 0 1
PISD-related mitochondrial disease 0 0 0 0 0 0 1 1
PITUITARY TUMOR 3, GROWTH HORMONE-SECRETING, SOMATIC 0 0 0 0 0 0 1 1
PITX1-related disorder 0 3 0 0 1 0 0 1
PJA1-related disorder 0 0 0 1 0 0 0 1
PKP1-related disorder 0 7 0 1 0 0 0 1
PLCD1-related disorder 0 6 0 0 1 0 0 1
PLD1-related disorder 0 15 0 1 0 0 0 1
PLEKHA5-related disorder 0 2 0 1 0 0 0 1
PLN-related disorder 0 2 0 1 0 0 0 1
PLP1-related disorder 0 0 0 1 0 0 0 1
PLPBP-related disorder 0 3 0 1 0 0 0 1
PMFBP1-related disorder 0 5 0 1 0 0 0 1
PMP22-related disorder 0 3 0 1 0 0 0 1
PMS2-related cancer disorders 0 0 0 1 0 0 0 1
PMVK-related disorder 0 2 0 1 0 0 0 1
PNP POLYMORPHISM 0 0 0 1 0 0 0 1
PNPLA4-related disorder 0 0 0 1 0 0 0 1
PNPO-related disorder 0 3 0 0 1 0 0 1
POC5-related disorder 0 1 0 1 0 0 0 1
POF1B-related disorder 0 3 0 1 0 0 0 1
POLR1B-related disorder 0 2 0 1 0 0 0 1
POLR1D-related disorder 0 1 0 0 1 0 0 1
POLYCYSTIC LIVER DISEASE 4 WITH KIDNEY CYSTS 0 0 0 0 0 0 1 1
PORCN-related disorder 0 2 0 1 0 0 0 1
PORPHYRIA, ACUTE HEPATIC, DIGENIC 0 0 0 1 0 0 1 1
POU4F1-related disorder 0 1 0 1 0 0 0 1
POU6F2-related disorder 0 4 0 1 0 0 0 1
PPAN-P2RY11-related disorder 0 1 0 1 0 0 0 1
PPARG POLYMORPHISM 0 0 0 1 0 0 0 1
PPARGC1A-related disorder 0 4 0 1 0 0 0 1
PPIB-related disorder 0 2 0 1 0 0 0 1
PPIP5K2-related disorder 0 2 0 1 0 0 0 1
PPOX-related disorder 0 1 0 1 0 0 0 1
PPP2CA-related disorder 0 1 0 0 0 0 1 1
PPP2R1B-related disorder 0 0 0 1 0 0 0 1
PPP2R5B-related disorder 0 1 0 1 0 0 0 1
PPRC1-related disorder 0 4 0 1 0 0 0 1
PRDM12-related disorder 0 2 0 1 0 0 0 1
PRDM6-related disorder 0 2 0 1 0 0 0 1
PRDX1-related disorder 0 0 0 1 0 0 0 1
PRKAA2-related disorder 0 1 0 1 0 0 0 1
PRKAR1B-related neurodevelopmental disorder 0 0 0 1 0 0 0 1
PRKCB-related disorder 0 1 0 0 1 0 0 1
PRKCG-related disorder 0 4 0 1 0 0 0 1
PROALBUMIN MALMO 0 0 0 0 0 1 0 1
PRORP-related disorder 0 0 0 1 0 0 0 1
PROTHROMBIN TYPE 3 0 0 0 0 0 0 1 1
PRPF31-related disorder 0 20 0 1 1 0 0 1
PRRX1-related disorder 0 0 0 1 0 0 0 1
PRSS12-related disorder 0 3 0 1 0 0 0 1
PSMA3-related disorder 0 0 0 1 0 0 0 1
PSMB4-related disorder 0 6 0 0 1 0 0 1
PSMC3IP-related disorder 0 2 0 1 0 0 0 1
PSMC5-related neurodevelopmental condition 0 0 0 0 0 0 1 1
PSMD13-related disorder 0 0 0 1 0 0 0 1
PTBP2-related neurodevelopmental disease 0 0 0 0 0 0 1 1
PTEN hamartoma tumor syndromes 0 1 0 1 0 0 0 1
PTF1A-related disorder 0 2 0 1 0 0 0 1
PTHLH-related disorder 0 1 0 0 1 0 0 1
PTPN12-related disorder 0 1 0 1 0 0 0 1
PTPRC POLYMORPHISM 0 0 0 1 0 0 0 1
PTPRJ-related disorder 0 1 0 1 0 0 0 1
PTPRM-related disorder 0 3 0 1 0 0 0 1
PTPRU-related disorder 0 1 0 1 0 0 0 1
PTRH2-related disorder 0 1 0 1 0 0 0 1
PTS-related disorder 0 3 0 0 0 0 1 1
PTX3-related disorder 0 0 0 1 0 0 0 1
PUF60-related disorder 0 2 0 0 0 0 1 1
PUS3-related disorder 0 5 0 1 0 0 0 1
PVR-related disorder 0 0 0 1 0 0 0 1
Pain insensitivity 0 1 0 0 0 0 1 1
Pancreatic cancer, susceptibility to 0 0 1 0 0 0 0 1
Papulosquamous eruptions 0 2 0 1 0 0 0 1
Paramyotonia congenita/hyperkalemic periodic paralysis 0 2 0 1 0 0 0 1
Paramyotonia congenita/myotonia congenita 0 0 0 1 0 0 0 1
Parathyroid adenoma, somatic 0 1 0 1 0 0 0 1
Parietal foramina 2; Frontonasal dysplasia with alopecia and genital anomaly; Craniosynostosis 5, susceptibility to 0 1 0 1 0 0 0 1
Parkinson disease 13, autosomal dominant, susceptibility to; 3-methylglutaconic aciduria type 8 0 4 0 1 0 0 0 1
Parkinson disease 18, autosomal dominant, susceptibility to 0 6 0 1 0 0 0 1
Parkinson disease, resistance to 0 0 0 0 0 1 0 1
Paroxysmal central nervous system disorders 0 6 0 1 0 0 0 1
Partial 18p monosomy with 18q trisomy 0 0 0 0 0 0 1 1
Pediatric metastatic thyroid tumour 0 0 0 1 0 1 1 1
Pelizaeus-Merzbacher disease, mild 0 0 0 0 1 0 0 1
Peroxisomal biogenesis disorder 3b 0 0 0 1 0 0 0 1
Phenylthiocarbamide tasting 0 0 0 0 0 1 0 1
Platelet-type bleeding disorder 10; Coronary heart disease, susceptibility to, 7; Malaria, susceptibility to 0 1 0 0 0 0 1 1
Platinum compounds response - Efficacy 0 0 0 0 0 1 0 1
Polyostotic fibrous dysplasia, somatic, mosaic 0 0 0 0 0 0 1 1
Postaxial foot polydactyly; Truncal obesity; Moderate intellectual disability 0 0 0 1 0 0 0 1
Postaxial polydactyly, type A1/B 0 0 0 0 1 0 0 1
Predisposition to dissection 0 1 0 0 1 0 0 1
Prednisolone response 0 0 0 0 0 1 0 1
Preimplantation embryonic lethality 1 0 0 0 1 0 0 0 1
Prelingual sensorineural hearing impairment 0 0 0 1 0 0 0 1
Primary Immune Deficiency 0 0 0 0 0 0 1 1
Primary immunodeficiency or monogenic inflammatory bowel disease 0 1 0 1 0 0 0 1
Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies; Diffuse interstitial pulmonary fibrosis 0 0 0 1 0 0 0 1
Programmed death ligand-1 (PD-L1) blocking antibody response 0 0 0 0 0 1 0 1
Progressive distal muscle weakness; Progressive proximal muscle weakness 0 0 0 1 0 0 0 1
Progressive neurodegenerative disease 0 0 0 0 0 0 1 1
Progressive sensorineural hearing impairment 0 1 0 0 1 0 0 1
Prolonged QT interval 0 3 0 0 1 0 0 1
Properdin deficiency, type II 0 0 0 0 0 0 1 1
Propofol response 0 0 0 0 0 1 0 1
Prostate cancer susceptibility 0 1 0 1 0 1 0 1
Protein S Heerlen 0 0 0 0 0 0 1 1
Proximal muscle weakness; Falls; Muscle spasm; EMG abnormality; Proximal lower limb amyotrophy 0 0 0 1 0 0 0 1
Pseudoachondroplasia, severe 0 0 0 1 0 0 0 1
Psoriasis 13, susceptibility to; Candidiasis, familial, 8 0 0 0 1 0 0 0 1
Pulmonary Surfactant Metabolism Dysfunction, Dominant 0 0 0 1 0 0 0 1
Pulmonary artery atresia 0 0 0 0 0 0 1 1
Pulmonary hypertension, primary, fenfluramine-associated 0 0 0 0 0 0 1 1
Pure or complex autosomal recessive spastic paraplegia 0 7 0 1 0 0 0 1
QRICH1-related disorder 0 1 0 1 0 0 0 1
Qualitative or quantitative defects of collagen 6 0 0 0 1 0 0 0 1
Qualitative or quantitative defects of myotubularin 0 0 0 1 0 0 0 1
RAB33B-related disorder 0 0 0 0 1 0 0 1
RAC1-related disorder 0 1 0 1 0 0 0 1
RAC3-related disorder 0 2 0 1 0 0 0 1
RANBP2-related disorder 0 0 0 0 1 0 0 1
RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER 2, SOMATIC 0 2 0 1 0 0 0 1
RAX-related disorder 0 1 0 0 1 0 0 1
RAX2-related disorder 0 1 0 1 0 0 0 1
RBCK1-related disorder 0 3 0 0 1 0 0 1
RBFOX1-related disorder 0 4 0 0 1 0 0 1
RBM28-related disorder 0 4 0 1 0 0 0 1
RCBTB1-related disorder 0 6 0 0 1 0 0 1
RD3-related disorder 0 0 0 0 1 0 0 1
RDH11-related disorder 0 5 0 1 0 0 0 1
RDH12-related disorder 0 2 0 1 0 0 0 1
RED CONE POLYMORPHISM 0 0 0 1 0 0 0 1
RELB-related disorder 0 10 0 1 0 0 0 1
RELT-related disorder 0 2 0 1 0 0 0 1
REPS1-related disorder 0 7 0 0 1 0 0 1
RETINAL DYSTROPHY, ZEITZ-HAN TYPE 0 0 0 1 0 0 0 1
RFC1-related disorder 0 6 0 1 0 0 0 1
RFX5-related disorder 0 1 0 1 0 0 0 1
RFXAP-related disorder 0 0 0 1 0 0 0 1
RHD DEL 0 0 0 1 0 1 1 1
RHIZOMELIC SKELETAL DYSPLASIA WITH PELGER-HUET ANOMALY 0 2 0 1 0 0 1 1
RHIZOMELIC SKELETAL DYSPLASIA WITHOUT PELGER-HUET ANOMALY 0 0 0 1 0 0 1 1
RIPK1-related disorder 0 10 0 1 0 0 0 1
RNASEH2C-related disorder 0 2 0 0 0 0 1 1
RNF113A-related disorder 0 3 0 0 1 0 0 1
RNF125-related disorder 0 1 0 1 0 0 0 1
RNF170-related disorder 0 0 0 1 0 0 0 1
RNU2-2P-related disorders 0 0 0 1 0 0 0 1
ROR1-related disorder 0 10 0 1 0 0 0 1
RORC-related disorder 0 1 0 1 0 0 0 1
RP2-related disorder 0 2 0 1 0 0 0 1
RPE65-related retinopathy 0 0 0 1 0 0 0 1
RPIA-related disorder 0 2 0 1 0 0 0 1
RPL13-related disorder 0 0 0 1 0 0 1 1
RPL15-related disorder 0 8 0 1 0 0 0 1
RPL5-related disorder 0 1 0 1 0 0 0 1
RPS15-related disorder 0 0 0 1 0 0 0 1
RPS19-related disorder 0 2 0 1 0 0 0 1
RPS26-related disorder 0 0 0 1 0 0 0 1
RS1-related disorder 0 6 0 1 1 0 0 1
RSPH3-related disorder 0 2 0 1 0 0 0 1
RSPO4-related disorder 0 0 0 0 1 0 0 1
RTN4IP1-related disorder 0 2 0 1 0 0 0 1
RUBCN-related disorder 0 3 0 1 0 0 0 1
RXYLT1-related disorder 0 6 0 1 0 0 0 1
Rare disease with autism 0 0 0 1 0 0 0 1
Rare disease with thoracic aortic aneurysm and aortic dissection 0 1 0 0 1 0 0 1
Rare epilepsy 0 0 0 1 0 0 0 1
Ras Inhibitor response 0 0 0 0 0 1 0 1
Recessive Marfanoid Syndrome with Severe Herniation 0 0 0 0 0 0 1 1
Recurrent pancreatitis 0 1 0 0 0 0 1 1
Recurrent subcortical infarcts 0 0 0 1 0 0 0 1
Reduced tendon reflexes; Hammertoe; Achilles tendon contracture; Distal sensory impairment; Talipes cavus equinovarus; Progressive distal muscular atrophy; Progressive distal muscle weakness; Pain 0 0 0 0 0 0 1 1
Reduced von Willebrand factor activity; Reduced quantity of Von Willebrand factor 0 1 0 0 0 0 1 1
Regorafenib response 0 0 0 0 0 1 0 1
Regression of motor development with severe dystonia and corresponding basal ganglia lesions 0 0 0 0 0 0 1 1
Renal agenesis and hypodysplasia 0 0 0 0 0 1 0 1
Renal cortical hyperechogenicity 0 0 0 0 0 0 1 1
Renal transitional cell carcinoma 0 0 0 1 0 1 1 1
Resting heart rate 0 0 0 0 0 1 0 1
Retinitis pigmentosa 4, autosomal recessive 0 2 0 1 0 0 0 1
Retinitis pigmentosa in ciliopathies, modifier of 0 0 0 0 0 0 1 1
Retinitis pigmentosa with macular involvement 0 0 0 1 0 0 0 1
Rett syndrome, zappella variant 0 3 0 0 0 0 1 1
Rhd, weak d, type I 0 0 0 0 0 0 1 1
Right ventricular cardiomyopathy 0 0 0 0 0 0 1 1
Rigidity; Akinesia 0 0 0 1 0 0 0 1
Rippling muscle disease 2, autosomal recessive 0 0 0 1 0 0 1 1
Rudimentary fibula; Ankle flexion contracture 0 0 0 0 0 0 1 1
SAA1-related disorder 0 0 0 1 0 0 0 1
SAMHD1-related disorder 0 3 0 0 0 0 1 1
SARDH-related disorder 0 6 0 1 0 0 0 1
SARS1-related disorder 0 1 0 0 0 0 1 1
SARS2-associated condition 0 0 0 0 0 0 1 1
SASS6-related disorder 0 1 0 1 0 0 0 1
SBDS-related disorder 0 3 0 1 0 0 0 1
SC5D-related disorder 0 0 0 1 0 0 0 1
SCAMP5-related disorder 0 0 0 0 0 0 1 1
SCAMP5-related neurodevelopmental disorder with autistic features and seizures 0 0 0 1 0 0 1 1
SCFD1-related disorder 0 0 0 0 1 0 0 1
SCID with features of gamma chain deficiency 0 0 0 1 0 0 0 1
SCN1A Seizure Disorders 0 1 0 1 0 0 0 1
SCN1A seizure disorder 0 0 0 1 0 0 1 1
SCN3B-related disorder 0 1 0 0 1 0 0 1
SCNN1A-related disorder 0 6 0 1 0 0 0 1
SDR9C7-related disorder 0 1 0 1 0 0 0 1
SELENOI-related condition 0 0 0 0 1 0 0 1
SEMA4D-related disorder 0 5 0 1 0 0 0 1
SEPHS1-related developmental delay 0 0 0 1 0 0 0 1
SEPTIN9-related disorder 0 10 0 1 0 0 0 1
SEPTOOPTIC DYSPLASIA, MILD 0 0 0 0 0 0 1 1
SERPINA7-related disorder 0 3 0 1 0 0 0 1
SERPINB7-related disorder 0 2 0 1 0 0 0 1
SERPINB8-related disorder 0 3 0 1 0 0 0 1
SERPINE1-related disorder 0 0 0 1 0 0 0 1
SERUM HDL CHOLESTEROL LEVEL, MODIFIER OF 0 0 0 0 0 0 1 1
SETD1B-associated disorder 0 0 0 1 0 0 0 1
SF3B4-related disorder 0 5 0 1 0 0 0 1
SFRP4-related disorder 0 5 0 1 0 0 0 1
SFTPD-related disorder 0 0 0 1 0 0 0 1
SFXN4-related disorder 0 1 0 1 0 0 0 1
SGCB-related disorder 0 1 0 0 1 0 0 1
SGCG-related congenital myopathy 0 0 0 1 0 0 0 1
SGMS2-related disorder 0 2 0 1 0 0 0 1
SGO1-related disorder 0 2 0 1 0 0 0 1
SHANK1-associated disorder 0 0 0 1 0 0 0 1
SHQ1-related disorder 0 0 0 0 0 0 1 1
SIRT3-related disorder 0 0 0 1 0 0 0 1
SIX2-related disorder 0 4 0 0 1 0 0 1
SIX6-related disorder 0 1 0 1 1 0 0 1
SKI-related disorder 0 14 0 1 0 0 0 1
SLC12A5-related disorder 0 8 0 1 0 0 0 1
SLC16A1-related disorder 0 12 0 1 0 0 0 1
SLC1A1-related disorder 0 1 0 1 0 0 0 1
SLC1A4-related spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome 0 0 0 1 0 0 0 1
SLC25A11-related disorder 0 1 0 1 0 0 0 1
SLC25A20-related disorder 0 2 0 1 0 0 0 1
SLC25A26-related disorder 0 3 0 0 1 0 0 1
SLC25A4-related disorder 0 8 0 0 1 0 0 1
SLC25A40-related disorder 0 0 0 1 0 0 0 1
SLC26A8-related disorder 0 2 0 1 0 0 0 1
SLC28A1-related disorder 0 3 0 1 0 0 0 1
SLC29A4-related disorder 0 2 0 1 0 0 0 1
SLC2A10-related disorder 0 6 0 0 1 0 0 1
SLC33A1-related disorder 0 1 0 1 0 0 0 1
SLC35A2-related disorder 0 4 0 1 0 0 0 1
SLC39A7-related disorder 0 0 0 1 0 0 0 1
SLC40A1-related disorder 0 0 0 0 0 0 1 1
SLC44A1-related disorder 0 2 0 1 0 0 0 1
SLC4A10-related disorder 0 1 0 0 1 0 0 1
SLC4A10-related neurodevelopmental disorder 0 0 0 1 0 1 1 1
SLC4A3-related disorder 0 2 0 1 0 0 0 1
SLC51B-related disorder 0 4 0 0 1 0 0 1
SLC6A1-related neurodevelopmental condition 0 0 0 0 0 0 1 1
SLC6A5-related disorder 0 6 0 1 0 0 0 1
SLC7A3-related disorder 0 0 0 1 1 0 0 1
SLC9A1-related disorder 0 8 0 1 0 0 0 1
SLCO5A1-related disorder 0 1 0 1 0 0 0 1
SLURP1-related disorder 0 0 0 0 1 0 0 1
SMARCAD1-related disorder 0 1 0 1 0 0 0 1
SMARCE1-related disorder 0 7 0 1 1 0 0 1
SMC1A-related cohesinopathy 0 0 0 1 0 0 0 1
SMOC2-related disorder 0 3 0 1 0 0 0 1
SMPX-related disorder 0 0 0 1 1 0 0 1
SMS-related disorder 0 3 0 1 0 0 0 1
SNCB-related disorder 0 0 0 0 0 0 1 1
SNRNP200-related retinal disorder 0 0 0 0 0 0 1 1
SNRPA-related disorder 0 0 0 1 0 0 0 1
SNX27-related disorder 0 1 0 1 0 0 0 1
SOHLH1-related disorder 0 2 0 1 0 0 0 1
SOST-related disorder 0 2 0 1 0 0 0 1
SOX18-related disorder 0 2 0 1 0 0 0 1
SP110-related disorder 0 2 0 1 0 0 0 1
SPAG1-related disorder 0 2 0 1 0 0 0 1
SPAG17-related disorder 0 5 0 1 0 0 0 1
SPATA5L1-associated disorder 0 1 0 1 0 0 0 1
SPECC1L-related syndrome 0 0 0 1 0 0 0 1
SPG11-related spastic paraplegia 0 0 0 1 0 0 0 1
SPHEROCYTOSIS, TYPE 3, AUTOSOMAL RECESSIVE 0 0 0 0 0 0 1 1
SPINT2-related disorder 0 6 0 1 0 0 0 1
SPNS2-related disorder 0 3 0 1 0 0 0 1
SPOP-related neurodevelopmental condition 0 0 0 1 0 0 0 1
SPOUT1-related disorder 0 0 0 0 1 0 0 1
SPR-related disorder 0 1 0 1 0 0 0 1
SPTBN1-related neurodevelopmental disease 0 0 0 1 0 0 0 1
SPTBN5-related disorder 0 5 0 1 0 0 0 1
SRD5A3-related disorder 0 2 0 0 1 0 0 1
SRGAP1-related disorder 0 4 0 1 0 0 0 1
SRRM2-related disorder 0 4 0 1 0 0 0 1
SSR4-related disorder 0 0 0 1 0 0 0 1
SSTR5-related disorder 0 4 0 1 0 0 0 1
STAC3-related disorder 0 2 0 1 0 0 0 1
STARD9-related disorder 0 11 0 0 1 0 0 1
STING1-related disorder 0 4 0 0 1 0 0 1
STRADA-related disorder 0 2 0 1 0 0 0 1
STT3A-related disorder 0 1 0 0 1 0 0 1
STUB1-related disorder 0 2 0 1 0 0 0 1
STX11-related disorder 0 0 0 0 1 0 0 1
STXBP1-related neurodevelopmental disorder 0 0 0 0 0 0 1 1
SULF1-related disorder 0 3 0 1 0 0 0 1
SUMF1-related disorder 0 2 0 0 1 0 0 1
SUMF2-related disorder 0 1 0 1 0 0 0 1
SUOX-related disorder 0 4 0 1 0 0 0 1
SUPT16H-related disorder 0 4 0 1 0 0 0 1
SURF1-related disorder 0 5 0 1 0 0 0 1
SYNCRIP-related disorder 0 0 0 1 0 0 0 1
SYNGAP1-related complex neurodevelopmental disorder 0 0 0 1 0 0 0 1
SYNPO-related disorder 0 0 0 1 1 0 0 1
SYT1-associated neurodevelopmental disorder 0 0 0 1 0 0 0 1
SYT2-related disorder 0 6 0 1 0 0 0 1
Sandhoff disease, chronic 0 0 0 1 0 0 0 1
SeSAME-like syndrome 0 0 0 1 0 0 0 1
Segmental undergrowth associated with capillary malformation 0 1 0 0 0 0 1 1
Segmental undergrowth associated with lymphatic malformation 0 2 0 1 0 0 0 1
Segmental undergrowth associated with venous malformation without capillary component 0 2 0 0 0 0 1 1
Seizure; Abnormal facial shape; Severe intellectual disability 0 0 0 1 0 0 0 1
Seizure; Bilateral tonic-clonic seizure; Generalized non-motor (absence) seizure 0 0 0 0 1 0 0 1
Seizure; Cognitive impairment; Personality changes 0 0 0 1 0 0 0 1
Seizure; Epileptic encephalopathy 0 0 0 1 0 0 0 1
Seizure; Gait ataxia; Delayed fine motor development; Severe global developmental delay; Focal cortical dysplasia 0 0 0 1 0 0 0 1
Seizure; Neurodevelopmental delay; Hypotonia 0 0 0 0 0 0 1 1
Seizure; Self-injurious behavior; Tremor; Severe intellectual disability; Severe global developmental delay 0 0 0 1 0 0 1 1
Seizures, benign familial infantile, 6 0 0 0 0 0 0 1 1
Semidominant FLG-related disorders 0 0 0 0 0 0 1 1
Semidominant MFN2-related disorders 0 0 0 1 0 0 0 1
Sensorineural deafness and migraine 0 0 0 0 0 0 1 1
Serum calcium level 0 0 0 0 0 1 0 1
Severe lactic acidosis 0 0 0 0 0 0 1 1
Short QT Syndrome 5 0 1 0 0 1 0 0 1
Short stature; Abnormality of the skeletal system; Abnormal facial shape; Abnormality of the dentition 0 0 0 0 0 0 1 1
Short stature; Failure to thrive; Generalized muscle weakness; Delayed speech and language development; Abnormal speech pattern; Abnormality of the immune system; Hypotonia 0 0 0 1 1 0 0 1
Short stature; Microtia; Microretrognathia; 2-3 finger cutaneous syndactyly; Hypercholesterolemia; Decreased body weight; Round ear 0 0 0 0 0 0 1 1
Short stature; Relative macrocephaly 0 0 0 0 0 0 1 1
Short stature; Wide mouth; Wide nasal bridge; Relative macrocephaly 0 0 0 1 0 0 0 1
Sick sinus syndrome 3, susceptibility to 0 2 0 0 0 0 1 1
Sideroblastic anemia 1, late-onset 0 0 0 0 0 0 1 1
Silver Russell Syndrome-related disorder 0 0 0 0 1 1 1 1
Single ventricle; small Atrial septal defect 0 0 0 0 1 0 0 1
Skin/hair/eye pigmentation 3, blue/green eyes 0 0 0 0 0 1 0 1
Small intestine carcinoid 0 0 0 1 0 0 0 1
Small vessel cerebrovascular disease 0 0 0 1 0 0 0 1
Sodium serum level quantitative trait locus 1 0 0 0 0 0 1 0 1
Soluble interleukin-6 receptor, serum level of, quantitative trait locus 0 0 0 0 0 1 0 1
Spastic Paraplegia, Recessive 0 0 0 1 0 0 0 1
Spastic gait; Spastic paraplegia 0 0 0 1 0 0 0 1
Spastic tetraparesis 0 0 0 0 1 0 0 1
Spasticity 0 2 0 1 0 0 0 1
Spina bifida, folate-sensitive, susceptibility to 0 0 0 0 0 0 1 1
Spinal muscular atrophy, lower extremity-predominant, 2, AD 0 0 0 1 0 0 0 1
Splenomegaly 0 1 0 1 0 0 0 1
Splenomegaly; Decreased circulating immunoglobulin concentration 0 0 0 1 0 1 1 1
Spondyloepiphyseal dysplasia, Namaqualand type 0 0 0 0 0 0 1 1
Sporadic aniridia 0 0 0 1 0 0 0 1
Stargardt-like macular dystrophy 0 0 0 0 0 0 1 1
Sudden death 0 1 0 0 1 0 0 1
Susceptibility to HIV infection; Rheumatoid arthritis; Graft-versus-host disease, susceptibility to 0 0 0 0 1 0 0 1
Susceptibility to coronavirus disease (COVID-19) severity and mortality due to low plasma levels of MUC5B 0 0 0 0 1 0 0 1
Susceptibility to severe coronavirus disease (COVID-19) due to high plasma levels of TNF, TNFR, and/or TNFR6 0 0 0 0 1 0 0 1
Susceptibility to severe coronavirus disease (COVID-19) due to high plasma levels of TNF, TNFR, and/or TNFR7 0 0 0 0 1 0 0 1
Sweat chloride elevation without cystic fibrosis 0 0 0 1 0 0 0 1
Syndromic inherited retinal disease 0 0 0 1 0 0 0 1
Systemic lupus erythematosus, susceptibility to 0 0 1 1 0 0 0 1
Systemic lupus erythematosus, susceptibility to, 9; Immunodeficiency, common variable, 2; Immunodeficiency, common variable, 7 0 2 0 1 0 0 0 1
Systemic lupus erythematosus, susceptibility to, 9; Immunodeficiency, common variable, 7 0 4 0 0 1 0 0 1
TAF1-related syndromic intellectual disability 0 0 0 1 0 0 0 1
TAF2-related disorder 0 7 0 0 1 0 0 1
TAP1 deficiency, somatic 0 0 0 0 0 0 1 1
TAP1-related disorder 0 3 0 0 1 0 0 1
TARS1-related disorder 0 7 0 1 0 0 0 1
TARS2-related disorder 0 7 0 0 1 0 0 1
TAX1BP3-related arrhythmogenic right ventricular cardiomyopathy 0 0 0 1 0 1 1 1
TBC1D20-related disorder 0 4 0 1 0 0 0 1
TBC1D32-related disorder 0 2 0 0 1 0 0 1
TBC1D7-related disorder 0 5 0 1 0 0 0 1
TBL1Y-related disorder 0 0 0 1 0 0 0 1
TBX15-related disorder 0 3 0 0 1 0 0 1
TBXT-related disorder 0 1 0 1 0 0 0 1
TCAP-related disorder 0 3 0 0 1 0 0 1
TCF12-related disorder 0 8 0 1 0 0 0 1
TCF7L2-related disorder 0 2 0 1 0 0 0 1
TDP2-related disorder 0 4 0 1 0 0 0 1
TEAD1-related disorder 0 3 0 1 0 0 0 1
TF*C2 0 0 0 0 0 1 0 1
TFAM-related disorder 0 2 0 1 0 0 0 1
TGDS-related disorder 0 3 0 1 0 0 0 1
TGFB1-related disorder 0 7 0 1 0 0 1 1
TGFB2-related disorder 0 7 0 1 0 0 0 1
TGM3-related disorder 0 2 0 1 0 0 0 1
THBS1-related disorder 0 6 0 1 0 0 0 1
THG1L-related disorder 0 0 0 1 0 0 0 1
THSD1-related disorder 0 2 0 1 0 0 0 1
THYROID CANCER, NONMEDULLARY, 5, SUSCEPTIBILITY TO 0 0 0 0 0 0 1 1
TIA1-related disorder 0 0 0 0 0 0 1 1
TIMM22-related disorder 0 0 0 1 0 0 0 1
TJP1-related disorder 0 4 0 1 0 0 0 1
TLE6-related disorder 0 0 0 1 0 0 0 1
TLL1-related disorder 0 3 0 0 1 0 0 1
TLR1-related disorder 0 3 0 1 0 0 0 1
TLR4-related disorder 0 0 0 1 0 0 0 1
TMC6-related disorder 0 5 0 1 0 0 0 1
TMEM126B-related disorder 0 3 0 1 0 0 0 1
TMEM138-related disorder 0 0 0 1 0 0 0 1
TMEM175-related disorder 0 0 0 1 0 0 0 1
TMEM94-related disorder 0 6 0 0 1 0 0 1
TMLHE-related disorder 0 0 0 1 0 0 0 1
TNF receptor-associated periodic fever syndrome (TRAPS); Multiple sclerosis, susceptibility to, 5 0 1 0 0 1 0 0 1
TNFRSF11B-related disorder 0 2 0 0 1 0 0 1
TNIK-related disorder 0 4 0 1 0 0 0 1
TNK1-related disorder 0 2 0 1 0 0 0 1
TNN-related disorder 0 0 0 1 0 0 0 1
TNNI2-related disorder 0 4 0 1 0 0 0 1
TNNI3-associated disorder 0 0 0 1 0 0 0 1
TNS1-related disorder 0 15 0 1 0 0 0 1
TOP1-related disorder 0 1 0 1 0 0 0 1
TOP6BL-related disorder 0 0 0 1 0 0 0 1
TOPBP1-related disorder 0 1 0 0 1 0 0 1
TOR1A-related disorder 0 2 0 1 0 0 1 1
TP53BP2-related disorder 0 7 0 1 0 0 0 1
TPI1-related disorder 0 3 0 1 0 0 0 1
TPK1-related disorder 0 0 0 1 0 0 0 1
TPM2-related disorder 0 4 0 1 0 0 0 1
TPM3-related disorder 0 0 0 1 0 0 0 1
TPMT-related disorder 0 0 0 1 0 1 0 1
TPP2-related disorder 0 2 0 1 0 0 0 1
TPRN-related disorder 0 4 0 1 0 0 0 1
TRAF3-related disorder 0 2 0 1 1 0 0 1
TRAF3IP1-related disorder 0 7 0 0 1 0 0 1
TRAPPC14-related disorder 0 0 0 1 0 0 0 1
TRAPPC6A-related disorder 0 0 0 0 1 0 0 1
TRAPPC6B-related neurodevelopmental disorder 0 0 0 1 0 0 0 1
TRIM22-related disorder 0 0 0 1 0 0 0 1
TRIM8-related epileptic encephalopathy 0 0 0 1 0 0 0 1
TRIOSEPHOSPHATE ISOMERASE MANCHESTER 0 0 0 0 0 0 1 1
TRMT1-related disorder 0 1 0 0 1 0 0 1
TRMT10C-related disorder 0 2 0 1 0 0 1 1
TRPC5-related disorder 0 7 0 1 0 0 0 1
TRPV4-Associated Disorders 0 0 0 1 0 0 0 1
TRPV4-Related Hereditary Motor And Sensory Neuropathy 0 0 0 1 0 0 0 1
TRPV4-associated skeletal dysplasias 0 0 0 0 0 0 1 1
TTI2-related disorder 0 6 0 1 0 0 0 1
TTPA-related disorder 0 6 0 1 0 0 0 1
TUBB-related disorder 0 1 0 1 0 0 0 1
TUMOR PREDISPOSITION SYNDROME 4, BREAST 0 0 0 1 0 0 0 1
TUMOR PREDISPOSITION SYNDROME 4, BREAST/PROSTATE 0 1 0 1 0 0 0 1
TUMOR PREDISPOSITION SYNDROME 4, BREAST/PROSTATE/COLORECTAL 0 1 1 1 0 0 1 1
TWIST1-related craniofacial disorders 0 0 0 0 0 0 1 1
TYMS-related disorder 0 0 0 1 0 0 0 1
Thecoma, somatic 0 1 0 0 0 0 1 1
Three Vessel Coronary Disease 0 12 0 0 1 0 0 1
Thrombophilia caused by F2 prothrombin deficiency 0 0 1 1 0 0 0 1
Thyroxine-binding globulin deficiency 0 0 0 0 1 0 0 1
Thyroxine-binding globulin quantitative trait locus 0 0 0 0 0 0 1 1
Thyroxine-binding globulin, variant A 0 0 0 0 0 0 1 1
Thyroxine-binding globulin, variant P 0 0 0 0 0 0 1 1
Tolbutamide response 0 0 0 0 0 1 0 1
Transferrin variant B2 0 0 0 0 0 0 1 1
Transferrin variant D(Chi) 0 0 0 0 0 0 1 1
Tretinoin response 0 0 0 0 0 1 0 1
Trifascicular block on electrocardiogram 0 0 0 0 1 0 0 1
Tuberous sclerosis and lymphangiomyomatosis 0 0 0 0 1 0 0 1
Type 1 diabetes mellitus 2; High density lipoprotein cholesterol level quantitative trait locus 12; Hyperlipidemia due to hepatic triglyceride lipase deficiency 0 0 0 0 1 0 0 1
Type 1 diabetes mellitus 2; Maturity-onset diabetes of the young type 10; Diabetes mellitus, permanent neonatal 4 0 0 0 0 0 0 1 1
Type 1 diabetes mellitus 2; Maturity-onset diabetes of the young type 10; Hyperproinsulinemia 0 0 0 0 1 0 0 1
UBE2A-related disorder 0 0 0 1 0 0 0 1
UBE3B-related disorder 0 6 0 1 0 0 0 1
UBN2-related disorder 0 1 0 1 0 0 0 1
UCP2-related disorder 0 3 0 1 0 0 0 1
UFC1-related disorder 0 0 0 1 0 0 0 1
UFSP2-related neurodevelopmental disorder 0 0 0 1 0 0 1 1
UGT1A4-related disorder 0 0 0 0 1 0 0 1
UGT1A8-related condition 0 0 0 0 0 0 1 1
UGT1A9-related disorder 0 4 0 0 1 0 1 1
ULK4-related disorder 0 3 0 1 0 0 0 1
UMPS-related disorder 0 0 0 0 1 0 0 1
UQCC2-related disorder 0 0 0 0 1 0 0 1
UQCRC2-related disorder 0 5 0 1 0 0 0 1
URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 1; BLOOD GROUP, JUNIOR SYSTEM 0 0 0 0 0 0 1 1
UROC1-related disorder 0 5 0 1 0 0 0 1
USP8-related disorder 0 2 0 1 0 0 0 1
UVSSA-related disorder 0 1 0 1 0 0 0 1
Unexplained death in infancy and sudden unexplained death in childhood 0 0 0 1 0 0 0 1
Unilateral microphthalmos 0 0 0 0 0 0 1 1
Usher syndrome, type IIC, GPR98/PDZD7 digenic 0 0 0 0 0 0 1 1
VAMP1-related disorder 0 0 0 1 0 0 0 1
VANGL2-related disorder 0 1 0 1 0 0 0 1
VIL1-related disorder 0 1 0 0 1 0 0 1
VITAMIN B12 PLASMA LEVEL QUANTITATIVE TRAIT LOCUS 1 0 0 0 0 0 1 0 1
VPS11-related disorder 0 1 0 1 0 0 0 1
VPS16-related disorder 0 1 0 1 0 0 1 1
VPS25-related neurodevelopmental delay 0 0 0 0 0 0 1 1
VPS51-related disorder 0 0 0 1 0 0 0 1
VRK1-related disorder 0 1 0 0 1 0 0 1
VTN-related disorder 0 2 0 1 0 0 0 1
VWA1-related disorder 0 0 0 1 0 0 0 1
Vascular dilatation 0 0 0 0 1 0 0 1
Venous thrombosis, susceptibility to 0 1 0 0 0 0 1 1
Ventriculomegaly; Abnormal brainstem morphology 0 1 0 0 0 0 1 1
Vitiligo-associated multiple autoimmune disease susceptibility 1 0 0 0 0 0 0 1 1
WBP2-related disorder 0 4 0 1 0 0 0 1
WDR1 deficiency 0 0 0 0 1 0 0 1
WDR45B-related disorder 0 0 0 1 0 0 0 1
WDR48-related disorder 0 0 0 0 1 0 0 1
WEE2-related disorder 0 0 0 0 1 0 0 1
WFS1 Spectrum Disorder 0 0 0 1 0 0 0 1
WIPI2-related disorder 0 6 0 1 0 0 0 1
WISKOTT-ALDRICH SYNDROME, ATTENUATED 0 0 0 1 0 0 0 1
WLS-related disorder 0 0 0 1 0 0 0 1
WNT1-related disorder 0 3 0 0 0 0 1 1
WNT10B-related disorder 0 0 0 1 0 0 0 1
WNT3-related disorder 0 2 0 1 0 0 0 1
WNT3A-related disorder 0 0 0 1 0 0 0 1
WNT4-related disorder 0 2 0 1 0 0 0 1
WNT5A-related disorder 0 10 0 1 0 0 0 1
WT1-related Wilms tumor 0 1 0 1 0 0 0 1
Waardenburg syndrome type 4B; Hirschsprung disease, susceptibility to, 4 0 3 0 1 0 0 0 1
X-Linked Neutropenia (XLN) 0 0 0 1 0 0 0 1
X-linked ARX-related disorders 0 1 0 1 0 0 0 1
X-linked DMD-related disorders 0 1 0 0 0 0 1 1
X-linked FLNA-related disorders 0 0 0 0 0 0 1 1
X-linked PHKA2-related disorders 0 0 0 1 0 0 0 1
X-linked intellectual disability 0 0 0 0 1 0 0 1
X-linked otopalatodigital spectrum disorders 0 0 0 1 0 0 0 1
X-linked retinitis pigmentosa 0 1 0 1 0 0 0 1
XK-related disorder 0 0 0 1 0 0 0 1
XRCC4-related disorder 0 1 0 1 0 0 0 1
XYLT1-related disorder 0 6 0 0 1 0 0 1
YAP1-related disorder 0 5 0 1 0 0 0 1
YME1L1-related disorder 0 2 0 0 1 0 0 1
YRDC-related disorder 0 7 0 1 0 0 0 1
YTHDC2-related disorder 0 5 0 1 0 0 0 1
YWHAG-related disorder 0 3 0 1 0 0 0 1
YWHAZ-related neurodevelopmental syndrome 0 0 0 1 0 0 0 1
YY1-related disorder 0 2 0 1 0 0 0 1
ZAP70-related disorder 0 6 0 0 1 0 0 1
ZBTB24-related disorder 0 3 0 1 0 0 0 1
ZC4H2-related X-linked intellectual disability 0 1 0 1 0 0 0 1
ZEB1-related disorder 0 1 0 1 0 0 0 1
ZFP57-related disorder 0 7 0 0 1 0 0 1
ZFR-related disorder 0 0 0 1 0 0 0 1
ZIC2-related disorder 0 1 0 1 0 0 0 1
ZMIZ1-related disorder 0 4 0 1 0 0 0 1
ZMPSTE24-related disorder 0 4 0 0 0 0 1 1
ZMYND15-related disorder 0 0 0 0 1 0 0 1
ZNF141-related disorder 0 2 0 1 0 0 0 1
ZNF331 deletion 0 0 0 0 1 1 1 1
ZNF408-related disorder 0 8 0 0 1 0 0 1
ZNF589-related disorder 0 1 0 1 0 0 0 1
ZNF668-related disorder 0 1 0 1 0 0 0 1
ZNF674-related disorder 0 4 0 0 1 0 0 1
ZNF711-related disorder 0 0 0 1 0 0 0 1
ZNRF3-related disorder 0 0 0 0 0 0 1 1
ZP1-related disorder 0 1 0 1 0 0 0 1
ZPBP-related disorder 0 0 0 1 0 0 0 1
altered potassium channel function 0 0 0 0 1 0 0 1
altered red cell phenotype 0 0 0 0 0 1 0 1
amikacin response - Toxicity 0 0 0 0 0 1 0 1
atorvastatin response - Efficacy 0 0 0 0 0 1 0 1
atorvastatin response - Metabolism/PK 0 0 0 0 0 1 0 1
atorvastatin response - Toxicity 0 0 0 0 0 1 0 1
autosomal dominant PALB2-related cancer predisposition 0 9 0 1 0 0 0 1
autosomal recessive ABCA4-related retinopathy 0 3 1 1 0 0 0 1
autosomal recessive CDH23-related disorders 0 2 0 1 0 0 0 1
autosomal recessive PIEZO2 associated disease 0 1 0 0 1 0 0 1
autosomal recessive isolated fingernail dysplasia 0 0 0 0 0 0 1 1
benign sporadic infantile epilepsy 0 0 0 1 0 0 0 1
clopidogrel response - Efficacy 0 0 0 0 0 1 0 1
clopidogrel response - Metabolism/PK 0 0 0 0 0 1 0 1
developmental delay with intractable seizures 0 1 0 0 1 0 0 1
erlotinib response - Efficacy 0 0 0 0 0 1 0 1
fluvastatin response - Metabolism/PK 0 0 0 0 0 1 0 1
fluvastatin response - Toxicity 0 0 0 0 0 1 0 1
focal and segmental glomerulosclerosis 0 0 0 0 1 0 1 1
gefitinib response - Efficacy 0 0 0 0 0 1 0 1
heterogeneous nuclear ribonucleoprotein G, human 0 0 0 0 1 0 0 1
hmg coa reductase inhibitors response - Toxicity 0 0 0 0 0 1 0 1
hormonal contraceptives for systemic use response - Toxicity 0 0 0 0 0 1 0 1
hyprtrophic cardiomyopathy 0 0 0 1 0 0 0 1
increased susceptibility to pneumonia 0 0 0 0 0 0 1 1
intellectual deficiency; dysmorphy 0 0 0 0 0 0 1 1
interferons, peginterferon alfa-2a, peginterferon alfa-2b, and ribavirin response - Efficacy 0 0 0 0 0 1 0 1
ivacaftor / lumacaftor response - Efficacy 0 0 0 0 0 1 0 1
ivacaftor / tezacaftor response - Efficacy 0 0 0 0 0 1 0 1
lethal neurodevelopmental disorder 0 0 0 0 0 0 1 1
lovastatin acid response - Metabolism/PK 0 0 0 0 0 1 0 1
lovastatin response - Metabolism/PK 0 0 0 0 0 1 0 1
lovastatin response - Toxicity 0 0 0 0 0 1 0 1
methamphetamine use disorder 0 0 0 0 1 0 0 1
mitochondrial hepatopathy 0 0 0 0 0 0 1 1
nonsyndromic sensorineural hearing loss 0 6 0 1 0 0 0 1
p phenotype 0 0 0 0 0 1 0 1
peginterferon alfa-2a, peginterferon alfa-2b, ribavirin, and telaprevir response - Efficacy 0 0 0 0 0 1 0 1
phenprocoumon response - Toxicity 0 0 0 0 0 1 0 1
pitavastatin response - Metabolism/PK 0 0 0 0 0 1 0 1
pravastatin response - Toxicity 0 0 0 0 0 1 0 1
recessive ARS-related multisystem disease 0 0 0 1 0 0 1 1
rosuvastatin response - Metabolism/PK 0 0 0 0 0 1 0 1
rosuvastatin response - Toxicity 0 0 0 0 0 1 0 1
serous cystadenoma/endometrioid carcinoma 0 0 0 1 0 0 0 1
simvastatin acid response - Metabolism/PK 0 0 0 0 0 1 0 1
simvastatin response - Metabolism/PK 0 0 0 0 0 1 0 1
simvastatin response - Toxicity 0 0 0 0 0 1 0 1
sorafenib response - Toxicity 0 0 0 0 0 1 0 1
sporadic NAFE 0 0 0 0 1 0 0 1
tobramycin response - Toxicity 0 0 0 0 0 1 0 1
unclassified developmental and epileptic encephalopathy 0 1 0 1 0 0 0 1
unspecified heart condition 0 0 0 1 0 0 0 1
warfarin response - Efficacy 0 0 0 0 0 1 0 1
warfarin response - Toxicity 0 0 0 0 0 1 0 1

All variants with conflicting interpretations #

Total variants: 109999
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005629.4(SLC6A8):c.-5A>G rs384573 1.00000
NM_007293.3(C4A):c.2944+55T>C rs149464899 1.00000
NM_176787.5(PIGN):c.1117-1= rs9959632 1.00000
NM_000363.5(TNNI3):c.373-10= rs7252610 0.99999
NM_031407.7(HUWE1):c.12903= (p.Thr4301=) rs477171 0.99999
NM_006660.5(CLPX):c.1146+13G>A rs2946670 0.99997
NM_001367624.2(ZNF469):c.3153T>C (p.Ile1051=) rs9924504 0.99996
NM_001384732.1(CPLANE1):c.81+20= rs6876576 0.99993
NM_139057.4(ADAMTS17):c.1696A>C (p.Arg566=) rs12907333 0.99986
NM_000065.5(C6):c.1881C>T (p.Asp627=) rs6866352 0.99979
NM_000054.7(AVPR2):c.26-6T>G rs56689668 0.99968
NM_000719.7(CACNA1C):c.5445-511= rs10774054 0.99960
NM_005560.6(LAMA5):c.7386T>C (p.Asp2462=) rs2427281 0.99957
NM_030928.4(CDT1):c.700T>C (p.Cys234Arg) rs507329 0.99945
NM_002775.5(HTRA1):c.1274+8G>A rs2672586 0.99939
NM_004415.4(DSP):c.741= (p.Ala247=) rs2806234 0.99917
NM_001042413.2(GLIS3):c.1270T>C (p.Ser424Pro) rs806052 0.99897
NM_198241.3(EIF4G1):c.481A>G (p.Thr161Ala) rs13319149 0.99798
NM_173076.3(ABCA12):c.2329T>A (p.Ser777Thr) rs7560008 0.99785
NM_004525.3(LRP2):c.63G>C (p.Ala21=) rs1559014 0.99771
NM_000338.3(SLC12A1):c.2873T>C (p.Val958Ala) rs1552311 0.99751
NM_014832.5(TBC1D4):c.723G>C (p.Gly241=) rs7983969 0.99710
NM_005751.5(AKAP9):c.8935C>T (p.Pro2979Ser) rs1063242 0.99690
NM_001368882.1(COL13A1):c.685-1181A>G rs1227746 0.99639
NM_001368882.1(COL13A1):c.744G>A (p.Thr248=) rs1227747 0.99636
NM_003055.3(SLC18A3):c.1559C>A (p.Ala520Glu) rs8187730 0.99621
NM_145649.5(GCNT2):c.926-34546C>G rs539351 0.99583
NM_001267550.2(TTN):c.67246G>C (p.Ala22416Pro) rs4145333 0.99572
NM_153460.4(IL17RC):c.920A>G (p.Gln307Arg) rs279549 0.99558
NM_000281.4(PCBD1):c.3+154T>C rs827238 0.99517
NM_001082971.2(DDC):c.49A>G (p.Met17Val) rs6264 0.99435
NM_001374385.1(ATP8B1):c.696T>C (p.Asp232=) rs319438 0.99433
NM_017947.4(MOCOS):c.475C>A (p.Arg159=) rs646424 0.99420
NM_031407.7(HUWE1):c.12177T>C (p.Gly4059=) rs426298 0.99420
NM_003868.3(FGF16):c.168A>G (p.Leu56=) rs1054967228 0.99410
NM_001130438.3(SPTAN1):c.651+37A>C rs2297769 0.99407
NM_000111.3(SLC26A3):c.1953T>C (p.Leu651=) rs41669 0.99393
NM_001363.5(DKC1):c.369G>T (p.Thr123=) rs2728532 0.99384
NM_000387.6(SLC25A20):c.536-18T>C rs6414612 0.99352
NM_017757.3(ZNF407):c.33T>C (p.Asp11=) rs7243081 0.99326
NM_001289104.2(PRKCSH):c.850-14T>C rs186375 0.99255
NM_020921.4(NIN):c.933G>C (p.Leu311=) rs8020503 0.99252
NM_020921.4(NIN):c.5628+5T>C rs3015485 0.99236
NM_024596.5(MCPH1):c.1175A>G (p.Asp392Gly) rs2515569 0.99234
NM_001277115.2(DNAH11):c.1956C>T (p.Phe652=) rs6963535 0.99232
NM_016529.6(ATP8A2):c.2286G>C (p.Leu762=) rs6491088 0.99194
NM_182961.4(SYNE1):c.21904T>G (p.Phe7302Val) rs2147377 0.99149
NM_005045.4(RELN):c.8843+7G>C rs2711885 0.98938
NM_004977.3(KCNC3):c.188A>G (p.Asp63Gly) rs375912738 0.98789
NM_006790.3(MYOT):c.220= (p.Gln74=) rs6890689 0.98645
NM_014363.6(SACS):c.10338G>A (p.Gln3446=) rs2737701 0.98600
NM_198859.4(PRICKLE2):c.816T>C (p.Asp272=) rs27673 0.98545
NM_000144.5(FXN):c.54A>G (p.Pro18=) rs2481598 0.98511
NM_018026.4(PACS1):c.2777-3T>C rs524268 0.98490
NM_000083.3(CLCN1):c.352G>T (p.Gly118Trp) rs10282312 0.98349
NM_000130.5(F5):c.1601= (p.Arg534=) rs6025 0.98238
NM_024577.4(SH3TC2):c.1587T>G (p.Arg529=) rs1432794 0.98003
NM_002666.5(PLIN1):c.580C>G (p.Pro194Ala) rs6496589 0.97561
NM_020549.5(CHAT):c.580-35G>A rs1880677 0.97479
NM_032119.4(ADGRV1):c.16279G>A (p.Val5427Met) rs2438378 0.97324
NM_006214.4(PHYH):c.153C>T (p.Asn51=) rs1747682 0.97091
NM_001130438.3(SPTAN1):c.2560+43G>A rs4836615 0.96851
NM_001130438.3(SPTAN1):c.4905+41C>G rs7024498 0.96844
NM_002495.4(NDUFS4):c.198A>C (p.Gly66=) rs31304 0.96579
NM_001042517.2(DIAPH3):c.3028-4_3028-3insGTAA rs10665848 0.96433
NM_181882.3(PRX):c.3394G>A (p.Gly1132Arg) rs268674 0.95976
NM_003839.4(TNFRSF11A):c.933A>G (p.Thr311=) rs8092336 0.95903
NM_001378615.1(CC2D2A):c.4065+28A>T rs6832789 0.95746
NM_001191016.3(CASP12):c.373C>T (p.Arg125Ter) rs497116 0.95649
NM_002025.4(AFF2):c.3404+7A>G rs5980615 0.95464
NM_024753.5(TTC21B):c.826A>G (p.Thr276Ala) rs7592429 0.95419
NM_015386.3(COG4):c.485C>T (p.Thr162Ile) rs3931036 0.95397
NM_016553.5(NUP62):c.1323T>C (p.Asp441=) rs892028 0.95154
NM_007327.4(GRIN1):c.1467+8G>A rs10747050 0.94915
NM_025099.6(CTC1):c.2458A>G (p.Ile820Val) rs3027238 0.94614
NM_032119.4(ADGRV1):c.16031A>G (p.Glu5344Gly) rs2438374 0.93887
NM_015346.4(ZFYVE26):c.5672A>G (p.Asn1891Ser) rs3742883 0.93795
NM_001126121.2(SLC25A19):c.339T>C (p.Tyr113=) rs7213318 0.93495
NM_000207.3(INS):c.187+11T>C rs5506 0.93263
NM_001130438.3(SPTAN1):c.6708-47G>A rs7866175 0.93246
NM_198994.3(TGM6):c.172A>G (p.Met58Val) rs2076405 0.93204
NM_152296.5(ATP1A3):c.666T>G (p.Thr222=) rs2217342 0.93139
NM_000466.3(PEX1):c.2331C>A (p.Gly777=) rs10278857 0.93013
NM_000322.5(PRPH2):c.929G>A (p.Arg310Lys) rs425876 0.92861
NM_022095.4(ZNF335):c.201+10C>G rs6017715 0.92719
NM_000130.5(F5):c.5419+12A>G rs6009 0.92617
NM_000388.4(CASR):c.3031G>C (p.Glu1011Gln) rs1801726 0.92120
NM_031433.4(MFRP):c.540T>C (p.His180=) rs2510143 0.91859
NM_001003841.3(SLC6A19):c.990A>G (p.Thr330=) rs4975629 0.91839
NM_016219.5(MAN1B1):c.176A>G (p.Asn59Ser) rs968733 0.91637
NM_015665.6(AAAS):c.855C>T (p.Phe285=) rs1546808 0.91562
NM_001123385.2(BCOR):c.1260T>C (p.Asp420=) rs5917933 0.91469
NM_025114.4(CEP290):c.2268A>G (p.Ser756=) rs2468255 0.91372
NM_032119.4(ADGRV1):c.18625-7T>C rs7726023 0.91136
NM_004715.5(CTDP1):c.2817T>C (p.Asp939=) rs626169 0.90887
NM_000369.5(TSHR):c.2181G>C (p.Glu727Asp) rs1991517 0.90865
NM_018100.4(EFHC1):c.*881A>T rs6926242 0.90788
NM_198525.3(KIF7):c.195G>C (p.Ala65=) rs8179066 0.90462
NM_000335.5(SCN5A):c.3183A>G (p.Glu1061=) rs7430407 0.90302
NM_022336.4(EDAR):c.750C>T (p.Ser250=) rs260632 0.90287
NM_014165.4(NDUFAF4):c.420G>A (p.Gln140=) rs11402 0.90252
NM_198525.3(KIF7):c.1102A>G (p.Thr368Ala) rs8037349 0.90195
NM_005751.5(AKAP9):c.3075C>T (p.Thr1025=) rs1989779 0.90157
NM_174936.4(PCSK9):c.2009G>A (p.Gly670Glu) rs505151 0.89865
NM_000430.4(PAFAH1B1):c.568+27C>T rs3213696 0.89105
NM_002739.5(PRKCG):c.72C>T (p.Ala24=) rs2547362 0.89099
NM_022095.4(ZNF335):c.881G>C (p.Ser294Thr) rs6032606 0.88895
NM_000404.4(GLB1):c.34T>C (p.Leu12=) rs7614776 0.88846
NM_000520.6(HEXA):c.1306A>G (p.Ile436Val) rs1800431 0.88741
NM_001184.4(ATR):c.7875G>A (p.Gln2625=) rs1802904 0.88595
NM_000520.6(HEXA):c.1518A>G (p.Glu506=) rs4777502 0.87885
NM_001814.6(CTSC):c.458T>C (p.Ile153Thr) rs217086 0.87607
NM_018344.6(SLC29A3):c.383+8A>G rs2243540 0.87580
NM_018344.6(SLC29A3):c.976A>G (p.Ile326Val) rs2487068 0.87306
NM_001918.5(DBT):c.1150A>G (p.Ser384Gly) rs12021720 0.87100
NM_000744.7(CHRNA4):c.1227T>C (p.Cys409=) rs2229960 0.86626
NM_018344.6(SLC29A3):c.714T>C (p.Thr238=) rs2252997 0.86524
NM_012301.4(MAGI2):c.3213G>A (p.Ser1071=) rs7812015 0.86488
NM_001961.4(EEF2):c.1632T>C (p.His544=) rs36526 0.86195
NM_001961.4(EEF2):c.2190T>C (p.Tyr730=) rs36527 0.86186
NM_012301.4(MAGI2):c.3357A>G (p.Leu1119=) rs2074641 0.85789
NM_001849.4(COL6A2):c.1671+10A>G rs915786 0.85505
NM_198525.3(KIF7):c.2658A>C (p.Ala886=) rs3803531 0.85312
NM_016511.4(CLEC1A):c.77G>C (p.Gly26Ala) rs2306894 0.85307
NM_001378615.1(CC2D2A):c.247+26A>G rs10000250 0.85108
NM_030667.3(PTPRO):c.1106-10T>A rs4764199 0.84939
NM_022455.5(NSD1):c.6829T>C (p.Leu2277=) rs28580074 0.84910
NM_003283.6(TNNT1):c.-20A>G rs9636153 0.84878
NM_000552.5(VWF):c.7239T>C (p.Thr2413=) rs216867 0.84456
NM_018344.6(SLC29A3):c.715G>A (p.Val239Ile) rs2252996 0.84172
NM_018249.6(CDK5RAP2):c.865G>C (p.Glu289Gln) rs4836822 0.84114
NM_001173990.3(TMEM216):c.264G>A (p.Pro88=) rs3741265 0.84043
NM_030928.4(CDT1):c.915T>C (p.His305=) rs510862 0.83978
NM_078470.6(COX15):c.*1126T>C rs2231687 0.83974
NM_006392.4(NOP56):c.105T>C (p.Ser35=) rs2073194 0.83966
NM_018344.6(SLC29A3):c.1008T>C (p.Gly336=) rs1084004 0.83737
NM_017780.4(CHD7):c.2238+39G>A rs4540437 0.83608
NM_018249.6(CDK5RAP2):c.1093-27A>G rs2095064 0.83235
NM_174936.4(PCSK9):c.1420G>A (p.Val474Ile) rs562556 0.83129
NM_182961.4(SYNE1):c.15043T>A (p.Leu5015Met) rs2306916 0.82174
NM_003282.4(TNNI2):c.60T>C (p.Ser20=) rs907610 0.82025
NM_016553.5(NUP62):c.648C>T (p.Ser216=) rs999583 0.81755
NM_000518.5(HBB):c.315+16G>C rs10768683 0.81748
NM_001715.3(BLK):c.843T>C (p.Phe281=) rs2306234 0.81361
NM_001330260.2(SCN8A):c.576C>T (p.Asp192=) rs4761829 0.81114
NM_018136.5(ASPM):c.7566A>G (p.Leu2522=) rs1412640 0.81072
NM_182961.4(SYNE1):c.13786T>A (p.Ser4596Thr) rs6911096 0.80856
NM_016219.5(MAN1B1):c.2046T>C (p.Asp682=) rs4880091 0.80826
NM_000744.7(CHRNA4):c.678T>C (p.Cys226=) rs1044394 0.80763
NM_182961.4(SYNE1):c.12362A>G (p.Lys4121Arg) rs9479297 0.80638
NM_000335.5(SCN5A):c.87A>G (p.Ala29=) rs6599230 0.80621
NM_004360.5(CDH1):c.48+6C>T rs3743674 0.80359
NM_001308093.3(GATA4):c.617-113T>C rs3735819 0.80128
NM_001378452.1(ITPR1):c.7635T>C (p.Thr2545=) rs711631 0.80127
NM_015915.5(ATL1):c.351G>A (p.Glu117=) rs1060197 0.79691
NM_020975.6(RET):c.73+9277T>C rs2435357 0.79636
NM_001367721.1(CASK):c.429+11419A>G rs1023065 0.79628
NM_004525.3(LRP2):c.12280A>G (p.Lys4094Glu) rs2075252 0.79497
NM_017780.4(CHD7):c.2614-45A>G rs6471902 0.79408
NM_173630.4(RTTN):c.5282T>C (p.Phe1761Ser) rs4891392 0.79319
NM_002495.4(NDUFS4):c.312A>G (p.Arg104=) rs31303 0.79100
NM_201525.4(ADGRG1):c.996T>C (p.Thr332=) rs1376041 0.79034
NM_018451.5(CPAP):c.3478-49C>T rs1530876 0.78901
NM_021074.5(NDUFV2):c.86T>C (p.Val29Ala) rs906807 0.78836
NM_000744.7(CHRNA4):c.639T>C (p.Asp213=) rs1044393 0.78554
NM_020975.6(RET):c.135A>G (p.Ala45=) rs1800858 0.78517
NM_020975.6(RET):c.2307G>T (p.Leu769=) rs1800861 0.78487
NM_018136.5(ASPM):c.1922-41G>A rs1332663 0.78254
NM_018136.5(ASPM):c.10331+8A>G rs10754213 0.78251
NM_017780.4(CHD7):c.4533+46A>G rs7844902 0.78245
NM_018136.5(ASPM):c.3579T>A (p.Ser1193=) rs4915337 0.78235
NM_000091.5(COL4A3):c.145-99C>T rs7579991 0.77970
NM_001103.4(ACTN2):c.877-8C>G rs2288601 0.77884
NM_001378373.1(MBL2):c.378C>G (p.Leu126=) rs930507 0.77778
NM_006796.3(AFG3L2):c.1650A>G (p.Glu550=) rs11553521 0.77624
NM_025099.6(CTC1):c.3013A>G (p.Ile1005Val) rs3826543 0.77529
NM_000322.5(PRPH2):c.1013A>G (p.Asp338Gly) rs434102 0.77333
NM_022124.6(CDH23):c.*349A>G rs1867978 0.77194
NM_000384.3(APOB):c.13013G>A (p.Ser4338Asn) rs1042034 0.76948
NM_004836.7(EIF2AK3):c.439-170A>G rs7571971 0.76936
NM_025114.4(CEP290):c.2818-50G>C rs2471532 0.76931
NM_025114.4(CEP290):c.5227-43G>A rs2468245 0.76925
NM_017780.4(CHD7):c.2376+43_2376+48dup rs5891777 0.76905
NM_032119.4(ADGRV1):c.10411G>A (p.Glu3471Lys) rs2366928 0.76852
NM_004415.4(DSP):c.2091A>G (p.Gly697=) rs2076304 0.76849
NM_004836.7(EIF2AK3):c.2110G>T (p.Ala704Ser) rs1805165 0.76783
NM_017780.4(CHD7):c.1665+34G>A rs7836586 0.76770
NM_015046.7(SETX):c.3576T>G (p.Asp1192Glu) rs1185193 0.76694
NM_017757.3(ZNF407):c.6444G>A (p.Thr2148=) rs3744913 0.76676
NM_000601.6(HGF):c.1272-4A>G rs1800793 0.76662
NM_000862.3(HSD3B1):c.1100C>A (p.Thr367Asn) rs1047303 0.76407
NM_016203.4(PRKAG2):c.864+35_864+36insA rs35348247 0.76395
NM_032119.4(ADGRV1):c.2367+8C>T rs2366773 0.76168
NM_018136.5(ASPM):c.441+14C>T rs1571964 0.76088
NM_001614.5(ACTG1):c.918C>T (p.Tyr306=) rs1139405 0.75861
NM_015046.7(SETX):c.1077T>C (p.Tyr359=) rs9411449 0.75774
NM_014630.3(ZNF592):c.2238A>G (p.Gln746=) rs2241645 0.75696
NM_001994.3(F13B):c.344G>A (p.Arg115His) rs6003 0.75658
NM_001372574.1(ATXN2):c.42G>A (p.Gln14=) rs4098854 0.75596
NM_000379.4(XDH):c.3276+12A>G rs1366813 0.75380
NM_013339.4(ALG6):c.911C>T (p.Ser304Phe) rs4630153 0.75355
NM_000217.3(KCNA1):c.1440T>A (p.Thr480=) rs4766309 0.75219
NM_001378615.1(CC2D2A):c.1764+45T>G rs1558572 0.75139
NM_014324.6(AMACR):c.829G>A (p.Glu277Lys) rs2278008 0.75062
NM_001358921.2(COQ2):c.744T>C (p.Asp248=) rs6535454 0.74903
NM_018136.5(ASPM):c.849C>T (p.Ser283=) rs6677082 0.74886
NM_152783.5(D2HGDH):c.292+28T>G rs62191977 0.74780
NM_020227.4(PRDM9):c.2042C>G (p.Thr681Ser) rs6875787 0.74556
NM_001385875.1(ZFYVE27):c.413G>T (p.Gly138Val) rs10882993 0.74523
NM_014832.5(TBC1D4):c.2455G>A (p.Val819Ile) rs1062087 0.74406
NM_032119.4(ADGRV1):c.3279G>T (p.Leu1093Phe) rs2366777 0.74245
NM_002617.4(PEX10):c.291A>G (p.Thr97=) rs2494598 0.74152
NM_032119.4(ADGRV1):c.7751A>G (p.Asn2584Ser) rs1878878 0.74010
NM_004168.4(SDHA):c.891T>C (p.Pro297=) rs1126417 0.74006
NM_014324.6(AMACR):c.602T>C (p.Leu201Ser) rs2287939 0.73966
NM_000271.5(NPC1):c.1926G>C (p.Met642Ile) rs1788799 0.73957
NM_001165963.4(SCN1A):c.2292T>C (p.Val764=) rs6432860 0.73885
NM_001165963.4(SCN1A):c.3199G>A (p.Ala1067Thr) rs2298771 0.73872
NM_032119.4(ADGRV1):c.5851G>A (p.Val1951Ile) rs4916684 0.73682
NM_001163809.2(WDR81):c.4971A>G (p.Leu1657=) rs3809872 0.73659
NM_173630.4(RTTN):c.376T>G (p.Ser126Ala) rs3911730 0.73528
NM_014336.5(AIPL1):c.651A>G (p.Pro217=) rs2292546 0.73525
NM_000179.3(MSH6):c.3802-40C>G rs3136367 0.73398
NM_138694.4(PKHD1):c.8798-19A>C rs1326605 0.73187
NM_001173990.3(TMEM216):c.*558G>A rs7607 0.73129
NM_022336.4(EDAR):c.1056C>T (p.Cys352=) rs12623957 0.73040
NM_032119.4(ADGRV1):c.9907-35A>C rs7723259 0.72915
NM_001130438.3(SPTAN1):c.2560+47C>T rs4837284 0.72327
NM_007078.3(LDB3):c.-24+8T>C rs2803558 0.72185
NM_000152.5(GAA):c.2338G>A (p.Val780Ile) rs1126690 0.72050
NM_000525.4(KCNJ11):c.67A>G (p.Lys23Glu) rs5219 0.72048
NM_000110.4(DPYD):c.85= (p.Cys29=) rs1801265 0.72034
NM_000240.4(MAOA):c.891G>T (p.Arg297=) rs6323 0.71997
NM_000152.5(GAA):c.324T>C (p.Cys108=) rs1800300 0.71989
NM_000352.6(ABCC8):c.4105G>T (p.Ala1369Ser) rs757110 0.71935
NM_000152.5(GAA):c.1327-18A>G rs2278619 0.71811
NM_001130438.3(SPTAN1):c.6280-27C>T rs3737308 0.71634
NM_004560.4(ROR2):c.2455G>A (p.Val819Ile) rs10761129 0.71630
NM_000552.5(VWF):c.4641T>C (p.Thr1547=) rs216310 0.71518
NM_006297.3(XRCC1):c.1196A>G (p.Gln399Arg) rs25487 0.71503
NM_000552.5(VWF):c.4141A>G (p.Thr1381Ala) rs216311 0.71493
NM_000352.6(ABCC8):c.2390+123C>T rs4148631 0.71455
NM_000352.6(ABCC8):c.2390+93C>T rs4148630 0.71434
NM_018249.6(CDK5RAP2):c.5579-34G>C rs2297457 0.71354
NM_000069.3(CACNA1S):c.1828-5T>C rs1998721 0.71016
NM_018249.6(CDK5RAP2):c.4618G>C (p.Val1540Leu) rs4837768 0.70962
NM_000525.4(KCNJ11):c.1009G>A (p.Val337Ile) rs5215 0.70936
NM_025136.4(OPA3):c.231T>C (p.Ala77=) rs3826860 0.70508
NM_006005.3(WFS1):c.2565A>G (p.Ser855=) rs1046316 0.70506
NM_004544.4(NDUFA10):c.105A>G (p.Lys35=) rs2083411 0.70392
NM_004836.7(EIF2AK3):c.497A>G (p.Gln166Arg) rs13045 0.70332
NM_001163809.2(WDR81):c.5451A>G (p.Thr1817=) rs11549259 0.69948
NM_025225.3(PNPLA3):c.1300A>G (p.Lys434Glu) rs2294918 0.69901
NM_001130987.2(DYSF):c.1881T>C (p.Asp627=) rs2303596 0.69760
NM_024596.5(MCPH1):c.228G>T (p.Val76=) rs2305022 0.69651
NM_001276345.2(TNNT2):c.348C>T (p.Ile116=) rs3729547 0.69444
NC_000001.11:g.206773062T>G rs1800872 0.69428
NM_001130987.2(DYSF):c.2637A>T (p.Ser879=) rs2288355 0.69367
NM_133259.4(LRPPRC):c.246G>A (p.Gln82=) rs6741066 0.69341
NM_006013.5(RPL10):c.605= (p.Ser202=) rs4909 0.69154
NM_001365536.1(SCN9A):c.444A>G (p.Pro148=) rs9646771 0.69145
NM_001378615.1(CC2D2A):c.3183-8T>C rs13121363 0.69106
NM_001164508.2(NEB):c.3081A>T (p.Lys1027Asn) rs6735208 0.69087
NM_001999.4(FBN2):c.5675-9C>T rs27713 0.68788
NM_001378615.1(CC2D2A):c.3288+41A>C rs13116304 0.68417
NM_002185.5(IL7R):c.197T>C (p.Ile66Thr) rs1494558 0.68368
NM_016529.6(ATP8A2):c.1683C>T (p.Phe561=) rs6491066 0.68336
NM_006005.3(WFS1):c.684C>G (p.Arg228=) rs1801213 0.68223
NM_006796.3(AFG3L2):c.1389G>A (p.Leu463=) rs11080572 0.68221
NM_015046.7(SETX):c.3754G>A (p.Gly1252Arg) rs1183768 0.68136
NM_001378452.1(ITPR1):c.2007G>A (p.Lys669=) rs2306875 0.68068
NM_015046.7(SETX):c.4156A>G (p.Ile1386Val) rs543573 0.68049
NM_001164508.2(NEB):c.771T>C (p.Ala257=) rs4611637 0.67903
NM_024596.5(MCPH1):c.940G>C (p.Asp314His) rs930557 0.67747
NM_014251.3(SLC25A13):c.328+6A>G rs6957975 0.67687
NM_173495.3(PTCHD1):c.858T>C (p.Cys286=) rs5926304 0.67668
NM_006031.6(PCNT):c.7914-16C>T rs2839257 0.67468
NM_001127222.2(CACNA1A):c.6657T>C (p.His2219=) rs16051 0.67380
NM_001486.4(GCKR):c.1337T>C (p.Leu446Pro) rs1260326 0.67353
NM_002156.5(HSPD1):c.273A>G (p.Lys91=) rs8539 0.67024
NM_000057.4(BLM):c.3359-121_3359-120insA rs11377009 0.67014
NM_006031.6(PCNT):c.720+17T>C rs9982233 0.66904
NM_032531.4(KIRREL3):c.1995C>T (p.Gly665=) rs948052 0.66811
NM_001165963.4(SCN1A):c.1212A>G (p.Val404=) rs7580482 0.66695
NM_001184.4(ATR):c.5898+25T>G rs7620648 0.66679
NM_000709.4(BCKDHA):c.1221A>G (p.Leu407=) rs4674 0.66668
NM_000170.3(GLDC):c.*7G>C rs2228098 0.66615
NM_004560.4(ROR2):c.733A>G (p.Thr245Ala) rs10820900 0.66416
NM_001164508.2(NEB):c.4471G>A (p.Val1491Met) rs7426114 0.66326
NM_001164508.2(NEB):c.18305G>C (p.Arg6102Thr) rs2288210 0.66275
NM_000505.4(F12):c.-4T>C rs1801020 0.66266
NM_001384474.1(LOXHD1):c.4530+107A>G rs1450425 0.66249
NM_015702.3(MMADHC):c.479-22G>C rs12232959 0.66236
NM_201384.3(PLEC):c.2457+6C>T rs11780911 0.66214
NM_000108.5(DLD):c.439-7T>C rs10263341 0.65991
NM_144599.5(NIPA1):c.441A>G (p.Thr147=) rs11263683 0.65973
NM_000546.6(TP53):c.74+38C>G rs1642785 0.65950
NM_002495.4(NDUFS4):c.12G>C (p.Val4=) rs2279516 0.65820
NM_018249.6(CDK5RAP2):c.5578+29C>G rs4410972 0.65760
NM_000152.5(GAA):c.596A>G (p.His199Arg) rs1042393 0.65667
NM_000152.5(GAA):c.547-4C>G rs3816256 0.65665
NM_000152.5(GAA):c.668G>A (p.Arg223His) rs1042395 0.65654
NM_000709.4(BCKDHA):c.972C>T (p.Phe324=) rs284652 0.65604
NM_000152.5(GAA):c.955+12G>A rs2252455 0.65487
NM_213599.3(ANO5):c.*1286G>T rs7925081 0.65457
NM_000152.5(GAA):c.1203G>A (p.Gln401=) rs1800304 0.65453
NM_024006.6(VKORC1):c.283+837T>C rs2359612 0.65429
NM_021871.2(FGA):c.-58A>G rs2070011 0.65406
NM_006392.4(NOP56):c.1035T>C (p.Thr345=) rs8958 0.65388
NM_000240.4(MAOA):c.1410T>C (p.Asp470=) rs1137070 0.65298
NM_024334.3(TMEM43):c.*115T>C rs1043943 0.65275
NM_001018005.2(TPM1):c.453C>A (p.Ala151=) rs1071646 0.65141
NM_153704.6(TMEM67):c.1066-3C>T rs3097427 0.65125
NM_022893.4(BCL11A):c.386-24278G>A rs11886868 0.65121
NM_004700.4(KCNQ4):c.777T>C (p.Ala259=) rs4660468 0.65097
NM_000101.4(CYBA):c.214T>C (p.Tyr72His) rs4673 0.64973
NM_001875.5(CPS1):c.2679C>G (p.Gly893=) rs2287599 0.64925
NM_004628.5(XPC):c.2815C>A (p.Gln939Lys) rs2228001 0.64910
NM_153704.6(TMEM67):c.1810A>G (p.Ile604Val) rs3134031 0.64845
NM_182961.4(SYNE1):c.10191C>A (p.Gly3397=) rs4407724 0.64816
NM_001278064.2(GRM1):c.3168T>G (p.Gly1056=) rs6923864 0.64620
NM_207346.3(TSEN54):c.285+32C>A rs7218675 0.64612
NM_000186.4(CFH):c.1204C>T (p.His402Tyr) rs1061170 0.64500
NM_020822.3(KCNT1):c.2427G>A (p.Thr809=) rs914428 0.64398
NM_001164508.2(NEB):c.24433G>C (p.Ala8145Pro) rs7575451 0.64120
NM_006005.3(WFS1):c.461-9A>G rs10010131 0.64017
NM_001127222.2(CACNA1A):c.1182G>A (p.Glu394=) rs2248069 0.64010
NM_006005.3(WFS1):c.1500C>T (p.Asn500=) rs1801214 0.63787
NM_001184.4(ATR):c.1776T>A (p.Gly592=) rs2227930 0.63717
NM_001365536.1(SCN9A):c.174G>A (p.Gln58=) rs6432901 0.63691
NM_005670.4(EPM2A):c.159C>G (p.Ala53=) rs2235482 0.63686
NM_032444.4(SLX4):c.4500T>C (p.Asn1500=) rs3810812 0.63612
NM_000709.4(BCKDHA):c.995+49G>A rs284654 0.63462
NM_001358921.2(COQ2):c.46G>T (p.Val16Leu) rs6818847 0.63302
NM_000124.4(ERCC6):c.135C>G (p.Leu45=) rs2228524 0.63279
NM_174889.5(NDUFAF2):c.60G>A (p.Lys20=) rs158921 0.63042
NM_001184.4(ATR):c.632T>C (p.Met211Thr) rs2227928 0.62531
NM_001195248.2(APTX):c.484-13G>T rs10123944 0.62521
NM_182961.4(SYNE1):c.25038T>C (p.Arg8346=) rs2256135 0.62436
NM_024753.5(TTC21B):c.601G>A (p.Val201Met) rs1432273 0.62402
NM_005013.2(NUCB2):c.-406C>G rs214088 0.62269
NM_001042413.2(GLIS3):c.1367C>A (p.Pro456Gln) rs6415788 0.62075
NM_000352.6(ABCC8):c.2820+17A>G rs2106865 0.62022
NM_001348946.2(ABCB1):c.1236T>C (p.Gly412=) rs1128503 0.61867
NM_198578.4(LRRK2):c.7190T>C (p.Met2397Thr) rs3761863 0.61824
NM_000243.3(MEFV):c.942C>T (p.Arg314=) rs224213 0.61804
NM_021922.3(FANCE):c.248+58A>C rs9470029 0.61786
NM_005055.5(RAPSN):c.456T>C (p.Tyr152=) rs7111873 0.61686
NM_001330260.2(SCN8A):c.4509T>C (p.Pro1503=) rs303815 0.61642
NM_004525.3(LRP2):c.12628A>C (p.Ile4210Leu) rs4667591 0.61608
NM_005055.5(RAPSN):c.1143T>C (p.Pro381=) rs7126210 0.61595
NM_014271.4(IL1RAPL1):c.-19G>A rs6526806 0.61514
NM_004247.4(EFTUD2):c.426+8G>A rs2289677 0.61459
NM_004525.3(LRP2):c.2025C>T (p.Val675=) rs830994 0.61350
NM_000018.4(ACADVL):c.478-106del rs370388543 0.61332
NM_032043.3(BRIP1):c.2755T>C (p.Ser919Pro) rs4986764 0.61316
NM_001308093.3(GATA4):c.1000+56C>A rs804280 0.61291
NM_018344.6(SLC29A3):c.473C>T (p.Ser158Phe) rs780668 0.61038
NM_001365088.1(SLC12A6):c.1492+45C>T rs10851964 0.61029
NM_001372574.1(ATXN2):c.-91C>T rs695872 0.61029
NM_000540.3(RYR1):c.594A>G (p.Leu198=) rs2229139 0.60966
NM_001372574.1(ATXN2):c.-162C>G rs695871 0.60874
NM_014336.5(AIPL1):c.300A>G (p.Leu100=) rs8075035 0.60839
NM_152783.5(D2HGDH):c.1307-24A>G rs6756901 0.60408
NM_014694.4(ADAMTSL2):c.2313A>G (p.Val771=) rs1064975 0.60212
NM_000660.7(TGFB1):c.29C>T (p.Pro10Leu) rs1800470 0.60129
NM_001330260.2(SCN8A):c.5472C>A (p.Pro1824=) rs60637 0.60091
NM_016816.4(OAS1):c.1039-1G>A rs10774671 0.60031
NM_000231.3(SGCG):c.705T>C (p.Leu235=) rs1800353 0.60006
NM_004525.3(LRP2):c.13113C>T (p.Ile4371=) rs990626 0.59977
NM_018075.5(ANO10):c.1385G>A (p.Arg462Gln) rs3772165 0.59837
NM_005198.5(CHKB):c.333+10G>T rs86337 0.59693
NM_001875.5(CPS1):c.1032C>T (p.Thr344=) rs2229589 0.59558
NM_032737.4(LMNB2):c.1416T>C (p.Gly472=) rs11084940 0.59479
NM_001378452.1(ITPR1):c.7689G>A (p.Lys2563=) rs901854 0.59379
NM_181882.3(PRX):c.2645T>C (p.Val882Ala) rs268671 0.59048
NM_000078.3(CETP):c.1264G>A (p.Val422Ile) rs5882 0.59015
NM_000742.4(CHRNA2):c.373A>G (p.Thr125Ala) rs891398 0.58886
NM_000243.3(MEFV):c.*267G>A rs2741918 0.58813
NM_006005.3(WFS1):c.2433G>A (p.Lys811=) rs1046314 0.58808
NM_015080.4(NRXN2):c.531C>T (p.Gly177=) rs2518907 0.58725
NM_024824.5(ZC3H14):c.1023-4T>G rs1469602 0.58636
NM_000252.3(MTM1):c.1260+3G>A rs222410 0.58566
NM_000123.4(ERCC5):c.138T>C (p.His46=) rs1047768 0.58386
NM_001048166.1(STIL):c.257C>T (p.Ala86Val) rs3125630 0.58260
NM_024884.3(L2HGDH):c.53T>G (p.Leu18Arg) rs2275591 0.58246
NM_000243.3(MEFV):c.*245G>A rs2741919 0.58215
NM_005751.5(AKAP9):c.-124G>C rs4727267 0.58166
NM_006517.5(SLC16A2):c.1399+43T>G rs5937843 0.57946
NM_001348946.2(ABCB1):c.3435T>C (p.Ile1145=) rs1045642 0.57896
NM_000152.5(GAA):c.2553G>A (p.Gly851=) rs1042397 0.57872
NM_024884.3(L2HGDH):c.159C>T (p.Ile53=) rs2297995 0.57872
NM_007325.5(GRIA3):c.1200T>C (p.Asn400=) rs502434 0.57798
NM_001032382.2(PQBP1):c.180-3C>T rs741932 0.57792
NM_182961.4(SYNE1):c.10866T>C (p.Ser3622=) rs9397102 0.57769
NM_000106.6(CYP2D6):c.1457G>C (p.Ser486Thr) rs1135840 0.57718
NM_006005.3(WFS1):c.1185C>T (p.Val395=) rs1801206 0.57629
NM_014141.6(CNTNAP2):c.3723G>A (p.Ala1241=) rs9648691 0.57506
NM_000053.4(ATP7B):c.3419T>C (p.Val1140Ala) rs1801249 0.57256
NM_018055.5(NODAL):c.494A>G (p.His165Arg) rs1904589 0.57001
NM_181882.3(PRX):c.2655T>C (p.Pro885=) rs268672 0.56968
NM_006059.4(LAMC3):c.219T>G (p.His73Gln) rs3739512 0.56936
NM_001278064.2(GRM1):c.2977T>C (p.Ser993Pro) rs6923492 0.56886
NM_000492.4(CFTR):c.1408G>A (p.Val470Met) rs213950 0.56732
NM_003839.4(TNFRSF11A):c.575C>T (p.Ala192Val) rs1805034 0.56701
NM_001365536.1(SCN9A):c.1287T>A (p.Arg429=) rs6747673 0.56670
NM_030665.4(RAI1):c.1992G>A (p.Pro664=) rs8067439 0.56541
NM_000053.4(ATP7B):c.2855G>A (p.Arg952Lys) rs732774 0.56484
NM_001278.5(CHUK):c.802G>A (p.Val268Ile) rs2230804 0.56266
NM_001482.3(GATM):c.1252T>C (p.Leu418=) rs1145086 0.56264
NM_032409.3(PINK1):c.*265G>T rs512550 0.56246
NM_001160372.4(TRAPPC9):c.207T>C (p.Gly69=) rs3735801 0.55959
NM_001160372.4(TRAPPC9):c.288T>C (p.Phe96=) rs3735802 0.55845
NM_000322.5(PRPH2):c.582-67T>A rs3818086 0.55830
NM_182961.4(SYNE1):c.12180G>T (p.Glu4060Asp) rs4645434 0.55815
NM_152783.5(D2HGDH):c.685-9T>C rs4234097 0.55730
NM_001164508.2(NEB):c.21585A>G (p.Thr7195=) rs4664475 0.55659
NM_001072.4(UGT1A6):c.862-10021T>G rs4124874 0.55614
NM_020921.4(NIN):c.5637G>A (p.Gln1879=) rs11376 0.55468
NM_003194.5(TBP):c.771T>C (p.Asn257=) rs1042327 0.55343
NM_001069.3(TUBB2A):c.564T>G (p.Ser188=) rs17849443 0.55272
NM_001278064.2(GRM1):c.3495C>A (p.Pro1165=) rs9373491 0.55222
NM_004525.3(LRP2):c.2460A>G (p.Thr820=) rs2241190 0.54926
NM_181486.4(TBX5):c.663+36G>T rs2236017 0.54802
NM_199161.5(SAA1):c.209C>T (p.Ala70Val) rs1136743 0.54798
NM_020999.4(NEUROG3):c.596T>C (p.Phe199Ser) rs4536103 0.54682
NM_000053.4(ATP7B):c.2495A>G (p.Lys832Arg) rs1061472 0.54674
NM_000796.6(DRD3):c.25G>A (p.Gly9Ser) rs6280 0.54577
NM_001273.5(CHD4):c.417G>T (p.Glu139Asp) rs1639122 0.54444
NM_012233.3(RAB3GAP1):c.2265T>C (p.Phe755=) rs17261772 0.54411
NM_015559.3(SETBP1):c.540+7405G>A rs663651 0.54347
NM_000179.3(MSH6):c.3556+146G>A rs7562048 0.54192
NM_201384.3(PLEC):c.11886A>G (p.Thr3962=) rs6558406 0.54165
NM_024809.5(TCTN2):c.1128T>C (p.Pro376=) rs7966867 0.54127
NM_201384.3(PLEC):c.13461T>C (p.Ala4487=) rs7014582 0.54076
NM_006517.5(SLC16A2):c.97T>C (p.Ser33Pro) rs6647476 0.54054
NM_001361.5(DHODH):c.19A>C (p.Lys7Gln) rs3213422 0.54012
NM_016042.4(EXOSC3):c.498G>A (p.Gln166=) rs7158 0.53959
NM_002529.4(NTRK1):c.1887C>T (p.Ala629=) rs6337 0.53946
NM_201384.3(PLEC):c.11628A>G (p.Pro3876=) rs7822511 0.53938
NM_020921.4(NIN):c.1128T>C (p.Val376=) rs17793018 0.53862
NM_002769.5(PRSS1):c.738T>C (p.Asn246=) rs6667 0.53816
NM_017777.4(MKS1):c.858+9A>G rs3826300 0.53797
NM_004525.3(LRP2):c.3069A>G (p.Thr1023=) rs831043 0.53755
NM_000053.4(ATP7B):c.3903+6C>T rs2282057 0.53754
NM_003619.4(PRSS12):c.1281A>G (p.Gln427=) rs2292597 0.53714
NM_004993.6(ATXN3):c.492C>T (p.Val164=) rs16999141 0.53608
NM_198525.3(KIF7):c.3048G>A (p.Ser1016=) rs9672286 0.53592
NM_001163809.2(WDR81):c.4743A>G (p.Pro1581=) rs3809871 0.53472
NM_032119.4(ADGRV1):c.10161+26G>T rs4916815 0.53367
NM_201384.3(PLEC):c.7960T>C (p.Ser2654Pro) rs7833924 0.53335
NM_176817.5(TAS2R38):c.785= (p.Ala262=) rs1726866 0.53241
NM_213599.3(ANO5):c.*496A>G rs10766930 0.53080
NM_001083962.2(TCF4):c.789+23C>T rs1788027 0.53030
NM_001126121.2(SLC25A19):c.819G>A (p.Leu273=) rs4789164 0.52943
NM_005411.5(SFTPA1):c.148C>G (p.Leu50Val) rs1136450 0.52928
NM_004822.3(NTN1):c.1018+5374C>T rs4791331 0.52844
NM_201384.3(PLEC):c.12813A>G (p.Ser4271=) rs6558405 0.52745
NM_001378615.1(CC2D2A):c.1765-24A>G rs1861044 0.52710
NM_003097.6(SNRPN):c.-89T>C rs705 0.52684
NM_033028.5(BBS4):c.1061T>C (p.Ile354Thr) rs2277598 0.52665
NM_182961.4(SYNE1):c.3104T>C (p.Val1035Ala) rs214976 0.52553
NM_003331.5(TYK2):c.1669+7T>C rs280519 0.52527
NM_198525.3(KIF7):c.3013G>A (p.Gly1005Arg) rs12900805 0.52523
NM_032119.4(ADGRV1):c.11682C>T (p.Pro3894=) rs2438349 0.52519
NM_014336.5(AIPL1):c.277-10A>C rs12453262 0.52383
NM_000587.4(C7):c.1166G>C (p.Ser389Thr) rs1063499 0.52230
NM_198525.3(KIF7):c.2873G>T (p.Ser958Ile) rs3803530 0.52052
NM_024407.5(NDUFS7):c.68C>T (p.Pro23Leu) rs1142530 0.51987
NM_004134.7(HSPA9):c.1933C>T (p.Leu645=) rs10117 0.51956
NM_001953.5(TYMP):c.972C>T (p.Ala324=) rs131804 0.51945
NM_201384.3(PLEC):c.3965A>G (p.His1322Arg) rs55895668 0.51907
NM_198129.4(LAMA3):c.9211-21C>T rs2288592 0.51885
NM_178161.3(PTF1A):c.787T>C (p.Ser263Pro) rs7918487 0.51842
NM_194255.4(SLC19A1):c.80A>G (p.His27Arg) rs1051266 0.51696
NM_000146.4(FTL):c.163T>C (p.Leu55=) rs2230267 0.51379
NM_000257.4(MYH7):c.189C>T (p.Thr63=) rs2069540 0.51373
NM_000552.5(VWF):c.1451A>G (p.His484Arg) rs1800378 0.51348
NM_000789.4(ACE):c.3387T>C (p.Phe1129=) rs4362 0.51177
NM_001931.5(DLAT):c.953T>C (p.Val318Ala) rs627441 0.51169
NM_001136219.3(FCGR2A):c.500A>G (p.His167Arg) rs1801274 0.50935
NM_024884.3(L2HGDH):c.703+12T>C rs12433038 0.50897
NM_001415.4(EIF2S3):c.99C>T (p.His33=) rs36018672 0.50815
NM_001103.4(ACTN2):c.*111A>G rs1051251 0.50750
NM_004056.6(CA8):c.327A>G (p.Glu109=) rs7464181 0.50702
NM_000069.2(CACNA1S):c.-476G>A rs2281845 0.50680
NM_000104.4(CYP1B1):c.1294= (p.Leu432=) rs1056836 0.50585
NM_001142800.2(EYS):c.1809C>T (p.Val603=) rs9345601 0.50550
NM_004525.3(LRP2):c.3660A>G (p.Ala1220=) rs831042 0.50520
NM_201384.3(PLEC):c.11127T>C (p.Ala3709=) rs7819099 0.50384
NM_182961.4(SYNE1):c.1047+4T>A rs9397106 0.50379
NM_000217.3(KCNA1):c.804G>C (p.Thr268=) rs2227910 0.50318
NM_022464.5(SIL1):c.153A>G (p.Thr51=) rs3088052 0.50252
NM_138959.3(VANGL1):c.*5633T>G rs4348723 0.50000
NM_005045.4(RELN):c.8046T>C (p.His2682=) rs2229864 0.49951
NM_001278064.2(GRM1):c.2793G>A (p.Lys931=) rs2942 0.49950
NM_000843.4(GRM6):c.1227C>T (p.Tyr409=) rs2645339 0.49941
NM_173086.5(KRT6C):c.1257A>C (p.Ala419=) rs382367 0.49934
NM_024809.5(TCTN2):c.1099+19T>C rs7137946 0.49905
NM_024757.5(EHMT1):c.1089T>C (p.Gly363=) rs1129768 0.49865
NM_024809.5(TCTN2):c.891+22T>C rs7302449 0.49786
NM_001004482.1(OR13C5):c.244C>T (p.Leu82=) rs80227456 0.49704
NM_030928.4(CDT1):c.784A>G (p.Thr262Ala) rs480727 0.49695
NM_005045.4(RELN):c.578-3T>C rs607755 0.49658
NM_000092.5(COL4A4):c.4207T>C (p.Ser1403Pro) rs3752895 0.49558
NM_001378454.1(ALMS1):c.2190C>T (p.Phe730=) rs7598901 0.49457
NM_015080.4(NRXN2):c.2745C>T (p.Ile915=) rs526338 0.49435
NM_031433.4(MFRP):c.-88C>T rs883245 0.49359
NM_000383.4(AIRE):c.1578T>C (p.Asp526=) rs1133779 0.49286
NM_000489.6(ATRX):c.2785= (p.Glu929=) rs3088074 0.49116
NM_000271.5(NPC1):c.2572A>G (p.Ile858Val) rs1805082 0.48960
NM_001303.4(COX10):c.476G>A (p.Arg159Gln) rs2072279 0.48875
NM_014165.4(NDUFAF4):c.430T>C (p.Leu144=) rs6684 0.48735
NM_001715.3(BLK):c.330T>C (p.Ser110=) rs3816668 0.48633
NM_000243.3(MEFV):c.495C>A (p.Ala165=) rs224223 0.48450
NM_004572.3(PKP2):c.-116C>T rs187291890 0.48449
NM_025137.4(SPG11):c.1388T>C (p.Phe463Ser) rs3759871 0.48431
NM_000448.3(RAG1):c.746A>G (p.His249Arg) rs3740955 0.48330
NM_006059.4(LAMC3):c.1932C>T (p.Ser644=) rs12349966 0.48282
NM_000404.4(GLB1):c.29C>T (p.Pro10Leu) rs7637099 0.48281
NM_002693.3(POLG):c.3643+180G>A rs3176238 0.48246
NM_000249.4(MLH1):c.1039-29A>T rs6771325 0.48243
NM_024577.4(SH3TC2):c.1194T>C (p.Gly398=) rs1432793 0.48230
NM_016816.4(OAS1):c.484G>A (p.Gly162Ser) rs1131454 0.47874
NM_015386.3(COG4):c.2142G>A (p.Ser714=) rs11054 0.47870
NM_001130987.2(DYSF):c.4062C>A (p.Ile1354=) rs2303606 0.47852
NM_018344.6(SLC29A3):c.52A>G (p.Arg18Gly) rs2277257 0.47837
NM_001379500.1(COL18A1):c.3694-33A>C rs56335679 0.47800
NM_006059.4(LAMC3):c.1631A>G (p.Glu544Gly) rs10901333 0.47711
NM_001142633.3(PIK3R5):c.1075T>C (p.Leu359=) rs381309 0.47682
NM_001142633.3(PIK3R5):c.837C>T (p.His279=) rs394811 0.47651
NM_000352.6(ABCC8):c.207T>C (p.Pro69=) rs1048099 0.47531
NM_013266.4(CTNNA3):c.1787G>A (p.Ser596Asn) rs4548513 0.47526
NM_001386140.1(MTTP):c.453T>C (p.Gly151=) rs991811 0.47516
NM_014832.5(TBC1D4):c.2901C>T (p.Leu967=) rs2297208 0.47333
NM_000243.3(MEFV):c.306T>C (p.Asp102=) rs224225 0.47275
NM_001386140.1(MTTP):c.891C>G (p.His297Gln) rs2306985 0.47212
NM_000260.4(MYO7A):c.47T>C (p.Leu16Ser) rs1052030 0.47208
NM_001374828.1(ARID1B):c.2248-35G>A rs3734440 0.47115
NM_030928.4(CDT1):c.1587C>G (p.Leu529=) rs572275 0.47081
NM_199242.3(UNC13D):c.2599A>G (p.Lys867Glu) rs1135688 0.47045
NM_000217.3(KCNA1):c.684T>C (p.Cys228=) rs1048500 0.47043
NM_033004.4(NLRP1):c.3550A>G (p.Met1184Val) rs11651270 0.47015
NM_000092.5(COL4A4):c.3979G>A (p.Val1327Met) rs2229813 0.46878
NM_033360.4(KRAS):c.*298T>G rs712 0.46850
NM_173500.4(TTBK2):c.23T>C (p.Leu8Pro) rs6493068 0.46763
NM_006446.5(SLCO1B1):c.571T>C (p.Leu191=) rs4149057 0.46746
NM_000352.6(ABCC8):c.579+14C>T rs2301703 0.46493
NM_000553.6(WRN):c.3222G>T (p.Leu1074Phe) rs1801195 0.46398
NM_000135.4(FANCA):c.2426G>A (p.Gly809Asp) rs7195066 0.46389
NM_001297.5(CNGB1):c.1122-15C>T rs2303778 0.46316
NM_001365088.1(SLC12A6):c.271+41G>C rs347836 0.46169
NM_000553.6(WRN):c.3138+7G>A rs2737335 0.46167
NM_006009.4(TUBA1A):c.288A>G (p.Lys96=) rs1056875 0.46100
NM_001160372.4(TRAPPC9):c.411C>T (p.Asn137=) rs3735803 0.45974
NM_207352.4(CYP4V2):c.64C>G (p.Leu22Val) rs1055138 0.45965
NM_000271.5(NPC1):c.2793C>T (p.Asn931=) rs1140458 0.45824
NM_014053.4(FLVCR1):c.154G>C (p.Ala52Pro) rs11120047 0.45814
NM_014239.4(EIF2B2):c.*180G>C rs4556 0.45760
NM_001379500.1(COL18A1):c.3694-32C>A rs55690336 0.45664
NM_000433.4(NCF2):c.542A>G (p.Lys181Arg) rs2274064 0.45656
NM_024596.5(MCPH1):c.2215-19A>G rs2936531 0.45478
NM_153026.3(PRICKLE1):c.1902T>C (p.Ser634=) rs3747562 0.45408
NM_004415.4(DSP):c.726+219T>G rs2076295 0.45371
NM_001482.3(GATM):c.330A>T (p.Gln110His) rs1288775 0.45330
NM_000511.6(FUT2):c.461G>A (p.Trp154Ter) rs601338 0.45281
NM_001244008.2(KIF1A):c.991T>C (p.Leu331=) rs1063353 0.45235
NM_001042472.3(ABHD12):c.1068T>C (p.Asp356=) rs10966 0.45223
NM_032119.4(ADGRV1):c.17626G>A (p.Val5876Ile) rs2247870 0.45079
NM_004525.3(LRP2):c.10503G>A (p.Gln3501=) rs2229265 0.45057
NM_000352.6(ABCC8):c.4120-27T>C rs739689 0.45032
NM_002454.3(MTRR):c.66A>G (p.Ile22Met) rs1801394 0.44938
NM_000492.4(CFTR):c.2562T>G (p.Thr854=) rs1042077 0.44737
NM_000553.6(WRN):c.2361G>T (p.Leu787=) rs1800392 0.44644
NM_015046.7(SETX):c.7759A>G (p.Ile2587Val) rs1056899 0.44635
NM_001267550.2(TTN):c.31864G>A (p.Gly10622Arg) rs2244492 0.44551
NM_001367624.2(ZNF469):c.10972G>C (p.Glu3658Gln) rs1105066 0.44478
NM_000312.4(PROC):c.-50A>T rs1799810 0.44475
NM_001370466.1(NOD2):c.*397A>C rs3135499 0.44475
NM_000754.4(COMT):c.186C>T (p.His62=) rs4633 0.44464
NM_001355436.2(SPTB):c.2154A>C (p.Ile718=) rs229591 0.44391
NM_000525.4(KCNJ11):c.*215C>T rs5210 0.44390
NM_000335.5(SCN5A):c.*123A>G rs7429945 0.44373
NM_000335.5(SCN5A):c.*963C>T rs4073796 0.44325
NM_000335.5(SCN5A):c.5454T>C (p.Asp1818=) rs1805126 0.44288
NM_000352.6(ABCC8):c.1686C>T (p.His562=) rs1799857 0.44260
NM_002474.3(MYH11):c.5439G>A (p.Lys1813=) rs1050162 0.44260
NM_002474.3(MYH11):c.5478G>A (p.Leu1826=) rs1050163 0.44235
NM_024596.5(MCPH1):c.2282C>T (p.Ala761Val) rs1057090 0.44044
NM_002075.4(GNB3):c.825C>T (p.Ser275=) rs5443 0.43936
NM_001202.6(BMP4):c.455T>C (p.Val152Ala) rs17563 0.43916
NM_001048166.1(STIL):c.2615+27A>G rs2742104 0.43900
NM_006446.5(SLCO1B1):c.597C>T (p.Phe199=) rs2291075 0.43870
NM_000254.3(MTR):c.2044-9C>T rs531027742 0.43868
NM_000754.4(COMT):c.472G>A (p.Val158Met) rs4680 0.43847
NM_030665.4(RAI1):c.269G>C (p.Gly90Ala) rs3803763 0.43727
NM_001129.5(AEBP1):c.3397A>G (p.Lys1133Glu) rs13928 0.43555
NM_030803.7(ATG16L1):c.898A>G (p.Thr300Ala) rs2241880 0.43552
NM_207361.6(FREM2):c.3209T>C (p.Phe1070Ser) rs2496425 0.43515
NM_001161352.2(KCNMA1):c.687C>T (p.Phe229=) rs1131824 0.43499
NM_007347.5(AP4E1):c.487T>C (p.Cys163Arg) rs2306331 0.43405
NM_025074.7(FRAS1):c.2450C>T (p.Ala817Val) rs6835769 0.43159
NM_006005.3(WFS1):c.1832G>A (p.Arg611His) rs734312 0.43085
NM_000257.4(MYH7):c.2967T>C (p.Ile989=) rs7157716 0.43030
NM_014832.5(TBC1D4):c.84C>G (p.Pro28=) rs7327548 0.42989
NM_001042472.3(ABHD12):c.837C>T (p.Arg279=) rs6107027 0.42961
NM_014714.4(IFT140):c.1968T>C (p.Ser656=) rs8048410 0.42936
NM_000214.3(JAG1):c.765C>T (p.Tyr255=) rs1131695 0.42930
NM_014000.3(VCL):c.2388G>A (p.Pro796=) rs767809 0.42862
NM_000103.4(CYP19A1):c.*19C>T rs10046 0.42803
NM_003355.3(UCP2):c.164C>T (p.Ala55Val) rs660339 0.42764
NM_024809.5(TCTN2):c.891+7G>A rs7313032 0.42667
NM_144639.3(UROC1):c.1845C>T (p.Ala615=) rs1687477 0.42662
NM_019892.6(INPP5E):c.1248T>C (p.Thr416=) rs10781542 0.42574
NM_019892.6(INPP5E):c.1284T>C (p.Gly428=) rs10870194 0.42571
NM_000545.8(HNF1A):c.51C>G (p.Leu17=) rs1169289 0.42543
NM_021922.3(FANCE):c.900+39A>G rs13214239 0.42515
NM_001040108.2(MLH3):c.*3148A>G rs108621 0.42508
NM_001355436.2(SPTB):c.1316G>A (p.Ser439Asn) rs229587 0.42494
NM_030665.4(RAI1):c.5601T>C (p.Ile1867=) rs3818717 0.42485
NM_001128148.3(TFRC):c.424G>A (p.Gly142Ser) rs3817672 0.42461
NM_033337.3(CAV3):c.*645A>T rs11476 0.42415
NM_004933.3(CDH15):c.1971A>G (p.Gln657=) rs3815615 0.42410
NM_001177316.2(SLC34A3):c.757T>C (p.Leu253=) rs28407527 0.42407
NM_004525.3(LRP2):c.3054C>A (p.Thr1018=) rs2075249 0.42392
NM_005751.5(AKAP9):c.10426A>C (p.Arg3476=) rs1063243 0.42386
NM_000106.6(CYP2D6):c.1457= (p.Ser486=) rs1135840 0.42282
NM_024809.5(TCTN2):c.765-43A>T rs7298831 0.42250
NM_000335.5(SCN5A):c.*962T>A rs4073797 0.42167
NM_004260.4(RECQL4):c.3236+13C>T rs4244610 0.42104
NM_001253852.3(AP4B1):c.1439T>C (p.Leu480Ser) rs1217401 0.42071
NM_014324.6(AMACR):c.25G>A (p.Val9Met) rs3195676 0.42007
NM_001083961.2(WDR62):c.2147-34G>A rs2301736 0.41985
NM_000834.5(GRIN2B):c.366C>G (p.Pro122=) rs7301328 0.41972
NM_000552.5(VWF):c.1548T>C (p.Tyr516=) rs1800379 0.41956
NM_000053.4(ATP7B):c.1366G>C (p.Val456Leu) rs1801244 0.41941
NM_001355436.2(SPTB):c.300+7T>C rs229581 0.41899
NM_138959.3(VANGL1):c.*4478C>T rs17034226 0.41876
NM_001113378.2(FANCI):c.3906T>C (p.Gly1302=) rs1138465 0.41848
NM_005751.5(AKAP9):c.8665C>T (p.Leu2889=) rs10228334 0.41611
NM_005751.5(AKAP9):c.3504A>G (p.Glu1168=) rs13245393 0.41602
NM_000053.4(ATP7B):c.1216T>G (p.Ser406Ala) rs1801243 0.41549
NM_020975.4(RET):c.-196C>A rs10900297 0.41408
NM_138959.3(VANGL1):c.*5751A>G rs10801933 0.41406
NM_005334.3(HCFC1):c.5859C>T (p.Cys1953=) rs3027875 0.41264
NM_000243.3(MEFV):c.1764G>A (p.Pro588=) rs1231122 0.41230
NM_001377405.1(ATXN7):c.2584G>A (p.Val862Met) rs3774729 0.41208
NM_001355436.2(SPTB):c.4860T>C (p.Ile1620=) rs229592 0.41183
NM_020247.5(COQ8A):c.1716T>C (p.Ser572=) rs3738725 0.41129
NM_000821.7(GGCX):c.974G>A (p.Arg325Gln) rs699664 0.41038
NM_000744.7(CHRNA4):c.1659G>A (p.Ala553=) rs1044397 0.40957
NM_022124.6(CDH23):c.5996C>G (p.Thr1999Ser) rs11592462 0.40879
NM_004608.4(TBX6):c.-49+34G>T rs3809627 0.40816
NM_001002294.3(FMO3):c.472G>A (p.Glu158Lys) rs2266782 0.40810
NM_000249.4(MLH1):c.1668-19A>G rs9876116 0.40808
NM_000552.5(VWF):c.2385T>C (p.Tyr795=) rs1063857 0.40791
NM_005751.5(AKAP9):c.6945+8C>T rs733957 0.40759
NM_004329.3(BMPR1A):c.4C>A (p.Pro2Thr) rs11528010 0.40719
NM_002087.4(GRN):c.*78C>T rs5848 0.40636
NM_006059.4(LAMC3):c.963C>T (p.Ala321=) rs2275131 0.40613
NM_032578.4(MYPN):c.3403C>A (p.Pro1135Thr) rs7079481 0.40601
NM_001355436.2(SPTB):c.4293A>G (p.Arg1431=) rs1626923 0.40570
NM_003072.5(SMARCA4):c.3168+31C>G rs2075021 0.40568
NM_005751.5(AKAP9):c.5778C>T (p.Gly1926=) rs10236397 0.40488
NM_201596.3(CACNB2):c.214-61250G>A rs10828545 0.40469
NM_000744.7(CHRNA4):c.1629C>T (p.Ser543=) rs1044396 0.40465
NM_000553.6(WRN):c.3138+6C>T rs3024239 0.40457
NM_000186.4(CFH):c.184G>A (p.Val62Ile) rs800292 0.40446
NM_031407.7(HUWE1):c.2109A>G (p.Ser703=) rs6638360 0.40138
NM_000287.4(PEX6):c.399G>T (p.Val133=) rs9462858 0.40130
NM_000384.3(APOB):c.1853C>T (p.Ala618Val) rs679899 0.40054
NM_173630.4(RTTN):c.734A>G (p.Lys245Arg) rs17082206 0.40022
NM_000203.5(IDUA):c.60G>A (p.Ala20=) rs10902762 0.40016
NM_001065.4(TNFRSF1A):c.36A>G (p.Pro12=) rs767455 0.39963
NM_016239.4(MYO15A):c.1783G>A (p.Ala595Thr) rs2955365 0.39950
NM_001164508.2(NEB):c.25204A>G (p.Ile8402Val) rs1061305 0.39905
NM_001371279.1(REEP1):c.285G>A (p.Thr95=) rs2276625 0.39866
NM_024006.6(VKORC1):c.*134G>A rs7294 0.39850
NM_001374504.1(TMPRSS6):c.730A>G (p.Lys244Glu) rs2235324 0.39823
NM_133642.5(LARGE1):c.435C>T (p.Ala145=) rs86487 0.39804
NM_000083.3(CLCN1):c.2180C>T (p.Pro727Leu) rs13438232 0.39795
NM_138959.3(VANGL1):c.*5368G>A rs10494179 0.39771
NM_138959.3(VANGL1):c.*5995A>T rs4595366 0.39755
NM_138959.3(VANGL1):c.*5841A>T rs4548441 0.39752
NM_000352.6(ABCC8):c.3819G>A (p.Arg1273=) rs1799859 0.39734
NM_001232.4(CASQ2):c.1185C>T (p.Asp395=) rs7413162 0.39681
NM_182476.3(COQ6):c.1216G>A (p.Val406Met) rs8500 0.39628
NM_000552.5(VWF):c.2365A>G (p.Thr789Ala) rs1063856 0.39577
NM_000173.7(GP1BA):c.1322_1344del (p.Ser441fs) rs770089708 0.39537
NM_014053.4(FLVCR1):c.1631C>T (p.Thr544Met) rs3207090 0.39516
NM_032578.4(MYPN):c.1884C>G (p.Phe628Leu) rs10823148 0.39498
NM_007254.4(PNKP):c.498+23A>T rs1290649 0.39437
NM_000243.3(MEFV):c.1760-30T>A rs1231123 0.39404
NM_006950.3(SYN1):c.510T>C (p.Asn170=) rs1142636 0.39391
NM_033337.3(CAV3):c.*811C>G rs10882 0.39333
NM_002294.3(LAMP2):c.156A>T (p.Val52=) rs12097 0.39300
NM_001042545.2(LTBP4):c.3221C>T (p.Thr1074Met) rs10880 0.39293
NM_015272.5(RPGRIP1L):c.2959-32G>A rs7203525 0.39281
NM_032578.4(MYPN):c.2072G>A (p.Ser691Asn) rs10997975 0.39270
NM_000383.4(AIRE):c.1197T>C (p.Ala399=) rs1800521 0.39210
NM_001003841.3(SLC6A19):c.306T>C (p.Gly102=) rs60992377 0.39132
NM_004820.5(CYP7B1):c.122+19A>T rs7842714 0.39118
NM_000834.5(GRIN2B):c.3534C>T (p.His1178=) rs1806191 0.39095
NM_005908.4(MANBA):c.757G>A (p.Val253Ile) rs227368 0.39095
NM_032578.4(MYPN):c.2120G>A (p.Ser707Asn) rs7916821 0.39079
NM_001167.4(XIAP):c.1268A>C (p.Gln423Pro) rs5956583 0.38953
NM_000419.5(ITGA2B):c.2621T>G (p.Ile874Ser) rs5911 0.38943
NM_000754.4(COMT):c.289+90A>G rs2239393 0.38794
NM_001355436.2(SPTB):c.3451A>G (p.Asn1151Asp) rs77806 0.38794
NM_004544.4(NDUFA10):c.771A>G (p.Gln257=) rs13848 0.38677
NM_014324.6(AMACR):c.524G>A (p.Gly175Asp) rs10941112 0.38660
NM_025074.7(FRAS1):c.3151+14_3151+15dup rs398092530 0.38519
NM_021956.5(GRIK2):c.2424G>A (p.Glu808=) rs2227283 0.38493
NM_005334.3(HCFC1):c.2841A>G (p.Pro947=) rs730106 0.38477
NM_005334.3(HCFC1):c.3490T>C (p.Ser1164Pro) rs1051152 0.38460
NM_004525.3(LRP2):c.4875T>C (p.Cys1625=) rs2229267 0.38438
NM_000340.2(SLC2A2):c.1437C>T (p.Phe479=) rs5398 0.38373
NM_053056.3(CCND1):c.723G>A (p.Pro241=) rs9344 0.38311
NM_006059.4(LAMC3):c.4378-4A>G rs4740413 0.38295
NM_001365536.1(SCN9A):c.1266A>G (p.Glu422=) rs13402180 0.38234
NM_001365536.1(SCN9A):c.1119T>C (p.Ala373=) rs13414203 0.38227
NM_000540.3(RYR1):c.7835+5A>G rs1469695 0.38217
NM_005956.4(MTHFD1):c.1958G>A (p.Arg653Gln) rs2236225 0.38175
NM_017721.5(CC2D1A):c.1281T>C (p.Gly427=) rs10410239 0.38118
NM_015386.3(COG4):c.646C>T (p.Leu216=) rs3762171 0.38086
NM_001065.4(TNFRSF1A):c.625+10A>G rs1800693 0.38055
NM_001128178.3(NPHP1):c.654G>A (p.Glu218=) rs11675767 0.38033
NM_000384.3(APOB):c.7545C>T (p.Thr2515=) rs693 0.38001
NM_000439.5(PCSK1):c.1650T>C (p.Asn550=) rs6233 0.38001
NM_004100.5(EYA4):c.829G>A (p.Gly277Ser) rs9493627 0.37885
NM_001077415.3(CRELD1):c.1049-393C>T rs3774207 0.37804
NM_000709.4(BCKDHA):c.995+26C>T rs284653 0.37723
NM_000795.4(DRD2):c.957C>T (p.Pro319=) rs6277 0.37659
NM_000527.5(LDLR):c.1959T>C (p.Val653=) rs5925 0.37645
NM_182758.4(WDR72):c.917C>T (p.Pro306Leu) rs551225 0.37615
NM_030665.4(RAI1):c.493C>A (p.Pro165Thr) rs11649804 0.37583
NM_006420.3(ARFGEF2):c.3663T>C (p.Gly1221=) rs2295580 0.37409
NM_000552.5(VWF):c.5844C>T (p.Cys1948=) rs216902 0.37406
NM_002666.5(PLIN1):c.1113T>C (p.Pro371=) rs2304795 0.37380
NM_000231.3(SGCG):c.*295T>C rs3829352 0.37163
NM_020247.5(COQ8A):c.1573-20C>G rs2297416 0.37163
NM_024884.3(L2HGDH):c.1196+34C>T rs12432673 0.37158
NM_000057.4(BLM):c.2555+7T>C rs3815003 0.37072
NM_000230.3(LEP):c.-39G>A rs2167270 0.37068
NM_000352.6(ABCC8):c.2117-3C>T rs1799854 0.37032
NM_182961.4(SYNE1):c.24968G>C (p.Gly8323Ala) rs2252755 0.37011
NM_033004.4(NLRP1):c.3175G>A (p.Val1059Met) rs2301582 0.36823
NM_201525.4(ADGRG1):c.1168-20C>A rs2305309 0.36777
NM_001360016.2(G6PD):c.*357= rs1050757 0.36655
NM_001098.3(ACO2):c.670C>T (p.Leu224=) rs1799932 0.36650
NM_001355436.2(SPTB):c.876+5A>G rs230703 0.36567
G6PD:c.1455-13T>C rs2071429 0.36538
NM_000410.4(HFE):c.340+4T>C rs2071303 0.36484
NM_001256715.2(DNAAF3):c.1239-8A>G rs28377509 0.36480
NM_003244.4(TGIF1):c.16+1720del rs11571510 0.36340
NM_000104.4(CYP1B1):c.142C>G (p.Arg48Gly) rs10012 0.36324
NM_001129.5(AEBP1):c.817C>A (p.Pro273Thr) rs2537188 0.36288
NM_001735.3(C5):c.2404G>A (p.Val802Ile) rs17611 0.36288
NM_181882.3(PRX):c.2763A>G (p.Ile921Met) rs268673 0.36279
NM_001267550.2(TTN):c.56101A>G (p.Asn18701Asp) rs1001238 0.36270
NM_000352.6(ABCC8):c.4609-40A>G rs1109591 0.36267
NM_001367624.2(ZNF469):c.7156G>C (p.Gly2386Arg) rs12598474 0.36151
NM_024809.5(TCTN2):c.1393+7C>T rs7298440 0.36136
NM_001267550.2(TTN):c.83323A>G (p.Ile27775Val) rs3829746 0.36127
NC_000002.12:g.203874196G>A rs3087243 0.36123
NM_014363.6(SACS):c.9981T>C (p.Ala3327=) rs2737700 0.36123
NM_001267550.2(TTN):c.88187T>C (p.Ile29396Thr) rs9808377 0.35993
NM_018368.4(LMBRD1):c.763-50T>C rs2305837 0.35976
NM_006392.4(NOP56):c.1727T>C (p.Val576Ala) rs5856 0.35964
NM_006302.3(MOGS):c.877C>T (p.Pro293Ser) rs2268416 0.35953
NM_006392.4(NOP56):c.1424T>C (p.Met475Thr) rs6753 0.35898
NM_002739.5(PRKCG):c.567T>C (p.Asn189=) rs3745406 0.35855
NM_001742.4(CALCR):c.1340T>C (p.Leu447Pro) rs1801197 0.35816
NM_012463.2(ATP6V0A2):c.-222C>G rs71458814 0.35815
NM_012463.4(ATP6V0A2):c.-14C>T rs1139320 0.35815
NM_000548.5(TSC2):c.5202T>C (p.Asp1734=) rs1748 0.35806
NM_024809.5(TCTN2):c.1235-28A>G rs12831081 0.35804
NM_016239.4(MYO15A):c.2152T>G (p.Trp718Gly) rs2955367 0.35755
NM_030665.4(RAI1):c.840del (p.Gln280fs) rs34083643 0.35741
NM_000559.3(HBG1):c.227C>T (p.Thr76Ile) rs1061234 0.35682
NM_001267550.2(TTN):c.31564A>G (p.Ile10522Val) rs2042995 0.35566
NM_001366385.1(CARD14):c.1641G>C (p.Arg547Ser) rs2066964 0.35511
NM_000545.8(HNF1A):c.79A>C (p.Ile27Leu) rs1169288 0.35489
NM_018368.4(LMBRD1):c.1509+22G>A rs3214021 0.35441
NM_000363.5(TNNI3):c.25-8T>A rs3729836 0.35431
NM_001737.5(C9):c.13C>T (p.Arg5Trp) rs700233 0.35371
NM_198859.4(PRICKLE2):c.259-6A>G rs2306380 0.35289
NM_020921.4(NIN):c.2616C>A (p.Ala872=) rs2073349 0.35221
NM_015599.3(PGM3):c.1396G>A (p.Asp466Asn) rs473267 0.35079
NM_015631.6(TCTN3):c.603T>A (p.Thr201=) rs10786229 0.35079
NM_001142800.2(EYS):c.6977G>A (p.Arg2326Gln) rs4710457 0.35062
NM_033337.3(CAV3):c.99C>T (p.Asn33=) rs1008642 0.35060
NM_022124.6(CDH23):c.624+64C>T rs7087735 0.34986
NM_198253.3(TERT):c.1951-205G>A rs10069690 0.34981
NM_000751.3(CHRND):c.*885T>C rs1004175 0.34980
NM_001267550.2(TTN):c.64208C>T (p.Thr21403Ile) rs2042996 0.34979
NM_014251.3(SLC25A13):c.1194A>G (p.Leu398=) rs2301629 0.34968
NM_001164508.2(NEB):c.7839G>C (p.Lys2613Asn) rs13013209 0.34960
NM_024596.5(MCPH1):c.2214+21313C>T rs3020221 0.34941
NM_017739.4(POMGNT1):c.681A>G (p.Lys227=) rs2292487 0.34915
NM_005006.7(NDUFS1):c.1251A>G (p.Arg417=) rs1801318 0.34874
NM_005554.4(KRT6A):c.495A>G (p.Glu165=) rs376545 0.34829
NM_001080.3(ALDH5A1):c.538C>T (p.His180Tyr) rs2760118 0.34812
NM_000104.4(CYP1B1):c.355G>T (p.Ala119Ser) rs1056827 0.34767
NM_001243156.2(TAF1C):c.1645T>A (p.Leu549Met) rs2230129 0.34702
NM_022437.3(ABCG8):c.161A>G (p.Tyr54Cys) rs4148211 0.34608
NM_014270.5(SLC7A9):c.425T>C (p.Val142Ala) rs12150889 0.34607
NM_024753.5(TTC21B):c.1695C>T (p.Tyr565=) rs6750044 0.34586
NM_002778.4(PSAP):c.1351-14A>G rs4747203 0.34527
NM_001355436.2(SPTB):c.4482G>A (p.Val1494=) rs1741488 0.34424
NM_016553.5(NUP62):c.848G>C (p.Ser283Thr) rs1062798 0.34391
NM_000046.5(ARSB):c.1072G>A (p.Val358Met) rs1065757 0.34386
NM_001277115.2(DNAH11):c.3068T>C (p.Val1023Ala) rs10269582 0.34362
NM_019076.5(UGT1A8):c.855+63319T>G rs7586110 0.34319
NM_153700.2(STRC):c.179T>C (p.Phe60Ser) rs2729509 0.34286
NM_001355436.2(SPTB):c.4476T>C (p.Leu1492=) rs1741487 0.34246
NM_002778.4(PSAP):c.*891G>A rs7869 0.34207
NM_001184.4(ATR):c.5208T>C (p.Tyr1736=) rs2227931 0.34166
NM_000751.3(CHRND):c.*52A>G rs2767 0.34088
NM_001123385.2(BCOR):c.1692A>G (p.Ala564=) rs6520618 0.34081
NM_005751.5(AKAP9):c.8375A>G (p.Asn2792Ser) rs6960867 0.33968
NM_005751.5(AKAP9):c.9145C>T (p.Leu3049=) rs28927678 0.33956
NM_000528.4(MAN2B1):c.1010G>A (p.Arg337Gln) rs1133330 0.33916
NM_006302.3(MOGS):c.715G>A (p.Asp239Asn) rs1063588 0.33895
NM_001355436.2(SPTB):c.4641G>A (p.Ala1547=) rs184528 0.33884
NM_032119.4(ADGRV1):c.6695A>G (p.Tyr2232Cys) rs10037067 0.33794
NM_000162.5(GCK):c.1253+8C>T rs2908274 0.33735
NM_006059.4(LAMC3):c.3108G>A (p.Gly1036=) rs10901344 0.33731
NM_000130.5(F5):c.552G>T (p.Ser184=) rs6022 0.33707
NM_006059.4(LAMC3):c.3114C>G (p.Leu1038=) rs10901345 0.33677
NM_000527.5(LDLR):c.1773C>T (p.Asn591=) rs688 0.33665
NC_000015.10:g.58431740G>A rs2070895 0.33491
NM_000540.3(RYR1):c.8190T>C (p.Asp2730=) rs2915951 0.33482
NM_017755.6(NSUN2):c.97-6C>T rs10076470 0.33475
NM_003803.4(MYOM1):c.1146C>T (p.His382=) rs2230163 0.33439
NM_001134407.3(GRIN2A):c.2085G>C (p.Arg695=) rs9806806 0.33435
NM_001164508.2(NEB):c.13353C>T (p.Ala4451=) rs774726264 0.33333
NM_017755.6(NSUN2):c.51G>A (p.Glu17=) rs10062086 0.33328
NM_024596.5(MCPH1):c.23-26G>A rs1550697 0.33312
NM_000130.5(F5):c.3804T>C (p.Ser1268=) rs1800594 0.33303
NM_033004.4(NLRP1):c.464T>A (p.Leu155His) rs12150220 0.33261
NM_024753.5(TTC21B):c.2175T>C (p.Phe725=) rs10176588 0.33260
NM_003907.3(EIF2B5):c.1759A>G (p.Ile587Val) rs843358 0.33258
NM_000306.4(POU1F1):c.*140A>T rs33936108 0.33253
NM_006031.6(PCNT):c.8996+45C>A rs2236616 0.33111
NM_000540.3(RYR1):c.7977G>A (p.Thr2659=) rs2229144 0.33092
NM_000540.3(RYR1):c.8118T>C (p.Ile2706=) rs2960340 0.33086
NM_001875.5(CPS1):c.4217C>A (p.Thr1406Asn) rs1047891 0.33052
NM_144670.6(A2ML1):c.3364C>T (p.Arg1122Trp) rs1860967 0.33038
NM_000540.3(RYR1):c.8589T>C (p.Ser2863=) rs2229146 0.33010
NM_006269.2(RP1):c.2953A>T (p.Asn985Tyr) rs2293869 0.33006
NM_000569.8(FCGR3A):c.526T>G (p.Phe176Val) rs396991 0.32987
NM_000311.5(PRNP):c.385A>G (p.Met129Val) rs1799990 0.32909
NM_001177660.3(HABP2):c.-10+2091T>C rs2240879 0.32868
NM_002693.3(POLG):c.3105-11T>C rs2302084 0.32855
NM_012301.4(MAGI2):c.1014G>A (p.Lys338=) rs3735442 0.32833
NM_001931.5(DLAT):c.128C>T (p.Ala43Val) rs2303436 0.32827
NM_001367624.2(ZNF469):c.8093T>A (p.Leu2698Gln) rs3812956 0.32763
NM_001006658.3(CR2):c.1987T>C (p.Ser663Pro) rs4308977 0.32718
NM_003384.3(VRK1):c.705C>T (p.Gly235=) rs2230532 0.32707
NM_032119.4(ADGRV1):c.5960C>T (p.Pro1987Leu) rs4916685 0.32702
NM_004525.3(LRP2):c.248A>G (p.Asn83Ser) rs2229263 0.32675
NM_004287.5(GOSR2):c.200G>A (p.Arg67Lys) rs197922 0.32616
NM_006279.5(ST3GAL3):c.209+9925A>G rs37458 0.32581
NM_181741.4(ORC4):c.233A>G (p.Asn78Ser) rs2307394 0.32564
NM_000562.3(C8A):c.277C>A (p.Gln93Lys) rs652785 0.32517
NM_203447.4(DOCK8):c.65C>T (p.Ala22Val) rs506121 0.32420
NM_003384.3(VRK1):c.45A>G (p.Ala15=) rs2145635 0.32398
NM_000540.3(RYR1):c.9186A>G (p.Pro3062=) rs2071089 0.32394
NM_016180.5(SLC45A2):c.1122= (p.Leu374=) rs16891982 0.32383
NM_000754.4(COMT):c.408C>G (p.Leu136=) rs4818 0.32293
NM_001371928.1(AHDC1):c.100A>C (p.Thr34Pro) rs758473342 0.32198
NM_001931.5(DLAT):c.1351G>A (p.Asp451Asn) rs10891314 0.32172
NM_006208.3(ENPP1):c.517A>C (p.Lys173Gln) rs1044498 0.32168
NM_000540.3(RYR1):c.8693-10G>C rs2915958 0.32159
NM_000540.3(RYR1):c.8337G>A (p.Glu2779=) rs2915952 0.32150
NM_022095.4(ZNF335):c.642C>T (p.Ser214=) rs3848719 0.32130
NM_001848.3(COL6A1):c.2667G>A (p.Ala889=) rs1053315 0.32026
NM_139027.6(ADAMTS13):c.1342C>G (p.Gln448Glu) rs2301612 0.31971
NM_153026.3(PRICKLE1):c.1899T>C (p.Phe633=) rs3747563 0.31969
NM_015046.7(SETX):c.5563A>G (p.Thr1855Ala) rs2296871 0.31936
NM_015046.7(SETX):c.5811T>C (p.Asp1937=) rs2296869 0.31913
NM_181523.3(PIK3R1):c.334+14A>C rs706714 0.31742
NM_000565.4(IL6R):c.1073A>C (p.Asp358Ala) rs2228145 0.31732
NM_024006.4(VKORC1):c.-1639G>A rs9923231 0.31727
NM_000400.4(ERCC2):c.2251A>C (p.Lys751Gln) rs13181 0.31719
NM_014832.5(TBC1D4):c.2384-3C>T rs2297203 0.31705
NM_001171.6(ABCC6):c.1233T>C (p.Asn411=) rs9930886 0.31672
NM_002454.3(MTRR):c.524C>T (p.Ser175Leu) rs1532268 0.31601
NM_000124.4(ERCC6):c.2751C>T (p.Gly917=) rs2229760 0.31596
NM_198904.4(GABRG2):c.588C>T (p.Asn196=) rs211037 0.31557
NM_000360.4(TH):c.241G>A (p.Val81Met) rs6356 0.31555
NM_002016.2(FLG):c.7956A>C (p.Glu2652Asp) rs192116923 0.31551
NM_032119.4(ADGRV1):c.5665-23T>C rs4916683 0.31550
NM_181523.3(PIK3R1):c.219C>T (p.Tyr73=) rs706713 0.31538
NM_014270.5(SLC7A9):c.667C>A (p.Leu223Met) rs1007160 0.31494
NM_032119.4(ADGRV1):c.7034A>G (p.Asn2345Ser) rs2366926 0.31467
NM_001253852.3(AP4B1):c.618-13G>C rs3789613 0.31448
NM_145861.4(EDARADD):c.*1562T>C rs7513402 0.31448
NM_052845.4(MMAB):c.57C>A (p.Arg19=) rs10774774 0.31358
NM_000020.3(ACVRL1):c.1377+45T>C rs706815 0.31316
NM_001164508.2(NEB):c.8734T>C (p.Ser2912Pro) rs6713162 0.31314
NM_000312.4(PROC):c.768T>C (p.Asp256=) rs5937 0.31215
NM_032119.4(ADGRV1):c.7206G>A (p.Glu2402=) rs16876822 0.31193
NM_003749.3(IRS2):c.3099A>G (p.Pro1033=) rs9583424 0.31189
NM_000231.3(SGCG):c.*254G>A rs3751371 0.31172
NM_032119.4(ADGRV1):c.6952-10G>A rs10040165 0.31172
NM_024006.6(VKORC1):c.174-136C>T rs9934438 0.31147
NM_006765.4(TUSC3):c.309-6T>C rs1035972 0.31124
NM_005881.4(BCKDK):c.615G>A (p.Thr205=) rs14235 0.30943
NM_000071.3(CBS):c.1080C>T (p.Ala360=) rs1801181 0.30942
NM_007294.4(BRCA1):c.4485-63C>G rs273900734 0.30900
NM_001098668.4(SFTPA2):c.420C>T (p.Ser140=) rs1965707 0.30862
NM_001614.5(ACTG1):c.930C>T (p.Ala310=) rs1135989 0.30776
NM_033337.3(CAV3):c.*783A>G rs7629329 0.30735
NM_001006658.3(CR2):c.2012G>A (p.Arg671His) rs17616 0.30700
NM_005050.4(ABCD4):c.1102G>A (p.Glu368Lys) rs3742801 0.30666
NM_002392.6(MDM2):c.14+309T>G rs2279744 0.30651
NM_004933.3(CDH15):c.264T>C (p.Asp88=) rs59865771 0.30623
NM_000130.5(F5):c.405G>A (p.Ala135=) rs6029 0.30567
NM_182476.3(COQ6):c.570T>C (p.His190=) rs3180946 0.30516
NM_001378452.1(ITPR1):c.6717A>G (p.Thr2239=) rs13079522 0.30449
NM_000545.8(HNF1A):c.1501+7G>A rs2464195 0.30441
NM_018136.5(ASPM):c.8988-42G>A rs41304071 0.30387
NM_001164508.2(NEB):c.5370G>A (p.Glu1790=) rs10170273 0.30371
NM_000123.4(ERCC5):c.3310G>C (p.Asp1104His) rs17655 0.30357
NM_007294.4(BRCA1):c.*1287C>T rs12516 0.30331
NM_001009944.3(PKD1):c.12133A>G (p.Ile4045Val) rs10960 0.30294
NM_004525.3(LRP2):c.639C>T (p.Asp213=) rs2229266 0.30270
NM_001492.6(GDF1):c.353C>T (p.Ala118Val) rs4808863 0.30267
NM_001006658.3(CR2):c.1916G>A (p.Ser639Asn) rs17615 0.30264
NM_000548.5(TSC2):c.5161-10A>C rs1800718 0.30182
NM_182961.4(SYNE1):c.24825G>A (p.Pro8275=) rs2252748 0.30160
NM_201384.3(PLEC):c.4413T>C (p.Ala1471=) rs35916068 0.30160
NM_001005361.3(DNM2):c.2139T>C (p.Ala713=) rs2229920 0.30148
NM_201384.3(PLEC):c.4045-4A>G rs7002152 0.30144
NM_014714.4(IFT140):c.2253T>C (p.Pro751=) rs2076436 0.30133
NM_032119.4(ADGRV1):c.9927T>G (p.Pro3309=) rs16869042 0.30112
NM_201384.3(PLEC):c.3746G>A (p.Arg1249Gln) rs11136334 0.30097
NM_000925.4(PDHB):c.438G>A (p.Gly146=) rs1126551 0.30058
NM_201384.3(PLEC):c.10665G>A (p.Thr3555=) rs6984820 0.30010
NM_201384.3(PLEC):c.5907T>C (p.Ala1969=) rs2857829 0.29968
NM_201384.3(PLEC):c.8495G>A (p.Arg2832His) rs6558407 0.29956
NM_000528.4(MAN2B1):c.832C>G (p.Leu278Val) rs1054486 0.29947
NM_201384.3(PLEC):c.3757-6A>G rs11136333 0.29944
NM_201384.3(PLEC):c.6441G>A (p.Ala2147=) rs7016416 0.29943
NM_201384.3(PLEC):c.3550T>C (p.Leu1184=) rs3135109 0.29936
NM_201384.3(PLEC):c.4680G>A (p.Ala1560=) rs55836855 0.29922
NM_001127701.1(SERPINA1):c.710T>C (p.Val237Ala) rs6647 0.29917
NM_020822.3(KCNT1):c.1749G>A (p.Ala583=) rs17038714 0.29915
NM_201384.3(PLEC):c.7581A>C (p.Ala2527=) rs11778026 0.29910
NM_201384.3(PLEC):c.6170C>T (p.Ala2057Val) rs7002002 0.29901
NM_201384.3(PLEC):c.8253C>T (p.Asn2751=) rs11777402 0.29844
NM_001164508.2(NEB):c.6807+6T>G rs10930723 0.29833
NM_003465.3(CHIT1):c.304G>A (p.Gly102Ser) rs2297950 0.29831
NM_001291867.2(NHS):c.4018T>C (p.Phe1340Leu) rs3747295 0.29823
NM_201384.3(PLEC):c.4455T>G (p.Ala1485=) rs56117011 0.29823
NM_201384.3(PLEC):c.5928G>A (p.Ala1976=) rs1140522 0.29794
NC_000010.11:g.49539493G>C rs3793784 0.29754
NM_139343.3(BIN1):c.486T>C (p.Thr162=) rs1060743 0.29749
NM_000158.4(GBE1):c.568A>G (p.Arg190Gly) rs2229519 0.29724
NM_004517.4(ILK):c.297C>T (p.His99=) rs1043388 0.29694
NM_002392.6(MDM2):c.14+55C>T rs2870820 0.29629
NM_004393.6(DAG1):c.2256C>T (p.His752=) rs1801143 0.29595
NM_000180.4(GUCY2D):c.154G>T (p.Ala52Ser) rs61749665 0.29501
NM_006059.4(LAMC3):c.521C>A (p.Pro174His) rs2275137 0.29468
NM_021956.5(GRIK2):c.2312-9C>T rs2227281 0.29456
NM_000130.5(F5):c.5290A>G (p.Met1764Val) rs6030 0.29437
NM_201384.3(PLEC):c.1095T>C (p.Asp365=) rs11783799 0.29401
NM_003803.4(MYOM1):c.999G>A (p.Gly333=) rs2230162 0.29399
NM_000271.5(NPC1):c.644A>G (p.His215Arg) rs1805081 0.29390
NM_201384.3(PLEC):c.4476G>A (p.Ala1492=) rs55646585 0.29352
NM_001256715.2(DNAAF3):c.1056G>A (p.Pro352=) rs891187 0.29351
NM_020717.5(SHROOM4):c.3468A>G (p.Glu1156=) rs3747282 0.29345
NM_201384.3(PLEC):c.1511C>T (p.Ala504Val) rs11136336 0.29312
NM_020921.4(NIN):c.3090A>T (p.Ser1030=) rs2073348 0.29173
NM_001098.3(ACO2):c.192A>C (p.Thr64=) rs137831 0.29094
NM_001267550.2(TTN):c.25064C>A (p.Ala8355Glu) rs2627043 0.29094
NM_005591.4(MRE11):c.403-6G>A rs535801 0.28996
NM_004370.6(COL12A1):c.5213T>C (p.Ile1738Thr) rs240736 0.28989
NM_001321142.2(CIDEC):c.96G>T (p.Leu32=) rs456168 0.28969
NM_006214.4(PHYH):c.636A>G (p.Thr212=) rs473407 0.28866
NM_020365.5(EIF2B3):c.243C>T (p.Asp81=) rs11556200 0.28819
NM_003611.3(OFD1):c.1129+16A>G rs3815049 0.28815
NM_001083961.2(WDR62):c.700-18C>T rs10423651 0.28763
NM_000553.6(WRN):c.4083C>T (p.Ser1361=) rs1801196 0.28751
NM_006059.4(LAMC3):c.4298C>T (p.Thr1433Met) rs7024108 0.28739
NM_000130.5(F5):c.4095C>T (p.Thr1365=) rs9332607 0.28700
NM_000069.3(CACNA1S):c.258+57G>A rs1325310 0.28632
NM_001142633.3(PIK3R5):c.933A>G (p.Leu311=) rs11650737 0.28596
NM_001142633.3(PIK3R5):c.1011C>T (p.Asp337=) rs16957702 0.28549
NM_022124.6(CDH23):c.7073G>A (p.Arg2358Gln) rs4747194 0.28536
NM_025000.4(DCAF17):c.150C>T (p.Val50=) rs6751956 0.28531
NM_022124.6(CDH23):c.6130G>A (p.Glu2044Lys) rs10466026 0.28442
NM_206933.4(USH2A):c.1644+34A>C rs7515253 0.28314
NM_006059.4(LAMC3):c.1564C>T (p.Pro522Ser) rs869457 0.28273
NM_005432.4(XRCC3):c.562-14A>G rs1799796 0.28148
NM_000110.4(DPYD):c.85T>C (p.Cys29Arg) rs1801265 0.27966
NM_000246.4(CIITA):c.1499G>C (p.Gly500Ala) rs4774 0.27935
NM_001277115.2(DNAH11):c.*88A>G rs7971 0.27927
NM_014363.6(SACS):c.-13A>G rs17078720 0.27905
NM_006702.5(PNPLA6):c.-96A>C rs604959 0.27892
NM_003839.4(TNFRSF11A):c.-9T>C rs1805033 0.27889
NM_022124.6(CDH23):c.7139C>T (p.Pro2380Leu) rs4747195 0.27841
NM_001134407.3(GRIN2A):c.1275G>A (p.Leu425=) rs2229193 0.27838
NM_004836.7(EIF2AK3):c.1791A>G (p.Gln597=) rs1805164 0.27810
NM_032409.3(PINK1):c.*672T>C rs2078073 0.27769
NM_003839.4(TNFRSF11A):c.-39G>A rs7238731 0.27758
NM_003803.4(MYOM1):c.1338C>T (p.Asn446=) rs2230167 0.27688
NM_001493.3(GDI1):c.219T>C (p.Asn73=) rs4834 0.27677
NM_032409.3(PINK1):c.1562A>C (p.Asn521Thr) rs1043424 0.27663
NM_032409.3(PINK1):c.*196T>C rs1043443 0.27662
NM_000140.5(FECH):c.68-23C>T rs2269219 0.27629
NM_002055.5(GFAP):c.*28C>G rs11558961 0.27601
NM_032119.4(ADGRV1):c.11599G>A (p.Glu3867Lys) rs10062026 0.27574
NM_014630.3(ZNF592):c.2777G>A (p.Ser926Asn) rs8182086 0.27524
NM_005957.5(MTHFR):c.665C>T (p.Ala222Val) rs1801133 0.27446
NM_144639.3(UROC1):c.1056C>T (p.Gly352=) rs34025926 0.27430
NM_032409.3(PINK1):c.*564T>G rs1043502 0.27404
NM_001142800.2(EYS):c.5705A>T (p.Asn1902Ile) rs9353806 0.27343
NM_006031.6(PCNT):c.9273+22T>C rs2051190 0.27321
NM_152783.5(D2HGDH):c.164G>A (p.Arg55Gln) rs77940364 0.27302
NM_018972.4(GDAP1):c.507T>G (p.Ser169=) rs11554166 0.27295
NM_001163809.2(WDR81):c.2331A>G (p.Leu777=) rs7221974 0.27266
NM_004993.6(ATXN3):c.634G>A (p.Val212Met) rs1048755 0.27236
NM_001608.4(ACADL):c.997A>C (p.Lys333Gln) rs2286963 0.27178
NM_000545.8(HNF1A):c.1460G>A (p.Ser487Asn) rs2464196 0.27177
NM_000284.4(PDHA1):c.795A>G (p.Ala265=) rs1126565 0.27175
NM_032531.4(KIRREL3):c.346A>C (p.Arg116=) rs12269776 0.27148
NM_022124.6(CDH23):c.1487G>A (p.Ser496Asn) rs10999947 0.27136
NM_001378452.1(ITPR1):c.2658A>C (p.Leu886=) rs2306877 0.27112
NM_001256715.2(DNAAF3):c.666T>C (p.Ala222=) rs7260320 0.27073
NM_001001331.4(ATP2B2):c.1437C>T (p.Asn479=) rs2289274 0.27068
NM_004517.4(ILK):c.819G>A (p.Pro273=) rs1043390 0.27055
NM_001079802.2(FKTN):c.1026C>A (p.Leu342=) rs17309806 0.27053
NM_153218.4(LACC1):c.760A>G (p.Ile254Val) rs3764147 0.26968
NM_000074.3(CD40LG):c.410-13T>C rs3092923 0.26957
NM_001378615.1(CC2D2A):c.3595-22C>T rs4280724 0.26743
NM_001395413.1(POR):c.1499C>T (p.Ala500Val) rs1057868 0.26722
NM_015259.6(ICOSLG):c.382G>A (p.Val128Ile) rs11558819 0.26714
NM_152783.5(D2HGDH):c.490+40T>C rs78147778 0.26689
NM_018670.4(MESP1):c.158dup (p.Ser54fs) rs759335947 0.26682
NM_004168.4(SDHA):c.1932G>A (p.Val644=) rs6961 0.26598
NM_001940.4(ATN1):c.2430C>A (p.Arg810=) rs7969685 0.26588
NM_000531.6(OTC):c.137A>G (p.Lys46Arg) rs1800321 0.26575
NM_000834.5(GRIN2B):c.1665C>T (p.Ser555=) rs1805482 0.26553
NM_000302.4(PLOD1):c.295G>A (p.Ala99Thr) rs7551175 0.26545
NM_000257.4(MYH7):c.732C>T (p.Phe244=) rs2069542 0.26492
NM_198994.3(TGM6):c.1476G>A (p.Lys492=) rs2295077 0.26435
NM_177438.3(DICER1):c.4206+9G>T rs1778057 0.26377
NM_022124.6(CDH23):c.1987-123G>A rs1227087 0.26320
NM_001021.6(RPS17):c.159T>C (p.Tyr53=) rs6991 0.26313
NM_000400.4(ERCC2):c.934G>A (p.Asp312Asn) rs1799793 0.26310
NM_001079802.2(FKTN):c.-158G>C rs4742953 0.26295
NM_004608.4(TBX6):c.1227G>A (p.Pro409=) rs2289292 0.26284
NM_000235.4(LIPA):c.46A>C (p.Thr16Pro) rs1051338 0.26270
NM_001164508.2(NEB):c.10809G>C (p.Trp3603Cys) rs10172023 0.26237
NM_004247.4(EFTUD2):c.994+6C>T rs11654183 0.26232
NM_182961.4(SYNE1):c.17346+7G>A rs9383985 0.26223
NM_213607.3(DNAAF19):c.*4G>A rs8079308 0.26209
NM_139027.6(ADAMTS13):c.4053C>A (p.Thr1351=) rs1055432 0.26164
NM_000545.8(HNF1A):c.1375C>T (p.Leu459=) rs2259820 0.26141
NM_004168.4(SDHA):c.1038C>G (p.Ser346=) rs1041949 0.26134
NM_001386140.1(MTTP):c.383T>C (p.Ile128Thr) rs3816873 0.26064
NM_016219.5(MAN1B1):c.1765-5C>A rs12115325 0.25987
NM_014844.5(TECPR2):c.2047A>G (p.Ile683Val) rs10149146 0.25981
NM_000743.5(CHRNA3):c.645C>T (p.Tyr215=) rs1051730 0.25972
NM_005957.5(MTHFR):c.1286A>C (p.Glu429Ala) rs1801131 0.25830
NM_000350.3(ABCA4):c.1268A>G (p.His423Arg) rs3112831 0.25794
NM_004044.7(ATIC):c.1503+675T>C rs4673993 0.25749
NM_020361.5(CPA6):c.133T>C (p.Phe45Leu) rs10957393 0.25723
NM_152783.5(D2HGDH):c.1012G>A (p.Val338Ile) rs1106639 0.25699
NM_178510.2(ANKK1):c.2137G>A (p.Glu713Lys) rs1800497 0.25693
NM_001395413.1(POR):c.822-35C>T rs41301394 0.25679
NM_004608.4(TBX6):c.-48-240A>G rs3809624 0.25668
NM_002381.5(MATN3):c.1406-4C>T rs35973216 0.25515
NM_020366.4(RPGRIP1):c.3097G>C (p.Glu1033Gln) rs3748361 0.25511
NM_001163809.2(WDR81):c.4603A>G (p.Met1535Val) rs3809870 0.25451
NM_001807.6(CEL):c.1710C>T (p.Pro570=) rs488087 0.25447
NM_003126.4(SPTA1):c.6531-12C>T rs28525570 0.25447
NM_003126.4(SPTA1):c.5572C>G (p.Leu1858Val) rs3737515 0.25425
NM_198525.3(KIF7):c.3517+6C>T rs74251725 0.25419
NM_001166114.2(PNPLA6):c.2094G>A (p.Pro698=) rs8107538 0.25415
NM_000260.4(MYO7A):c.6354+35G>A rs3819170 0.25401
NM_001129729.3(PLEKHG4):c.1574A>G (p.Asp525Gly) rs8044843 0.25392
NM_002666.5(PLIN1):c.1119C>T (p.Val373=) rs2304796 0.25348
NM_006031.6(PCNT):c.1207+34A>T rs35210219 0.25330
NM_005656.4(TMPRSS2):c.478G>A (p.Val160Met) rs12329760 0.25326
NM_000322.5(PRPH2):c.582-85G>A rs34722725 0.25301
NM_017950.4(CCDC40):c.2832+313A>G rs7210679 0.25232
NM_004525.3(LRP2):c.8614G>A (p.Ala2872Thr) rs2228171 0.25207
NM_206933.4(USH2A):c.11711+71A>T rs6694510 0.25183
NM_004168.4(SDHA):c.309A>G (p.Ala103=) rs1139424 0.25161
NM_004168.4(SDHA):c.1680G>A (p.Thr560=) rs1139449 0.25156
NM_005535.3(IL12RB1):c.641A>G (p.Gln214Arg) rs11575934 0.25155
NM_014694.4(ADAMTSL2):c.1090G>A (p.Val364Ile) rs35767802 0.25137
NM_001355436.2(SPTB):c.1269G>A (p.Leu423=) rs229586 0.25102
NM_006282.5(STK4):c.934G>A (p.Val312Met) rs17420378 0.25016
NM_203447.4(DOCK8):c.1238A>G (p.Asn413Ser) rs10970979 0.24995
NM_000552.5(VWF):c.2880G>A (p.Arg960=) rs1800380 0.24976
NM_001256715.2(DNAAF3):c.875A>G (p.Glu292Gly) rs2365725 0.24847
NM_001369.3(DNAH5):c.1537-102T>A rs67065537 0.24800
NM_001079802.2(FKTN):c.608G>A (p.Arg203Gln) rs34787999 0.24782
NM_000335.5(SCN5A):c.1673A>G (p.His558Arg) rs1805124 0.24768
NM_001164508.2(NEB):c.18294T>C (p.Tyr6098=) rs2288211 0.24726
NM_003070.5(SMARCA2):c.3672G>A (p.Glu1224=) rs6601 0.24705
NM_001142633.3(PIK3R5):c.1101G>A (p.Ser367=) rs9915880 0.24687
NM_018109.4(MTPAP):c.484C>T (p.Arg162Cys) rs1047991 0.24641
NM_015192.4(PLCB1):c.2565G>A (p.Ala855=) rs2076413 0.24634
NM_000130.5(F5):c.2573A>G (p.Lys858Arg) rs4524 0.24628
NM_005236.3(ERCC4):c.2505T>C (p.Ser835=) rs1799801 0.24619
NM_000102.4(CYP17A1):c.1243+113A>T rs10883783 0.24576
NM_004168.4(SDHA):c.1886A>T (p.Tyr629Phe) rs6960 0.24550
NM_000130.5(F5):c.2208C>T (p.Ile736=) rs6016 0.24548
NM_000130.5(F5):c.2301A>G (p.Ser767=) rs6021 0.24547
NM_000130.5(F5):c.2773A>G (p.Lys925Glu) rs6032 0.24537
NM_000052.7(ATP7A):c.2299G>C (p.Val767Leu) rs2227291 0.24533
NM_031433.4(MFRP):c.406G>A (p.Val136Met) rs3814762 0.24523
NM_000834.5(GRIN2B):c.2664C>T (p.Thr888=) rs1806201 0.24515
NM_001281740.3(FHOD3):c.3072A>C (p.Pro1024=) rs1021276233 0.24503
NM_018082.6(POLR3B):c.3396T>C (p.Asn1132=) rs13561 0.24486
NM_001378452.1(ITPR1):c.7054C>T (p.Leu2352=) rs2291862 0.24351
NM_173560.4(RFX6):c.1542T>C (p.Asn514=) rs7770158 0.24325
NM_000439.5(PCSK1):c.1993C>G (p.Gln665Glu) rs6234 0.24307
NM_000533.5(PLP1):c.609T>C (p.Asp203=) rs1126707 0.24299
NM_015087.5(SPART):c.-145G>A rs9566108 0.24276
NM_001142294.2(SPART):c.-2-10643G>A rs2281864 0.24249
NM_138959.3(VANGL1):c.*6026G>A rs6428677 0.24227
NM_016358.3(IRX4):c.90A>C (p.Gly30=) rs2232374 0.24160
NM_000384.3(APOB):c.293C>T (p.Thr98Ile) rs1367117 0.24155
NM_021956.5(GRIK2):c.2085+10G>A rs2243355 0.24148
NM_000130.5(F5):c.2594A>G (p.His865Arg) rs4525 0.24141
NM_000372.5(TYR):c.575C>A (p.Ser192Tyr) rs1042602 0.24046
NM_198859.4(PRICKLE2):c.579G>A (p.Pro193=) rs17720698 0.24032
NM_001267550.2(TTN):c.79862C>T (p.Thr26621Met) rs3731746 0.24029
NM_004168.4(SDHA):c.1752A>G (p.Ala584=) rs13070 0.24028
NM_004168.4(SDHA):c.619A>C (p.Arg207=) rs6555055 0.24028
NM_004168.4(SDHA):c.684T>C (p.Asn228=) rs2115272 0.24016
NM_001365951.3(KIF1B):c.285C>G (p.Ala95=) rs12402052 0.24010
NM_001256715.2(DNAAF3):c.790-14C>T rs7260371 0.23966
NM_001267550.2(TTN):c.67075G>A (p.Val22359Ile) rs2303838 0.23912
NM_015087.5(SPART):c.1629A>G (p.Ala543=) rs2274293 0.23882
NM_001365951.3(KIF1B):c.5301C>A (p.Thr1767=) rs11121552 0.23876
NM_033337.3(CAV3):c.123T>C (p.Phe41=) rs13087941 0.23875
NM_001163809.2(WDR81):c.2142T>C (p.Gly714=) rs59643265 0.23864
NM_000552.5(VWF):c.1182A>C (p.Ser394=) rs1800376 0.23834
NM_000350.3(ABCA4):c.5682G>C (p.Leu1894=) rs1801574 0.23813
NM_032119.4(ADGRV1):c.6012G>T (p.Leu2004Phe) rs16868972 0.23805
NM_001009944.3(PKD1):c.9196T>C (p.Phe3066Leu) rs9925969 0.23746
NM_003383.5(VLDLR):c.2416+8G>T rs6145 0.23708
NM_002303.6(LEPR):c.1029T>C (p.Ser343=) rs1805134 0.23693
NM_007327.4(GRIN1):c.789A>G (p.Pro263=) rs6293 0.23665
NM_001160372.4(TRAPPC9):c.1692C>T (p.Asn564=) rs12549048 0.23649
NM_024757.5(EHMT1):c.444T>C (p.Pro148=) rs3812497 0.23632
NM_001902.6(CTH):c.1208G>T (p.Ser403Ile) rs1021737 0.23572
NM_001130987.2(DYSF):c.5976A>C (p.Pro1992=) rs17718530 0.23571
NM_001244008.2(KIF1A):c.3641-8C>T rs56024577 0.23553
NM_173560.4(RFX6):c.1914T>C (p.Gly638=) rs611349 0.23550
NM_017866.6(TMEM70):c.777C>G (p.Asp259Glu) rs1053077 0.23539
NM_017866.6(TMEM70):c.748A>G (p.Thr250Ala) rs1053079 0.23525
NM_182961.4(SYNE1):c.8384C>T (p.Ala2795Val) rs214950 0.23524
NM_031433.4(MFRP):c.492C>T (p.Tyr164=) rs36015759 0.23503
NM_001135998.3(NDUFB11):c.207+9C>G rs782740072 0.23464
NM_002775.5(HTRA1):c.102C>T (p.Ala34=) rs1049331 0.23426
NM_001099667.3(ARMS2):c.205G>T (p.Ala69Ser) rs10490924 0.23418
NM_000130.5(F5):c.2235T>C (p.Asn745=) rs6017 0.23336
NM_001277115.2(DNAH11):c.5621+11A>T rs59447021 0.23311
NM_007327.4(GRIN1):c.855G>A (p.Val285=) rs1126442 0.23307
NM_000190.4(HMBS):c.606G>T (p.Val202=) rs1131488 0.23280
NM_004285.4(H6PD):c.745+88T>A rs12032814 0.23253
NM_016529.6(ATP8A2):c.144A>C (p.Gly48=) rs7317185 0.23234
NM_000540.3(RYR1):c.7614+10C>G rs2960323 0.23229
NM_198437.3(AURKA):c.91T>A (p.Phe31Ile) rs2273535 0.23195
NM_000552.5(VWF):c.1173A>T (p.Thr391=) rs1800375 0.23172
NM_024596.5(MCPH1):c.2214+19983C>T rs1961222 0.23147
NM_002633.3(PGM1):c.661C>T (p.Arg221Cys) rs1126728 0.23125
NM_173560.4(RFX6):c.1383T>C (p.Thr461=) rs7764347 0.23095
NM_000492.4(CFTR):c.4389G>A (p.Gln1463=) rs1800136 0.23047
NM_000525.4(KCNJ11):c.570C>T (p.Ala190=) rs5218 0.23002
NM_001110556.2(FLNA):c.5850T>C (p.Ala1950=) rs2070825 0.22980
NM_013435.3(RAX):c.*291C>T rs3744892 0.22961
NM_014687.4(RUBCN):c.2856A>G (p.Ser952=) rs28562770 0.22958
NM_004836.7(EIF2AK3):c.1763+6A>T rs6750998 0.22935
NM_138959.3(VANGL1):c.*6199A>T rs3811007 0.22923
NM_001171.6(ABCC6):c.3803G>A (p.Arg1268Gln) rs2238472 0.22903
NM_201384.3(PLEC):c.2740-45G>T rs11993782 0.22902
NM_001082.5(CYP4F2):c.1297G>A (p.Val433Met) rs2108622 0.22897
NM_170707.4(LMNA):c.1338T>C (p.Asp446=) rs505058 0.22862
NM_000439.5(PCSK1):c.2069G>C (p.Ser690Thr) rs6235 0.22796
NM_181523.3(PIK3R1):c.978G>A (p.Met326Ile) rs3730089 0.22679
NM_003194.5(TBP):c.228G>A (p.Gln76=) rs112083427 0.22669
NM_001163809.2(WDR81):c.5127G>A (p.Pro1709=) rs8065251 0.22648
NM_014363.6(SACS):c.6195T>C (p.Ile2065=) rs4143768 0.22637
NM_001358921.2(COQ2):c.840C>T (p.Ser280=) rs1129617 0.22636
NM_000133.4(F9):c.580A>G (p.Thr194Ala) rs6048 0.22614
NM_001129729.3(PLEKHG4):c.2489G>A (p.Arg830His) rs3868142 0.22609
NM_018082.6(POLR3B):c.2055T>C (p.Tyr685=) rs10861607 0.22605
NM_014363.6(SACS):c.12304T>C (p.Leu4102=) rs2737699 0.22584
NM_000553.6(WRN):c.4099T>C (p.Cys1367Arg) rs1346044 0.22580
NM_019892.6(INPP5E):c.1794G>T (p.Gly598=) rs33982662 0.22542
NM_003793.4(CTSF):c.126C>T (p.Pro42=) rs1044522 0.22541
NM_000249.4(MLH1):c.655A>G (p.Ile219Val) rs1799977 0.22523
NM_004628.5(XPC):c.*96C>G rs2229090 0.22489
NM_000130.5(F5):c.237A>G (p.Gln79=) rs6028 0.22486
NM_001348946.2(ABCB1):c.287-25G>T rs2235015 0.22451
NM_000070.3(CAPN3):c.706G>A (p.Ala236Thr) rs1801449 0.22429
NM_005120.3(MED12):c.736-8A>C rs62609586 0.22423
NM_014832.5(TBC1D4):c.498+9G>A rs9573565 0.22396
NM_000137.4(FAH):c.-178G>A rs56043846 0.22394
NM_144687.4(NLRP12):c.116G>T (p.Gly39Val) rs34436714 0.22387
NM_000249.4(MLH1):c.1039-31A>T rs59684491 0.22372
NM_000340.2(SLC2A2):c.329C>T (p.Thr110Ile) rs5400 0.22370
NM_014855.3(AP5Z1):c.759C>T (p.Ser253=) rs17135121 0.22358
NM_000443.4(ABCB4):c.711A>T (p.Ile237=) rs2109505 0.22300
NM_016013.4(NDUFAF1):c.26G>A (p.Arg9His) rs1899 0.22292
NM_014324.6(AMACR):c.*663G>A rs15612 0.22285
NM_024577.4(SH3TC2):c.1402G>T (p.Ala468Ser) rs6875902 0.22262
NM_014141.6(CNTNAP2):c.2280A>G (p.Ser760=) rs10240503 0.22240
NC_000001.11:g.7961680G>A rs17523802 0.22239
NM_001130438.3(SPTAN1):c.5479-41A>C rs7864187 0.22215
NM_004836.7(EIF2AK3):c.407C>G (p.Ser136Cys) rs867529 0.22211
NM_003690.5(PRKRA):c.685C>T (p.Leu229=) rs62176107 0.22118
NM_000322.5(PRPH2):c.829-48C>T rs41273820 0.22114
NM_001330574.2(ZNF711):c.-286+5C>T rs41311563 0.22093
NM_001129729.3(PLEKHG4):c.1235C>T (p.Thr412Ile) rs11860295 0.22066
NM_001254.4(CDC6):c.1321G>A (p.Val441Ile) rs13706 0.22044
NM_000129.4(F13A1):c.103G>T (p.Val35Leu) rs5985 0.22002
NM_006514.4(SCN10A):c.3275T>C (p.Leu1092Pro) rs12632942 0.21993
NM_005120.3(MED12):c.3930A>C (p.Pro1310=) rs5030619 0.21992
NM_006269.2(RP1):c.5008G>A (p.Ala1670Thr) rs446227 0.21985
NM_000071.3(CBS):c.*123C>G rs1051319 0.21968
NM_001281740.3(FHOD3):c.3078A>C (p.Pro1026=) rs771717461 0.21966
NM_177438.3(DICER1):c.1907+105C>T rs2275182 0.21959
NM_032444.4(SLX4):c.753G>A (p.Ala251=) rs8061528 0.21914
NM_000352.6(ABCC8):c.2292-34T>C rs1800852 0.21889
NM_000130.5(F5):c.3948C>T (p.Leu1316=) rs9287090 0.21875
NM_025219.3(DNAJC5):c.*2723A>G rs76769576 0.21875
NM_001163809.2(WDR81):c.2739G>A (p.Leu913=) rs9912287 0.21861
NM_213622.4(STAMBP):c.1218+12T>C rs1025424 0.21855
NM_001127701.1(SERPINA1):c.1200A>C (p.Glu400Asp) rs1303 0.21786
NM_014363.6(SACS):c.8853T>C (p.Val2951=) rs9552929 0.21755
NM_014363.6(SACS):c.10106T>C (p.Val3369Ala) rs17078605 0.21747
NM_032588.4(TRIM63):c.709A>G (p.Lys237Glu) rs2275950 0.21674
NM_025225.3(PNPLA3):c.444C>G (p.Ile148Met) rs738409 0.21657
NM_005120.3(MED12):c.205-38C>T rs12850852 0.21650
NM_001163809.2(WDR81):c.5640C>T (p.Ser1880=) rs8077638 0.21643
NM_001395413.1(POR):c.378A>G (p.Pro126=) rs1135612 0.21625
NM_177438.3(DICER1):c.4206+11del rs58202892 0.21617
NM_000383.4(AIRE):c.681C>T (p.Gly227=) rs1055311 0.21613
NM_013435.3(RAX):c.*236C>T rs28774981 0.21564
NM_182758.4(WDR72):c.2455C>T (p.Leu819Phe) rs17730281 0.21505
NM_000335.5(SCN5A):c.*1537T>C rs41315485 0.21494
NM_001267550.2(TTN):c.33287G>A (p.Arg11096His) rs36051007 0.21486
NM_000102.4(CYP17A1):c.1139+19T>G rs4919686 0.21485
NM_020975.6(RET):c.135= (p.Ala45=) rs1800858 0.21483
NM_020366.4(RPGRIP1):c.1639G>T (p.Ala547Ser) rs10151259 0.21481
NM_003803.4(MYOM1):c.1392G>A (p.Arg464=) rs11659820 0.21420
NM_001267550.2(TTN):c.78674T>C (p.Ile26225Thr) rs12463674 0.21393
NM_000254.3(MTR):c.2756A>G (p.Asp919Gly) rs1805087 0.21318
NM_000352.6(ABCC8):c.4119+93G>T rs4148644 0.21307
NM_000439.5(PCSK1):c.-101T>C rs6230 0.21258
NM_000404.4(GLB1):c.1233+8T>C rs13093698 0.21250
NM_018294.6(CWF19L1):c.479G>A (p.Cys160Tyr) rs2270962 0.21236
NM_198525.3(KIF7):c.154G>A (p.Asp52Asn) rs8179065 0.21214
NM_001371623.1(TCOF1):c.4172C>T (p.Ala1391Val) rs15251 0.21165
NM_022436.3(ABCG5):c.1810C>G (p.Gln604Glu) rs6720173 0.21159
NM_000062.3(SERPING1):c.1438G>A (p.Val480Met) rs4926 0.21153
NM_005334.3(HCFC1):c.4185G>A (p.Ala1395=) rs2071133 0.21102
NM_022041.4(GAN):c.1293C>T (p.Tyr431=) rs2608555 0.21090
NM_001317778.2(SFTPC):c.413C>A (p.Thr138Asn) rs4715 0.21061
NM_000017.4(ACADS):c.625G>A (p.Gly209Ser) rs1799958 0.20997
NM_022095.4(ZNF335):c.1103-7G>A rs3746512 0.20987
NM_001256864.2(DNAJC6):c.2183G>A (p.Ser728Asn) rs4915691 0.20984
NM_000685.5(AGTR1):c.*86A>C rs5186 0.20976
NM_002454.3(MTRR):c.1049A>G (p.Lys350Arg) rs162036 0.20973
NM_006059.4(LAMC3):c.4231-10C>T rs4740411 0.20970
NM_018026.4(PACS1):c.2293+6G>C rs476551 0.20949
NM_006384.4(CIB1):c.87-84C>T rs4451921 0.20932
NM_000937.5(POLR2A):c.5016G>A (p.Ser1672=) rs55931722 0.20928
NM_001364905.1(LRBA):c.8077G>A (p.Ala2693Thr) rs3749574 0.20925
NM_001163809.2(WDR81):c.1955C>T (p.Pro652Leu) rs57207396 0.20916
NM_005957.5(MTHFR):c.1167-76G>T rs12121543 0.20910
NM_014141.6(CNTNAP2):c.1777+10A>G rs2286127 0.20881
NM_020975.6(RET):c.337+9G>A rs2435351 0.20840
NM_006514.4(SCN10A):c.2884A>G (p.Ile962Val) rs57326399 0.20797
NM_001330073.1(MPDU1):c.-73A>G rs2075230 0.20731
NM_170707.4(LMNA):c.1698C>T (p.His566=) rs4641 0.20715
NM_001277115.2(DNAH11):c.7335G>A (p.Ser2445=) rs11768670 0.20699
NM_000270.4(PNP):c.151G>A (p.Gly51Ser) rs1049564 0.20682
NM_002184.4(IL6ST):c.442G>C (p.Gly148Arg) rs2228044 0.20682
NM_006059.4(LAMC3):c.4376G>A (p.Arg1459Gln) rs4740412 0.20674
NM_004247.4(EFTUD2):c.762T>C (p.Thr254=) rs2289674 0.20662
NM_006059.4(LAMC3):c.1218G>A (p.Thr406=) rs2293518 0.20549
NM_000243.3(MEFV):c.605G>A (p.Arg202Gln) rs224222 0.20531
NM_005422.4(TECTA):c.2795T>C (p.Val932Ala) rs520805 0.20516
NM_080424.4(SP110):c.617C>T (p.Ala206Val) rs28930679 0.20467
NM_001378615.1(CC2D2A):c.3201G>A (p.Ser1067=) rs73125627 0.20422
NM_019892.6(INPP5E):c.*98G>A rs35873563 0.20417
NM_001100.4(ACTA1):c.130-10G>C rs41271481 0.20392
NM_020921.4(NIN):c.3331C>G (p.Pro1111Ala) rs2236316 0.20343
NM_001164508.2(NEB):c.4435G>A (p.Val1479Ile) rs34577613 0.20341
NM_032119.4(ADGRV1):c.8538T>G (p.Leu2846=) rs6880570 0.20300
NM_138982.4(MAPK10):c.1111-6C>T rs13103861 0.20292
NM_002465.4(MYBPC1):c.556+10C>G rs61935677 0.20256
NM_000350.3(ABCA4):c.5814A>G (p.Leu1938=) rs4147857 0.20212
NM_001035.3(RYR2):c.8873A>G (p.Gln2958Arg) rs34967813 0.20187
NM_025000.4(DCAF17):c.322-14C>T rs192861143 0.20151
NM_012144.4(DNAI1):c.1003G>A (p.Val335Ile) rs11793196 0.20136
NM_000439.5(PCSK1):c.*265T>C rs3811942 0.20126
NM_198282.4(STING1):c.878G>A (p.Arg293Gln) rs7380824 0.20123
NM_032444.4(SLX4):c.3365C>T (p.Pro1122Leu) rs714181 0.20077
NM_005199.5(CHRNG):c.507-13C>T rs2853462 0.20060
NM_020778.5(ALPK3):c.4259T>C (p.Leu1420Pro) rs187316 0.20039
NM_006129.5(BMP1):c.*145T>C rs7001 0.20026
NM_000350.3(ABCA4):c.5836-11G>A rs1800739 0.20005
NC_000016.10:g.56520101C>T rs2303284 0.19980
NM_025009.5(CEP135):c.2305A>C (p.Ile769Leu) rs3214045 0.19968
NM_000769.1(CYP2C19):c.-806C>T rs12248560 0.19962
NM_000382.3(ALDH3A2):c.940+53C>G rs1800869 0.19935
NM_000934.4(SERPINF2):c.1301G>A (p.Arg434Lys) rs1057335 0.19911
NM_007347.5(AP4E1):c.3387G>A (p.Gln1129=) rs3825798 0.19899
NM_001018115.3(FANCD2):c.1122A>G (p.Val374=) rs34046352 0.19892
NM_001382817.3(AGT):c.-30-3287A>C rs5050 0.19880
NM_138413.4(HOGA1):c.212-21A>G rs11817730 0.19877
NM_025000.4(DCAF17):c.999A>G (p.Gln333=) rs3731983 0.19825
NM_001009944.3(PKD1):c.3275T>C (p.Met1092Thr) rs2549677 0.19794
NM_198282.4(STING1):c.689G>C (p.Gly230Ala) rs78233829 0.19776
NM_025000.4(DCAF17):c.1267-7C>T rs3731981 0.19769
NM_000350.3(ABCA4):c.5844A>G (p.Pro1948=) rs2275029 0.19626
NM_017757.3(ZNF407):c.1248T>C (p.Pro416=) rs3794941 0.19620
NM_014336.5(AIPL1):c.268G>C (p.Asp90His) rs12449580 0.19586
NM_000129.4(F13A1):c.1694C>T (p.Pro565Leu) rs5982 0.19579
NM_000124.4(ERCC6):c.3637A>G (p.Arg1213Gly) rs2228527 0.19565
NM_000124.4(ERCC6):c.3289A>G (p.Met1097Val) rs2228526 0.19557
NM_000487.6(ARSA):c.1055A>G (p.Asn352Ser) rs2071421 0.19530
NM_178135.5(HSD17B13):c.812+2dup rs72613567 0.19453
NM_005257.6(GATA6):c.1620+7A>G rs3764962 0.19428
NM_001130987.2(DYSF):c.6321+15C>T rs2559082 0.19406
NM_000027.4(AGA):c.281+13T>G rs34241758 0.19395
NM_017757.3(ZNF407):c.2915A>C (p.Asn972Thr) rs948615 0.19393
NM_000124.4(ERCC6):c.4238A>G (p.Gln1413Arg) rs2228529 0.19381
NM_000391.4(TPP1):c.1542A>T (p.Gly514=) rs1128396 0.19324
NM_006929.5(SKIC2):c.3212C>T (p.Ala1071Val) rs449643 0.19166
NM_004525.3(LRP2):c.5100C>T (p.Ser1700=) rs2302694 0.19156
NM_014714.4(IFT140):c.2919C>T (p.Ala973=) rs2235640 0.19119
NM_006493.4(CLN5):c.956A>G (p.Lys319Arg) rs1800209 0.19109
NM_018100.4(EFHC1):c.573+10A>G rs9349626 0.19089
NM_014832.5(TBC1D4):c.3824T>C (p.Val1275Ala) rs557337 0.19086
NM_006086.4(TUBB3):c.58-22C>T rs2302897 0.19080
NM_020778.5(ALPK3):c.635C>G (p.Thr212Ser) rs3803403 0.19072
NM_206933.4(USH2A):c.11504C>T (p.Thr3835Ile) rs11120616 0.19033
NM_018026.4(PACS1):c.1993+8C>T rs2236651 0.18987
NM_018249.6(CDK5RAP2):c.2274T>C (p.Asp758=) rs2501727 0.18906
NM_020987.5(ANK3):c.8895T>C (p.Ala2965=) rs10740006 0.18901
NM_015915.5(ATL1):c.84A>G (p.Pro28=) rs35014209 0.18809
NM_002658.6(PLAU):c.422= (p.Leu141=) rs2227564 0.18805
NM_016335.6(PRODH):c.1278C>T (p.Asp426=) rs16983466 0.18792
NM_001018115.3(FANCD2):c.2141C>T (p.Pro714Leu) rs3864017 0.18785
NM_001003841.3(SLC6A19):c.754G>A (p.Val252Ile) rs7732589 0.18781
NM_017721.5(CC2D1A):c.2402C>T (p.Thr801Met) rs2305777 0.18775
NM_020987.5(ANK3):c.9368A>G (p.Lys3123Arg) rs10821668 0.18742
NM_000702.4(ATP1A2):c.1119G>A (p.Ser373=) rs1063125 0.18737
NM_006031.6(PCNT):c.5994+48T>G rs73379348 0.18721
CYP2D6*10 rs1065852 0.18675
NM_014141.6(CNTNAP2):c.3248-4A>G rs3779031 0.18667
NM_000110.4(DPYD):c.1627A>G (p.Ile543Val) rs1801159 0.18640
NM_000136.3(FANCC):c.250+220G>A rs356667 0.18637
NM_000587.4(C7):c.1759A>C (p.Thr587Pro) rs13157656 0.18623
NM_058216.3(RAD51C):c.-26C>T rs12946397 0.18608
NM_001130987.2(DYSF):c.4026C>T (p.Asn1342=) rs11558179 0.18595
NM_001364905.1(LRBA):c.8393C>T (p.Ser2798Leu) rs2290846 0.18590
NM_006086.4(TUBB3):c.58-49C>T rs28593634 0.18590
NM_145861.4(EDARADD):c.369C>T (p.Asp123=) rs604070 0.18581
NM_006031.6(PCNT):c.7494+48G>A rs55937012 0.18558
NM_000383.4(AIRE):c.588C>T (p.Ser196=) rs878081 0.18544
NM_000055.2(BCHE):c.1699G>A (p.Ala567Thr) rs1803274 0.18493
NM_020921.4(NIN):c.1974T>C (p.His658=) rs4901055 0.18482
NM_001379200.1(TBX1):c.1216A>C (p.Asn406His) rs72646967 0.18477
NM_170784.3(MKKS):c.117C>T (p.Pro39=) rs16991547 0.18435
NM_001369.3(DNAH5):c.5271+72C>T rs16902837 0.18397
NM_002633.3(PGM1):c.*198C>T rs10909 0.18377
NM_012082.4(ZFPM2):c.1208C>G (p.Ala403Gly) rs11993776 0.18341
NM_170707.4(LMNA):c.861T>C (p.Ala287=) rs538089 0.18331
NM_001371623.1(TCOF1):c.2660T>C (p.Val887Ala) rs7713638 0.18279
NM_020778.5(ALPK3):c.1130G>A (p.Gly377Glu) rs3803405 0.18268
NM_173660.5(DOK7):c.887A>G (p.Gln296Arg) rs6811423 0.18249
NM_002454.3(MTRR):c.1783C>T (p.His595Tyr) rs10380 0.18188
NM_002184.4(IL6ST):c.1189C>G (p.Leu397Val) rs2228043 0.18173
NM_001009944.3(PKD1):c.7913A>G (p.His2638Arg) rs9936785 0.18159
NM_002496.4(NDUFS8):c.*14C>T rs1051806 0.18125
NM_001256864.2(DNAJC6):c.1983T>C (p.Ser661=) rs12077111 0.18102
NM_002894.3(RBBP8):c.2115G>A (p.Lys705=) rs17852769 0.18089
NM_005670.4(EPM2A):c.402G>A (p.Gly134=) rs35230590 0.18089
NM_182961.4(SYNE1):c.2098-29C>T rs7775181 0.18049
NM_182961.4(SYNE1):c.2098-50G>A rs7776344 0.18046
NM_015192.4(PLCB1):c.102C>T (p.Asp34=) rs16994453 0.18027
NM_000125.4(ESR1):c.1782G>A (p.Thr594=) rs2228480 0.17968
NM_175914.5(HNF4A):c.50-5C>T rs745975 0.17964
NM_000754.4(COMT):c.615+75G>C rs4646315 0.17957
NM_005334.3(HCFC1):c.2283C>G (p.Thr761=) rs2071134 0.17925
NM_152783.5(D2HGDH):c.1082C>T (p.Ala361Val) rs1105273 0.17904
NM_006031.6(PCNT):c.5994+38T>C rs73907502 0.17895
NM_000124.4(ERCC6):c.1196G>A (p.Gly399Asp) rs2228528 0.17892
NM_001256864.2(DNAJC6):c.1506C>T (p.His502=) rs11208644 0.17883
NM_001371623.1(TCOF1):c.1842A>G (p.Ser614=) rs2071239 0.17773
NM_001127222.2(CACNA1A):c.3861T>C (p.Phe1287=) rs16030 0.17770
NC_000002.12:g.20012707G>T rs188620236 0.17745
NM_000240.4(MAOA):c.385A>C (p.Arg129=) rs1800464 0.17743
NM_006031.6(PCNT):c.7913+40C>T rs1023161 0.17731
NM_170707.4(LMNA):c.1157+16G>A rs534807 0.17703
NM_001370466.1(NOD2):c.721C>T (p.Pro241Ser) rs2066842 0.17678
NM_000372.5(TYR):c.1205G>A (p.Arg402Gln) rs1126809 0.17677
NM_018136.5(ASPM):c.2174-20T>C rs4915344 0.17676
NM_001074.4(UGT2B7):c.1062C>T (p.Tyr354=) rs4348159 0.17671
NM_145861.4(EDARADD):c.*1787C>T rs6428955 0.17627
NM_024079.5(ALG8):c.665A>G (p.Asn222Ser) rs665278 0.17617
NM_000350.3(ABCA4):c.6764G>T (p.Ser2255Ile) rs6666652 0.17582
NM_015080.4(NRXN2):c.242T>A (p.Leu81Gln) rs12273892 0.17576
NC_000002.12:g.26244785C>T rs72809668 0.17558
NM_000383.4(AIRE):c.99T>C (p.Ala33=) rs3746964 0.17550
NR_003051.4(RMRP):n.158G>C rs7021463 0.17549
NM_015214.3(DDHD2):c.557C>T (p.Thr186Met) rs2306899 0.17541
NM_000742.4(CHRNA2):c.351C>T (p.Asp117=) rs2565061 0.17492
NM_001164508.2(NEB):c.16911A>G (p.Pro5637=) rs33988153 0.17490
NM_004168.4(SDHA):c.1969G>A (p.Val657Ile) rs6962 0.17489
NM_014141.6(CNTNAP2):c.1659G>A (p.Ala553=) rs34592169 0.17471
NM_001330078.2(NRXN1):c.511C>T (p.Leu171=) rs1045874 0.17452
NM_001355436.2(SPTB):c.6023-8C>T rs56181906 0.17449
NM_020987.5(ANK3):c.1218T>C (p.Ile406=) rs2297979 0.17447
NM_005045.4(RELN):c.10074A>G (p.Ala3358=) rs1062831 0.17444
NM_020549.5(CHAT):c.358G>A (p.Ala120Thr) rs3810950 0.17408
NM_001371623.1(TCOF1):c.1578C>T (p.Pro526=) rs2071238 0.17396
NM_002633.3(PGM1):c.*93A>C rs4643 0.17395
NM_002633.3(PGM1):c.*22C>T rs8294 0.17388
NM_017866.6(TMEM70):c.100G>C (p.Ala34Pro) rs8075 0.17369
NM_053025.4(MYLK):c.62C>A (p.Pro21His) rs28497577 0.17349
NM_001710.5(CFB):c.94C>T (p.Arg32Trp) rs12614 0.17324
NM_018344.5(SLC29A3):c.-63C>T rs72542481 0.17298
NM_000057.4(BLM):c.3102G>A (p.Thr1034=) rs2227933 0.17282
NM_005045.4(RELN):c.7887T>C (p.Pro2629=) rs56345626 0.17245
NM_001267550.2(TTN):c.2432C>T (p.Thr811Ile) rs35813871 0.17153
NM_001384732.1(CPLANE1):c.6098T>G (p.Phe2033Cys) rs10076911 0.17153
NM_001267550.2(TTN):c.8902+14del rs573000455 0.17128
NM_001267550.2(TTN):c.8902+16del rs570467105 0.17084
NM_001355436.2(SPTB):c.5799-7C>T rs7142689 0.17051
NM_003070.5(SMARCA2):c.4638C>G (p.Asp1546Glu) rs2296212 0.17040
NM_017755.6(NSUN2):c.1749G>A (p.Thr583=) rs13181449 0.17015
NM_000431.4(MVK):c.510C>T (p.Asp170=) rs2287218 0.16987
NM_000540.3(RYR1):c.7863C>T (p.His2621=) rs2229142 0.16968
NM_018249.6(CDK5RAP2):c.1483-29T>G rs2490594 0.16966
NM_020975.6(RET):c.2071G>A (p.Gly691Ser) rs1799939 0.16948
NM_000152.5(GAA):c.-260G>C rs2304849 0.16933
NM_000203.5(IDUA):c.1360G>A (p.Val454Ile) rs73066479 0.16867
NM_000684.3(ADRB1):c.145A>G (p.Ser49Gly) rs1801252 0.16847
NM_000335.5(SCN5A):c.1141-3C>A rs41312433 0.16844
NM_138959.3(VANGL1):c.*4504C>T rs17034228 0.16812
NM_000769.4(CYP2C19):c.681G>A (p.Pro227=) rs4244285 0.16806
NM_001123385.2(BCOR):c.4977-4G>T rs5963725 0.16776
NM_002778.4(PSAP):c.1350+5G>A rs11000016 0.16762
NM_000222.3(KIT):c.2586G>C (p.Leu862=) rs3733542 0.16755
NM_022095.4(ZNF335):c.3522A>T (p.Pro1174=) rs16990951 0.16743
NM_173630.4(RTTN):c.6144A>G (p.Val2048=) rs2304378 0.16737
NM_002156.5(HSPD1):c.69T>C (p.Thr23=) rs1050347 0.16721
NM_000154.2(GALK1):c.1108-40C>T rs743554 0.16712
NM_000834.5(GRIN2B):c.4197T>C (p.His1399=) rs1805247 0.16667
NM_000207.3(INS):c.*9C>T rs3842752 0.16663
NM_002469.3(MYF6):c.*152C>A rs3120 0.16661
NM_004181.5(UCHL1):c.53C>A (p.Ser18Tyr) rs5030732 0.16658
NM_001692.4(ATP6V1B1):c.89C>T (p.Thr30Ile) rs17720303 0.16644
NM_000352.6(ABCC8):c.1947G>A (p.Lys649=) rs1799858 0.16638
NM_138959.3(VANGL1):c.*6212C>T rs3811006 0.16608
NM_001166114.2(PNPLA6):c.1207G>C (p.Ala403Pro) rs17854645 0.16605
NM_138959.3(VANGL1):c.*5266C>T rs17034230 0.16603
NM_001267550.2(TTN):c.25274G>A (p.Ser8425Asn) rs13390491 0.16593
NM_198709.3(ARSB):c.-311+87A>G rs59558132 0.16591
NM_001103.4(ACTN2):c.2610G>A (p.Ser870=) rs12063382 0.16579
NM_000289.6(PFKM):c.299G>A (p.Arg100Gln) rs2228500 0.16574
NM_001365088.1(SLC12A6):c.1333+20G>T rs2290941 0.16573
NM_001122955.4(BSCL2):c.1137A>G (p.Glu379=) rs6856 0.16571
NM_001355436.2(SPTB):c.6269+13C>T rs11622977 0.16547
NM_001267550.2(TTN):c.98098+9T>A rs2288325 0.16490
NM_000384.3(APOB):c.12541G>A (p.Glu4181Lys) rs1042031 0.16481
NM_206937.2(LIG4):c.26C>T (p.Thr9Ile) rs1805388 0.16468
NM_016379.4(VCX3A):c.478G>A (p.Val160Met) rs35874450 0.16444
NM_001267550.2(TTN):c.22384G>C (p.Asp7462His) rs12693166 0.16435
NM_020247.5(COQ8A):c.117G>A (p.Ala39=) rs11549708 0.16388
NM_000455.5(STK11):c.920+7G>C rs2075607 0.16357
NM_014687.4(RUBCN):c.237G>T (p.Thr79=) rs60457064 0.16343
NM_153006.3(NAGS):c.1086T>C (p.Phe362=) rs55708447 0.16339
NM_002633.3(PGM1):c.262A>G (p.Ile88Val) rs855314 0.16313
NM_152564.5(VPS13B):c.9492T>C (p.Ser3164=) rs36074608 0.16279
NM_138413.4(HOGA1):c.700+67G>A rs2297643 0.16278
NM_000073.3(CD3G):c.391G>T (p.Val131Phe) rs3753058 0.16277
NM_001267550.2(TTN):c.24431A>C (p.Glu8144Ala) rs16866465 0.16270
NM_001142800.2(EYS):c.1922A>T (p.Glu641Val) rs17411795 0.16264
NM_015158.5(KANK1):c.200G>A (p.Arg67Gln) rs7860464 0.16207
NM_001267550.2(TTN):c.26408A>G (p.Asn8803Ser) rs12693164 0.16204
NM_000130.5(F5):c.3853C>A (p.Leu1285Ile) rs1046712 0.16200
NC_000010.11:g.70888579C>T rs827237 0.16151
NM_002711.4(PPP1R3A):c.2713G>T (p.Asp905Tyr) rs1799999 0.16138
NM_001365088.1(SLC12A6):c.2803-25T>C rs17817806 0.16133
NC_000005.10:g.78986206T>C rs57586329 0.16084
NM_000041.4(APOE):c.388T>C (p.Cys130Arg) rs429358 0.16059
NR_028089.1(NXF5):n.1047T>C rs4021041 0.16013
NM_005334.3(HCFC1):c.4542G>T (p.Leu1514=) rs3027878 0.16009
NM_001365088.1(SLC12A6):c.-72-71G>A rs73374490 0.15978
NM_014236.4(GNPAT):c.1556A>G (p.Asp519Gly) rs11558492 0.15945
NC_000019.10:g.35852007A>G rs401824 0.15935
NM_006946.4(SPTBN2):c.3101T>C (p.Val1034Ala) rs506028 0.15920
NM_001253852.3(AP4B1):c.576C>T (p.Gly192=) rs17464525 0.15901
NM_001083962.2(TCF4):c.305-165C>T rs17522826 0.15868
NM_003690.5(PRKRA):c.-24G>A rs62176113 0.15862
NM_053025.4(MYLK):c.782T>C (p.Val261Ala) rs3796164 0.15859
NM_001379500.1(COL18A1):c.2620+29C>T rs73370840 0.15840
NM_000795.4(DRD2):c.811-83G>T rs1076560 0.15827
NM_001385161.1(MR1):c.116A>G (p.His39Arg) rs2236410 0.15815
NM_001371623.1(TCOF1):c.3530C>G (p.Pro1177Arg) rs1136103 0.15799
NM_004933.3(CDH15):c.1023G>A (p.Ser341=) rs72819366 0.15790
NM_001163809.2(WDR81):c.1716C>T (p.His572=) rs80035274 0.15722
NM_002796.3(PSMB4):c.701T>C (p.Ile234Thr) rs4603 0.15717
NM_001378615.1(CC2D2A):c.124-6C>T rs1861049 0.15686
NM_000340.2(SLC2A2):c.594G>A (p.Thr198=) rs5404 0.15665
NM_000368.5(TSC1):c.1335A>G (p.Glu445=) rs7862221 0.15655
NM_018648.4(NOP10):c.*136T>C rs3063 0.15629
NM_004525.3(LRP2):c.5859A>G (p.Arg1953=) rs11886219 0.15625
NM_001040436.3(YARS2):c.*209G>C rs10844337 0.15609
NM_012062.5(DNM1L):c.*271C>G rs1020670 0.15598
NM_080473.5(GATA5):c.199A>C (p.Thr67Pro) rs6142775 0.15591
NM_014694.4(ADAMTSL2):c.1641C>T (p.His547=) rs7868941 0.15561
NM_001376.5(DYNC1H1):c.3600A>G (p.Gln1200=) rs12893215 0.15549
NM_032119.4(ADGRV1):c.18433-16T>C rs72784680 0.15549
NM_012062.5(DNM1L):c.*21G>C rs1059422 0.15548
NC_000019.10:g.39252525T>G rs8099917 0.15536
NM_080605.4(B3GALT6):c.138C>T (p.Ser46=) rs190796582 0.15534
NM_000057.4(BLM):c.3945C>T (p.Leu1315=) rs1063147 0.15526
NM_000057.4(BLM):c.3531C>A (p.Ala1177=) rs2227934 0.15517
NM_001384732.1(CPLANE1):c.4080+27C>T rs78164677 0.15457
NM_000030.3(AGXT):c.1020A>G (p.Ile340Met) rs4426527 0.15412
NM_032119.4(ADGRV1):c.3141A>G (p.Ala1047=) rs950692 0.15398
NM_032119.4(ADGRV1):c.13599A>G (p.Thr4533=) rs17554631 0.15392
NM_000368.5(TSC1):c.965T>C (p.Met322Thr) rs1073123 0.15387
NM_004525.3(LRP2):c.11601T>C (p.Cys3867=) rs2229268 0.15380
NM_000443.4(ABCB4):c.1954A>G (p.Arg652Gly) rs2230028 0.15378
NM_000314.8(PTEN):c.-511G>A rs12573787 0.15371
NM_000361.3(THBD):c.1418C>T (p.Ala473Val) rs1042579 0.15322
NM_000552.5(VWF):c.954T>A (p.Asn318Lys) rs1800387 0.15296
NM_005141.4(FGB):c.1433G>A (p.Arg478Lys) rs4220 0.15295
NM_012062.5(DNM1L):c.*22A>T rs3200103 0.15233
NM_001303.3(COX10):c.-109G>A rs28680987 0.15186
NM_000231.3(SGCG):c.228T>C (p.Asp76=) rs1800350 0.15152
NM_002843.4(PTPRJ):c.827A>C (p.Gln276Pro) rs1566734 0.15145
NM_003383.5(VLDLR):c.1187-3C>T rs11789583 0.15129
NM_005120.3(MED12):c.5401-25C>T rs41298482 0.15124
NM_000231.3(SGCG):c.-88G>A rs4770403 0.15108
NM_001384732.1(CPLANE1):c.5901-3T>C rs10805625 0.15103
NM_012472.6(DNAAF11):c.1397T>C (p.Ile466Thr) rs9297853 0.15090
NM_025099.6(CTC1):c.990C>T (p.Asp330=) rs74506939 0.15072
NM_014687.4(RUBCN):c.1188T>C (p.Thr396=) rs28394098 0.15053
NM_001365276.2(TNXB):c.2761T>G (p.Ser921Ala) rs204900 0.14952
NM_182961.4(SYNE1):c.17745C>T (p.His5915=) rs12664753 0.14950
NM_001130987.2(DYSF):c.1276+11C>T rs35982795 0.14937
NM_133259.4(LRPPRC):c.1068A>G (p.Gln356=) rs4953042 0.14931
NM_000552.5(VWF):c.6846A>G (p.Thr2282=) rs1053523 0.14911
NM_001365276.2(TNXB):c.6379G>A (p.Val2127Met) rs9469081 0.14896
NM_001277115.2(DNAH11):c.1916A>G (p.Gln639Arg) rs12670130 0.14853
NM_024757.5(EHMT1):c.1044G>A (p.Ser348=) rs1129767 0.14787
NM_000186.4(CFH):c.2808G>T (p.Glu936Asp) rs1065489 0.14779
NM_001376.5(DYNC1H1):c.8928A>G (p.Leu2976=) rs8010870 0.14754
NM_006214.4(PHYH):c.85C>T (p.Pro29Ser) rs28938169 0.14735
NM_032119.4(ADGRV1):c.9743G>A (p.Gly3248Asp) rs16869032 0.14695
NM_201384.3(PLEC):c.3757-9A>G rs57461687 0.14687
NM_024580.6(EFL1):c.1849A>G (p.Ile617Val) rs1128431 0.14560
NM_018129.4(PNPO):c.165C>T (p.Ser55=) rs11079804 0.14534
NM_004281.4(BAG3):c.451T>C (p.Cys151Arg) rs2234962 0.14532
NM_173076.3(ABCA12):c.709A>C (p.Asn237His) rs11890512 0.14531
NM_014208.3(DSPP):c.202A>T (p.Arg68Trp) rs36094464 0.14530
NM_032409.3(PINK1):c.*415C>G rs8064 0.14517
NM_170784.3(MKKS):c.534C>T (p.Ile178=) rs17852625 0.14499
NM_001849.4(COL6A2):c.2979C>T (p.Arg993=) rs6652 0.14487
NM_017755.6(NSUN2):c.2193C>T (p.Asp731=) rs3822434 0.14485
NM_021922.3(FANCE):c.856-70G>A rs9470033 0.14481
NM_000742.4(CHRNA2):c.65C>T (p.Thr22Ile) rs2472553 0.14475
NM_021922.3(FANCE):c.1316+19G>A rs6457823 0.14473
NM_138694.4(PKHD1):c.6490+62A>G rs12196767 0.14472
NM_001267550.2(TTN):c.97613G>A (p.Arg32538His) rs3731749 0.14445
NM_178857.6(RP1L1):c.4004G>T (p.Gly1335Val) rs74366179 0.14443
NM_001042465.2(PSAP):c.-130T>C rs12261323 0.14433
NM_001365276.2(TNXB):c.11412T>C (p.Asp3804=) rs2894232 0.14383
NM_014846.4(WASHC5):c.3291G>A (p.Ala1097=) rs11542889 0.14383
NM_006059.4(LAMC3):c.3507C>T (p.Thr1169=) rs3818800 0.14367
NM_022124.6(CDH23):c.4846-79G>A rs41281328 0.14363
CYP2D6*4 rs3892097 0.14340
NM_001040436.3(YARS2):c.572G>T (p.Gly191Val) rs11539445 0.14334
NM_001365276.2(TNXB):c.7790G>A (p.Arg2597Gln) rs2066982 0.14331
NM_000152.5(GAA):c.2331+24T>C rs2304831 0.14320
NM_001142864.4(PIEZO1):c.2992-23A>G rs76070043 0.14300
NC_000022.11:g.30607082C>T rs5753231 0.14252
NM_015272.5(RPGRIP1L):c.3428C>G (p.Thr1143Ser) rs111775292 0.14245
NM_003619.4(PRSS12):c.1816G>T (p.Ala606Ser) rs28661939 0.14235
NM_000282.4(PCCA):c.637+102A>G rs539158 0.14189
NM_000064.4(C3):c.304C>G (p.Arg102Gly) rs2230199 0.14187
NM_001114753.3(ENG):c.207G>A (p.Leu69=) rs11545664 0.14184
NM_170784.3(MKKS):c.1595G>T (p.Gly532Val) rs1545 0.14147
NM_024757.5(EHMT1):c.3375-9A>C rs73578877 0.14146
NM_022124.6(CDH23):c.5411G>A (p.Arg1804Gln) rs3802711 0.14136
NM_000093.5(COL5A1):c.4122G>A (p.Thr1374=) rs3827848 0.14130
NM_001127222.2(CACNA1A):c.3057G>A (p.Arg1019=) rs16025 0.14118
NM_000352.6(ABCC8):c.2485C>T (p.Leu829=) rs1805036 0.14090
NM_012233.3(RAB3GAP1):c.1793A>G (p.Asn598Ser) rs10445686 0.14088
NM_001039591.3(USP9X):c.4234-18A>C rs781379769 0.14073
NM_000393.5(COL5A2):c.852+14C>T rs56310996 0.14063
NM_000130.5(F5):c.319G>C (p.Asp107His) rs6019 0.14054
NM_013382.7(POMT2):c.1654-6A>G rs4540995 0.14051
NM_001040436.3(YARS2):c.291C>T (p.Gly97=) rs11539444 0.14047
NM_181507.2(HPS5):c.824+34A>C rs7122032 0.14035
NM_024301.5(FKRP):c.135C>T (p.Ala45=) rs2287717 0.14031
NM_022114.4(PRDM16):c.1898C>T (p.Pro633Leu) rs2493292 0.14020
NM_024580.6(EFL1):c.2132A>G (p.Lys711Arg) rs2292071 0.13997
NM_182758.4(WDR72):c.2341A>G (p.Lys781Glu) rs60404950 0.13988
NM_003244.4(TGIF1):c.420A>G (p.Pro140=) rs2229337 0.13985
NM_000306.4(POU1F1):c.*139T>A rs4988463 0.13978
NM_182758.4(WDR72):c.2724A>G (p.Leu908=) rs16966318 0.13977
NM_002691.4(POLD1):c.463+8G>T rs1726802 0.13968
NM_001184.4(ATR):c.3726-47A>G rs73240314 0.13934
NM_006420.3(ARFGEF2):c.4131C>T (p.Ile1377=) rs2281582 0.13916
NM_001002294.3(FMO3):c.923A>G (p.Glu308Gly) rs2266780 0.13897
NM_015346.4(ZFYVE26):c.2559G>A (p.Leu853=) rs7143196 0.13893
NM_003383.5(VLDLR):c.2067A>G (p.Gln689=) rs6148 0.13882
NC_000015.10:g.34343168A>G rs2169480 0.13873
NM_000085.5(CLCNKB):c.1441A>T (p.Thr481Ser) rs12140311 0.13867
NM_000545.8(HNF1A):c.1545G>A (p.Thr515=) rs55834942 0.13864
NM_030928.4(CDT1):c.549A>G (p.Gly183=) rs1834065 0.13858
NM_001130987.2(DYSF):c.396C>T (p.Pro132=) rs34603128 0.13857
NM_139343.3(BIN1):c.957C>T (p.Ala319=) rs2276579 0.13837
NM_001277115.2(DNAH11):c.11202+13G>A rs73279830 0.13824
NM_022124.6(CDH23):c.*204A>G rs2290022 0.13799
NM_004415.4(DSP):c.4535A>G (p.Tyr1512Cys) rs2076299 0.13777
NM_001999.4(FBN2):c.111G>A (p.Pro37=) rs55715053 0.13775
NM_198282.4(STING1):c.212G>A (p.Arg71His) rs11554776 0.13741
NM_003690.5(PRKRA):c.677T>A (p.Ile226Asn) rs77419724 0.13676
NM_000302.4(PLOD1):c.358G>T (p.Ala120Ser) rs2273285 0.13670
NM_001143992.2(WRAP53):c.450C>T (p.Phe150=) rs2287498 0.13667
NM_001365276.2(TNXB):c.1532G>A (p.Arg511His) rs204896 0.13652
NM_003194.5(TBP):c.231del (p.Gln77fs) rs770128377 0.13566
NC_000002.12:g.174764872T>C rs16862847 0.13535
NM_001378615.1(CC2D2A):c.2182-24C>T rs2041673 0.13533
NM_018006.5(TRMU):c.28G>T (p.Ala10Ser) rs11090865 0.13476
NM_001201550.3(CFHR4):c.1530A>T (p.Pro510=) rs150845796 0.13447
NM_001270508.2(TNFAIP3):c.380T>G (p.Phe127Cys) rs2230926 0.13432
NM_000064.4(C3):c.941C>T (p.Pro314Leu) rs1047286 0.13429
NM_000355.4(TCN2):c.67A>G (p.Ile23Val) rs9606756 0.13429
NM_206937.2(LIG4):c.1704T>C (p.Asp568=) rs1805386 0.13426
NM_001267550.2(TTN):c.59585C>T (p.Pro19862Leu) rs16866406 0.13367
NM_001267550.2(TTN):c.58436G>A (p.Arg19479His) rs2288569 0.13356
NM_000500.9(CYP21A2):c.806G>C (p.Ser269Thr) rs6472 0.13352
NM_001127222.2(CACNA1A):c.2975A>T (p.Glu992Val) rs16023 0.13336
NM_001063.4(TF):c.1765C>T (p.Pro589Ser) rs1049296 0.13332
NM_000350.3(ABCA4):c.6249C>T (p.Ile2083=) rs1801359 0.13311
NM_004113.6(FGF12):c.229-9T>C rs79176051 0.13309
NM_000350.3(ABCA4):c.6282+7G>A rs17110761 0.13306
NM_182961.4(SYNE1):c.22671C>T (p.Ile7557=) rs3798756 0.13297
NM_001267550.2(TTN):c.103781G>A (p.Arg34594His) rs3829747 0.13294
NM_006904.7(PRKDC):c.10301T>C (p.Ile3434Thr) rs7830743 0.13283
NM_001130987.2(DYSF):c.888+11T>C rs13428076 0.13265
NM_182758.4(WDR72):c.2497T>G (p.Ser833Ala) rs16966320 0.13238
NM_000393.5(COL5A2):c.568-10G>A rs58106884 0.13232
NM_024596.5(MCPH1):c.2045C>A (p.Thr682Asn) rs12674488 0.13225
NM_001267550.2(TTN):c.74839C>T (p.Arg24947Cys) rs744426 0.13213
NM_000506.5(F2):c.494C>T (p.Thr165Met) rs5896 0.13207
NM_001099667.3(ARMS2):c.112C>T (p.Arg38Ter) rs2736911 0.13199
NM_014363.6(SACS):c.171+6C>T rs3751368 0.13186
NM_000179.3(MSH6):c.260+22C>G rs55927047 0.13136
NM_000271.5(NPC1):c.387T>C (p.Tyr129=) rs12970899 0.13133
NM_181332.3(NLGN4X):c.933C>T (p.Thr311=) rs7049300 0.13090
NM_001368809.2(AMPD2):c.82G>A (p.Ala28Thr) rs28362581 0.13084
NM_018389.5(SLC35C1):c.718A>G (p.Ile240Val) rs7130656 0.12992
NM_001142800.2(EYS):c.1712A>G (p.Gln571Arg) rs61753610 0.12981
NM_024675.4(PALB2):c.1676A>G (p.Gln559Arg) rs152451 0.12980
NM_017875.4(SLC25A38):c.*588T>A rs6890 0.12968
NM_016013.4(NDUFAF1):c.941C>G (p.Ala314Gly) rs12900702 0.12962
NM_000235.4(LIPA):c.67G>A (p.Gly23Arg) rs1051339 0.12955
NM_013382.7(POMT2):c.1786-39C>T rs438931 0.12941
NM_000767.5(CYP2B6):c.785A>G (p.Lys262Arg) rs2279343 0.12936
NM_002470.4(MYH3):c.349-36A>G rs2285467 0.12931
NM_000548.5(TSC2):c.482-3C>T rs1800720 0.12927
NM_006493.4(CLN5):c.*292G>A rs700363 0.12906
NM_001378615.1(CC2D2A):c.2830-38G>T rs35309200 0.12892
NM_001365276.2(TNXB):c.7483G>A (p.Gly2495Ser) rs2269429 0.12889
NM_024596.5(MCPH1):c.2214+13841A>G rs2916747 0.12886
NM_022124.6(CDH23):c.3431-133T>C rs12263420 0.12876
NM_003119.4(SPG7):c.1507A>G (p.Thr503Ala) rs2292954 0.12849
NM_006493.4(CLN5):c.-144C>T rs77416795 0.12832
NM_001159387.2(B4GALNT2):c.1216T>C (p.Cys406Arg) rs7224888 0.12829
NM_000016.6(ACADM):c.-362T>C rs1251076 0.12826
NM_015335.5(MED13L):c.2013-7C>T rs199749418 0.12825
NM_001079802.2(FKTN):c.*5618T>A rs1048215 0.12807
NM_003119.4(SPG7):c.2063G>A (p.Arg688Gln) rs12960 0.12801
NM_148919.4(PSMB8):c.145C>A (p.Gln49Lys) rs2071543 0.12793
NM_016358.3(IRX4):c.1203G>A (p.Ala401=) rs1689717 0.12779
NM_001042492.3(NF1):c.6642+45T>A rs17883614 0.12771
NM_000521.4(HEXB):c.619A>G (p.Ile207Val) rs10805890 0.12761
NM_000212.3(ITGB3):c.176T>C (p.Leu59Pro) rs5918 0.12746
NM_000265.7(NCF1):c.345C>T (p.Leu115=) rs17356100 0.12720
NM_001128164.2(ATXN1):c.474A>G (p.Ala158=) rs2072736 0.12678
NM_001148.6(ANK2):c.7106T>C (p.Val2369Ala) rs28377576 0.12654
NM_006757.4(TNNT3):c.762C>T (p.Gly254=) rs4727 0.12645
NM_001364905.1(LRBA):c.3269C>G (p.Ala1090Gly) rs1782360 0.12638
NM_001127701.1(SERPINA1):c.374G>A (p.Arg125His) rs709932 0.12614
NM_014694.4(ADAMTSL2):c.2022C>T (p.Pro674=) rs534165083 0.12576
NM_001277115.2(DNAH11):c.1065A>G (p.Pro355=) rs4392792 0.12564
NM_213607.3(DNAAF19):c.276+6T>C rs74349463 0.12523
NM_003001.5(SDHC):c.77+32A>T rs77828459 0.12478
NM_014694.4(ADAMTSL2):c.2613G>A (p.Val871=) rs62637566 0.12459
NM_181882.3(PRX):c.3248C>G (p.Pro1083Arg) rs3745202 0.12427
NM_181882.3(PRX):c.306C>T (p.Thr102=) rs744389 0.12409
NM_002875.5(RAD51):c.-98G>C rs1801320 0.12401
NM_000158.4(GBE1):c.-102C>T rs78982329 0.12399
NM_006446.5(SLCO1B1):c.463C>A (p.Pro155Thr) rs11045819 0.12387
NM_000466.3(PEX1):c.-137T>C rs12386601 0.12381
NM_182961.4(SYNE1):c.12276C>T (p.Leu4092=) rs71575926 0.12377
NM_003839.4(TNFRSF11A):c.421C>T (p.His141Tyr) rs35211496 0.12362
NM_020987.5(ANK3):c.4201-3T>C rs2393595 0.12356
NM_001735.3(C5):c.433G>A (p.Val145Ile) rs17216529 0.12340
NM_006031.6(PCNT):c.640-38T>G rs2839216 0.12326
NM_030777.4(SLC2A10):c.616G>A (p.Ala206Thr) rs2235491 0.12280
NM_001079802.2(FKTN):c.*786T>G rs10978177 0.12279
NM_000173.7(GP1BA):c.482C>T (p.Thr161Met) rs6065 0.12253
NM_004525.3(LRP2):c.7626C>G (p.Arg2542=) rs13397109 0.12249
NM_006031.6(PCNT):c.3465-40C>T rs7279052 0.12246
NM_020822.3(KCNT1):c.2944-19T>C rs759060806 0.12219
NM_001386140.1(MTTP):c.522T>C (p.Cys174=) rs982424 0.12191
NM_020320.5(RARS2):c.1704A>G (p.Lys568=) rs8802 0.12189
NM_001376.5(DYNC1H1):c.12087C>A (p.His4029Gln) rs10129889 0.12179
NM_001079802.2(FKTN):c.*1133A>G rs2768282 0.12157
NM_054012.4(ASS1):c.501C>T (p.His167=) rs10901072 0.12154
NM_207346.3(TSEN54):c.370-19C>A rs56895494 0.12137
NM_001079802.2(FKTN):c.*2280T>C rs1024366 0.12115
NM_001365276.2(TNXB):c.11531-36C>A rs71565305 0.12112
NM_133433.4(NIPBL):c.3575-17A>G rs78827246 0.12109
NM_000354.5(SERPINA7):c.909G>T (p.Leu303Phe) rs1804495 0.12108
NM_006446.5(SLCO1B1):c.521T>C (p.Val174Ala) rs4149056 0.12106
NM_005619.5(RTN2):c.96T>C (p.Ser32=) rs10401270 0.12040
NM_001034853.2(RPGR):c.3396C>T (p.Asn1132=) rs12687163 0.12023
NM_001734.5(C1S):c.356G>A (p.Arg119His) rs12146727 0.12011
NM_152443.3(RDH12):c.482G>A (p.Arg161Gln) rs17852293 0.12003
NC_000018.10:g.23586581G>C rs8099071 0.11990
NM_005535.3(IL12RB1):c.467G>A (p.Arg156His) rs11575926 0.11978
NM_001377299.1(NDUFS2):c.1290C>T (p.Ala430=) rs1136207 0.11971
NM_000104.4(CYP1B1):c.1358A>G (p.Asn453Ser) rs1800440 0.11965
NM_025114.4(CEP290):c.2055T>C (p.Ala685=) rs45465996 0.11965
NM_001077418.3(TMEM231):c.16C>G (p.Leu6Val) rs3743601 0.11961
NM_002547.3(OPHN1):c.702+29G>A rs3788859 0.11936
NM_001127222.2(CACNA1A):c.2091G>A (p.Thr697=) rs16016 0.11927
NM_000130.5(F5):c.1538G>A (p.Arg513Lys) rs6020 0.11893
NM_001127222.2(CACNA1A):c.2751G>C (p.Glu917Asp) rs16022 0.11855
NM_000540.3(RYR1):c.10687-7C>T rs2960354 0.11845
NM_001698.3(AUH):c.483A>C (p.Ile161=) rs7874056 0.11827
NM_001368397.1(FRMPD4):c.1401C>G (p.Val467=) rs6641078 0.11823
NM_001710.5(CFB):c.95G>A (p.Arg32Gln) rs641153 0.11820
NM_152564.5(VPS13B):c.10219G>A (p.Gly3407Arg) rs6468694 0.11818
NM_006929.5(SKIC2):c.452A>G (p.Gln151Arg) rs438999 0.11787
NM_001277115.2(DNAH11):c.7570T>C (p.Leu2524=) rs2072220 0.11781
NM_001849.4(COL6A2):c.1609-10C>T rs17357592 0.11767
NM_001077365.2(POMT1):c.699+52C>T rs3887873 0.11757
NC_000001.11:g.119744240A>G rs17258425 0.11740
NM_001352514.2(HLCS):c.1275C>T (p.Ser425=) rs1065758 0.11730
NM_022124.6(CDH23):c.7C>T (p.Arg3Cys) rs7902757 0.11710
NM_015166.4(MLC1):c.895-9C>T rs11568185 0.11704
NM_001277115.2(DNAH11):c.5490G>A (p.Leu1830=) rs55666134 0.11695
NM_032790.4(ORAI1):c.121G>A (p.Gly41Arg) rs782650611 0.11673
NM_053025.4(MYLK):c.2582T>C (p.Leu861Pro) rs3732486 0.11664
NM_016277.5(RAB23):c.619G>A (p.Gly207Ser) rs1040461 0.11622
NM_002335.4(LRP5):c.2220C>T (p.Asn740=) rs2306862 0.11597
NM_017852.5(NLRP2):c.1566A>G (p.Glu522=) rs3745905 0.11595
NM_019616.4(F7):c.1172G>A (p.Arg391Gln) rs6046 0.11574
NM_000199.5(SGSH):c.89-45G>A rs9900509 0.11554
NM_001267550.2(TTN):c.92131G>A (p.Val30711Met) rs747122 0.11550
NM_015080.4(NRXN2):c.3327C>T (p.Gly1109=) rs3825074 0.11527
NM_017757.3(ZNF407):c.1534G>A (p.Gly512Arg) rs7227263 0.11518
NM_032119.4(ADGRV1):c.18741G>A (p.Gly6247=) rs13158963 0.11513
NM_017757.3(ZNF407):c.1263C>T (p.Leu421=) rs17817969 0.11505
NM_030665.4(RAI1):c.4311T>C (p.Pro1437=) rs4925112 0.11504
NM_032383.5(HPS3):c.*172G>A rs34511277 0.11504
NM_018194.6(HHAT):c.545G>A (p.Ser182Asn) rs2294851 0.11503
NM_001079802.2(FKTN):c.*5041G>A rs1854124 0.11478
NM_000435.3(NOTCH3):c.5526T>C (p.Ala1842=) rs16980398 0.11455
NM_014324.6(AMACR):c.717G>T (p.Gln239His) rs34677 0.11451
NM_001025603.2(RFX5):c.1226C>G (p.Pro409Arg) rs2233854 0.11448
NM_003002.4(SDHD):c.315-32T>C rs4151637 0.11444
NM_001282426.2(PIK3CG):c.1325C>A (p.Ser442Tyr) rs17847825 0.11435
NM_003002.4(SDHD):c.204C>T (p.Ser68=) rs9919552 0.11428
NM_000153.4(GALC):c.742G>A (p.Asp248Asn) rs34362748 0.11424
NM_020070.4(IGLL1):c.443C>T (p.Thr148Ile) rs73157031 0.11402
NM_001042432.2(CLN3):c.1211A>G (p.His404Arg) rs77595156 0.11398
NM_002691.4(POLD1):c.3218+10A>G rs2463239 0.11362
NM_001277115.2(DNAH11):c.1961C>G (p.Ser654Cys) rs62441683 0.11359
NM_000587.4(C7):c.1792A>T (p.Thr598Ser) rs60714178 0.11346
NM_004268.5(MED17):c.1092G>A (p.Pro364=) rs34057693 0.11341
NM_000552.5(VWF):c.1411G>A (p.Val471Ile) rs1800377 0.11338
NM_001164508.2(NEB):c.11077-4G>T rs878924060 0.11336
NM_001378373.1(MBL2):c.161G>A (p.Gly54Asp) rs1800450 0.11335
NM_203447.4(DOCK8):c.187G>A (p.Asp63Asn) rs3209441 0.11324
NM_001001331.4(ATP2B2):c.1551C>T (p.Gly517=) rs2289273 0.11318
NM_020361.5(CPA6):c.746A>G (p.Asn249Ser) rs17343819 0.11318
NM_021074.5(NDUFV2):c.201A>T (p.Val67=) rs41274300 0.11303
NM_173660.5(DOK7):c.-30G>T rs146168804 0.11265
NM_182961.4(SYNE1):c.24502G>T (p.Ala8168Ser) rs17082236 0.11250
NM_001733.7(C1R):c.550G>A (p.Glu184Lys) rs1126605 0.11245
NM_001267550.2(TTN):c.14525G>A (p.Arg4842Lys) rs2742347 0.11222
NM_032383.5(HPS3):c.*128A>G rs73019023 0.11195
NM_030928.4(CDT1):c.243T>C (p.Ser81=) rs475667 0.11192
NM_012301.4(MAGI2):c.2784T>C (p.Asn928=) rs1009524 0.11189
NM_138711.6(PPARG):c.1341C>T (p.His447=) rs3856806 0.11181
NM_001128225.3(SLC39A13):c.58A>G (p.Thr20Ala) rs61897432 0.11173
NM_000797.4(DRD4):c.860A>C (p.Gln287Pro) rs769762387 0.11156
NM_015166.4(MLC1):c.597A>G (p.Ser199=) rs6010164 0.11147
NM_015166.4(MLC1):c.594C>T (p.Tyr198=) rs6010165 0.11145
NM_005765.3(ATP6AP2):c.765T>C (p.Tyr255=) rs7691 0.11132
NM_017757.3(ZNF407):c.1578G>A (p.Thr526=) rs7227391 0.11111
NM_016495.6(TBC1D7):c.517T>C (p.Leu173=) rs482227 0.11098
NM_001194998.2(CEP152):c.87+26A>G rs72739872 0.11030
NM_000235.4(LIPA):c.*1093C>T rs13500 0.11025
NM_033380.3(COL4A5):c.1331T>G (p.Ile444Ser) rs2272946 0.11020
NM_000527.5(LDLR):c.1725C>T (p.Leu575=) rs1799898 0.11001
NM_000431.4(MVK):c.155G>A (p.Ser52Asn) rs7957619 0.10996
NM_022124.6(CDH23):c.8895C>T (p.Pro2965=) rs11000009 0.10970
NM_000388.4(CASR):c.2956G>T (p.Ala986Ser) rs1801725 0.10965
NC_000018.10:g.9134356C>G rs12454908 0.10963
NM_001287.6(CLCN7):c.1252G>A (p.Val418Met) rs12926089 0.10957
NM_001318777.2(TIRAP):c.539C>T (p.Ser180Leu) rs8177374 0.10946
NM_000081.4(LYST):c.2355T>C (p.Leu785=) rs3768066 0.10928
NM_015166.4(MLC1):c.978C>T (p.Cys326=) rs11568186 0.10918
NM_015166.4(MLC1):c.996T>C (p.Ser332=) rs11568187 0.10904
NM_198586.3(NHLRC1):c.312T>C (p.His104=) rs115931931 0.10897
NM_139027.6(ADAMTS13):c.2699C>T (p.Ala900Val) rs685523 0.10882
NM_015272.5(RPGRIP1L):c.3073G>A (p.Gly1025Ser) rs2111119 0.10881
NM_022124.6(CDH23):c.9319+11G>A rs11000013 0.10848
NM_000748.3(CHRNB2):c.210+9A>G rs3926124 0.10829
NM_000091.5(COL4A3):c.889-39T>C rs28470865 0.10824
NM_004855.5(PIGB):c.485T>C (p.Met162Thr) rs2290344 0.10822
NM_000051.4(ATM):c.5557G>A (p.Asp1853Asn) rs1801516 0.10783
NM_000199.5(SGSH):c.89-39G>A rs9900502 0.10774
NM_000261.2(MYOC):c.227G>A (p.Arg76Lys) rs2234926 0.10770
NM_006416.5(SLC35A1):c.887-14T>C rs56136150 0.10768
NM_000147.4(FUCA1):c.-86T>G rs2070953 0.10765
NM_005055.5(RAPSN):c.855G>A (p.Gln285=) rs45603036 0.10742
NM_003002.4(SDHD):c.170-29A>G rs9919624 0.10725
NM_002335.4(LRP5):c.3989C>T (p.Ala1330Val) rs3736228 0.10701
NM_012434.5(SLC17A5):c.246G>A (p.Ala82=) rs472294 0.10691
NM_001377405.1(ATXN7):c.2137C>T (p.Leu713=) rs3733125 0.10687
NM_004369.4(COL6A3):c.6945C>T (p.Phe2315=) rs2646265 0.10674
NM_001160372.4(TRAPPC9):c.2431+7G>A rs11166964 0.10663
NM_001232.4(CASQ2):c.*138T>C rs28730710 0.10658
NM_006446.5(SLCO1B1):c.411G>A (p.Ser137=) rs11045818 0.10656
NM_014141.6(CNTNAP2):c.2256-6A>T rs10240482 0.10641
NM_018249.6(CDK5RAP2):c.5578+48C>T rs10984902 0.10631
NM_000214.3(JAG1):c.588C>T (p.Cys196=) rs1801138 0.10620
NM_138959.3(VANGL1):c.*6721A>G rs17034249 0.10611
NM_144672.4(OTOA):c.2229C>T (p.Ala743=) rs461179 0.10607
NM_001160372.4(TRAPPC9):c.2292C>T (p.Gly764=) rs11166965 0.10598
NM_004369.4(COL6A3):c.7512C>T (p.Asn2504=) rs2646258 0.10598
NM_001142800.2(EYS):c.5244A>C (p.Leu1748Phe) rs57312007 0.10595
NM_001377405.1(ATXN7):c.791A>G (p.Lys264Arg) rs1053338 0.10578
NM_012210.4(TRIM32):c.1254G>A (p.Val418=) rs1661300 0.10569
NM_000141.5(FGFR2):c.557T>C (p.Met186Thr) rs755793 0.10553
NM_001184.4(ATR):c.1885+39T>C rs73240318 0.10546
NM_000383.4(AIRE):c.1095+6G>A rs1800525 0.10544
NM_015166.4(MLC1):c.512G>T (p.Cys171Phe) rs6010260 0.10544
NM_002693.3(POLG):c.3643+258A>G rs1860021 0.10541
NM_139281.3(WDR36):c.1717-20T>A rs59359951 0.10534
NM_015272.5(RPGRIP1L):c.3936C>T (p.Asp1312=) rs4784320 0.10532
NM_024589.3(ROGDI):c.414G>A (p.Thr138=) rs11553876 0.10521
NM_002024.6(FMR1):c.414G>A (p.Arg138=) rs25707 0.10515
NM_003859.3(DPM1):c.679-7A>T rs60224379 0.10515
NM_000543.5(SMPD1):c.1487-36C>T rs11601088 0.10497
NM_001142800.2(EYS):c.3568+99C>A rs62415853 0.10485
NM_000255.4(MMUT):c.1495G>A (p.Ala499Thr) rs2229385 0.10476
NM_001277115.2(DNAH11):c.3256-10C>G rs17745898 0.10468
NM_001365536.1(SCN9A):c.*1796C>T rs16851751 0.10438
NM_001384732.1(CPLANE1):c.5381C>T (p.Pro1794Leu) rs75589774 0.10422
NM_033337.3(CAV3):c.*543T>C rs13093809 0.10412
NM_001999.4(FBN2):c.183C>G (p.Pro61=) rs73348287 0.10362
NM_001267550.2(TTN):c.982C>T (p.Arg328Cys) rs16866538 0.10360
NM_019892.6(INPP5E):c.972A>G (p.Pro324=) rs10870199 0.10324
NM_003283.6(TNNT1):c.129-9T>G rs67795913 0.10318
NM_182961.4(SYNE1):c.26221C>A (p.Leu8741Met) rs2295190 0.10318
NM_001201543.2(FAM161A):c.1665G>A (p.Leu555=) rs6545910 0.10308
NM_000562.3(C8A):c.1681G>C (p.Glu561Gln) rs1342440 0.10306
NM_000113.3(TOR1A):c.646G>C (p.Asp216His) rs1801968 0.10301
NM_000124.4(ERCC6):c.411G>A (p.Leu137=) rs4253013 0.10284
NM_014795.4(ZEB2):c.917-21T>C rs35213774 0.10275
NM_001386140.1(MTTP):c.969T>C (p.Ala323=) rs17533489 0.10263
NM_022095.4(ZNF335):c.3384T>C (p.Pro1128=) rs3746503 0.10253
NM_000540.3(RYR1):c.7098C>T (p.Pro2366=) rs2229147 0.10248
NM_006059.4(LAMC3):c.75C>T (p.Cys25=) rs13286358 0.10217
NM_015631.6(TCTN3):c.193A>C (p.Thr65Pro) rs11553577 0.10199
NM_005411.5(SFTPA1):c.655C>T (p.Arg219Trp) rs4253527 0.10197
NM_000021.4(PSEN1):c.*3632G>A rs362393 0.10183
NM_001370466.1(NOD2):c.2717+158C>T rs5743289 0.10180
NM_138501.6(TECR):c.822C>T (p.Gly274=) rs61732092 0.10174
NM_001365276.2(TNXB):c.8111G>A (p.Arg2704His) rs10947230 0.10173
NM_000410.4(HFE):c.187C>G (p.His63Asp) rs1799945 0.10170
NM_001365276.2(TNXB):c.8791+35G>A rs11969759 0.10162
NM_001369.3(DNAH5):c.11372C>T (p.Thr3791Ile) rs17263496 0.10158
NM_001378615.1(CC2D2A):c.-19+37G>C rs6819598 0.10157
NM_002016.2(FLG):c.6190A>C (p.Lys2064Gln) rs74129455 0.10140
NM_005045.4(RELN):c.2989C>G (p.Leu997Val) rs362691 0.10133
NM_017721.5(CC2D1A):c.2716G>A (p.Ala906Thr) rs11669628 0.10133
NM_001041.4(SI):c.4026A>G (p.Thr1342=) rs74648160 0.10127
NM_000222.3(KIT):c.*217G>A rs17084733 0.10115
NM_004369.4(COL6A3):c.9213C>T (p.His3071=) rs2270671 0.10105
NM_001142800.2(EYS):c.4352T>C (p.Ile1451Thr) rs62415828 0.10103
NM_000512.5(GALNS):c.199C>A (p.Leu67Met) rs11862754 0.10099
NM_001142800.2(EYS):c.4081A>G (p.Ile1361Val) rs17403955 0.10092
NM_020921.4(NIN):c.5800C>G (p.Gln1934Glu) rs2295847 0.10087
NM_001142800.2(EYS):c.3973C>G (p.Gln1325Glu) rs12663622 0.10085
NC_000017.11:g.6435210G>T rs7211442 0.10081
NM_001365276.2(TNXB):c.7680C>T (p.Asp2560=) rs12196385 0.10077
NM_012282.4(KCNE5):c.97C>T (p.Pro33Ser) rs17003955 0.10059
NM_001146262.4(SYT14):c.1419T>C (p.Tyr473=) rs17188183 0.10051
NM_001377.3(DYNC2H1):c.8580A>G (p.Glu2860=) rs17394217 0.10011
NM_080605.4(B3GALT6):c.522G>C (p.Glu174Asp) rs12085009 0.10007
NM_000288.4(PEX7):c.340-103A>G rs2295592 0.10001
NM_000195.5(HPS1):c.1808A>G (p.Gln603Arg) rs2296436 0.09989
NM_000231.3(SGCG):c.347G>A (p.Arg116His) rs17314986 0.09986
NM_001267550.2(TTN):c.36655T>G (p.Leu12219Val) rs12994774 0.09975
NM_018100.4(EFHC1):c.*871C>G rs78956562 0.09975
NM_001164508.2(NEB):c.2944-9G>A rs13427102 0.09971
NM_213599.3(ANO5):c.*1521T>C rs73483433 0.09970
NM_001277115.2(DNAH11):c.54C>T (p.Thr18=) rs2285942 0.09968
NM_005751.5(AKAP9):c.7451A>G (p.Lys2484Arg) rs35759833 0.09968
NM_001267550.2(TTN):c.68217T>C (p.His22739=) rs10497517 0.09961
NM_000142.5(FGFR3):c.445+3A>G rs3135868 0.09950
NM_000709.3(BCKDHA):c.-34T>G rs45500792 0.09943
NM_206933.4(USH2A):c.4994T>C (p.Ile1665Thr) rs56222536 0.09942
NM_015215.4(CAMTA1):c.981C>T (p.Asn327=) rs3737906 0.09941
NM_000094.4(COL7A1):c.1784C>T (p.Pro595Leu) rs2228561 0.09897
NM_000337.6(SGCD):c.*4092A>G rs56389540 0.09897
NM_015166.4(MLC1):c.1031A>G (p.Asn344Ser) rs11568188 0.09887
NM_000180.4(GUCY2D):c.61T>C (p.Trp21Arg) rs9905402 0.09880
NM_033453.4(ITPA):c.124+21A>C rs7270101 0.09874
NM_001142800.2(EYS):c.3787A>G (p.Ile1263Val) rs17404123 0.09852
NM_001142800.2(EYS):c.4543C>T (p.Arg1515Trp) rs62415827 0.09842
NM_000435.3(NOTCH3):c.3058G>C (p.Ala1020Pro) rs35769976 0.09838
NM_001142800.2(EYS):c.5617C>G (p.Leu1873Val) rs16895517 0.09833
NM_000552.5(VWF):c.3240T>C (p.Tyr1080=) rs4021576 0.09832
NM_001142800.2(EYS):c.4549A>G (p.Ser1517Gly) rs62415826 0.09832
NM_024757.5(EHMT1):c.3000C>T (p.Pro1000=) rs35943616 0.09818
NM_001254.4(CDC6):c.438T>C (p.Cys146=) rs1130199 0.09815
NM_002294.3(LAMP2):c.*297A>C rs8160 0.09815
NM_198578.4(LRRK2):c.1653C>G (p.Asn551Lys) rs7308720 0.09815
NM_001365276.2(TNXB):c.7235C>T (p.Pro2412Leu) rs12524664 0.09804
NM_000492.4(CFTR):c.1210-13G>T rs10229820 0.09791
NM_213599.3(ANO5):c.*1313A>G rs73483432 0.09785
NM_002294.3(LAMP2):c.*486A>G rs5957383 0.09784
NM_000601.6(HGF):c.333A>G (p.Glu111=) rs5745635 0.09752
NM_000070.3(CAPN3):c.96T>C (p.Thr32=) rs1801496 0.09748
NM_015215.4(CAMTA1):c.3531C>G (p.Asn1177Lys) rs41278952 0.09746
NM_017433.5(MYO3A):c.1743G>A (p.Glu581=) rs41279908 0.09706
NM_201384.3(PLEC):c.9777T>A (p.Ser3259=) rs34644439 0.09690
NM_138694.4(PKHD1):c.8173+101A>T rs55777546 0.09689
NM_001378615.1(CC2D2A):c.2003+19C>T rs17476642 0.09677
NM_004168.4(SDHA):c.1170C>T (p.Phe390=) rs35277230 0.09677
NM_022168.4(IFIH1):c.1379A>G (p.His460Arg) rs10930046 0.09666
NC_000019.10:g.35648270G>A rs10420252 0.09658
NM_001130987.2(DYSF):c.951+4T>C rs11903960 0.09642
NM_001611.5(ACP5):c.442G>A (p.Val148Met) rs2305799 0.09611
NM_005142.3(CBLIF):c.68A>G (p.Gln23Arg) rs35211634 0.09596
NM_012156.2(EPB41L1):c.1338T>C (p.His446=) rs2295568 0.09595
NM_001384474.1(LOXHD1):c.2473G>A (p.Val825Met) rs36086089 0.09592
NM_013296.5(GPSM2):c.-258C>T rs35520362 0.09545
NM_014249.4(NR2E3):c.119-28T>C rs2742318 0.09545
NM_015426.5(POC1A):c.18+10G>A rs114209632 0.09530
NM_001034853.2(RPGR):c.1697G>A (p.Gly566Glu) rs1801688 0.09526
NM_016035.5(COQ4):c.318G>A (p.Ser106=) rs2270203 0.09525
NM_000256.3(MYBPC3):c.706A>G (p.Ser236Gly) rs3729989 0.09513
NM_000552.5(VWF):c.4665A>C (p.Ala1555=) rs1800384 0.09502
NM_001367624.2(ZNF469):c.1489G>A (p.Gly497Arg) rs28723506 0.09499
NM_004360.5(CDH1):c.1937-13T>C rs2276330 0.09486
NM_000552.5(VWF):c.4693G>T (p.Val1565Leu) rs1800385 0.09473
NM_017721.5(CC2D1A):c.252G>A (p.Pro84=) rs7250180 0.09465
NM_018648.4(NOP10):c.*149G>A rs7173 0.09458
NM_001009944.3(PKD1):c.10535C>T (p.Ala3512Val) rs34197769 0.09456
NM_013296.5(GPSM2):c.380G>A (p.Arg127Gln) rs41279678 0.09453
NM_015192.4(PLCB1):c.1251-4T>G rs2076689 0.09450
NM_001367624.2(ZNF469):c.6470G>A (p.Arg2157Lys) rs13334190 0.09442
NM_005045.4(RELN):c.1776A>G (p.Glu592=) rs2072403 0.09440
NM_006772.3(SYNGAP1):c.1851G>A (p.Glu617=) rs75579703 0.09434
NM_006118.4(HAX1):c.159T>C (p.Ser53=) rs13796 0.09423
NM_000350.3(ABCA4):c.1269C>T (p.His423=) rs4147831 0.09402
NM_005271.5(GLUD1):c.942A>G (p.Leu314=) rs9421572 0.09395
NM_000744.7(CHRNA4):c.189C>T (p.Leu63=) rs2273506 0.09394
NM_001243279.3(ACSF3):c.854C>T (p.Pro285Leu) rs143793502 0.09373
NM_001321142.2(CIDEC):c.33C>G (p.Leu11=) rs17851444 0.09372
NM_001365276.2(TNXB):c.12520G>A (p.Asp4174Asn) rs200523717 0.09372
NM_018668.5(VPS33B):c.151C>A (p.Arg51=) rs11542638 0.09363
NM_000092.5(COL4A4):c.17T>C (p.Ile6Thr) rs16823264 0.09359
NM_001953.5(TYMP):c.1412C>T (p.Ser471Leu) rs11479 0.09354
NM_004082.5(DCTN1):c.3610-20C>G rs2268427 0.09345
NM_014832.5(TBC1D4):c.606C>T (p.Phe202=) rs17254379 0.09341
NM_000393.5(COL5A2):c.3690A>C (p.Thr1230=) rs10197596 0.09320
NM_152564.5(VPS13B):c.7676T>C (p.Val2559Ala) rs7833870 0.09284
NM_015409.5(EP400):c.8181A>G (p.Gln2727=) rs10902490 0.09283
NM_000393.5(COL5A2):c.3720T>C (p.Tyr1240=) rs10208525 0.09281
NM_004483.5(GCSH):c.-4G>T rs779613867 0.09245
NM_139027.6(ADAMTS13):c.19C>T (p.Arg7Trp) rs34024143 0.09245
NM_001367721.1(CASK):c.1034-6C>T rs73470569 0.09241
NM_000080.4(CHRNE):c.1220-45C>T rs75492003 0.09239
NM_000702.4(ATP1A2):c.2259C>T (p.Ala753=) rs17846715 0.09239
NM_001267550.2(TTN):c.7545C>T (p.Tyr2515=) rs2291306 0.09235
NM_001848.3(COL6A1):c.1002+50C>A rs11702079 0.09228
NM_004744.5(LRAT):c.342G>A (p.Glu114=) rs17031981 0.09214
NM_015909.4(NBAS):c.6220G>A (p.Ala2074Thr) rs6710817 0.09205
NM_020632.3(ATP6V0A4):c.1739T>C (p.Met580Thr) rs3807153 0.09195
NM_002294.3(LAMP2):c.*3248G>A rs5957380 0.09182
NM_001371623.1(TCOF1):c.1761G>T (p.Gly587=) rs7701163 0.09176
NM_001849.4(COL6A2):c.1735-30A>G rs73382466 0.09173
NM_022124.6(CDH23):c.9873G>A (p.Thr3291=) rs2290021 0.09167
NM_000033.4(ABCD1):c.-59C>T rs4148030 0.09150
NM_001365951.3(KIF1B):c.4299A>G (p.Pro1433=) rs12125492 0.09146
NM_000426.4(LAMA2):c.3412G>A (p.Val1138Met) rs2306942 0.09135
NM_017852.5(NLRP2):c.585C>T (p.Phe195=) rs10403648 0.09127
NM_032444.4(SLX4):c.4739+24G>T rs12933120 0.09123
NM_020320.5(RARS2):c.872A>G (p.Lys291Arg) rs17850652 0.09110
NM_006514.4(SCN10A):c.1525T>C (p.Ser509Pro) rs7630989 0.09078
NM_018249.6(CDK5RAP2):c.4041G>A (p.Leu1347=) rs6478475 0.09053
NM_001377.3(DYNC2H1):c.5558+4A>G rs11225578 0.09042
NM_001384474.1(LOXHD1):c.2175C>T (p.Asn725=) rs2086005 0.09034
NM_003803.4(MYOM1):c.660T>C (p.Ser220=) rs2230166 0.09033
NM_000081.4(LYST):c.4392C>T (p.Asn1464=) rs11583387 0.09029
NM_021023.6(CFHR3):c.721C>T (p.Pro241Ser) rs138675433 0.09012
NM_005592.4(MUSK):c.206+28A>T rs75001517 0.09001
NM_025243.4(SLC19A3):c.1049T>C (p.Val350Ala) rs34507036 0.09001
NM_138711.6(PPARG):c.-8-28078C>G rs1801282 0.08996
CYP2C9*2 rs1799853 0.08975
NM_182961.4(SYNE1):c.8177+9C>T rs56877632 0.08971
NM_001267550.2(TTN):c.24516C>T (p.Thr8172=) rs72648978 0.08964
NM_001377.3(DYNC2H1):c.1021C>T (p.His341Tyr) rs17301182 0.08953
NM_003200.5(TCF3):c.1291G>A (p.Gly431Ser) rs1052692 0.08952
NM_004525.3(LRP2):c.2376T>C (p.Asp792=) rs33954745 0.08944
NM_000528.4(MAN2B1):c.1238A>G (p.Asn413Ser) rs35836657 0.08930
NM_002103.5(GYS1):c.*725C>T rs1042265 0.08927
NM_025265.4(TSEN2):c.-391G>A rs3806662 0.08918
NM_030665.4(RAI1):c.4530C>T (p.Pro1510=) rs35686634 0.08908
NM_014363.6(SACS):c.696T>A (p.Asn232Lys) rs2031640 0.08898
NM_000335.5(SCN5A):c.*753C>T rs41310757 0.08896
NM_001289125.3(IFNAR2):c.23T>C (p.Phe8Ser) rs2229207 0.08893
NM_139027.6(ADAMTS13):c.987+11C>T rs28729234 0.08893
NM_014363.6(SACS):c.1656A>G (p.Leu552=) rs1536365 0.08888
NM_001191061.2(SLC25A22):c.293+27G>A rs79478359 0.08883
NM_003597.5(KLF11):c.185A>G (p.Gln62Arg) rs35927125 0.08880
NM_182914.3(SYNE2):c.1721T>C (p.Ile574Thr) rs9944035 0.08879
NM_138691.3(TMC1):c.1713C>T (p.Phe571=) rs34532421 0.08866
NM_001142800.2(EYS):c.7666A>T (p.Ser2556Cys) rs66462731 0.08861
NM_000036.3(AMPD1):c.143C>T (p.Pro48Leu) rs61752479 0.08857
NM_001308093.3(GATA4):c.1132A>G (p.Ser378Gly) rs3729856 0.08851
NM_000079.4(CHRNA1):c.960C>T (p.His320=) rs2229957 0.08849
NM_005055.5(RAPSN):c.172C>T (p.Arg58Cys) rs34312154 0.08810
NM_006393.3(NEBL):c.2997A>G (p.Thr999=) rs2296614 0.08806
NM_025144.4(ALPK1):c.523A>G (p.Asn175Asp) rs6533616 0.08801
NM_021922.3(FANCE):c.970-84T>C rs3800376 0.08794
NM_182914.3(SYNE2):c.12001T>C (p.Trp4001Arg) rs2792205 0.08782
NM_080424.4(SP110):c.619G>A (p.Glu207Lys) rs9061 0.08779
NM_000214.3(JAG1):c.2214A>C (p.Thr738=) rs1801140 0.08777
NM_006493.4(CLN5):c.*155C>T rs700365 0.08776
NM_001377.3(DYNC2H1):c.3862A>G (p.Thr1288Ala) rs17301750 0.08745
NM_014625.4(NPHS2):c.1038A>G (p.Leu346=) rs3818587 0.08745
NM_182914.3(SYNE2):c.12002G>A (p.Trp4001Ter) rs2781377 0.08740
NM_031433.4(MFRP):c.1387+3G>A rs11217241 0.08734
NM_001386140.1(MTTP):c.294G>C (p.Glu98Asp) rs2306986 0.08726
NM_000036.3(AMPD1):c.34C>T (p.Gln12Ter) rs17602729 0.08701
NM_001611.5(ACP5):c.598G>A (p.Val200Met) rs2229531 0.08701
NM_000562.3(C8A):c.1724C>T (p.Pro575Leu) rs17300936 0.08699
NM_000388.4(CASR):c.2968A>G (p.Arg990Gly) rs1042636 0.08688
NM_002474.3(MYH11):c.987C>T (p.Thr329=) rs4781689 0.08684
NM_000337.6(SGCD):c.*3650G>T rs72803044 0.08674
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp) rs1050829 0.08672
NM_001368397.1(FRMPD4):c.2007T>C (p.Leu669=) rs67823099 0.08669
NM_153033.5(KCTD7):c.267G>A (p.Thr89=) rs3764904 0.08655
NM_000498.3(CYP11B2):c.1157T>C (p.Val386Ala) rs61757294 0.08654
NM_018718.2(CEP41):c.-144G>A rs10230435 0.08654
NM_032444.4(SLX4):c.1366+11T>C rs76350200 0.08654
NM_005094.4(SLC27A4):c.625G>A (p.Gly209Ser) rs2240953 0.08653
NM_000130.5(F5):c.1242A>G (p.Lys414=) rs6035 0.08632
NM_014208.3(DSPP):c.3695A>G (p.Asn1232Ser) rs111876111 0.08628
NM_012082.4(ZFPM2):c.2346G>C (p.Glu782Asp) rs2920048 0.08600
NM_201384.3(PLEC):c.12561C>T (p.Asp4187=) rs11998271 0.08588
NM_001277115.2(DNAH11):c.11272T>C (p.Ser3758Pro) rs17145720 0.08574
NM_002184.4(IL6ST):c.1361T>C (p.Ile454Thr) rs2228046 0.08566
NM_033100.4(CDHR1):c.863-9C>T rs4933977 0.08562
NM_001160372.4(TRAPPC9):c.399T>C (p.Ala133=) rs61739560 0.08550
NM_001160372.4(TRAPPC9):c.555G>A (p.Lys185=) rs57593250 0.08546
NM_001160372.4(TRAPPC9):c.357G>A (p.Gly119=) rs34457678 0.08545
NM_001126108.2(SLC12A3):c.2711G>A (p.Arg904Gln) rs11643718 0.08543
NM_003098.2(SNTA1):c.-255G>C rs57684257 0.08518
NM_004315.6(ASAH1):c.126+391T>G rs34466559 0.08517
NM_001165963.4(SCN1A):c.*1961C>T rs7577411 0.08473
NM_182476.3(COQ6):c.1016A>T (p.Asp339Val) rs2074930 0.08472
NM_213622.4(STAMBP):c.1218+20A>G rs2303987 0.08472
NM_182760.4(SUMF1):c.445-102T>C rs17040706 0.08470
NM_000334.4(SCN4A):c.2631T>C (p.Asp877=) rs79893125 0.08466
NM_001371623.1(TCOF1):c.3604-3C>T rs11743855 0.08455
NC_000002.12:g.127107332A>T rs56827597 0.08443
NM_001365650.1(ABHD5):c.-114A>G rs74845403 0.08432
NM_000516.7(GNAS):c.555C>T (p.Ile185=) rs8620 0.08427
NM_000406.2(GNRHR):c.-62G>A rs2627261 0.08412
NM_014625.4(NPHS2):c.288C>T (p.Ser96=) rs3738423 0.08404
NM_001267550.2(TTN):c.96158T>C (p.Ile32053Thr) rs62621236 0.08400
NM_002386.4(MC1R):c.488G>A (p.Arg163Gln) rs885479 0.08396
NM_001909.5(CTSD):c.465T>C (p.Thr155=) rs11555039 0.08391
NM_014687.4(RUBCN):c.230G>A (p.Arg77His) rs61743568 0.08379
NM_001365276.2(TNXB):c.3764G>A (p.Arg1255His) rs12211410 0.08362
NM_001267550.2(TTN):c.29153T>C (p.Ile9718Thr) rs4893852 0.08349
NM_001126108.2(SLC12A3):c.1925+72C>G rs12596776 0.08327
NM_014714.4(IFT140):c.1192G>A (p.Val398Ile) rs34762152 0.08326
NM_001386140.1(MTTP):c.497A>G (p.Asn166Ser) rs3792683 0.08314
NM_022124.6(CDH23):c.*510G>A rs1054635 0.08314
NM_001276345.2(TNNT2):c.237G>A (p.Ser79=) rs3729845 0.08311
NM_001164508.2(NEB):c.10707G>A (p.Lys3569=) rs6717213 0.08304
NM_000214.3(JAG1):c.267G>A (p.Gly89=) rs1051415 0.08298
NM_001077418.3(TMEM231):c.813G>A (p.Val271=) rs2242406 0.08287
NM_000392.5(ABCC2):c.4544G>A (p.Cys1515Tyr) rs8187710 0.08285
NM_014324.6(AMACR):c.*227T>G rs6863560 0.08265
NM_001127222.2(CACNA1A):c.3310G>A (p.Gly1104Ser) rs16027 0.08263
NM_001163809.2(WDR81):c.3831C>T (p.Ala1277=) rs12150338 0.08258
NM_001849.4(COL6A2):c.*116T>C rs3087667 0.08255
NM_033337.3(CAV3):c.27C>T (p.Leu9=) rs1974763 0.08242
NM_001378969.1(KCND3):c.264C>T (p.Pro88=) rs17221819 0.08233
NM_005411.5(SFTPA1):c.56T>C (p.Val19Ala) rs1059047 0.08215
NM_178857.6(RP1L1):c.3981A>G (p.Thr1327=) rs112656102 0.08198
NM_002386.4(MC1R):c.178G>T (p.Val60Leu) rs1805005 0.08197
NM_000337.6(SGCD):c.*3687A>G rs72803046 0.08194
NM_001849.4(COL6A2):c.2803G>A (p.Gly935Arg) rs35548026 0.08193
NM_006158.5(NEFL):c.1170-13T>C rs76347846 0.08188
NM_000834.5(GRIN2B):c.2514C>T (p.Cys838=) rs3026160 0.08178
NM_000426.4(LAMA2):c.4523+19C>T rs17057158 0.08168
NM_000435.3(NOTCH3):c.3547G>A (p.Val1183Met) rs10408676 0.08167
NM_025219.3(DNAJC5):c.*1442A>G rs61744085 0.08163
NM_000021.4(PSEN1):c.*313C>A rs362384 0.08161
NM_000368.5(TSC1):c.2829C>T (p.Ala943=) rs4962081 0.08157
NM_001174150.2(ARL13B):c.1043C>G (p.Thr348Ser) rs33944211 0.08150
NM_003194.5(TBP):c.216A>G (p.Gln72=) rs55736770 0.08146
NM_001142800.2(EYS):c.7723+64T>A rs72886371 0.08145
NM_001102654.2(NTF3):c.266G>A (p.Gly89Glu) rs1805149 0.08142
NM_030653.4(DDX11):c.1415-7T>C rs61917225 0.08132
NM_001374828.1(ARID1B):c.3235+38C>T rs9384530 0.08126
NM_001367624.2(ZNF469):c.*46C>A rs78600508 0.08121
NM_032444.4(SLX4):c.*8A>G rs3751839 0.08106
NM_001164508.2(NEB):c.16450G>A (p.Ala5484Thr) rs536508687 0.08083
NM_000527.5(LDLR):c.1171G>A (p.Ala391Thr) rs11669576 0.08075
NM_178857.6(RP1L1):c.3972A>G (p.Glu1324=) rs4840500 0.08074
NM_000110.4(DPYD):c.496A>G (p.Met166Val) rs2297595 0.08071
NM_001127222.2(CACNA1A):c.876A>G (p.Glu292=) rs16006 0.08064
NM_001371596.2(MFSD8):c.1268C>T (p.Ala423Val) rs3733319 0.08054
NM_022132.5(MCCC2):c.738+132C>T rs77085070 0.08052
NM_000091.5(COL4A3):c.1352A>G (p.His451Arg) rs11677877 0.08050
NM_020779.4(WDR35):c.53A>G (p.Gln18Arg) rs1060742 0.08036
NM_001160372.4(TRAPPC9):c.2799= (p.Gly933=) rs2614718 0.08030
NM_006946.4(SPTBN2):c.585C>T (p.Asn195=) rs34775878 0.08024
NM_001267550.2(TTN):c.26681C>T (p.Pro8894Leu) rs13398235 0.08021
NM_000337.6(SGCD):c.*3962G>A rs56182215 0.08020
NM_001201550.3(CFHR4):c.1658G>A (p.Gly553Glu) rs10494745 0.08014
NM_025219.3(DNAJC5):c.*2711G>A rs76291580 0.08011
NM_001365276.2(TNXB):c.1949G>A (p.Arg650His) rs17201602 0.08006
NM_000041.2(APOE):c.526C>T (p.Arg176Cys) rs7412 0.07986
NM_000602.5(SERPINE1):c.43G>A (p.Ala15Thr) rs6092 0.07985
NM_006493.4(CLN5):c.*33A>G rs9573974 0.07977
NM_024306.5(FA2H):c.1039+16T>G rs7193407 0.07963
NM_001267550.2(TTN):c.25921+10C>T rs10183237 0.07956
NM_018100.4(EFHC1):c.1343T>C (p.Met448Thr) rs1266787 0.07947
NM_002474.3(MYH11):c.4365+23C>T rs7193920 0.07945
NM_001103146.3(GIGYF2):c.1554G>A (p.Glu518=) rs2305138 0.07935
NM_000057.4(BLM):c.3961G>A (p.Val1321Ile) rs7167216 0.07933
NM_004985.5(KRAS):c.451-9G>A rs12313763 0.07930
NM_000186.4(CFH):c.3019G>T (p.Val1007Leu) rs534399 0.07904
NM_001184.4(ATR):c.5460T>C (p.Tyr1820=) rs2227932 0.07904
NM_014832.5(TBC1D4):c.3440C>T (p.Thr1147Met) rs9600455 0.07900
NM_004168.4(SDHA):c.1908+15C>T rs34504623 0.07899
NM_139025.4(ADAMTS13):c.-357T>C rs34265876 0.07895
NM_000709.4(BCKDHA):c.116C>A (p.Pro39His) rs11549936 0.07892
NM_000548.5(TSC2):c.2580T>C (p.Phe860=) rs13337626 0.07871
NM_000093.5(COL5A1):c.1569+15C>T rs62574081 0.07860
NM_052845.4(MMAB):c.584+24A>G rs78599682 0.07842
NM_006493.4(CLN5):c.-76A>G rs7987664 0.07840
NM_001267550.2(TTN):c.106275G>C (p.Gly35425=) rs56207956 0.07828
NM_017433.5(MYO3A):c.624C>T (p.Asp208=) rs35010955 0.07818
NM_003560.4(PLA2G6):c.209+16C>T rs2267368 0.07814
NM_198576.4(AGRN):c.5358T>C (p.Gly1786=) rs17160781 0.07808
NM_031885.5(BBS2):c.-42T>G rs78076550 0.07807
NM_000350.3(ABCA4):c.*372A>G rs3747961 0.07805
NM_001374385.1(ATP8B1):c.2855G>A (p.Arg952Gln) rs12968116 0.07804
NM_000466.3(PEX1):c.-53C>G rs12386703 0.07798
NM_000553.6(WRN):c.340G>A (p.Val114Ile) rs2230009 0.07797
NM_002474.3(MYH11):c.5517G>A (p.Ala1839=) rs28505375 0.07791
NM_000295.5(SERPINA1):c.*1331G>A rs11568814 0.07789
NM_033305.3(VPS13A):c.615+20G>C rs17723908 0.07780
NM_001379500.1(COL18A1):c.2117C>G (p.Pro706Arg) rs79980197 0.07777
NM_001378615.1(CC2D2A):c.156C>T (p.Ser52=) rs1861050 0.07770
NM_201384.3(PLEC):c.9073G>A (p.Val3025Ile) rs35027700 0.07759
NM_000129.4(F13A1):c.1704A>G (p.Glu568=) rs5986 0.07753
NM_001530.4(HIF1A):c.1744C>T (p.Pro582Ser) rs11549465 0.07749
NM_000748.3(CHRNB2):c.1338+14G>T rs4845378 0.07732
NM_000222.3(KIT):c.1621A>C (p.Met541Leu) rs3822214 0.07727
NM_001374623.1(PNPLA1):c.863A>G (p.Glu288Gly) rs34598813 0.07716
NM_000218.3(KCNQ1):c.1590+14T>C rs11024034 0.07704
NM_001166114.2(PNPLA6):c.765C>T (p.Asn255=) rs591040 0.07695
NM_000553.6(WRN):c.1577-3C>A rs3087409 0.07689
NM_207352.4(CYP4V2):c.*1638G>A rs72646300 0.07687
NM_198904.4(GABRG2):c.315C>T (p.Asn105=) rs11135176 0.07676
NM_003919.3(SGCE):c.391-3T>C rs17166384 0.07675
NM_080425.4(GNAS):c.1307C>A (p.Ala436Asp) rs61749698 0.07665
NM_000275.3(OCA2):c.913C>T (p.Arg305Trp) rs1800401 0.07659
NM_052989.3(IFT122):c.2060G>A (p.Arg687Gln) rs61740161 0.07657
NM_002168.4(IDH2):c.996C>T (p.Ser332=) rs61737003 0.07655
NM_004933.3(CDH15):c.109G>T (p.Ala37Ser) rs2287359 0.07649
NM_005720.4(ARPC1B):c.111G>C (p.Lys37Asn) rs1045012 0.07645
NM_001159387.2(B4GALNT2):c.954+5G>A rs72835417 0.07640
NM_001378373.1(MBL2):c.170G>A (p.Gly57Glu) rs1800451 0.07628
NM_031885.5(BBS2):c.-40T>C rs115078074 0.07623
NM_201384.3(PLEC):c.8820C>G (p.Asp2940Glu) rs58308209 0.07595
NM_000199.5(SGSH):c.1081G>A (p.Val361Ile) rs9894254 0.07594
NM_001110556.2(FLNA):c.4920G>A (p.Gly1640=) rs61741041 0.07590
NM_001363711.2(DUOX2):c.2148+9C>T rs73406337 0.07581
NM_152384.3(BBS5):c.901-48G>C rs72885849 0.07581
NM_001044385.3(TMEM237):c.1096G>T (p.Ala366Ser) rs73989521 0.07579
NM_000197.2(HSD17B3):c.865G>A (p.Gly289Ser) rs2066479 0.07555
NM_147127.5(EVC2):c.-15G>A rs76269601 0.07552
NM_001363.5(DKC1):c.1461C>T (p.Ala487=) rs1127051 0.07549
NM_004369.4(COL6A3):c.6653C>T (p.Pro2218Leu) rs36117715 0.07538
NM_000137.4(FAH):c.267G>C (p.Leu89=) rs33929922 0.07529
NM_172201.2(KCNE2):c.-79G>A rs41260744 0.07525
NM_001006658.3(CR2):c.3154A>G (p.Ile1052Val) rs17618 0.07518
NM_203447.4(DOCK8):c.1790C>T (p.Ala597Val) rs17673268 0.07509
NM_017672.6(TRPM7):c.4445C>T (p.Thr1482Ile) rs8042919 0.07502
NM_005337.5(NCKAP1L):c.1205C>T (p.Ser402Leu) rs2270581 0.07487
NM_001079802.2(FKTN):c.*5062G>A rs1854125 0.07482
NM_000492.4(CFTR):c.3870A>G (p.Pro1290=) rs1800130 0.07467
NM_022336.4(EDAR):c.357-4G>A rs748225 0.07467
NM_001363711.2(DUOX2):c.2286G>A (p.Gln762=) rs73406334 0.07466
NM_133444.3(ZNF526):c.281T>C (p.Val94Ala) rs3810151 0.07452
NM_015665.6(AAAS):c.414T>C (p.Asp138=) rs11540353 0.07449
NM_000478.6(ALPL):c.330= (p.Ser110=) rs1780316 0.07448
NM_001321142.2(CIDEC):c.600C>T (p.His200=) rs17222536 0.07435
NM_194248.3(OTOF):c.945G>A (p.Lys315=) rs41288779 0.07420
NM_000156.6(GAMT):c.*146A>C rs659455 0.07418
NM_020987.5(ANK3):c.8655C>A (p.His2885Gln) rs11599164 0.07405
NM_005857.5(ZMPSTE24):c.651T>C (p.Asp217=) rs2076697 0.07398
NM_032444.4(SLX4):c.2012T>C (p.Leu671Ser) rs77985244 0.07388
NM_020987.5(ANK3):c.9349A>G (p.Ile3117Val) rs28932171 0.07385
NM_000155.4(GALT):c.940A>G (p.Asn314Asp) rs2070074 0.07384
NM_032444.4(SLX4):c.2013+137G>C rs80186343 0.07384
NM_000156.6(GAMT):c.*151T>C rs659460 0.07383
NM_000363.5(TNNI3):c.-35C>A rs3729707 0.07367
NM_001386140.1(MTTP):c.1151A>C (p.Asp384Ala) rs17029215 0.07361
NM_000363.5(TNNI3):c.150+13G>A rs73617692 0.07353
NM_033305.3(VPS13A):c.6379-7A>T rs759586753 0.07351
NM_000751.3(CHRND):c.1047+9T>C rs3762528 0.07349
NM_016302.4(CRBN):c.735T>C (p.Tyr245=) rs17027638 0.07348
NM_201384.3(PLEC):c.3378G>A (p.Glu1126=) rs11991764 0.07344
NM_182961.4(SYNE1):c.14061G>C (p.Leu4687=) rs3734365 0.07333
NM_203447.4(DOCK8):c.5908G>C (p.Ala1970Pro) rs34908836 0.07318
NM_016362.5(GHRL):c.214C>A (p.Leu72Met) rs696217 0.07295
NM_006392.4(NOP56):c.361A>G (p.Ile121Val) rs2273137 0.07282
NM_003476.5(CSRP3):c.336G>A (p.Ala112=) rs13451 0.07238
NM_153717.3(EVC):c.1328G>A (p.Arg443Gln) rs35953626 0.07232
NM_000393.5(COL5A2):c.*298G>A rs7586 0.07221
NM_000287.4(PEX6):c.2426C>T (p.Ala809Val) rs35830695 0.07211
NM_000260.4(MYO7A):c.*504C>T rs34765389 0.07204
NM_001083961.2(WDR62):c.1643-39G>A rs2301735 0.07203
NM_000528.4(MAN2B1):c.1441G>T (p.Ala481Ser) rs34544747 0.07202
NM_004369.4(COL6A3):c.8962A>G (p.Met2988Val) rs11690358 0.07188
NM_024757.5(EHMT1):c.1368C>T (p.Leu456=) rs45450992 0.07185
NM_001111125.3(IQSEC2):c.4104G>A (p.Leu1368=) rs184087864 0.07175
NM_020987.5(ANK3):c.6066C>T (p.Ala2022=) rs17208576 0.07165
NM_005522.5(HOXA1):c.*56C>A rs56012816 0.07164
NM_001267550.2(TTN):c.42783A>G (p.Lys14261=) rs16866425 0.07162
NM_001145308.5(LRTOMT):c.69G>C (p.Leu23=) rs12272086 0.07159
NM_017757.3(ZNF407):c.206A>G (p.Asn69Ser) rs3794942 0.07157
NC_000010.11:g.27154946C>T rs28365962 0.07150
NM_001768.7(CD8A):c.279G>A (p.Arg93=) rs2229240 0.07149
NM_183050.4(BCKDHB):c.344-24C>T rs73479953 0.07149
NM_183050.4(BCKDHB):c.344-88C>T rs73479950 0.07145
NM_001164508.2(NEB):c.13534G>A (p.Ala4512Thr) rs886038435 0.07143
NM_001267550.2(TTN):c.42958A>G (p.Lys14320Glu) rs6723526 0.07129
NM_018249.6(CDK5RAP2):c.480A>C (p.Leu160=) rs3750494 0.07110
NM_201384.3(PLEC):c.10920C>T (p.Tyr3640=) rs28455570 0.07092
NM_178857.6(RP1L1):c.3980C>T (p.Thr1327Ile) rs143544262 0.07090
NM_005050.4(ABCD4):c.176A>G (p.Gln59Arg) rs58272575 0.07062
NM_201253.3(CRB1):c.*28T>C rs41302107 0.07060
NM_014208.3(DSPP):c.3699A>C (p.Glu1233Asp) rs112275895 0.07050
NM_000093.5(COL5A1):c.*311C>T rs1134114 0.07049
NM_003865.3(HESX1):c.374A>G (p.Asn125Ser) rs9878928 0.07043
NM_001009944.3(PKD1):c.4195T>C (p.Trp1399Arg) rs116092985 0.07036
NM_001384474.1(LOXHD1):c.5399+13G>A rs59128481 0.07033
NM_001377.3(DYNC2H1):c.12457-6C>T rs11225812 0.07031
NM_032444.4(SLX4):c.610C>T (p.Arg204Cys) rs79842542 0.07023
NM_000156.6(GAMT):c.*276C>T rs266810 0.07020
NM_022336.4(EDAR):c.1109T>C (p.Val370Ala) rs3827760 0.07017
NM_032119.4(ADGRV1):c.8730+10_8730+11insC rs377585302 0.07015
NM_182972.3(IRF2BP2):c.761C>T (p.Ala254Val) rs11502 0.07009
NM_000293.3(PHKB):c.2309A>G (p.Tyr770Cys) rs16945474 0.06996
NM_005050.4(ABCD4):c.383C>T (p.Ala128Val) rs61744947 0.06981
NM_001375883.1(GPR161):c.-45+481A>T rs73030230 0.06974
NM_001384474.1(LOXHD1):c.4868A>G (p.Glu1623Gly) rs12606417 0.06969
NM_020365.5(EIF2B3):c.149-4A>G rs72887005 0.06955
NM_000156.6(GAMT):c.626C>T (p.Thr209Met) rs17851582 0.06953
NM_002471.4(MYH6):c.166G>A (p.Gly56Arg) rs28711516 0.06950
NM_207346.3(TSEN54):c.3_8dup (p.2_3EP[4]) rs398124622 0.06950
NM_003060.4(SLC22A5):c.1052+101A>G rs2073645 0.06948
NM_005866.4(SIGMAR1):c.552C>T (p.Phe184=) rs61739588 0.06946
NM_001277115.2(DNAH11):c.2835A>G (p.Gln945=) rs17144747 0.06943
NM_173660.5(DOK7):c.652+50G>A rs2006802 0.06939
NM_033004.4(NLRP1):c.2345C>G (p.Thr782Ser) rs52795654 0.06937
NM_000128.4(F11):c.1717-48A>G rs5966 0.06932
NM_001386393.1(PANK2):c.2T>A rs71647828 0.06931
NM_032119.4(ADGRV1):c.5780C>T (p.Thr1927Met) rs17544552 0.06931
NM_152564.5(VPS13B):c.6963A>G (p.Val2321=) rs61753724 0.06924
NM_020361.5(CPA6):c.518C>G (p.Ser173Cys) rs17853192 0.06919
NM_006397.3(RNASEH2A):c.605T>C (p.Leu202Ser) rs7247284 0.06918
NM_000080.4(CHRNE):c.1033-6C>T rs2075763 0.06916
NC_000016.10:g.88811949G>T rs8191469 0.06915
NM_019109.5(ALG1):c.800G>A (p.Ser267Asn) rs17849848 0.06910
NM_178857.6(RP1L1):c.3982G>A (p.Glu1328Lys) rs141046710 0.06910
NM_004369.4(COL6A3):c.8451A>G (p.Pro2817=) rs61729844 0.06907
NM_006772.3(SYNGAP1):c.1536A>G (p.Glu512=) rs7759963 0.06905
NM_001365276.2(TNXB):c.9562G>A (p.Val3188Ile) rs41258944 0.06902
NM_002609.4(PDGFRB):c.85A>T (p.Ile29Phe) rs17110944 0.06902
NM_004722.4(AP4M1):c.812G>A (p.Arg271His) rs41280968 0.06867
NM_012414.4(RAB3GAP2):c.3495G>A (p.Leu1165=) rs11547779 0.06867
NM_005984.5(SLC25A1):c.279T>C (p.Gly93=) rs2070255 0.06846
NM_000214.3(JAG1):c.744A>G (p.Pro248=) rs10485741 0.06845
NM_012414.4(RAB3GAP2):c.3275G>C (p.Ser1092Thr) rs2289189 0.06844
NM_001171.6(ABCC6):c.793A>G (p.Arg265Gly) rs72657698 0.06836
NM_000140.5(FECH):c.315-48T>C rs2272783 0.06828
NM_000552.5(VWF):c.1626G>A (p.Ala542=) rs35365059 0.06825
NM_004369.4(COL6A3):c.7842C>T (p.Ser2614=) rs34558385 0.06824
NM_007078.3(LDB3):c.690-4842G>A rs113445294 0.06823
NM_001256715.2(DNAAF3):c.1164-14C>T rs60176657 0.06813
NM_004369.4(COL6A3):c.8820G>A (p.Thr2940=) rs11683438 0.06809
NM_006005.3(WFS1):c.2322G>A (p.Lys774=) rs2230721 0.06806
NM_139276.3(STAT3):c.550+190C>A rs62075768 0.06806
NM_014832.5(TBC1D4):c.302C>T (p.Ala101Val) rs77685055 0.06802
NM_001852.4(COL9A2):c.1741G>A (p.Val581Ile) rs3737821 0.06797
NM_020987.5(ANK3):c.9137C>G (p.Thr3046Ser) rs74153183 0.06794
NM_001114753.3(ENG):c.1029C>T (p.Thr343=) rs3739817 0.06792
NM_017433.5(MYO3A):c.660C>T (p.Ala220=) rs34067308 0.06790
NM_022436.3(ABCG5):c.148C>T (p.Arg50Cys) rs6756629 0.06788
NM_001367624.2(ZNF469):c.7508C>A (p.Ala2503Glu) rs141218390 0.06780
NM_003661.4(APOL1):c.1024A>G (p.Ser342Gly) rs73885319 0.06773
NM_053025.4(MYLK):c.2742C>A (p.Asp914Glu) rs3732487 0.06754
NM_024580.6(EFL1):c.2971G>A (p.Ala991Thr) rs78664413 0.06739
CYP2D6*41 rs28371725 0.06736
NM_000091.5(COL4A3):c.280-40T>G rs11386485 0.06734
NM_000335.5(SCN5A):c.5841C>T (p.Ile1947=) rs13324293 0.06728
NM_006059.4(LAMC3):c.1047C>T (p.Gly349=) rs45603838 0.06722
NM_025219.3(DNAJC5):c.*1303C>T rs41278214 0.06711
NM_182758.4(WDR72):c.-7G>A rs496290 0.06705
NM_004369.4(COL6A3):c.7329C>T (p.Ala2443=) rs10084221 0.06701
NM_001379500.1(COL18A1):c.3778G>A (p.Asp1260Asn) rs12483377 0.06693
NM_003283.6(TNNT1):c.35A>G (p.Glu12Gly) rs112562759 0.06673
NM_138554.5(TLR4):c.896A>G (p.Asp299Gly) rs4986790 0.06665
NM_000540.3(RYR1):c.7089C>T (p.Cys2363=) rs2228071 0.06653
NM_020944.3(GBA2):c.33C>T (p.Thr11=) rs34312177 0.06653
NM_001355436.2(SPTB):c.4208G>A (p.Arg1403Gln) rs17180350 0.06645
NM_182961.4(SYNE1):c.3306C>T (p.His1102=) rs17082701 0.06632
NM_015967.8(PTPN22):c.1858= (p.Trp620=) rs2476601 0.06614
NM_000719.7(CACNA1C):c.1114-292C>T rs2238087 0.06609
NM_001368067.1(LDB3):c.504T>C (p.Asp168=) rs76615432 0.06598
NM_000352.6(ABCC8):c.330C>T (p.Ala110=) rs8192695 0.06595
NM_024596.5(MCPH1):c.1936-43T>G rs41311412 0.06588
NM_001256715.2(DNAAF3):c.510A>G (p.Val170=) rs56726774 0.06586
NM_000384.3(APOB):c.10913G>A (p.Arg3638Gln) rs1801701 0.06584
NM_000751.3(CHRND):c.*424C>T rs4973046 0.06579
NM_000018.4(ACADVL):c.478-22_478-21del rs60400822 0.06574
NM_006031.6(PCNT):c.7913+32C>T rs57385578 0.06573
NM_000156.6(GAMT):c.*311C>G rs266811 0.06572
NM_000057.4(BLM):c.2603C>T (p.Pro868Leu) rs2227935 0.06567
NM_022437.3(ABCG8):c.55G>C (p.Asp19His) rs11887534 0.06566
NM_021939.4(FKBP10):c.590A>G (p.Lys197Arg) rs34764749 0.06561
NM_000169.3(GLA):c.-12G>A rs3027585 0.06554
NM_207346.3(TSEN54):c.521+39C>T rs57636645 0.06538
NM_001365536.1(SCN9A):c.3802-4A>G rs75230218 0.06537
NM_001377.3(DYNC2H1):c.21C>T (p.Asp7=) rs17301028 0.06536
NM_000506.5(F2):c.1233G>A (p.Pro411=) rs5898 0.06530
NM_003640.5(ELP1):c.545T>A (p.Met182Lys) rs10521092 0.06528
NM_001130987.2(DYSF):c.1038C>T (p.His346=) rs36122356 0.06522
NM_002386.4(MC1R):c.274G>A (p.Val92Met) rs2228479 0.06520
NM_001366385.1(CARD14):c.1753G>A (p.Val585Ile) rs34367357 0.06519
NM_025219.3(DNAJC5):c.*2725G>A rs11554628 0.06518
NM_001377299.1(NDUFS2):c.1054C>G (p.Pro352Ala) rs11576415 0.06514
NM_002615.6(SERPINF1):c.-86C>A rs9913583 0.06510
NM_001458.5(FLNC):c.3624G>A (p.Ala1208=) rs35281128 0.06502
NM_005419.4(STAT2):c.1390A>G (p.Ile464Val) rs2066811 0.06495
NM_003183.6(ADAM17):c.604A>G (p.Arg202Gly) rs2230818 0.06479
NM_206933.4(USH2A):c.11231+45C>T rs17025373 0.06476
NM_002206.3(ITGA7):c.415-10C>T rs11171661 0.06475
NM_000527.5(LDLR):c.*141G>A rs3826810 0.06460
NM_000337.6(SGCD):c.*7300C>A rs72803048 0.06455
NM_000257.4(MYH7):c.*113G>A rs17794387 0.06449
NM_000169.3(GLA):c.-10C>T rs2071225 0.06441
NM_000552.5(VWF):c.3579T>C (p.Pro1193=) rs16933969 0.06434
NM_001365536.1(SCN9A):c.4812G>T (p.Val1604=) rs149207258 0.06434
NM_033409.4(SLC52A3):c.222C>G (p.Ile74Met) rs35655964 0.06422
NM_021728.4(OTX2):c.*10G>A rs171978 0.06420
NM_017721.5(CC2D1A):c.1015A>C (p.Thr339Pro) rs11883041 0.06417
NM_032119.4(ADGRV1):c.9280G>A (p.Val3094Ile) rs13157270 0.06417
NM_000126.4(ETFA):c.512C>T (p.Thr171Ile) rs1801591 0.06414
NM_016042.4(EXOSC3):c.673T>C (p.Tyr225His) rs3208406 0.06407
NM_001267550.2(TTN):c.71993G>A (p.Arg23998His) rs10164753 0.06404
NM_144508.5(KNL1):c.4339A>G (p.Thr1447Ala) rs16970911 0.06398
NM_032444.4(SLX4):c.1371T>G (p.Asn457Lys) rs74319927 0.06397
NM_014832.5(TBC1D4):c.1611T>G (p.Ser537=) rs9565152 0.06392
NM_032444.4(SLX4):c.1156A>G (p.Met386Val) rs113490934 0.06384
NM_198859.4(PRICKLE2):c.984C>T (p.Asn328=) rs34460293 0.06381
NM_000335.5(SCN5A):c.274-24C>T rs7627488 0.06378
NM_000130.5(F5):c.1380C>T (p.Asn460=) rs6015 0.06377
NC_000005.10:g.156326973A>T rs7725121 0.06375
NM_017777.4(MKS1):c.1671G>C (p.Leu557=) rs11548967 0.06374
NM_032444.4(SLX4):c.2013+23G>A rs112226642 0.06373
NM_032444.4(SLX4):c.2160+50C>T rs75762935 0.06369
NM_020247.5(COQ8A):c.*681G>A rs10482 0.06367
NM_000091.5(COL4A3):c.2021-54T>C rs55643512 0.06366
NM_004369.4(COL6A3):c.9129C>T (p.Arg3043=) rs10201909 0.06364
NM_000246.4(CIITA):c.133C>G (p.Leu45Val) rs2229317 0.06359
NM_000130.5(F5):c.1716G>A (p.Glu572=) rs6036 0.06356
NM_000130.5(F5):c.1238T>C (p.Met413Thr) rs6033 0.06350
NM_017777.4(MKS1):c.191-44G>A rs73329636 0.06342
NM_018294.6(CWF19L1):c.776C>T (p.Pro259Leu) rs7073610 0.06334
NC_000016.10:g.72008736A>G rs34270657 0.06333
NM_005050.4(ABCD4):c.514G>A (p.Val172Ile) rs34992370 0.06330
NM_018129.4(PNPO):c.552G>A (p.Leu184=) rs4378657 0.06317
NM_000130.5(F5):c.1926C>A (p.Thr642=) rs6037 0.06314
NM_032444.4(SLX4):c.1152A>G (p.Pro384=) rs112511042 0.06311
NM_138477.4(CDAN1):c.3450+11C>T rs56046122 0.06311
NM_018100.4(EFHC1):c.1855A>C (p.Ile619Leu) rs17851770 0.06310
NM_001365276.2(TNXB):c.12530G>A (p.Ser4177Asn) rs199953230 0.06308
NM_003803.4(MYOM1):c.192G>T (p.Ala64=) rs9964300 0.06307
NM_014855.3(AP5Z1):c.*276T>C rs12154622 0.06307
NM_006946.4(SPTBN2):c.4899G>A (p.Leu1633=) rs639938 0.06302
NM_000246.4(CIITA):c.2345T>C (p.Val782Ala) rs13336804 0.06290
NM_014000.3(VCL):c.1506G>A (p.Arg502=) rs2228373 0.06285
NM_001909.5(CTSD):c.173C>T (p.Ala58Val) rs17571 0.06284
NM_000031.6(ALAD):c.177G>C (p.Lys59Asn) rs1800435 0.06273
NM_004076.5(CRYBB3):c.471-6C>T rs13055430 0.06273
NM_001458.5(FLNC):c.4700G>A (p.Arg1567Gln) rs2291569 0.06258
NM_003661.4(APOL1):c.1152T>G (p.Ile384Met) rs60910145 0.06255
NM_005045.4(RELN):c.6702T>C (p.Cys2234=) rs2075043 0.06249
NM_024496.4(IRF2BPL):c.342A>G (p.Gln114=) rs28718623 0.06249
NM_000051.4(ATM):c.378T>A (p.Asp126Glu) rs2234997 0.06244
NM_004278.4(PIGL):c.*86A>G rs2302314 0.06241
NM_015268.4(DNAJC13):c.4157-13T>G rs78526588 0.06240
NM_173660.5(DOK7):c.1243C>T (p.Pro415Ser) rs16844464 0.06235
NM_001256715.2(DNAAF3):c.327A>G (p.Arg109=) rs3848618 0.06221
NM_013262.4(MYLIP):c.1173C>T (p.Cys391=) rs1060901 0.06215
NM_004329.3(BMPR1A):c.431-26T>A rs7920259 0.06214
NM_182894.3(VSX2):c.*1074C>T rs34263984 0.06214
NM_201384.3(PLEC):c.2658G>A (p.Leu886=) rs78012434 0.06211
NM_001369268.1(ACAN):c.1221C>T (p.Val407=) rs16942341 0.06206
NM_001128164.2(ATXN1):c.627T>G (p.His209Gln) rs11969612 0.06192
NM_000091.5(COL4A3):c.687+103T>A rs55997063 0.06185
NM_000381.4(MID1):c.1230C>T (p.Ser410=) rs16986145 0.06185
NM_012082.4(ZFPM2):c.3164C>T (p.Ala1055Val) rs16873741 0.06184
NM_206933.4(USH2A):c.2137G>C (p.Gly713Arg) rs696723 0.06184
NM_138959.3(VANGL1):c.*6321T>G rs77318780 0.06169
NM_001291867.2(NHS):c.1714C>T (p.Pro572Ser) rs150688899 0.06159
NM_003018.3(SFTPC):c.-134G>C rs28438700 0.06153
NM_018943.3(TUBA8):c.897C>T (p.Asn299=) rs362203 0.06153
NM_001182.5(ALDH7A1):c.273T>C (p.Thr91=) rs60720055 0.06152
NM_000246.4(CIITA):c.2342C>T (p.Ser781Leu) rs13330686 0.06150
NC_000009.12:g.129824137A>C rs114150156 0.06145
NM_007214.5(SEC63):c.1936-8G>T rs115710123 0.06144
NM_001379180.1(ESRRB):c.1219C>T (p.Pro407Ser) rs61742642 0.06142
NM_001379081.2(FREM1):c.3819T>A (p.Asp1273Glu) rs7025814 0.06135
NM_000257.4(MYH7):c.1062C>T (p.Gly354=) rs735712 0.06133
NM_024596.5(MCPH1):c.2214+13853A>G rs17063434 0.06133
NM_001909.5(CTSD):c.231C>T (p.Ala77=) rs2230067 0.06127
NM_000553.6(WRN):c.1161G>A (p.Met387Ile) rs1800391 0.06125
NM_001370466.1(NOD2):c.2782G>A (p.Val928Ile) rs5743291 0.06122
NM_001277115.2(DNAH11):c.13502A>G (p.Lys4501Arg) rs77448980 0.06118
NM_001080495.3(TNRC18):c.7887A>C (p.Ser2629=) rs891390068 0.06117
NM_025219.3(DNAJC5):c.*2208C>T rs11554631 0.06117
NM_004315.6(ASAH1):c.126+380C>T rs35425490 0.06116
NM_017433.5(MYO3A):c.2497G>T (p.Ala833Ser) rs33947968 0.06112
NM_001035.3(RYR2):c.5656G>A (p.Gly1886Ser) rs3766871 0.06110
NM_001256715.2(DNAAF3):c.1001T>C (p.Leu334Pro) rs890871 0.06104
NM_033453.4(ITPA):c.94C>A (p.Pro32Thr) rs1127354 0.06104
NM_201384.3(PLEC):c.4644G>A (p.Ala1548=) rs62642470 0.06097
NM_025219.3(DNAJC5):c.*2601C>T rs112103063 0.06085
NM_000091.5(COL4A3):c.3807C>A (p.Asp1269Glu) rs57611801 0.06070
NM_000821.7(GGCX):c.2084+45G>C rs11676382 0.06070
NM_000552.5(VWF):c.6554G>A (p.Arg2185Gln) rs2229446 0.06069
NM_003244.4(TGIF1):c.487C>T (p.Pro163Ser) rs4468717 0.06068
NM_201384.3(PLEC):c.7878G>A (p.Leu2626=) rs34803322 0.06068
NM_001040142.2(SCN2A):c.56G>A (p.Arg19Lys) rs17183814 0.06063
NM_207346.3(TSEN54):c.624-37A>C rs73998306 0.06063
NM_001367624.2(ZNF469):c.8330A>T (p.Asp2777Val) rs3812954 0.06060
NM_181332.3(NLGN4X):c.1251G>C (p.Arg417=) rs61741754 0.06033
NM_198578.4(LRRK2):c.4269G>A (p.Lys1423=) rs11175964 0.06033
NM_006610.4(MASP2):c.1130T>C (p.Val377Ala) rs2273346 0.06032
NM_001355436.2(SPTB):c.408C>T (p.His136=) rs11623956 0.06031
NM_001195248.2(APTX):c.484-12_484-11insG rs377129152 0.06028
NM_001355436.2(SPTB):c.4222G>C (p.Gly1408Arg) rs17245552 0.06024
NM_002693.3(POLG):c.3708G>T (p.Gln1236His) rs3087374 0.06023
NM_001166686.2(PFKM):c.206-3523C>A rs41291959 0.06022
NM_001367624.2(ZNF469):c.3516T>C (p.Arg1172=) rs111557381 0.06017
NM_001355436.2(SPTB):c.4003-12T>C rs78707026 0.06001
NM_001008212.2(OPTN):c.293T>A (p.Met98Lys) rs11258194 0.05969
NM_002470.4(MYH3):c.2106C>T (p.Gly702=) rs56259391 0.05968
NM_002470.4(MYH3):c.2610A>G (p.Lys870=) rs56163389 0.05967
NM_001276345.2(TNNT2):c.788A>G (p.Lys263Arg) rs3730238 0.05965
NM_139027.6(ADAMTS13):c.3909+32T>C rs3094374 0.05960
NM_001034853.2(RPGR):c.1291A>G (p.Ile431Val) rs62635003 0.05955
NM_006031.6(PCNT):c.6150+49C>T rs112334245 0.05936
NM_000186.4(CFH):c.2669G>T (p.Ser890Ile) rs515299 0.05928
NM_018943.3(TUBA8):c.1057-7C>T rs2234338 0.05923
NM_001368894.2(PAX6):c.808-12C>T rs667773 0.05916
NM_139027.6(ADAMTS13):c.1852C>G (p.Pro618Ala) rs28647808 0.05902
NM_182961.4(SYNE1):c.2653T>G (p.Leu885Val) rs17082709 0.05898
NM_033004.4(NLRP1):c.3355A>G (p.Met1119Val) rs35596958 0.05897
NM_001365276.2(TNXB):c.904A>G (p.Thr302Ala) rs1150752 0.05885
NM_014855.3(AP5Z1):c.*205G>A rs73305394 0.05882
NM_001384474.1(LOXHD1):c.1087G>A (p.Val363Ile) rs10163657 0.05881
NM_000744.7(CHRNA4):c.51G>A (p.Leu17=) rs79739740 0.05876
NM_001355436.2(SPTB):c.4818C>T (p.Tyr1606=) rs4899145 0.05876
NM_001355436.2(SPTB):c.4564-4G>A rs4902312 0.05860
NM_001267550.2(TTN):c.22080T>C (p.Asp7360=) rs16866473 0.05854
NM_001814.6(CTSC):c.1357A>G (p.Ile453Val) rs3888798 0.05853
NM_022356.4(P3H1):c.*77C>T rs13871 0.05848
NM_032119.4(ADGRV1):c.18311-22A>G rs3749605 0.05845
NM_001039141.3(TRIOBP):c.1866T>C (p.Asp622=) rs6000868 0.05844
NM_000489.6(ATRX):c.4659T>C (p.His1553=) rs25641 0.05840
NM_003742.4(ABCB11):c.2029A>G (p.Met677Val) rs11568364 0.05838
NM_000135.4(FANCA):c.1235C>T (p.Ala412Val) rs11646374 0.05837
NM_006899.5(IDH3B):c.*235A>G rs8296 0.05835
NM_002206.3(ITGA7):c.810G>A (p.Gly270=) rs3847675 0.05834
NM_001199107.2(TBC1D24):c.207T>C (p.Pro69=) rs13339237 0.05833
NM_001355436.2(SPTB):c.4752C>T (p.Asn1584=) rs4902311 0.05828
NM_004056.6(CA8):c.334C>T (p.Leu112=) rs61743130 0.05823
NM_000726.5(CACNB4):c.1239G>A (p.Leu413=) rs1805028 0.05818
NM_007137.5(ZNF81):c.1911G>A (p.Pro637=) rs663514 0.05818
NM_201384.3(PLEC):c.7726C>T (p.Leu2576=) rs11988293 0.05812
NC_000010.11:g.27155228G>C rs41282216 0.05801
NM_032444.4(SLX4):c.4637-227C>T rs75693937 0.05798
NM_201384.3(PLEC):c.5865G>A (p.Ala1955=) rs62642469 0.05798
NM_024598.4(USB1):c.748C>G (p.Gln250Glu) rs16959641 0.05789
NM_000485.3(APRT):c.*3A>G rs2070256 0.05786
NM_001355436.2(SPTB):c.4779A>G (p.Ala1593=) rs4902310 0.05782
NM_000552.5(VWF):c.3426T>C (p.Cys1142=) rs535693463 0.05771
NM_001009944.3(PKD1):c.12176C>T (p.Ala4059Val) rs3209986 0.05767
NM_203447.4(DOCK8):c.3230G>A (p.Ser1077Asn) rs34627722 0.05757
NM_000130.5(F5):c.730+7C>T rs6023 0.05754
NM_000152.5(GAA):c.2446G>A (p.Val816Ile) rs1800314 0.05752
NM_004369.4(COL6A3):c.3262A>C (p.Lys1088Gln) rs11896521 0.05751
NM_018075.5(ANO10):c.1066A>G (p.Ser356Gly) rs56389778 0.05750
NM_000516.7(GNAS):c.1113C>T (p.Asn371=) rs8386 0.05749
NM_139027.6(ADAMTS13):c.686+4T>G rs36219245 0.05749
NM_001355436.2(SPTB):c.5535C>T (p.Leu1845=) rs17180252 0.05745
NM_016373.4(WWOX):c.517-108230A>G rs77067228 0.05744
NM_006393.3(NEBL):c.1051A>G (p.Met351Val) rs4025981 0.05741
NM_032119.4(ADGRV1):c.4506C>T (p.Pro1502=) rs17543819 0.05741
NM_001267550.2(TTN):c.7174G>A (p.Gly2392Ser) rs4894048 0.05739
NM_182961.4(SYNE1):c.19104+17A>G rs17082389 0.05731
NM_001267550.2(TTN):c.107267T>C (p.Val35756Ala) rs16866378 0.05725
NM_022367.4(SEMA4A):c.*37T>C rs41265023 0.05725
NM_001927.4(DES):c.578+11G>A rs111548596 0.05724
NM_015202.5(KATNIP):c.2759C>T (p.Pro920Leu) rs61734902 0.05724
NM_139027.6(ADAMTS13):c.582C>T (p.Gly194=) rs34054981 0.05724
NM_024809.5(TCTN2):c.225C>T (p.Asn75=) rs73416301 0.05714
NM_005006.7(NDUFS1):c.414T>C (p.Asp138=) rs11548670 0.05713
NM_024809.5(TCTN2):c.83-4C>T rs73416299 0.05712
NM_001142864.4(PIEZO1):c.2991+12A>G rs112680298 0.05710
NM_001174089.2(SLC4A11):c.2451G>A (p.Thr817=) rs58757394 0.05710
NM_000552.5(VWF):c.3486A>G (p.Pro1162=) rs546732699 0.05708
NM_024809.5(TCTN2):c.*87C>T rs113292231 0.05704
NM_000304.4(PMP22):c.*228G>A rs1804193 0.05698
NM_000552.5(VWF):c.2220G>A (p.Met740Ile) rs2228317 0.05696
NM_001009944.3(PKD1):c.12409C>T (p.Leu4137=) rs79899502 0.05695
NM_001876.4(CPT1A):c.823G>A (p.Ala275Thr) rs2229738 0.05682
NM_000760.4(CSF3R):c.1528G>C (p.Asp510His) rs3917991 0.05672
NM_000552.5(VWF):c.3485C>T (p.Pro1162Leu) rs566672558 0.05671
NM_000754.4(COMT):c.219G>A (p.Gln73=) rs740602 0.05666
NM_006031.6(PCNT):c.8707G>A (p.Ala2903Thr) rs35147998 0.05666
NM_002547.3(OPHN1):c.115G>A (p.Val39Ile) rs41303733 0.05665
NM_015192.4(PLCB1):c.2082G>A (p.Gly694=) rs3761170 0.05661
NM_001282933.2(ZNF341):c.2437A>C (p.Thr813Pro) rs17090763 0.05656
NM_004519.4(KCNQ3):c.1071C>G (p.Leu357=) rs17575754 0.05655
NM_032119.4(ADGRV1):c.8291C>T (p.Ser2764Leu) rs16869016 0.05655
NM_006393.3(NEBL):c.1962T>A (p.Asn654Lys) rs4748728 0.05648
NM_004525.3(LRP2):c.428-8T>A rs761869255 0.05647
NM_001267550.2(TTN):c.19301G>A (p.Ser6434Asn) rs11888217 0.05644
NM_001365276.2(TNXB):c.11547A>G (p.Thr3849=) rs4711283 0.05640
NM_033004.4(NLRP1):c.2984C>T (p.Thr995Ile) rs34733791 0.05640
NM_139027.6(ADAMTS13):c.354G>A (p.Pro118=) rs28571612 0.05636
NM_001366110.1(PAX4):c.543A>G (p.Gln181=) rs327517 0.05634
NM_000165.5(GJA1):c.*3dup rs397824185 0.05632
NM_003383.5(VLDLR):c.175G>A (p.Val59Ile) rs6149 0.05632
NM_002458.3(MUC5B):c.15861A>G (p.Pro5287=) rs56344012 0.05630
NM_001025389.2(AMPD3):c.553C>T (p.Arg185Trp) rs11042836 0.05626
NM_016180.5(SLC45A2):c.814G>A (p.Glu272Lys) rs26722 0.05621
NM_001256715.2(DNAAF3):c.529G>A (p.Gly177Ser) rs58824375 0.05620
NC_000017.11:g.75979390C>T rs3760132 0.05616
NC_000009.12:g.35080028T>A rs17885140 0.05615
NM_001849.4(COL6A2):c.1970-23G>C rs78764604 0.05599
NM_002693.3(POLG):c.2266-76T>C rs3176203 0.05599
NM_052945.4(TNFRSF13C):c.62C>G (p.Pro21Arg) rs77874543 0.05593
NM_000726.5(CACNB4):c.762T>A (p.Ile254=) rs61736804 0.05586
NM_001010874.5(TECRL):c.133C>T (p.Pro45Ser) rs61744866 0.05584
NM_000186.4(CFH):c.3138C>T (p.Thr1046=) rs61822181 0.05563
NM_002334.4(LRP4):c.941T>C (p.Leu314Ser) rs7926667 0.05542
NM_004268.5(MED17):c.342T>C (p.Asp114=) rs16919376 0.05535
NM_002334.4(LRP4):c.1695G>A (p.Glu565=) rs61741501 0.05533
NM_024809.5(TCTN2):c.873A>G (p.Ala291=) rs73418153 0.05532
NM_000392.5(ABCC2):c.3563T>A (p.Val1188Glu) rs17222723 0.05531
NM_017950.3(CCDC40):c.-36C>T rs73437681 0.05525
NM_001849.4(COL6A2):c.*61G>A rs1043801 0.05523
NM_013382.7(POMT2):c.162G>T (p.Ala54=) rs2270420 0.05519
NM_000552.5(VWF):c.7771-13C>T rs11063962 0.05514
NM_001379110.1(SLC9A6):c.1306+8G>A rs6654310 0.05510
NM_000130.5(F5):c.2450A>C (p.Asn817Thr) rs6018 0.05508
NM_006393.3(NEBL):c.1132G>C (p.Asp378His) rs41277370 0.05503
NM_000335.5(SCN5A):c.4845C>T (p.Phe1615=) rs41315495 0.05498
NM_000379.4(XDH):c.2107A>G (p.Ile703Val) rs17011368 0.05498
NM_003172.4(SURF1):c.573C>G (p.Thr191=) rs28715079 0.05492
NM_014855.3(AP5Z1):c.1124T>A (p.Leu375Gln) rs11772411 0.05491
NM_201384.3(PLEC):c.8319C>T (p.Ala2773=) rs34534853 0.05489
NM_001943.5(DSG2):c.2137G>A (p.Glu713Lys) rs79241126 0.05477
NM_019892.6(INPP5E):c.1359C>T (p.Pro453=) rs35774078 0.05472
NM_001164508.2(NEB):c.5971C>T (p.His1991Tyr) rs75807392 0.05468
NM_001018113.3(FANCB):c.1004G>A (p.Gly335Glu) rs41309679 0.05461
NM_018100.4(EFHC1):c.545G>A (p.Arg182His) rs3804505 0.05453
NM_005138.3(SCO2):c.582C>T (p.Ser194=) rs131811 0.05449
NM_000066.4(C8B):c.322G>A (p.Glu108Lys) rs12067507 0.05442
NM_001303.4(COX10):c.33C>T (p.Arg11=) rs8076787 0.05441
NM_006772.3(SYNGAP1):c.2970C>T (p.Ser990=) rs61421477 0.05441
NM_001111125.3(IQSEC2):c.3555A>C (p.Pro1185=) rs1315062158 0.05436
NM_000066.4(C8B):c.782C>T (p.Pro261Leu) rs12085435 0.05435
NM_007137.5(ZNF81):c.638C>A (p.Ala213Glu) rs537825 0.05429
NM_138694.4(PKHD1):c.8108-64G>A rs12523926 0.05426
NM_144670.6(A2ML1):c.3569C>T (p.Ala1190Val) rs73040625 0.05426
NM_001267550.2(TTN):c.8919C>G (p.Ser2973=) rs4894045 0.05415
NM_001267550.2(TTN):c.9461A>G (p.Lys3154Arg) rs4893853 0.05414
NM_006446.5(SLCO1B1):c.1929A>C (p.Leu643Phe) rs34671512 0.05414
NM_213622.4(STAMBP):c.12T>C (p.His4=) rs919629 0.05408
NM_201384.3(PLEC):c.265-16C>G rs11993492 0.05399
NM_004589.4(SCO1):c.172C>T (p.Pro58Ser) rs1802083 0.05390
NM_000130.5(F5):c.2289A>G (p.Glu763=) rs6024 0.05387
NM_001384732.1(CPLANE1):c.570+32G>A rs10072236 0.05375
NM_007078.3(LDB3):c.1231+30C>G rs11597201 0.05370
NM_005236.3(ERCC4):c.1244G>A (p.Arg415Gln) rs1800067 0.05364
NM_003664.5(AP3B1):c.1969-10G>A rs77009095 0.05363
NM_001365276.2(TNXB):c.607G>A (p.Val203Met) rs41270461 0.05358
NM_000404.4(GLB1):c.734-80G>A rs75639377 0.05351
NM_015268.4(DNAJC13):c.5018A>G (p.Tyr1673Cys) rs79953286 0.05351
NM_001042631.3(SDHAF1):c.333C>G (p.Arg111=) rs76336581 0.05347
NM_001257180.2(SLC20A2):c.910G>A (p.Gly304Ser) rs73675069 0.05347
NM_001277115.2(DNAH11):c.4904A>G (p.Asp1635Gly) rs17144835 0.05345
NM_004370.6(COL12A1):c.7786A>G (p.Ile2596Val) rs35710072 0.05341
NM_052845.4(MMAB):c.135-23T>C rs66580225 0.05340
NM_000231.3(SGCG):c.*13C>T rs9510701 0.05337
NM_014862.4(ARNT2):c.1815C>G (p.Thr605=) rs79914316 0.05333
NM_033004.4(NLRP1):c.4096C>T (p.Arg1366Cys) rs2137722 0.05327
NM_020366.4(RPGRIP1):c.3340-15C>T rs28664100 0.05325
NM_001267550.2(TTN):c.30683-18C>T rs587780977 0.05317
NM_178857.6(RP1L1):c.3979A>G (p.Thr1327Ala) rs139405108 0.05310
NM_000431.4(MVK):c.405G>A (p.Ser135=) rs34368092 0.05306
NM_002168.4(IDH2):c.1050C>T (p.Thr350=) rs11540478 0.05301
NM_001267550.2(TTN):c.15792T>C (p.Ile5264=) rs12993099 0.05297
NM_000130.5(F5):c.6665A>G (p.Asp2222Gly) rs6027 0.05290
NM_001848.3(COL6A1):c.347G>A (p.Ser116Asn) rs11553519 0.05277
NM_182961.4(SYNE1):c.23019+48G>A rs116292261 0.05274
NM_004268.5(MED17):c.516C>T (p.Thr172=) rs7119915 0.05273
NM_181523.3(PIK3R1):c.1176C>T (p.Phe392=) rs3730090 0.05273
NM_201384.3(PLEC):c.9101C>T (p.Ala3034Val) rs35858667 0.05256
NM_003036.4(SKI):c.185C>G (p.Ala62Gly) rs28384811 0.05253
NM_003244.4(TGIF1):c.657T>G (p.Thr219=) rs2229336 0.05251
NM_001379610.1(SPINK1):c.*32C>T rs11319 0.05250
NM_006031.6(PCNT):c.711T>G (p.His237Gln) rs34500739 0.05250
NM_001277115.2(DNAH11):c.11325G>A (p.Ala3775=) rs12666072 0.05248
NM_017739.4(POMGNT1):c.1785+31C>A rs78405727 0.05247
NM_025114.4(CEP290):c.2512A>G (p.Lys838Glu) rs11104738 0.05247
NM_002334.4(LRP4):c.813G>A (p.Thr271=) rs879721 0.05245
NM_020549.5(CHAT):c.1383-42G>C rs61710556 0.05243
NM_201384.3(PLEC):c.8025C>T (p.Gly2675=) rs35139934 0.05241
NM_001377265.1(MAPT):c.1178C>T (p.Ser393Leu) rs73314997 0.05239
NM_001041.4(SI):c.5405C>G (p.Thr1802Ser) rs9917722 0.05238
NM_003265.3(TLR3):c.2553C>T (p.Phe851=) rs73873710 0.05231
NM_005677.4(COLQ):c.934A>G (p.Ser312Gly) rs6782980 0.05224
NM_001009944.3(PKD1):c.8898G>C (p.Glu2966Asp) rs13337123 0.05219
NM_000453.3(SLC5A5):c.1326A>C (p.Thr442=) rs73520743 0.05215
NM_001256317.3(TMPRSS3):c.-34G>A rs73372256 0.05210
NM_002299.4(LCT):c.1650C>G (p.Gly550=) rs35093754 0.05209
NM_201525.4(ADGRG1):c.1286+6G>A rs74326170 0.05188
NM_025114.4(CEP290):c.6357+20A>T rs7971699 0.05185
NM_000482.4(APOA4):c.1140G>T (p.Gln380His) rs5110 0.05181
NM_001267550.2(TTN):c.8492G>A (p.Ser2831Asn) rs2306636 0.05176
NM_032545.4(CFC1):c.140G>A (p.Arg47Gln) rs201431919 0.05173
NM_173354.5(SIK1):c.2174C>T (p.Ala725Val) rs35596465 0.05170
NM_000130.5(F5):c.3980A>G (p.His1327Arg) rs1800595 0.05166
NM_025114.4(CEP290):c.442-19T>A rs113132803 0.05166
NM_001032221.6(STXBP1):c.846C>T (p.Asp282=) rs58889246 0.05156
NM_001110556.2(FLNA):c.6642G>C (p.Val2214=) rs1064822 0.05152
NM_198576.4(AGRN):c.3516+10G>C rs76264143 0.05151
NM_000325.6(PITX2):c.*454C>T rs6533526 0.05143
NM_000565.4(IL6R):c.1153G>A (p.Val385Ile) rs2228146 0.05134
NM_004519.4(KCNQ3):c.732T>C (p.Gly244=) rs41272387 0.05125
NM_004519.4(KCNQ3):c.660T>C (p.Asn220=) rs41272389 0.05124
NM_000487.6(ARSA):c.*96A>G rs6151429 0.05120
NM_002617.4(PEX10):c.279C>T (p.Gly93=) rs1143016 0.05120
NM_014714.4(IFT140):c.3209C>T (p.Ala1070Val) rs2235638 0.05119
NM_004646.4(NPHS1):c.3595-9G>T rs77309273 0.05118
NM_003466.4(PAX8):c.*187A>G rs78802229 0.05117
NM_058246.4(DNAJB6):c.176-20A>G rs28377945 0.05106
NM_003690.5(PRKRA):c.173A>G (p.Asp58Gly) rs61999302 0.05105
NM_000063.6(C2):c.1902+6G>C rs9332730 0.05089
NM_207352.4(CYP4V2):c.327+11G>C rs62350517 0.05079
NM_182961.4(SYNE1):c.8163C>T (p.Ser2721=) rs58905396 0.05078
NM_001082971.2(DDC):c.1385G>A (p.Arg462Gln) rs11575542 0.05076
NM_004035.7(ACOX1):c.269+4780G>A rs3744032 0.05071
NM_006031.6(PCNT):c.5858G>A (p.Arg1953His) rs34268261 0.05068
NM_001368397.1(FRMPD4):c.1470+9C>T rs7877197 0.05067
NM_001184.4(ATR):c.3172-26T>A rs76852171 0.05061
NM_000352.6(ABCC8):c.4714G>A (p.Val1572Ile) rs8192690 0.05059
NM_144687.4(NLRP12):c.1206C>G (p.Phe402Leu) rs34971363 0.05059
NM_016203.4(PRKAG2):c.-90G>T rs76351165 0.05040
NM_000070.3(CAPN3):c.606T>C (p.Ser202=) rs17593 0.05037
NM_138694.4(PKHD1):c.527+51G>T rs62406055 0.05032
NM_000283.4(PDE6B):c.915G>A (p.Thr305=) rs75695239 0.05029
NM_006946.4(SPTBN2):c.5340C>T (p.Asn1780=) rs623022 0.05027
NM_015046.7(SETX):c.3455T>G (p.Phe1152Cys) rs3739922 0.05027
NM_198129.4(LAMA3):c.3622C>A (p.Pro1208Thr) rs17202961 0.05021
NM_005334.3(HCFC1):c.2886G>A (p.Leu962=) rs3027883 0.05020
NM_002016.2(FLG):c.2857G>C (p.Glu953Gln) rs201137357 0.05019
NM_002206.3(ITGA7):c.3018C>G (p.Ser1006=) rs17117883 0.05018
NM_025114.4(CEP290):c.3710G>A (p.Arg1237His) rs7307793 0.05017
NM_032444.4(SLX4):c.*113C>T rs76661336 0.05017
NM_001122764.3(PPOX):c.-128C>G rs72714915 0.05005
NM_024675.4(PALB2):c.-47G>A rs8053188 0.05004
NM_025114.4(CEP290):c.5709+18C>A rs7973969 0.05003
NM_206933.4(USH2A):c.1931A>T (p.Asp644Val) rs1805048 0.05002
NM_001083961.2(WDR62):c.1768+28G>A rs77938609 0.05000
NM_004371.4(COPA):c.436A>G (p.Thr146Ala) rs57425682 0.04998
NM_206937.2(LIG4):c.8C>T (p.Ala3Val) rs1805389 0.04996
NM_002633.3(PGM1):c.1501G>A (p.Val501Ile) rs6676290 0.04986
NM_197947.3(CLEC7A):c.714T>G (p.Tyr238Ter) rs16910526 0.04986
NM_014855.3(AP5Z1):c.1131C>T (p.His377=) rs11768079 0.04978
NM_000342.4(SLC4A1):c.166A>G (p.Lys56Glu) rs5036 0.04977
NM_006005.3(WFS1):c.1367G>A (p.Arg456His) rs1801208 0.04977
NM_003172.4(SURF1):c.280T>C (p.Leu94=) rs28615629 0.04975
NM_001853.4(COL9A3):c.280C>T (p.Pro94Ser) rs35908728 0.04973
NM_000135.4(FANCA):c.542C>T (p.Ala181Val) rs17232246 0.04972
NM_001363711.2(DUOX2):c.2102G>A (p.Arg701Gln) rs113400262 0.04972
NM_015272.5(RPGRIP1L):c.685G>A (p.Ala229Thr) rs61747071 0.04969
NM_001378373.1(MBL2):c.154C>T (p.Arg52Cys) rs5030737 0.04964
NM_016592.5(GNAS):c.294C>T (p.Pro98=) rs1800902 0.04961
NM_015506.3(MMACHC):c.811A>G (p.Ser271Gly) rs35219601 0.04960
NM_032444.4(SLX4):c.555C>T (p.Asp185=) rs74640850 0.04956
NM_001844.5(COL2A1):c.1836T>C (p.Gly612=) rs41317939 0.04953
NM_005529.7(HSPG2):c.10248C>T (p.Ser3416=) rs41310390 0.04950
NM_018129.4(PNPO):c.347G>A (p.Arg116Gln) rs17679445 0.04944
NM_000558.5(HBA1):c.-24C>G rs374054030 0.04936
NM_000016.6(ACADM):c.351A>C (p.Thr117=) rs74090726 0.04935
NM_001384732.1(CPLANE1):c.6427A>G (p.Ile2143Val) rs6884652 0.04935
NM_015272.5(RPGRIP1L):c.530-29G>A rs74393433 0.04932
NM_032444.4(SLX4):c.3662C>T (p.Ala1221Val) rs3827530 0.04930
NM_000280.4(PAX6):c.*2901T>C rs542906080 0.04927
NM_000404.4(GLB1):c.1594A>G (p.Ser532Gly) rs73826339 0.04924
NM_182961.4(SYNE1):c.10145+12T>C rs112401775 0.04924
NM_000275.3(OCA2):c.1256G>A (p.Arg419Gln) rs1800407 0.04917
NM_001317778.2(SFTPC):c.201+14G>A rs8192327 0.04917
NM_032444.4(SLX4):c.678C>T (p.His226=) rs28516461 0.04916
NM_020639.3(RIPK4):c.*275T>C rs73369674 0.04912
NM_000218.3(KCNQ1):c.478-10G>A rs28730752 0.04910
NM_000130.5(F5):c.5022A>G (p.Gly1674=) rs6010 0.04908
NM_024757.5(EHMT1):c.1869C>T (p.Asn623=) rs7868455 0.04901
CYP2C9*3 rs1057910 0.04900
NM_000552.5(VWF):c.3258C>T (p.Tyr1086=) rs112634786 0.04897
NM_001848.3(COL6A1):c.1002+37A>G rs11702174 0.04893
NM_172250.3(MMAA):c.1089G>C (p.Gln363His) rs2270655 0.04892
NM_018294.6(CWF19L1):c.720G>A (p.Ala240=) rs17112787 0.04888
NM_006031.6(PCNT):c.1937-44G>A rs17297961 0.04884
NM_000350.3(ABCA4):c.635G>A (p.Arg212His) rs6657239 0.04881
NM_001018005.2(TPM1):c.486T>C (p.Tyr162=) rs11558747 0.04876
NM_001369268.1(ACAN):c.306C>A (p.Asp102Glu) rs16942318 0.04874
NM_000016.6(ACADM):c.-401G>A rs114005461 0.04873
NM_001232.4(CASQ2):c.1194T>C (p.Asp398=) rs28730711 0.04871
NM_014049.5(ACAD9):c.-44_-41dup rs387906242 0.04863
NM_002691.4(POLD1):c.1495-44A>G rs3219396 0.04859
NM_000552.5(VWF):c.3414C>T (p.Asn1138=) rs560397436 0.04853
NM_201384.3(PLEC):c.2613-7C>A rs11990994 0.04852
NM_182758.4(WDR72):c.3254-7T>G rs17630660 0.04844
NM_000037.4(ANK1):c.1856G>A (p.Arg619His) rs2304877 0.04842
NM_004960.4(FUS):c.524-21T>C rs74015090 0.04836
NM_002386.4(MC1R):c.451C>T (p.Arg151Cys) rs1805007 0.04832
NM_000548.5(TSC2):c.1578C>T (p.Ser526=) rs34012042 0.04830
NM_000260.4(MYO7A):c.5156A>G (p.Tyr1719Cys) rs77625410 0.04825
NM_018075.5(ANO10):c.1682C>T (p.Thr561Met) rs17409162 0.04825
NM_003690.5(PRKRA):c.549T>C (p.Asn183=) rs61746229 0.04819
NM_138501.6(TECR):c.618C>T (p.Leu206=) rs59273619 0.04819
NM_147196.3(TMIE):c.*51C>T rs56002857 0.04812
NM_001109809.5(ZFP57):c.1103A>T (p.Asp368Val) rs2535241 0.04806
NM_004525.3(LRP2):c.6759T>C (p.Asp2253=) rs35114151 0.04805
NM_001267550.2(TTN):c.7830G>C (p.Met2610Ile) rs56142888 0.04798
NM_006031.6(PCNT):c.8258G>A (p.Arg2753His) rs743346 0.04797
NM_182914.3(SYNE2):c.16722A>G (p.Gln5574=) rs17101704 0.04797
NM_000214.3(JAG1):c.2612C>G (p.Pro871Arg) rs35761929 0.04795
NM_001143992.2(WRAP53):c.1308T>C (p.Ala436=) rs34016213 0.04793
NC_000017.11:g.10697578C>A rs2520169 0.04792
NM_001267550.2(TTN):c.4715G>A (p.Arg1572Gln) rs12476289 0.04792
NM_022455.5(NSD1):c.5623-22G>A rs79098301 0.04787
NM_003070.5(SMARCA2):c.174G>A (p.Pro58=) rs10964470 0.04780
NC_000007.14:g.151877180G>A rs117728810 0.04777
NM_015202.5(KATNIP):c.4103G>A (p.Arg1368Gln) rs11644502 0.04774
NM_002241.5(KCNJ10):c.811C>T (p.Arg271Cys) rs1130183 0.04770
NM_020066.5(FMN2):c.2897T>C (p.Leu966Pro) rs200975594 0.04768
NM_206933.4(USH2A):c.8656C>T (p.Leu2886Phe) rs41277200 0.04760
NM_033004.4(NLRP1):c.737C>G (p.Thr246Ser) rs11651595 0.04743
NM_012414.4(RAB3GAP2):c.2587A>G (p.Thr863Ala) rs12045447 0.04740
NM_001374353.1(GLI2):c.2889C>T (p.Ser963=) rs146811565 0.04735
NM_001009944.3(PKD1):c.8644T>A (p.Trp2882Arg) rs13333553 0.04733
NM_133642.5(LARGE1):c.2100C>T (p.Asn700=) rs17722172 0.04733
NM_018082.6(POLR3B):c.2218A>G (p.Thr740Ala) rs17038460 0.04732
NM_015346.4(ZFYVE26):c.3308C>T (p.Pro1103Leu) rs3742885 0.04730
NM_003690.5(PRKRA):c.1A>C (p.Met1Leu) rs9406386 0.04725
NM_001360.3(DHCR7):c.-23T>C rs12573951 0.04720
NM_032444.4(SLX4):c.3812C>T (p.Ser1271Phe) rs3810813 0.04718
NM_020549.5(CHAT):c.727C>T (p.Leu243Phe) rs8178990 0.04717
NM_033004.4(NLRP1):c.2633C>T (p.Thr878Met) rs11657747 0.04714
NM_000487.6(ARSA):c.1493G>A (p.Arg498His) rs6151428 0.04709
NM_006343.3(MERTK):c.844G>A (p.Ala282Thr) rs7588635 0.04692
NM_003239.5(TGFB3):c.-614C>T rs11466414 0.04686
NM_181523.3(PIK3R1):c.2109T>C (p.Leu703=) rs3729981 0.04683
NM_032638.5(GATA2):c.564G>C (p.Thr188=) rs34870876 0.04681
NM_130849.4(SLC39A4):c.1141A>G (p.Thr381Ala) rs75920625 0.04681
NM_000130.5(F5):c.4189C>T (p.Leu1397Phe) rs13306334 0.04678
NM_000249.4(MLH1):c.1039-31del rs756911937 0.04678
NM_001042472.3(ABHD12):c.191+17A>G rs747408861 0.04678
NM_003664.5(AP3B1):c.1683C>T (p.Leu561=) rs17192146 0.04676
NG_012820.2(ANK1):g.104117T>C rs77173848 0.04675
NM_001166.5(BIRC2):c.1517C>T (p.Ala506Val) rs34510872 0.04672
NM_005639.3(SYT1):c.1074G>T (p.Val358=) rs12812916 0.04670
NM_201384.3(PLEC):c.3717C>T (p.Ala1239=) rs112173070 0.04668
NM_015272.5(RPGRIP1L):c.3790G>A (p.Asp1264Asn) rs3213758 0.04663
NM_000264.5(PTCH1):c.3583A>T (p.Thr1195Ser) rs2236405 0.04656
NM_000130.5(F5):c.4210C>T (p.Pro1404Ser) rs9332608 0.04654
NM_014845.6(FIG4):c.1090A>T (p.Met364Leu) rs2295837 0.04647
NM_000540.3(RYR1):c.13317C>T (p.Ala4439=) rs113579185 0.04642
NM_006206.6(PDGFRA):c.368-3C>T rs55947416 0.04639
NM_005027.4(PIK3R2):c.2127C>T (p.Thr709=) rs112813367 0.04637
NM_001854.4(COL11A1):c.2043+8G>A rs2622875 0.04635
NM_002230.4(JUP):c.1653+10C>A rs73983658 0.04634
NM_000070.3(CAPN3):c.2380+12del rs28364538 0.04623
NM_002386.4(MC1R):c.478C>T (p.Arg160Trp) rs1805008 0.04620
NM_000487.6(ARSA):c.684+33C>T rs6151416 0.04612
NM_005022.4(PFN1):c.334C>T (p.Leu112=) rs13204 0.04611
NM_000023.4(SGCA):c.37+23G>A rs79410682 0.04607
NM_005419.4(STAT2):c.1782G>C (p.Met594Ile) rs2066807 0.04605
NM_001244008.2(KIF1A):c.4319-8C>T rs1529663 0.04602
NM_000552.5(VWF):c.6345T>A (p.Thr2115=) rs11537642 0.04599
NM_057176.3(BSND):c.127G>A (p.Val43Ile) rs34561376 0.04587
NM_001378615.1(CC2D2A):c.777C>T (p.His259=) rs2286976 0.04586
NM_032119.4(ADGRV1):c.14905T>C (p.Trp4969Arg) rs7729495 0.04586
NM_001202.6(BMP4):c.*88C>T rs74054236 0.04584
NM_015346.4(ZFYVE26):c.3365C>T (p.Ala1122Val) rs3742884 0.04583
NM_000156.6(GAMT):c.571-6G>A rs2074899 0.04569
NM_145861.4(EDARADD):c.*1593G>T rs61736989 0.04569
NM_182961.4(SYNE1):c.5190T>A (p.Asp1730Glu) rs111250109 0.04561
NM_201384.3(PLEC):c.11601C>T (p.Asp3867=) rs75833626 0.04561
NM_173660.5(DOK7):c.753G>A (p.Ala251=) rs59932476 0.04559
NM_006516.4(SLC2A1):c.1065A>G (p.Leu355=) rs2228490 0.04552
NM_002661.5(PLCG2):c.802C>T (p.Arg268Trp) rs1143687 0.04551
NM_001267550.2(TTN):c.88272G>A (p.Glu29424=) rs9808036 0.04549
NM_001367624.2(ZNF469):c.1285G>A (p.Ala429Thr) rs113937803 0.04541
NM_003721.4(RFXANK):c.144G>C (p.Glu48Asp) rs34282046 0.04540
NM_020987.5(ANK3):c.8013C>T (p.Ser2671=) rs41274674 0.04537
NM_014208.3(DSPP):c.3681C>A (p.Asp1227Glu) rs959216315 0.04533
NM_020717.5(SHROOM4):c.3168T>C (p.Arg1056=) rs61753881 0.04533
NM_005045.4(RELN):c.8136A>G (p.Leu2712=) rs3808039 0.04529
NM_001063.4(TF):c.829G>A (p.Gly277Ser) rs1799899 0.04521
NM_000016.6(ACADM):c.-142C>G rs61124994 0.04520
NM_024757.5(EHMT1):c.3087G>A (p.Val1029=) rs11137244 0.04509
NM_080916.1(DGUOK):c.-48G>A rs10186730 0.04509
NM_018136.5(ASPM):c.3269C>T (p.Ser1090Phe) rs16841081 0.04499
NM_001184.4(ATR):c.4383-47A>G rs58348002 0.04498
NM_000217.3(KCNA1):c.*2174C>T rs73050551 0.04497
NM_194248.3(OTOF):c.5655C>T (p.Arg1885=) rs45442103 0.04497
NM_000257.4(MYH7):c.2923-18G>A rs7157087 0.04493
NM_033159.4(HYAL1):c.766G>A (p.Gly256Arg) rs116482870 0.04490
NM_000754.4(COMT):c.597G>A (p.Pro199=) rs769224 0.04486
NM_000760.4(CSF3R):c.2041-75G>A rs3918001 0.04484
NM_000037.4(ANK1):c.*238T>C rs72638944 0.04478
NM_024782.3(NHEJ1):c.40G>A (p.Ala14Thr) rs34689457 0.04477
NM_004615.4(TSPAN7):c.237T>C (p.Ala79=) rs7049247 0.04476
NM_024757.5(EHMT1):c.129A>T (p.Ala43=) rs76684726 0.04476
NM_001164508.2(NEB):c.20192A>T (p.Asp6731Val) rs2288200 0.04472
NM_006031.6(PCNT):c.54+6C>T rs80017051 0.04471
NM_001735.3(C5):c.4311A>C (p.Glu1437Asp) rs17612 0.04470
NM_001378615.1(CC2D2A):c.541-25G>T rs16892080 0.04468
NM_001355436.2(SPTB):c.177C>T (p.Thr59=) rs2277503 0.04465
NM_000399.5(EGR2):c.1086A>C (p.Arg362=) rs45602133 0.04462
NM_001267550.2(TTN):c.98912G>A (p.Arg32971His) rs4894028 0.04459
NM_004113.6(FGF12):c.229-7C>T rs79608878 0.04458
NM_005689.4(ABCB6):c.1028G>A (p.Arg343Gln) rs60322991 0.04457
NC_000001.11:g.160285165G>A rs113442137 0.04456
NM_000037.4(ANK1):c.450A>G (p.Val150=) rs6982971 0.04455
NM_005105.5(RBM8A):c.*6C>G rs12079762 0.04454
NM_005477.3(HCN4):c.107G>A (p.Gly36Glu) rs143090627 0.04452
NM_004004.6(GJB2):c.*1197T>A rs11841182 0.04451
NM_005957.5(MTHFR):c.1781G>A (p.Arg594Gln) rs2274976 0.04451
NM_006563.5(KLF1):c.544T>C (p.Phe182Leu) rs2072596 0.04449
NM_000552.5(VWF):c.8113G>A (p.Gly2705Arg) rs7962217 0.04445
NM_002334.4(LRP4):c.129C>G (p.Thr43=) rs61742974 0.04439
NM_006279.5(ST3GAL3):c.892-9G>A rs80055718 0.04438
NM_004646.4(NPHS1):c.1223G>A (p.Arg408Gln) rs33950747 0.04436
NM_003921.5(BCL10):c.638G>A (p.Gly213Glu) rs3768235 0.04435
NM_001377.3(DYNC2H1):c.911A>T (p.Gln304Leu) rs12146610 0.04434
NM_001297.5(CNGB1):c.2882C>T (p.Ala961Val) rs112002818 0.04422
NM_001046.3(SLC12A2):c.303G>A (p.Ala101=) rs181849063 0.04420
NC_000006.12:g.52420216A>G rs2296196 0.04417
NM_000942.4(PPIB):c.-181G>A rs113066141 0.04416
NM_003244.4(TGIF1):c.488C>T (p.Pro163Leu) rs2229333 0.04416
NM_004933.3(CDH15):c.174C>T (p.His58=) rs2287358 0.04409
NM_005045.4(RELN):c.8120-21A>C rs73714429 0.04407
NM_145861.4(EDARADD):c.-3G>A rs79233817 0.04402
NM_004525.3(LRP2):c.4236G>C (p.Arg1412=) rs34915742 0.04398
NM_198576.4(AGRN):c.4996G>A (p.Val1666Ile) rs17160775 0.04397
NM_000302.4(PLOD1):c.2124T>C (p.His708=) rs879690 0.04396
NM_000152.3(GAA):c.2065G>A (p.Glu689Lys) rs1800309 0.04394
NM_001851.6(COL9A1):c.2299A>G (p.Met767Val) rs6910140 0.04394
NM_001365536.1(SCN9A):c.1469G>A (p.Ser490Asn) rs58022607 0.04393
NM_003383.5(VLDLR):c.1458C>T (p.Ala486=) rs6143 0.04393
NM_001365536.1(SCN9A):c.1155G>T (p.Val385=) rs58465962 0.04390
NM_014855.3(AP5Z1):c.*250T>G rs12154621 0.04386
NM_001146079.2(CLDN14):c.11C>T (p.Thr4Met) rs113831133 0.04384
NM_000123.4(ERCC5):c.1586G>C (p.Cys529Ser) rs2227869 0.04381
NM_016507.4(CDK12):c.2108+56T>A rs72827109 0.04374
NM_001114753.3(ENG):c.14C>T (p.Thr5Met) rs35400405 0.04370
NM_000492.4(CFTR):c.-8G>C rs1800501 0.04368
NM_001103.4(ACTN2):c.1296G>A (p.Ala432=) rs35956798 0.04366
NM_201384.3(PLEC):c.5583G>A (p.Ala1861=) rs75586449 0.04365
NM_004076.5(CRYBB3):c.314G>A (p.Arg105Gln) rs17670506 0.04364
NM_000239.3(LYZ):c.263C>A (p.Thr88Asn) rs1800973 0.04360
NM_025233.7(COASY):c.1486-5C>G rs74886553 0.04354
NM_014324.6(AMACR):c.*963C>T rs6898962 0.04350
NM_025114.4(CEP290):c.942+28T>C rs56149649 0.04349
NM_002775.5(HTRA1):c.778-20G>A rs74159166 0.04347
NM_000367.5(TPMT):c.719A>G (p.Tyr240Cys) rs1142345 0.04341
NM_001130987.2(DYSF):c.3575-17C>T rs13421969 0.04340
NM_032122.5(DTNBP1):c.814C>T (p.Pro272Ser) rs17470454 0.04338
NM_000081.4(LYST):c.5024-43T>G rs7543060 0.04336
NM_003283.6(TNNT1):c.33-8G>A rs76630067 0.04332
NM_005677.4(COLQ):c.366+7A>G rs750387 0.04329
NM_000506.5(F2):c.480C>T (p.Pro160=) rs3136452 0.04324
NM_006846.4(SPINK5):c.2661C>G (p.Ser887Arg) rs28408445 0.04324
NM_001077365.2(POMT1):c.913G>A (p.Val305Ile) rs4740164 0.04317
NM_000391.4(TPP1):c.441A>G (p.Glu147=) rs2555170 0.04313
NM_000942.4(PPIB):c.-171C>T rs112481305 0.04313
NM_006059.4(LAMC3):c.3790C>T (p.Arg1264Trp) rs11244275 0.04313
NM_001204.7(BMPR2):c.853-21dup rs11464745 0.04307
NM_001183.6(ATP6AP1):c.226A>G (p.Thr76Ala) rs74526112 0.04298
NM_000310.4(PPT1):c.401T>C (p.Ile134Thr) rs1800205 0.04289
NM_000152.5(GAA):c.2780C>T (p.Thr927Ile) rs1800315 0.04283
NM_000439.5(PCSK1):c.612C>T (p.Asn204=) rs6231 0.04279
NM_001366385.1(CARD14):c.2885G>A (p.Arg962Gln) rs34850974 0.04279
NM_201384.3(PLEC):c.10014C>T (p.Val3338=) rs35775257 0.04275
NM_000093.5(COL5A1):c.2745+15A>T rs79481146 0.04269
NM_015192.4(PLCB1):c.99+8T>C rs6086350 0.04263
NM_025114.4(CEP290):c.2717T>G (p.Leu906Trp) rs7970228 0.04262
NM_020975.6(RET):c.*1969T>C rs3026785 0.04255
NM_153704.6(TMEM67):c.406+1361C>T rs73324992 0.04251
NM_001164508.2(NEB):c.20467-4T>A rs199791504 0.04241
NM_031885.5(BBS2):c.718-34G>A rs79900021 0.04241
NM_032119.4(ADGRV1):c.18475A>G (p.Met6159Val) rs77469944 0.04236
NM_178161.3(PTF1A):c.*190C>T rs74121767 0.04236
NM_000601.6(HGF):c.910G>A (p.Glu304Lys) rs5745687 0.04231
NM_000163.5(GHR):c.619-28A>G rs76254681 0.04225
NM_000324.3(RHAG):c.861G>A (p.Ala287=) rs10485291 0.04217
NM_198578.4(LRRK2):c.-124G>C rs112643657 0.04210
NM_052845.4(MMAB):c.288T>C (p.Ile96=) rs62000414 0.04206
NM_032977.4(CASP10):c.1228G>A (p.Val410Ile) rs13010627 0.04193
NM_000337.6(SGCD):c.290G>A (p.Arg97Gln) rs45559835 0.04192
NM_004999.4(MYO6):c.1722C>T (p.Asp574=) rs11756446 0.04192
NM_001109809.5(ZFP57):c.559C>T (p.Arg187Cys) rs61730330 0.04190
NM_138501.6(TECR):c.799+6C>T rs10405483 0.04190
NM_000540.3(RYR1):c.13671C>G (p.Ser4557=) rs35959206 0.04188
NM_001614.5(ACTG1):c.1014G>A (p.Ser338=) rs1139807 0.04188
NM_138927.4(SON):c.2397T>C (p.Ser799=) rs200724919 0.04184
NM_000022.2(ADA):c.22G>A (p.Asp8Asn) rs73598374 0.04175
NM_012082.4(ZFPM2):c.1969A>G (p.Ser657Gly) rs28374544 0.04175
NM_001009944.3(PKD1):c.5827G>A (p.Val1943Ile) rs137978188 0.04174
NM_005159.4(ACTC1):c.*1674C>T rs112660730 0.04173
NM_001376.5(DYNC1H1):c.13372+4C>T rs17541657 0.04171
NM_001792.5(CDH2):c.352G>A (p.Ala118Thr) rs17445840 0.04171
NM_004268.5(MED17):c.1548T>C (p.Tyr516=) rs16919389 0.04169
NM_015102.5(NPHP4):c.86C>T (p.Thr29Met) rs12142270 0.04168
NM_001374828.1(ARID1B):c.1986+28T>C rs73572289 0.04166
NM_025243.4(SLC19A3):c.435C>T (p.Ser145=) rs76517176 0.04166
NM_001277115.2(DNAH11):c.1702G>A (p.Ala568Thr) rs72655988 0.04164
NM_013339.4(ALG6):c.981T>C (p.Phe327=) rs75451833 0.04164
NM_000037.4(ANK1):c.909+7A>G rs17661203 0.04158
NM_025243.4(SLC19A3):c.549T>C (p.Ala183=) rs74693100 0.04158
NM_006031.6(PCNT):c.7130C>T (p.Pro2377Leu) rs61735814 0.04156
NM_213599.3(ANO5):c.*3121A>G rs35827261 0.04156
NM_004525.3(LRP2):c.4046-6T>C rs76714416 0.04151
NM_020247.5(COQ8A):c.255T>G (p.His85Gln) rs2297411 0.04148
NM_001379610.1(SPINK1):c.174C>T (p.Cys58=) rs35737774 0.04145
NM_207346.3(TSEN54):c.568G>A (p.Val190Met) rs79508780 0.04141
NM_005327.7(HADH):c.636+13G>A rs17511214 0.04139
NM_031433.4(MFRP):c.954G>A (p.Leu318=) rs35885438 0.04136
NM_001367624.2(ZNF469):c.1143C>A (p.Pro381=) rs74032864 0.04134
NM_000282.4(PCCA):c.1423A>G (p.Ile475Val) rs35719359 0.04130
NM_005263.5(GFI1):c.107G>A (p.Ser36Asn) rs34631763 0.04129
NM_017739.4(POMGNT1):c.355-27C>T rs76693406 0.04129
NM_003072.5(SMARCA4):c.4584C>T (p.Asp1528=) rs9105 0.04127
NM_003235.5(TG):c.6395C>T (p.Ser2132Leu) rs61741457 0.04126
NM_000277.3(PAH):c.1278T>C (p.Asn426=) rs59326968 0.04124
NM_000334.4(SCN4A):c.366C>T (p.Arg122=) rs41280108 0.04121
NM_001130987.2(DYSF):c.2554A>G (p.Ile852Val) rs34671418 0.04117
NM_022095.4(ZNF335):c.2703C>T (p.Ser901=) rs3746504 0.04113
NM_014141.6(CNTNAP2):c.2099-15T>C rs75858942 0.04109
NM_001256789.3(CACNA1F):c.2673+3G>A rs41312124 0.04106
NM_182914.3(SYNE2):c.14776T>C (p.Leu4926=) rs8007874 0.04106
NM_004577.4(PSPH):c.169C>T (p.Pro57Ser) rs79321413 0.04104
NM_006019.4(TCIRG1):c.166C>T (p.Arg56Trp) rs36027301 0.04103
NM_001770.6(CD19):c.1541G>A (p.Arg514His) rs34763945 0.04099
NM_000441.2(SLC26A4):c.1826T>G (p.Val609Gly) rs17154335 0.04097
NM_000059.4(BRCA2):c.6937+440C>T rs11147488 0.04096
NM_001277115.2(DNAH11):c.1199C>T (p.Thr400Ile) rs72655982 0.04096
NM_013382.7(POMT2):c.1891+49C>T rs61990292 0.04092
NM_006363.6(SEC23B):c.1276G>A (p.Val426Ile) rs41309927 0.04091
NM_017780.4(CHD7):c.7356A>G (p.Thr2452=) rs2272727 0.04090
NM_153704.6(TMEM67):c.2892A>C (p.Thr964=) rs16916221 0.04084
NM_001110556.2(FLNA):c.3035C>T (p.Ser1012Leu) rs17091204 0.04081
NM_002775.5(HTRA1):c.753C>T (p.Ile251=) rs17624021 0.04081
NM_004525.3(LRP2):c.13155C>T (p.His4385=) rs16856476 0.04079
NM_001614.5(ACTG1):c.1026T>C (p.Gly342=) rs1139406 0.04077
NM_020680.4(SCYL1):c.600G>A (p.Lys200=) rs75169347 0.04077
NM_001267550.2(TTN):c.105782C>T (p.Pro35261Leu) rs16866380 0.04073
NM_001267550.2(TTN):c.76343G>A (p.Ser25448Asn) rs3813243 0.04071
NM_001077365.2(POMT1):c.1233C>A (p.Asp411Glu) rs11243406 0.04069
NM_000440.3(PDE6A):c.647A>G (p.Asn216Ser) rs10057110 0.04068
NM_004577.4(PSPH):c.203T>C (p.Leu68Pro) rs78067484 0.04067
NM_000754.4(COMT):c.616-45G>C rs117222687 0.04064
NM_014141.6(CNTNAP2):c.*3531G>A rs79360609 0.04060
NM_001352514.2(HLCS):c.727G>A (p.Val243Ile) rs61732502 0.04059
NM_130849.4(SLC39A4):c.63G>C (p.Thr21=) rs13251676 0.04058
NM_002633.3(PGM1):c.1145-7C>G rs72922609 0.04055
NM_001042472.3(ABHD12):c.1045G>A (p.Ala349Thr) rs746748 0.04054
NM_001164508.2(NEB):c.20598C>G (p.Gly6866=) rs16830192 0.04050
NM_001110556.2(FLNA):c.5290G>A (p.Ala1764Thr) rs57108893 0.04049
NM_033629.6(TREX1):c.912G>A (p.Leu304=) rs3135945 0.04049
NM_000335.5(SCN5A):c.2788-6C>T rs41260344 0.04041
NM_001330700.2(TOP2B):c.3955A>G (p.Thr1319Ala) rs17016875 0.04036
NM_001852.4(COL9A2):c.976C>T (p.Gln326Ter) rs12077871 0.04036
NM_000350.3(ABCA4):c.5603A>T (p.Asn1868Ile) rs1801466 0.04034
NM_000081.4(LYST):c.3989A>C (p.Asp1330Ala) rs74641549 0.04030
NM_001267550.2(TTN):c.28313G>A (p.Arg9438Gln) rs72648998 0.04030
NM_006302.3(MOGS):c.184G>A (p.Val62Met) rs79181168 0.04027
NM_000081.4(LYST):c.3713-26G>A rs9803890 0.04021
NM_022124.6(CDH23):c.9373T>C (p.Phe3125Leu) rs45583140 0.04021
NM_002474.3(MYH11):c.135C>T (p.Phe45=) rs28570191 0.04020
NM_001953.5(TYMP):c.1393G>A (p.Ala465Thr) rs112723255 0.04015
NM_000487.6(ARSA):c.1149C>T (p.Asp383=) rs6151425 0.04013
NM_000142.5(FGFR3):c.1953= (p.Thr651=) rs7688609 0.04011
NM_018965.4(TREM2):c.632T>C (p.Leu211Pro) rs2234256 0.04010
NM_000169.2(GLA):c.-105A>G rs3027583 0.04009
NM_007194.4(CHEK2):c.252A>G (p.Glu84=) rs1805129 0.04009
NM_000324.3(RHAG):c.808G>A (p.Val270Ile) rs16879498 0.04007
NM_022095.4(ZNF335):c.2595C>A (p.Asp865Glu) rs41280276 0.04003
NM_000043.6(FAS):c.46G>A (p.Ala16Thr) rs3218619 0.03995
NM_000106.6(CYP2D6):c.31G>A (p.Val11Met) rs769258 0.03995
NM_000110.4(DPYD):c.2194G>A (p.Val732Ile) rs1801160 0.03993
NM_003227.4(TFR2):c.714C>G (p.Ile238Met) rs34242818 0.03989
NM_003356.4(UCP3):c.304G>A (p.Val102Ile) rs2229707 0.03989
NM_206926.2(SELENON):c.1399-31C>T rs72877469 0.03988
NM_003235.5(TG):c.5907G>A (p.Pro1969=) rs17693031 0.03986
NM_002334.4(LRP4):c.*261C>A rs77376145 0.03985
NM_001365276.2(TNXB):c.5713G>A (p.Glu1905Lys) rs17207923 0.03984
NM_001184.4(ATR):c.5381-41C>T rs34502778 0.03983
NM_016648.4(LARP7):c.10G>A (p.Glu4Lys) rs79383654 0.03982
NM_001009944.3(PKD1):c.10225G>C (p.Val3409Leu) rs61747420 0.03980
NM_032545.4(CFC1):c.61A>C (p.Asn21His) rs199607550 0.03977
NM_030928.4(CDT1):c.1500G>T (p.Leu500=) rs3218720 0.03976
NM_198525.3(KIF7):c.-5T>G rs62021460 0.03972
NM_018418.5(SPATA7):c.1601G>A (p.Arg534Gln) rs10139784 0.03969
NM_000080.4(CHRNE):c.519C>T (p.Ala173=) rs33970119 0.03958
NM_001386140.1(MTTP):c.730C>G (p.Gln244Glu) rs17599091 0.03958
NM_194248.3(OTOF):c.2829C>T (p.Gly943=) rs73920285 0.03958
NM_139343.3(BIN1):c.894G>A (p.Ser298=) rs2228955 0.03955
NM_002474.3(MYH11):c.3866T>C (p.Val1289Ala) rs16967510 0.03954
NM_004977.3(KCNC3):c.123G>T (p.Gln41His) rs185017345 0.03953
NM_025114.4(CEP290):c.5709+25A>C rs17015438 0.03950
NM_001267550.2(TTN):c.49731T>C (p.His16577=) rs2115558 0.03943
NM_015346.4(ZFYVE26):c.3118T>A (p.Ser1040Thr) rs112787369 0.03942
NM_001352514.2(HLCS):c.567G>T (p.Glu189Asp) rs61732504 0.03941
NM_000381.4(MID1):c.661-6G>T rs868267567 0.03935
NM_198506.5(LRIT3):c.168C>T (p.Pro56=) rs17040904 0.03935
NM_001378615.1(CC2D2A):c.1127A>C (p.Glu376Ala) rs16892095 0.03933
NM_015311.3(OBSL1):c.1102C>T (p.Arg368Cys) rs35009641 0.03933
NM_031296.3(RAB33B):c.*254A>G rs78192594 0.03930
NM_005422.4(TECTA):c.56A>G (p.Gln19Arg) rs35507522 0.03926
NM_001267550.2(TTN):c.102833G>T (p.Gly34278Val) rs3731752 0.03923
NM_033343.4(LHX4):c.450C>T (p.Asn150=) rs16855642 0.03923
NM_004589.4(SCO1):c.*272T>C rs2662956 0.03921
NM_002485.5(NBN):c.896+36G>A rs1805826 0.03920
NM_174936.4(PCSK9):c.658-36G>A rs11800265 0.03919
NM_004589.4(SCO1):c.594A>G (p.Pro198=) rs2271228 0.03917
NM_002230.4(JUP):c.425G>A (p.Arg142His) rs41283425 0.03910
NM_006757.4(TNNT3):c.636T>C (p.Ile212=) rs16927166 0.03899
NM_052813.5(CARD9):c.693G>A (p.Thr231=) rs59902911 0.03899
NM_002470.4(MYH3):c.5160+30G>T rs73976871 0.03891
NM_001164508.2(NEB):c.25395T>G (p.Ser8465=) rs13031275 0.03886
NM_005045.4(RELN):c.1596G>A (p.Gln532=) rs41276154 0.03882
NM_006031.6(PCNT):c.520A>G (p.Ile174Val) rs61735822 0.03881
NM_001083961.2(WDR62):c.561+44C>G rs115806759 0.03880
NM_000552.5(VWF):c.7682T>A (p.Phe2561Tyr) rs35335161 0.03879
NM_002185.5(IL7R):c.561G>A (p.Lys187=) rs11567764 0.03877
NM_194248.3(OTOF):c.4677G>A (p.Val1559=) rs2272071 0.03875
NM_152783.5(D2HGDH):c.1107T>C (p.Asp369=) rs141343442 0.03870
NM_001009944.3(PKD1):c.1023C>T (p.Ala341=) rs11643513 0.03868
NM_000059.4(BRCA2):c.10234A>G (p.Ile3412Val) rs1801426 0.03864
NM_000497.4(CYP11B1):c.128G>A (p.Arg43Gln) rs4534 0.03864
NM_003737.4(DCHS1):c.6991G>A (p.Val2331Ile) rs7924553 0.03864
NM_001177693.2(ARHGEF28):c.4622C>G (p.Ala1541Gly) rs78992879 0.03856
NM_000043.4(FAS):c.-95G>A rs2274355 0.03855
NM_001365276.2(TNXB):c.9631C>G (p.Arg3211Gly) rs41270450 0.03853
NM_182914.3(SYNE2):c.4536A>G (p.Thr1512=) rs11158524 0.03853
NM_144670.6(A2ML1):c.2868C>T (p.Ala956=) rs56179521 0.03852
NM_018418.5(SPATA7):c.971G>A (p.Gly324Glu) rs17124677 0.03851
NM_001035.3(RYR2):c.13564-41A>G rs114289907 0.03849
NM_004525.3(LRP2):c.3836A>C (p.Asp1279Ala) rs17848149 0.03848
NM_001165963.4(SCN1A):c.2176+17A>G rs59251406 0.03846
NM_006258.4(PRKG1):c.845A>G (p.Asn282Ser) rs34997494 0.03846
NM_003244.4(TGIF1):c.576C>T (p.Val192=) rs2229335 0.03841
NM_022124.6(CDH23):c.6847G>A (p.Val2283Ile) rs41281334 0.03832
NM_018418.5(SPATA7):c.494G>A (p.Ser165Asn) rs17124662 0.03831
NM_003366.4(UQCRC2):c.548G>A (p.Arg183Gln) rs4850 0.03828
NM_001018005.2(TPM1):c.*148G>T rs7668 0.03824
NM_182961.4(SYNE1):c.9954C>T (p.Ser3318=) rs73626656 0.03822
NM_000334.4(SCN4A):c.1167T>C (p.Tyr389=) rs16947296 0.03818
NM_174934.4(SCN4B):c.174C>T (p.Cys58=) rs45539032 0.03816
NM_194248.3(OTOF):c.2703G>A (p.Ser901=) rs4997760 0.03814
NM_015512.5(DNAH1):c.11230C>T (p.Arg3744Cys) rs419752 0.03813
NM_005422.4(TECTA):c.624+11C>G rs73599492 0.03810
NM_201384.3(PLEC):c.11089C>T (p.Leu3697=) rs17062686 0.03808
NM_020987.5(ANK3):c.2565T>C (p.Asn855=) rs10994234 0.03800
NM_194248.3(OTOF):c.*372C>T rs56025829 0.03793
NM_020975.6(RET):c.2508C>T (p.Ser836=) rs1800862 0.03791
NM_001042492.3(NF1):c.6148-29_6148-28insA rs66638017 0.03789
NM_017755.6(NSUN2):c.622+7A>T rs16877704 0.03788
NM_022124.6(CDH23):c.-258G>A rs139742443 0.03782
NM_021922.3(FANCE):c.611C>T (p.Ser204Leu) rs7761870 0.03770
NM_001009944.3(PKD1):c.3111A>G (p.Leu1037=) rs2099534 0.03768
NM_000552.5(VWF):c.3795G>A (p.Pro1265=) rs2228319 0.03767
NM_000821.7(GGCX):c.725+20G>T rs78185751 0.03763
NM_182914.3(SYNE2):c.14737G>A (p.Glu4913Lys) rs12881815 0.03757
NM_022437.3(ABCG8):c.-15A>C rs72647315 0.03755
NM_144508.5(KNL1):c.245T>C (p.Met82Thr) rs79413475 0.03753
NM_005045.4(RELN):c.8508C>T (p.Phe2836=) rs2229862 0.03751
NM_020975.6(RET):c.*1591G>A rs76759170 0.03751
NM_006941.4(SOX10):c.249C>T (p.Tyr83=) rs73415876 0.03745
NM_207352.4(CYP4V2):c.823G>A (p.Glu275Lys) rs34745240 0.03745
NM_004646.4(NPHS1):c.2971G>C (p.Val991Leu) rs34736717 0.03743
NM_001267550.2(TTN):c.100579G>A (p.Val33527Ile) rs2278196 0.03742
NM_000410.4(HFE):c.845G>A (p.Cys282Tyr) rs1800562 0.03738
NM_025114.4(CEP290):c.7035-38C>G rs45477492 0.03735
NM_001267550.2(TTN):c.48996G>A (p.Glu16332=) rs72677244 0.03734
NM_001012720.2(RGR):c.722C>T (p.Ser241Phe) rs61730895 0.03728
NM_006610.4(MASP2):c.377C>T (p.Pro126Leu) rs56392418 0.03726
NM_004993.6(ATXN3):c.891A>G (p.Gln297=) rs12896583 0.03723
NM_182758.4(WDR72):c.942G>T (p.Val314=) rs12905755 0.03719
NM_000513.2(OPN1MW):c.465C>G (p.Val155=) rs368356511 0.03718
NM_201384.3(PLEC):c.718+10C>T rs12545876 0.03717
NM_018112.3(TMEM38B):c.761G>C (p.Cys254Ser) rs35232724 0.03714
NM_201384.3(PLEC):c.11599G>C (p.Asp3867His) rs62642465 0.03714
NM_016156.6(MTMR2):c.1504G>C (p.Glu502Gln) rs61735578 0.03711
NM_024809.5(TCTN2):c.-55C>A rs78846567 0.03708
NM_022124.6(CDH23):c.4310G>A (p.Arg1437Gln) rs56181447 0.03706
NM_030787.4(CFHR5):c.434G>A (p.Gly145Glu) rs57960694 0.03706
NM_000295.5(SERPINA1):c.840T>C (p.Asp280=) rs1049800 0.03703
NM_001753.5(CAV1):c.156C>T (p.Val52=) rs10029 0.03703
NM_001267550.2(TTN):c.51482C>T (p.Ala17161Val) rs16866412 0.03700
NM_002529.4(NTRK1):c.1838G>T (p.Gly613Val) rs6339 0.03698
NM_201384.3(PLEC):c.6314C>T (p.Ala2105Val) rs74772299 0.03697
NM_002529.4(NTRK1):c.1810C>T (p.His604Tyr) rs6336 0.03696
NM_182914.3(SYNE2):c.7040C>A (p.Ala2347Glu) rs34625768 0.03696
NM_182914.3(SYNE2):c.7075A>G (p.Ser2359Gly) rs7157465 0.03696
NM_000525.4(KCNJ11):c.808C>G (p.Leu270Val) rs1800467 0.03694
NM_001142864.4(PIEZO1):c.1013C>A (p.Ser338Tyr) rs112081600 0.03693
NM_000037.4(ANK1):c.1320G>A (p.Pro440=) rs28533718 0.03689
NM_001134888.3(RTL1):c.3323G>A (p.Arg1108Gln) rs117476938 0.03687
NM_032531.4(KIRREL3):c.568A>G (p.Ile190Val) rs111418068 0.03684
NM_173477.5(USH1G):c.388A>G (p.Lys130Glu) rs111033465 0.03680
NM_003919.3(SGCE):c.1253+812G>A rs559235992 0.03668
NM_032409.3(PINK1):c.344A>T (p.Gln115Leu) rs148871409 0.03666
NM_080425.4(GNAS):c.627G>A (p.Lys209=) rs74934823 0.03663
NM_001379610.1(SPINK1):c.-41G>A rs79438751 0.03655
NM_000195.5(HPS1):c.11T>C (p.Val4Ala) rs58548334 0.03653
NM_006493.4(CLN5):c.173+8C>T rs9565308 0.03653
NM_001042413.2(GLIS3):c.2686C>T (p.Leu896Phe) rs76094493 0.03652
NM_012414.4(RAB3GAP2):c.2088A>G (p.Thr696=) rs2577126 0.03652
NM_000133.4(F9):c.391+7A>G rs6049 0.03649
NM_000552.5(VWF):c.4138A>G (p.Ile1380Val) rs11063988 0.03649
NM_003235.5(TG):c.2443G>A (p.Gly815Arg) rs16904774 0.03645
NM_005751.5(AKAP9):c.4199T>C (p.Met1400Thr) rs73407505 0.03644
NM_001177693.2(ARHGEF28):c.3294T>C (p.Ala1098=) rs61734875 0.03643
NM_007259.5(VPS45):c.246T>G (p.Ile82Met) rs62622370 0.03643
NM_005765.3(ATP6AP2):c.268C>G (p.Pro90Ala) rs9014 0.03641
NM_001267550.2(TTN):c.30952G>A (p.Glu10318Lys) rs73038324 0.03639
NM_000511.6(FUT2):c.73A>G (p.Ile25Val) rs1800021 0.03636
NM_138694.4(PKHD1):c.11340T>C (p.Pro3780=) rs17667728 0.03636
NM_001308093.3(GATA4):c.1059C>T (p.Asn353=) rs3729855 0.03634
NM_022095.4(ZNF335):c.1623C>T (p.His541=) rs16990964 0.03634
NM_152419.3(HGSNAT):c.1567A>C (p.Lys523Gln) rs73569592 0.03631
NM_022095.4(ZNF335):c.2253+10G>T rs6130977 0.03629
NM_001510.4(GRID2):c.203C>T (p.Thr68Met) rs34144324 0.03628
NM_014141.6(CNTNAP2):c.1710G>A (p.Ser570=) rs2286128 0.03626
NM_025114.4(CEP290):c.2368-37T>G rs115837670 0.03623
NM_000384.3(APOB):c.11904-7C>T rs12720851 0.03622
NM_001114753.3(ENG):c.1060C>T (p.Leu354=) rs36092484 0.03618
NM_000402.4(G6PD):c.292G>A (p.Val98Met) rs1050828 0.03616
NM_000702.4(ATP1A2):c.1704C>T (p.Phe568=) rs17846714 0.03612
NM_001164508.2(NEB):c.16762T>A (p.Ser5588Thr) rs35227368 0.03610
NM_152564.5(VPS13B):c.3667-7C>T rs35543295 0.03607
NM_000433.4(NCF2):c.1167C>A (p.His389Gln) rs17849502 0.03605
NM_004577.4(PSPH):c.194G>A (p.Arg65His) rs200442078 0.03604
NM_001122955.4(BSCL2):c.60C>G (p.Asp20Glu) rs115116507 0.03600
NM_001244008.2(KIF1A):c.234C>T (p.Gly78=) rs61744930 0.03600
NM_015512.5(DNAH1):c.1321G>C (p.Val441Leu) rs13060192 0.03599
NM_002474.3(MYH11):c.5172-14C>T rs34839877 0.03595
NM_001353214.3(DYM):c.1914G>C (p.Val638=) rs60818038 0.03594
NM_000552.5(VWF):c.2451T>A (p.His817Gln) rs57950734 0.03591
NM_022081.6(HPS4):c.558G>A (p.Ser186=) rs13054747 0.03591
NM_000251.3(MSH2):c.2005+42G>T rs17218446 0.03590
NM_001611.5(ACP5):c.661G>A (p.Val221Ile) rs2229532 0.03581
NM_001199397.3(NEK1):c.1388C>T (p.Ala463Val) rs34540355 0.03580
NM_014324.6(AMACR):c.*1070C>T rs16892064 0.03575
NM_032545.4(CFC1):c.588C>A (p.Pro196=) rs587780885 0.03574
NM_000541.5(SAG):c.375+11C>T rs74356516 0.03568
NM_018699.4(PRDM5):c.849G>A (p.Gln283=) rs17051264 0.03566
NM_018418.5(SPATA7):c.284A>G (p.Gln95Arg) rs61747004 0.03565
NM_018418.5(SPATA7):c.357T>G (p.Phe119Leu) rs35137272 0.03565
NM_019066.5(MAGEL2):c.3151C>A (p.Leu1051Ile) rs2233070 0.03565
NM_015135.3(NUP205):c.4008C>T (p.Ala1336=) rs11550518 0.03564
NM_032119.4(ADGRV1):c.14029T>C (p.Phe4677Leu) rs62000408 0.03559
NM_033337.3(CAV3):c.166G>A (p.Gly56Ser) rs72546667 0.03558
NM_144997.7(FLCN):c.1233G>A (p.Glu411=) rs61750032 0.03557
NM_000218.3(KCNQ1):c.*411C>T rs45460605 0.03555
NM_003748.4(ALDH4A1):c.-4C>A rs9426797 0.03554
NM_022089.4(ATP13A2):c.3144C>G (p.Thr1048=) rs56126202 0.03553
NM_006017.3(PROM1):c.1768-5C>T rs55708318 0.03551
NM_000217.3(KCNA1):c.-134G>T rs12817318 0.03550
NM_001267550.2(TTN):c.69145A>G (p.Ile23049Val) rs72646881 0.03550
NM_133642.5(LARGE1):c.1731-24T>C rs73399532 0.03540
NM_032119.4(ADGRV1):c.12927G>A (p.Ala4309=) rs35092519 0.03534
NM_014425.5(INVS):c.273+46C>T rs76975466 0.03524
NM_001267550.2(TTN):c.93901G>A (p.Val31301Ile) rs67665715 0.03523
NM_001165963.4(SCN1A):c.3723T>C (p.Tyr1241=) rs36031496 0.03519
NM_006031.6(PCNT):c.720+32C>T rs114224027 0.03510
NM_000180.4(GUCY2D):c.2101C>T (p.Pro701Ser) rs34598902 0.03505
NM_194248.3(OTOF):c.509+10A>G rs76712142 0.03505
NM_000093.5(COL5A1):c.4560C>T (p.Ile1520=) rs2228559 0.03503
NM_001267550.2(TTN):c.82798G>A (p.Ala27600Thr) rs11896637 0.03502
NM_001849.4(COL6A2):c.714+9C>T rs78822624 0.03502
NM_001843.4(CNTN1):c.1893T>C (p.His631=) rs2229929 0.03490
NM_022168.4(IFIH1):c.2808-75G>T rs3761652 0.03489
NM_006031.6(PCNT):c.3580G>A (p.Ala1194Thr) rs35044802 0.03488
NM_173495.3(PTCHD1):c.93G>A (p.Ala31=) rs12014412 0.03486
NM_001365088.1(SLC12A6):c.1944-26C>T rs34807905 0.03484
NM_022168.4(IFIH1):c.1524+90G>A rs16846555 0.03482
NM_000069.3(CACNA1S):c.206C>G (p.Ala69Gly) rs12406479 0.03481
NM_001355436.2(SPTB):c.4121A>G (p.His1374Arg) rs10132778 0.03475
NM_002335.4(LRP5):c.1999G>A (p.Val667Met) rs4988321 0.03472
NM_020070.4(IGLL1):c.566G>A (p.Arg189His) rs8138122 0.03470
NM_021625.5(TRPV4):c.55C>T (p.Pro19Ser) rs3742030 0.03470
NM_001267550.2(TTN):c.4177A>G (p.Ile1393Val) rs16866531 0.03468
NM_003200.5(TCF3):c.1475C>T (p.Ala492Val) rs2074888 0.03468
NM_021999.5(ITM2B):c.81C>T (p.Leu27=) rs11556899 0.03464
NM_024642.5(GALNT12):c.136G>A (p.Gly46Arg) rs10987768 0.03464
NM_000018.4(ACADVL):c.194C>T (p.Pro65Leu) rs28934585 0.03462
NM_014675.5(CROCC):c.904C>G (p.Gln302Glu) rs143501240 0.03461
NM_017775.3(TTC19):c.-347C>A rs60636875 0.03461
NM_001127222.2(CACNA1A):c.1782-20C>T rs73513425 0.03460
NM_000168.6(GLI3):c.4007G>A (p.Gly1336Glu) rs35280470 0.03456
NM_032119.4(ADGRV1):c.6289C>T (p.Arg2097Cys) rs16868974 0.03455
NM_001277115.2(DNAH11):c.7756T>C (p.Tyr2586His) rs2003417 0.03454
NM_001324144.2(ZNF41):c.374T>G (p.Ile125Arg) rs17147624 0.03453
NM_001953.5(TYMP):c.831G>A (p.Leu277=) rs8141558 0.03453
NM_000021.4(PSEN1):c.*364T>C rs362385 0.03451
NM_000168.6(GLI3):c.4609C>T (p.Arg1537Cys) rs35364414 0.03450
NM_000552.5(VWF):c.4304A>G (p.Asn1435Ser) rs11063987 0.03448
NM_001009944.3(PKD1):c.8913T>C (p.Ala2971=) rs9926309 0.03447
NM_015512.5(DNAH1):c.3853C>T (p.Arg1285Trp) rs61734640 0.03447
NM_001130987.2(DYSF):c.460+17G>C rs115170960 0.03446
NM_015512.5(DNAH1):c.2430C>T (p.Thr810=) rs35982798 0.03445
NM_152618.3(BBS12):c.1286G>C (p.Ser429Thr) rs7665271 0.03441
NM_002206.3(ITGA7):c.824G>A (p.Arg275His) rs74867235 0.03438
NM_015512.5(DNAH1):c.10317C>T (p.Ile3439=) rs419050 0.03434
NM_004370.6(COL12A1):c.6479A>T (p.Glu2160Val) rs35523808 0.03432
NM_005902.4(SMAD3):c.508A>G (p.Ile170Val) rs35874463 0.03431
NM_005297.4(MCHR1):c.100G>A (p.Gly34Arg) rs11914085 0.03430
NM_000283.4(PDE6B):c.*20C>A rs61760239 0.03429
NM_002354.3(EPCAM):c.904-12T>C rs62139669 0.03423
NM_012452.3(TNFRSF13B):c.291T>G (p.Pro97=) rs35062843 0.03423
NM_001127222.2(CACNA1A):c.1626G>A (p.Thr542=) rs16011 0.03420
NM_016648.4(LARP7):c.836G>A (p.Arg279Gln) rs62317770 0.03420
NM_194248.3(OTOF):c.2613C>T (p.Leu871=) rs2272068 0.03420
NM_001711.6(BGN):c.564C>T (p.Ile188=) rs2070933 0.03419
NM_003126.4(SPTA1):c.2909C>A (p.Ala970Asp) rs35948326 0.03419
NM_001267550.2(TTN):c.105180G>C (p.Glu35060Asp) rs56308529 0.03418
NM_031885.5(BBS2):c.1659+3A>G rs6499838 0.03415
NM_004615.4(TSPAN7):c.441C>T (p.Ser147=) rs111440990 0.03414
NM_001710.6(CFB):c.26T>A (p.Leu9His) rs4151667 0.03411
NM_201384.3(PLEC):c.11913G>A (p.Ala3971=) rs73715559 0.03410
NM_013275.6(ANKRD11):c.6787C>T (p.Pro2263Ser) rs76793093 0.03409
NM_015346.4(ZFYVE26):c.1224G>T (p.Gly408=) rs17104689 0.03409
NM_014915.3(ANKRD26):c.1207+15A>G rs115864032 0.03406
NM_032444.4(SLX4):c.3162G>A (p.Ser1054=) rs76488917 0.03405
NM_020919.4(ALS2):c.2841+48del rs141560438 0.03404
NM_001385161.1(MR1):c.138G>A (p.Ser46=) rs3863720 0.03401
NM_006031.6(PCNT):c.6571T>C (p.Ser2191Pro) rs34151633 0.03401
NM_152564.5(VPS13B):c.11565A>G (p.Ser3855=) rs7844645 0.03400
NM_182961.4(SYNE1):c.14917C>T (p.Leu4973=) rs35085679 0.03400
NM_000071.3(CBS):c.317-46G>C rs75873792 0.03396
NM_153240.5(NPHP3):c.*266G>A rs11708200 0.03396
NM_001851.6(COL9A1):c.1066-3T>C rs16868869 0.03394
NM_015135.3(NUP205):c.3156G>A (p.Ala1052=) rs61734146 0.03390
NM_201384.3(PLEC):c.2548G>A (p.Ala850Thr) rs58836306 0.03390
NM_000504.4(F10):c.-40C>T rs3212994 0.03388
NM_152419.3(HGSNAT):c.493+46G>T rs72647302 0.03382
NM_181741.4(ORC4):c.166C>G (p.Leu56Val) rs2307397 0.03380
NM_001244008.2(KIF1A):c.2235C>T (p.Ala745=) rs35945835 0.03379
NM_001366385.1(CARD14):c.1170C>T (p.Phe390=) rs74951924 0.03377
NM_000363.5(TNNI3):c.198G>A (p.Glu66=) rs3729710 0.03372
NM_000520.6(HEXA):c.1195A>G (p.Asn399Asp) rs1800430 0.03370
NM_004360.5(CDH1):c.48+5C>G rs77312180 0.03370
NM_001164508.2(NEB):c.16284+11A>G rs367881797 0.03368
NM_002860.4(ALDH18A1):c.-79A>G rs117502632 0.03368
NM_001458.5(FLNC):c.3838C>T (p.Leu1280=) rs34180031 0.03367
NM_000393.5(COL5A2):c.1378C>T (p.Pro460Ser) rs35830636 0.03364
NM_001034853.2(RPGR):c.223A>G (p.Ile75Val) rs111631988 0.03363
NM_001079802.2(FKTN):c.373G>A (p.Gly125Ser) rs34006675 0.03359
NM_000552.5(VWF):c.6798+14C>T rs7315124 0.03357
NM_001365276.2(TNXB):c.4241G>A (p.Arg1414Gln) rs9267799 0.03355
NM_177402.5(SYT2):c.804G>A (p.Pro268=) rs115267501 0.03354
NM_001256317.3(TMPRSS3):c.268G>A (p.Ala90Thr) rs45598239 0.03352
NM_018668.5(VPS33B):c.1405+36G>A rs116787959 0.03351
NM_000093.5(COL5A1):c.2892C>T (p.Gly964=) rs78511105 0.03349
NM_138501.6(TECR):c.462C>A (p.Gly154=) rs76484116 0.03349
NM_025137.4(SPG11):c.3420G>A (p.Leu1140=) rs36014111 0.03348
NM_015135.3(NUP205):c.344-9C>G rs12539427 0.03347
NM_194248.3(OTOF):c.2402A>T (p.Glu801Val) rs61739883 0.03338
NM_001379500.1(COL18A1):c.2340G>C (p.Gln780His) rs2230693 0.03336
NM_000447.3(PSEN2):c.903G>T (p.Thr301=) rs6426553 0.03334
NM_003283.6(TNNT1):c.193-42C>G rs73060953 0.03330
NM_194248.3(OTOF):c.2401G>T (p.Glu801Ter) rs75624587 0.03330
NM_001130987.2(DYSF):c.1914C>T (p.Tyr638=) rs35721373 0.03329
NM_002739.5(PRKCG):c.285C>T (p.Asp95=) rs17854523 0.03329
NM_004960.4(FUS):c.153C>T (p.Gly51=) rs61733962 0.03329
NM_000260.4(MYO7A):c.*230A>G rs112830819 0.03328
NM_005529.7(HSPG2):c.3744-65C>T rs34855688 0.03328
NM_182760.4(SUMF1):c.445-22T>C rs711634 0.03328
NM_001146079.2(CLDN14):c.*51G>A rs114551506 0.03325
NM_025132.4(WDR19):c.3250G>A (p.Gly1084Ser) rs16995209 0.03324
NM_001378030.1(CCDC78):c.549G>A (p.Leu183=) rs8055909 0.03323
NM_030957.4(ADAMTS10):c.3102G>A (p.Thr1034=) rs10405956 0.03322
NM_001287.6(CLCN7):c.900G>A (p.Ala300=) rs41286695 0.03320
NM_001377.3(DYNC2H1):c.2454G>A (p.Glu818=) rs77738279 0.03320
NM_001009944.3(PKD1):c.8949-20G>A rs9936029 0.03318
NM_001256545.2(MEGF10):c.3162G>A (p.Pro1054=) rs17164938 0.03315
NM_014363.6(SACS):c.909A>G (p.Ala303=) rs41315020 0.03313
NM_001130987.2(DYSF):c.951+39T>C rs74384941 0.03312
NM_018006.5(TRMU):c.1192C>T (p.Arg398Cys) rs34152016 0.03308
NM_000063.6(C2):c.954G>C (p.Glu318Asp) rs9332739 0.03307
NM_001927.4(DES):c.736-35C>A rs41272701 0.03306
NM_015426.5(POC1A):c.1044G>T (p.Gln348His) rs35898691 0.03302
NM_013391.3(DMGDH):c.1684-22A>G rs41272268 0.03300
NM_014694.4(ADAMTSL2):c.2325C>G (p.Ser775=) rs2301606 0.03295
NM_006343.3(MERTK):c.60A>T (p.Arg20Ser) rs35898499 0.03294
NM_014140.4(SMARCAL1):c.1129G>C (p.Glu377Gln) rs2066518 0.03294
NM_003072.5(SMARCA4):c.1413G>A (p.Lys471=) rs17001073 0.03292
NM_024876.4(COQ8B):c.1055C>G (p.Thr352Arg) rs36012476 0.03290
NM_001710.6(CFB):c.504G>A (p.Pro168=) rs4151669 0.03288
NM_182914.3(SYNE2):c.14734C>G (p.Pro4912Ala) rs17766354 0.03286
NM_000070.3(CAPN3):c.1029+3A>G rs28364442 0.03285
NM_203447.4(DOCK8):c.3208A>G (p.Asn1070Asp) rs73382631 0.03284
NM_001723.7(DST):c.4980A>C (p.Val1660=) rs2230863 0.03282
NM_182914.3(SYNE2):c.3559A>C (p.Ile1187Leu) rs57259697 0.03281
NM_000017.4(ACADS):c.511C>T (p.Arg171Trp) rs1800556 0.03280
NM_003632.3(CNTNAP1):c.1628+5C>T rs78630052 0.03280
NM_014844.5(TECPR2):c.2050C>G (p.Leu684Val) rs45467297 0.03279
NM_182914.3(SYNE2):c.2409C>A (p.Ser803=) rs17101525 0.03277
NM_182961.4(SYNE1):c.22473G>A (p.Leu7491=) rs34891041 0.03277
NM_025243.4(SLC19A3):c.520G>A (p.Val174Ile) rs59736804 0.03276
NM_001083961.2(WDR62):c.3514+44G>A rs45468494 0.03274
NM_000540.3(RYR1):c.12094+11A>G rs73933018 0.03267
NM_001171.6(ABCC6):c.346-6G>A rs55778939 0.03265
NM_001848.3(COL6A1):c.1773G>A (p.Pro591=) rs74852641 0.03265
NM_001243133.2(NLRP3):c.2107C>A (p.Gln703Lys) rs35829419 0.03262
NM_000702.4(ATP1A2):c.1652-11C>G rs17846713 0.03261
NM_004531.5(MOCS2):c.148A>G (p.Thr50Ala) rs2233213 0.03260
NM_004531.5(MOCS2):c.255A>G (p.Lys85=) rs2233216 0.03257
NM_139027.6(ADAMTS13):c.3108G>A (p.Ser1036=) rs34934621 0.03257
NM_000051.4(ATM):c.8418+78A>G rs11824991 0.03255
NM_007262.5(PARK7):c.234C>T (p.Gly78=) rs11548937 0.03255
NM_012330.4(KAT6B):c.4495G>A (p.Val1499Ile) rs3740321 0.03254
NM_000062.3(SERPING1):c.-21T>C rs28362944 0.03250
NM_020632.3(ATP6V0A4):c.1888G>A (p.Ala630Thr) rs73730479 0.03249
NM_001034853.2(RPGR):c.620-41T>C rs45486397 0.03245
NM_032383.5(HPS3):c.1479G>A (p.Thr493=) rs34197730 0.03245
NM_001130987.2(DYSF):c.666T>C (p.Pro222=) rs35392229 0.03244
NM_016013.4(NDUFAF1):c.-379C>T rs146883891 0.03244
NM_000520.6(HEXA):c.9C>T (p.Ser3=) rs1800428 0.03241
NM_033380.3(COL4A5):c.3519T>G (p.Gly1173=) rs61735627 0.03239
NM_022367.4(SEMA4A):c.2138G>A (p.Arg713Gln) rs41265017 0.03238
NM_033100.4(CDHR1):c.2434C>T (p.Pro812Ser) rs45584033 0.03229
NM_001103.4(ACTN2):c.2139G>A (p.Thr713=) rs34975493 0.03228
NM_194248.3(OTOF):c.158C>T (p.Ala53Val) rs1879761 0.03226
NM_000751.3(CHRND):c.120G>A (p.Lys40=) rs55921262 0.03225
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881 0.03225
NC_000011.10:g.124936088A>G rs6590110 0.03224
NM_003235.5(TG):c.3933G>A (p.Ala1311=) rs16904786 0.03224
NM_177965.4(CFAP418):c.55C>G (p.Pro19Ala) rs36096184 0.03219
NM_001083961.2(WDR62):c.4153+37C>G rs58041656 0.03218
NM_032119.4(ADGRV1):c.10872A>G (p.Gln3624=) rs17624033 0.03213
NM_001723.7(DST):c.5055T>C (p.Asn1685=) rs2230864 0.03211
NM_003476.5(CSRP3):c.150G>A (p.Ala50=) rs7124801 0.03207
NM_024649.5(BBS1):c.700G>A (p.Glu234Lys) rs35520756 0.03206
NM_005422.4(TECTA):c.5733T>G (p.Val1911=) rs516678 0.03205
NM_001018115.3(FANCD2):c.2712C>T (p.Asn904=) rs35594075 0.03203
NM_001190417.2(ZNF674):c.1013C>T (p.Thr338Met) rs61730637 0.03202
NM_000439.5(PCSK1):c.661A>G (p.Asn221Asp) rs6232 0.03201
NM_001184.4(ATR):c.3725+18A>G rs73864554 0.03201
NM_012179.4(FBXO7):c.540A>G (p.Pro180=) rs41311141 0.03195
NM_001365276.2(TNXB):c.11062C>G (p.Arg3688Gly) rs763909762 0.03194
NM_000834.5(GRIN2B):c.15G>A (p.Ala5=) rs34315573 0.03193
NM_002087.4(GRN):c.384T>C (p.Asp128=) rs25646 0.03192
NM_013964.5(NRG1):c.781G>T (p.Val261Leu) rs74942016 0.03191
NM_002334.4(LRP4):c.1501A>C (p.Asn501His) rs72897663 0.03190
NM_000136.3(FANCC):c.*116A>C rs7048910 0.03187
NM_000384.3(APOB):c.538-9C>T rs1800478 0.03185
NM_001360016.2(G6PD):c.1116G>A (p.Gln372=) rs2230036 0.03179
NM_001849.4(COL6A2):c.2163G>A (p.Gln721=) rs16978875 0.03177
NM_013296.5(GPSM2):c.753A>G (p.Ala251=) rs12069435 0.03167
NM_001130987.2(DYSF):c.1985-31C>A rs13424178 0.03166
NM_001558.4(IL10RA):c.1259C>T (p.Ser420Leu) rs2229114 0.03163
NM_000435.3(NOTCH3):c.6438G>A (p.Ala2146=) rs1044008 0.03162
NM_001166114.2(PNPLA6):c.2547G>A (p.Ser849=) rs522776 0.03161
NM_001364171.2(ODAD1):c.247C>T (p.Arg83Trp) rs16981988 0.03160
NM_001999.4(FBN2):c.203C>T (p.Ala68Val) rs62390671 0.03159
NM_001288705.3(CSF1R):c.2535C>G (p.Leu845=) rs56327604 0.03157
NM_139027.6(ADAMTS13):c.2910C>T (p.Val970=) rs28641026 0.03155
NM_001379610.1(SPINK1):c.194+90A>T rs112569673 0.03151
NM_000093.5(COL5A1):c.1588G>A (p.Gly530Ser) rs61735045 0.03150
NM_032119.4(ADGRV1):c.16248C>T (p.Val5416=) rs3763073 0.03149
NM_006351.4(TIMM44):c.1114A>G (p.Ile372Val) rs11542187 0.03146
NM_001277115.2(DNAH11):c.12508-12T>C rs72658822 0.03145
NM_032634.4(PIGO):c.*267C>G rs79276933 0.03143
NM_006073.4(TRDN):c.1805-6C>T rs201544606 0.03141
NM_001379610.1(SPINK1):c.36G>C (p.Leu12Phe) rs35877720 0.03139
NM_000334.4(SCN4A):c.4288+10G>T rs114059193 0.03137
NM_013296.5(GPSM2):c.1370C>T (p.Thr457Met) rs35089879 0.03137
NM_001378778.1(MPDZ):c.5723G>A (p.Arg1908Lys) rs34605667 0.03134
NM_000051.4(ATM):c.4578C>T (p.Pro1526=) rs1800889 0.03133
NM_001009944.3(PKD1):c.1714C>T (p.Pro572Ser) rs149022148 0.03132
NM_002230.4(JUP):c.405C>T (p.Asp135=) rs17850807 0.03129
NM_000142.5(FGFR3):c.588C>T (p.Arg196=) rs2305180 0.03125
NM_182914.3(SYNE2):c.10567A>C (p.Lys3523Gln) rs35203186 0.03124
NM_000130.5(F5):c.6443T>C (p.Met2148Thr) rs9332701 0.03115
NM_002075.4(GNB3):c.699+115del rs1482567541 0.03114
NM_000155.4(GALT):c.945T>C (p.His315=) rs61735982 0.03111
NM_001453.3(FOXC1):c.889C>T (p.Pro297Ser) rs79691946 0.03108
NM_178452.6(DNAAF1):c.*18T>C rs2288024 0.03108
NM_002230.4(JUP):c.*709G>C rs56339743 0.03106
NM_000257.4(MYH7):c.1605A>G (p.Glu535=) rs2069543 0.03103
NM_003640.5(ELP1):c.3037G>A (p.Gly1013Ser) rs2230795 0.03103
NM_001369369.1(FOXN1):c.1288C>T (p.Pro430Ser) rs61749867 0.03097
NM_032119.4(ADGRV1):c.13232-7A>G rs2438358 0.03097
NM_001164508.2(NEB):c.21963A>G (p.Lys7321=) rs61730765 0.03096
NM_002230.4(JUP):c.*286C>T rs73983656 0.03095
NM_181078.3(IL21R):c.1450G>A (p.Gly484Ser) rs3093386 0.03095
NM_015346.4(ZFYVE26):c.7232G>A (p.Arg2411His) rs34373049 0.03090
NM_005045.4(RELN):c.5351+3A>G rs6967725 0.03089
NM_001384732.1(CPLANE1):c.378G>A (p.Gly126=) rs73750958 0.03087
NM_005956.4(MTHFD1):c.2305C>T (p.Leu769Phe) rs17857382 0.03087
NM_000350.3(ABCA4):c.5843C>T (p.Pro1948Leu) rs56142141 0.03086
NM_002474.3(MYH11):c.5370C>T (p.Leu1790=) rs35295469 0.03086
NM_022039.4(FBXW4):c.534C>G (p.Ala178=) rs61761937 0.03084
NM_021076.4(NEFH):c.2009T>A (p.Val670Glu) rs190692435 0.03078
NM_013296.5(GPSM2):c.278+5T>C rs9727773 0.03074
NM_020745.4(AARS2):c.2188G>A (p.Val730Met) rs35623954 0.03069
NM_139343.3(BIN1):c.1595C>T (p.Thr532Met) rs112318500 0.03069
NM_000059.4(BRCA2):c.7007+273G>A rs11571681 0.03067
NM_001735.3(C5):c.3929G>A (p.Ser1310Asn) rs17610 0.03067
NM_053025.4(MYLK):c.4620-12G>A rs41301337 0.03066
NM_020401.4(NUP107):c.534A>G (p.Glu178=) rs35054844 0.03065
NM_000081.4(LYST):c.5923-19G>T rs141197189 0.03063
NM_015404.4(WHRN):c.1515G>A (p.Ala505=) rs34252199 0.03063
NM_004409.5(DMPK):c.504G>A (p.Pro168=) rs34510782 0.03062
NM_003322.6(TULP1):c.1362G>A (p.Thr454=) rs41270076 0.03061
NM_001363711.2(DUOX2):c.1302A>G (p.Arg434=) rs78412174 0.03060
NM_000096.4(CP):c.2991T>C (p.His997=) rs34394958 0.03059
NM_005751.5(AKAP9):c.3318+13C>A rs73403768 0.03055
NM_006904.7(PRKDC):c.999G>A (p.Met333Ile) rs8178017 0.03054
NM_020987.5(ANK3):c.909A>C (p.Thr303=) rs73269474 0.03053
NM_004183.4(BEST1):c.*133T>C rs1801621 0.03051
NM_206937.2(LIG4):c.2569G>A (p.Ala857Thr) rs2232642 0.03050
NM_025000.4(DCAF17):c.555T>A (p.His185Gln) rs3731984 0.03047
NM_004752.4(GCM2):c.607G>A (p.Gly203Ser) rs7744163 0.03045
NM_000447.3(PSEN2):c.708T>C (p.Ser236=) rs61730652 0.03044
NM_020751.3(COG6):c.1693-6A>T rs78336861 0.03044
NM_000342.4(SLC4A1):c.1249C>T (p.Leu417=) rs5015 0.03041
NM_004629.2(FANCG):c.1133C>T (p.Ser378Leu) rs4986939 0.03038
NM_001330700.2(TOP2B):c.4851A>T (p.Glu1617Asp) rs61739570 0.03035
NM_020070.4(IGLL1):c.475G>A (p.Gly159Ser) rs139571703 0.03034
NM_001082971.2(DDC):c.649A>G (p.Met217Val) rs6263 0.03032
NM_001130987.2(DYSF):c.1577-1635C>G rs76402294 0.03029
NM_001128178.3(NPHP1):c.771+39C>T rs73954628 0.03028
NM_001324144.2(ZNF41):c.660T>G (p.Asn220Lys) rs34301930 0.03028
NM_001737.5(C9):c.607A>G (p.Ile203Val) rs13361416 0.03019
NM_003072.5(SMARCA4):c.1509A>G (p.Ala503=) rs17001075 0.03015
NM_001253852.3(AP4B1):c.402A>C (p.Ser134=) rs34751342 0.03013
NM_020987.5(ANK3):c.12769A>G (p.Ile4257Val) rs12261793 0.03012
NM_001379110.1(SLC9A6):c.1689C>T (p.Ser563=) rs2307131 0.03011
NM_001142864.4(PIEZO1):c.3456-11C>T rs77276858 0.03009
NM_001164508.2(NEB):c.19102-6C>T rs145127681 0.03008
NM_000540.3(RYR1):c.10937+39G>A rs2945049 0.03007
NM_000540.3(RYR1):c.7260C>T (p.His2420=) rs12973632 0.03006
NM_002474.3(MYH11):c.792T>C (p.Tyr264=) rs34341838 0.03006
NM_001161352.2(KCNMA1):c.2710-8T>C rs78672251 0.03005
NM_001848.3(COL6A1):c.2435-19C>T rs115181427 0.03003
NM_000540.3(RYR1):c.2871-5C>T rs45585535 0.03001
NM_003386.3(ZAN):c.2318T>C (p.Leu773Pro) rs371312343 0.03000
NM_001458.5(FLNC):c.1614C>T (p.Tyr538=) rs76046880 0.02993
NM_212550.5(BLOC1S3):c.322C>G (p.Leu108Val) rs75792246 0.02993
NM_001297.5(CNGB1):c.2517T>C (p.Ala839=) rs17821412 0.02990
NM_001918.5(DBT):c.1281+31T>G rs115696850 0.02990
NM_000334.4(SCN4A):c.2919C>T (p.Pro973=) rs73992419 0.02985
NM_002693.3(POLG):c.2958C>T (p.Tyr986=) rs2307431 0.02985
NC_000011.10:g.45918090C>T rs2280330 0.02980
NM_139027.6(ADAMTS13):c.3097G>A (p.Ala1033Thr) rs28503257 0.02980
NM_000051.4(ATM):c.6199-61C>G rs17107917 0.02978
NM_001040108.2(MLH3):c.2159A>G (p.Tyr720Cys) rs28756988 0.02978
NM_206933.4(USH2A):c.10836C>A (p.Val3612=) rs61276761 0.02977
NM_032119.4(ADGRV1):c.380T>G (p.Leu127Arg) rs41311333 0.02974
NM_153240.5(NPHP3):c.2571-7T>C rs62292468 0.02974
NM_001009944.3(PKD1):c.8948+17A>G rs9928442 0.02972
NM_004629.2(FANCG):c.890C>T (p.Thr297Ile) rs2237857 0.02972
NM_005573.4(LMNB1):c.432G>A (p.Ser144=) rs34224885 0.02972
NM_130849.4(SLC39A4):c.850G>A (p.Glu284Lys) rs7823979 0.02971
NM_018006.5(TRMU):c.10T>G (p.Leu4Val) rs114302881 0.02970
NC_000008.11:g.64798895G>C rs117576566 0.02967
NM_001235.5(SERPINH1):c.955-6C>A rs7105575 0.02966
NM_198576.4(AGRN):c.261C>T (p.Asp87=) rs6657048 0.02966
NM_001385875.1(ZFYVE27):c.244G>A (p.Val82Ile) rs17108378 0.02962
NM_006610.4(MASP2):c.1316G>A (p.Arg439His) rs12085877 0.02961
NM_014476.6(PDLIM3):c.379G>A (p.Val127Met) rs11944325 0.02959
NM_001206999.2(CIT):c.4935+19C>T rs78839595 0.02958
NM_182914.3(SYNE2):c.9078A>T (p.Glu3026Asp) rs34843668 0.02955
NM_001130987.2(DYSF):c.*199T>G rs13429381 0.02954
NM_001846.4(COL4A2):c.4195G>A (p.Val1399Ile) rs45520539 0.02954
NM_012233.3(RAB3GAP1):c.1992G>A (p.Ser664=) rs7595725 0.02952
NM_000350.3(ABCA4):c.2828G>A (p.Arg943Gln) rs1801581 0.02951
NM_030957.4(ADAMTS10):c.2423T>G (p.Leu808Arg) rs10420313 0.02947
NM_014009.4(FOXP3):c.543C>T (p.Ser181=) rs2232367 0.02946
NM_024596.5(MCPH1):c.1728C>T (p.Gly576=) rs41313954 0.02943
NM_001384732.1(CPLANE1):c.5343A>T (p.Thr1781=) rs73750949 0.02942
NM_014625.4(NPHS2):c.873+7A>G rs115778946 0.02940
NM_001376.5(DYNC1H1):c.7524A>G (p.Leu2508=) rs17541179 0.02937
NM_016341.4(PLCE1):c.1405T>A (p.Ser469Thr) rs17508082 0.02936
NM_182914.3(SYNE2):c.7690A>G (p.Ile2564Val) rs11628107 0.02936
NM_013339.4(ALG6):c.391T>C (p.Tyr131His) rs35383149 0.02935
NM_003126.4(SPTA1):c.2870C>T (p.Ala957Val) rs34706737 0.02931
NM_012213.3(MLYCD):c.31A>G (p.Arg11Gly) rs138107830 0.02930
NM_017755.6(NSUN2):c.1602-19A>G rs13171975 0.02921
NM_001018115.3(FANCD2):c.1367T>G (p.Leu456Arg) rs35782247 0.02918
NM_002661.5(PLCG2):c.2054+7G>A rs138158454 0.02918
NM_014476.6(PDLIM3):c.678G>A (p.Ser226=) rs34943562 0.02917
NM_213599.3(ANO5):c.1898+29G>T rs76084798 0.02917
NM_001205293.3(CACNA1E):c.2992G>A (p.Gly998Ser) rs41304253 0.02916
NM_001267550.2(TTN):c.20861C>T (p.Ala6954Val) rs17355446 0.02915
NM_006979.3(SLC39A7):c.370G>C (p.Gly124Arg) rs35690712 0.02915
NM_007286.6(SYNPO):c.2367A>C (p.Pro789=) rs554668244 0.02915
NM_016219.5(MAN1B1):c.2052C>T (p.Tyr684=) rs118117962 0.02913
NM_000512.4(GALNS):c.-92T>C rs116702472 0.02908
NM_001291867.2(NHS):c.211C>T (p.Pro71Ser) rs398124605 0.02904
NM_003383.5(VLDLR):c.944-5T>C rs35782329 0.02900
NM_025114.4(CEP290):c.297+36A>G rs45468703 0.02898
NM_000196.4(HSD11B2):c.534G>A (p.Glu178=) rs45483293 0.02897
NM_000096.4(CP):c.2554+17G>A rs35593818 0.02896
NM_000335.5(SCN5A):c.100C>T (p.Arg34Cys) rs6791924 0.02895
NM_173630.4(RTTN):c.4940+7G>A rs17082039 0.02895
NM_194248.3(OTOF):c.2022C>T (p.Asp674=) rs13004993 0.02894
NM_030957.4(ADAMTS10):c.185G>A (p.Arg62Gln) rs62621197 0.02893
NM_000379.4(XDH):c.837C>T (p.Val279=) rs4407290 0.02892
NM_012398.3(PIP5K1C):c.15A>G (p.Val5=) rs181777039 0.02892
NM_181523.3(PIK3R1):c.621T>C (p.Ile207=) rs61749601 0.02892
NM_198428.3(BBS9):c.1029A>G (p.Gly343=) rs35195153 0.02890
NM_001999.4(FBN2):c.6637+39A>G rs17608435 0.02889
NM_006005.3(WFS1):c.1805C>T (p.Ala602Val) rs2230720 0.02889
NM_013382.7(POMT2):c.161C>A (p.Ala54Glu) rs8177536 0.02889
NM_004168.4(SDHA):c.113A>T (p.Asp38Val) rs34635677 0.02888
NM_004006.3(DMD):c.8734A>G (p.Asn2912Asp) rs1800278 0.02886
NM_001009944.3(PKD1):c.7642G>C (p.Glu2548Gln) rs28369051 0.02881
NM_153026.3(PRICKLE1):c.585C>T (p.Asp195=) rs74081707 0.02879
NM_004006.3(DMD):c.8729A>T (p.Glu2910Val) rs41305353 0.02876
NM_016239.4(MYO15A):c.7503G>A (p.Thr2501=) rs16960961 0.02872
NM_005921.2(MAP3K1):c.2816C>G (p.Ser939Cys) rs45556841 0.02871
NM_000174.5(GP9):c.*7C>T rs115005114 0.02870
NM_000384.3(APOB):c.5768A>G (p.His1923Arg) rs533617 0.02869
NM_000081.4(LYST):c.7137A>C (p.Leu2379=) rs61738992 0.02868
NM_000277.3(PAH):c.707-7A>T rs62508624 0.02868
NM_000316.3(PTH1R):c.313+32A>G rs113566258 0.02868
NM_000531.6(OTC):c.809A>G (p.Gln270Arg) rs1800328 0.02868
NM_001384732.1(CPLANE1):c.94G>A (p.Val32Ile) rs73750959 0.02866
NM_198525.3(KIF7):c.2043T>A (p.Val681=) rs72750755 0.02861
NM_005476.7(GNE):c.1281+44G>A rs16933102 0.02860
NM_182894.3(VSX2):c.831G>A (p.Leu277=) rs62006815 0.02860
NM_001848.3(COL6A1):c.2781C>T (p.Tyr927=) rs61735853 0.02858
NM_014846.4(WASHC5):c.597A>G (p.Pro199=) rs7812319 0.02858
NM_001367624.2(ZNF469):c.8212G>A (p.Ala2738Thr) rs3812955 0.02856
NM_012144.4(DNAI1):c.1460T>G (p.Val487Gly) rs11999454 0.02853
NM_000260.4(MYO7A):c.6424G>A (p.Asp2142Asn) rs1132036 0.02851
NM_003331.5(TYK2):c.3310C>G (p.Pro1104Ala) rs34536443 0.02850
NM_014000.3(VCL):c.945C>A (p.Gly315=) rs61731180 0.02850
NM_031433.4(MFRP):c.770G>A (p.Arg257His) rs61736238 0.02848
NM_004415.4(DSP):c.423-16_423-15insC rs113028223 0.02847
NM_000091.5(COL4A3):c.805G>A (p.Glu269Lys) rs80109666 0.02845
NM_020987.5(ANK3):c.2124T>C (p.Asp708=) rs34552044 0.02844
NM_006493.4(CLN5):c.1041T>C (p.Pro347=) rs36038805 0.02842
NM_080680.3(COL11A2):c.-200G>A rs144092339 0.02842
NM_000043.6(FAS):c.-34A>G rs5030766 0.02841
NM_000051.4(ATM):c.657T>C (p.Cys219=) rs2235003 0.02841
NM_001277115.2(DNAH11):c.12288G>A (p.Arg4096=) rs72658820 0.02841
NM_015102.5(NPHP4):c.1631C>G (p.Ala544Gly) rs12093500 0.02840
NM_133444.3(ZNF526):c.1662C>T (p.Val554=) rs111722832 0.02840
NM_001130438.3(SPTAN1):c.2872-42G>A rs4307429 0.02839
NM_001165963.4(SCN1A):c.345T>C (p.Asn115=) rs61741123 0.02836
NM_005006.7(NDUFS1):c.975C>T (p.Arg325=) rs2230890 0.02835
NM_004795.4(KL):c.1593C>T (p.Tyr531=) rs62637617 0.02834
NM_198428.3(BBS9):c.1284C>T (p.Thr428=) rs6964382 0.02834
NM_000051.4(ATM):c.3403-15T>A rs79701258 0.02833
NM_001277115.2(DNAH11):c.13547C>T (p.Ala4516Val) rs72658840 0.02832
NM_006785.4(MALT1):c.649A>G (p.Arg217Gly) rs74847855 0.02831
NM_182961.4(SYNE1):c.16277C>T (p.Thr5426Met) rs2306914 0.02831
NM_000053.4(ATP7B):c.3620A>G (p.His1207Arg) rs7334118 0.02828
NM_004994.3(MMP9):c.59C>T (p.Ala20Val) rs1805088 0.02828
NM_002354.3(EPCAM):c.492-5T>C rs78608315 0.02826
NM_006208.3(ENPP1):c.2320C>T (p.Arg774Cys) rs28933977 0.02826
NM_017739.4(POMGNT1):c.880-39G>C rs115804669 0.02824
NM_001377.3(DYNC2H1):c.9353+7G>A rs78309870 0.02821
NM_182961.4(SYNE1):c.12607G>A (p.Glu4203Lys) rs2130262 0.02821
NM_022773.4(LMF1):c.1091G>A (p.Arg364Gln) rs35168378 0.02818
NM_001283009.2(RTEL1):c.978G>A (p.Glu326=) rs41310197 0.02816
NM_000452.3(SLC10A2):c.292G>A (p.Val98Ile) rs55971546 0.02814
NM_020401.4(NUP107):c.*10T>C rs79419059 0.02814
NM_001366686.3(SIK3):c.3268C>T (p.Arg1090Cys) rs61738656 0.02809
NM_201525.4(ADGRG1):c.1460T>C (p.Met487Thr) rs17379472 0.02806
NM_000540.3(RYR1):c.4107C>T (p.Pro1369=) rs11882640 0.02804
NM_001303.4(COX10):c.1038G>A (p.Ser346=) rs2230355 0.02804
NM_004560.4(ROR2):c.1710G>A (p.Pro570=) rs41277837 0.02804
NM_033100.4(CDHR1):c.728C>T (p.Ala243Val) rs7086200 0.02804
NM_001042424.3(NSD2):c.3495C>T (p.Ala1165=) rs73069117 0.02798
NM_001927.4(DES):c.*468G>T rs73085265 0.02797
NM_014625.4(NPHS2):c.686G>A (p.Arg229Gln) rs61747728 0.02796
NM_000489.6(ATRX):c.228G>A (p.Ser76=) rs5959371 0.02794
NM_004287.5(GOSR2):c.*1655A>G rs116123534 0.02794
NM_001458.5(FLNC):c.2390-13C>T rs78086167 0.02793
NM_001122630.2(CDKN1C):c.-11+60G>A rs143992355 0.02792
NM_033100.4(CDHR1):c.486G>C (p.Arg162Ser) rs74145715 0.02792
NC_000023.11:g.136648058A>C rs36206512 0.02791
NM_001083116.3(PRF1):c.272C>T (p.Ala91Val) rs35947132 0.02791
NM_000135.4(FANCA):c.3348+18A>G rs1800347 0.02789
NM_001127701.1(SERPINA1):c.863A>T (p.Glu288Val) rs17580 0.02788
NM_004525.3(LRP2):c.7894A>G (p.Asn2632Asp) rs17848169 0.02788
NM_001080432.3(FTO):c.18T>C (p.Thr6=) rs73609956 0.02787
NM_001458.5(FLNC):c.5669-12C>T rs79790270 0.02786
NM_001267550.2(TTN):c.32393-12A>G rs16866434 0.02785
NM_001735.3(C5):c.1345A>G (p.Arg449Gly) rs2230213 0.02782
NM_001267550.2(TTN):c.36299A>T (p.Glu12100Val) rs73973133 0.02781
NM_023036.6(DNAI2):c.725-27C>T rs72848284 0.02780
NM_018006.4(TRMU):c.-117G>C rs116519615 0.02778
NM_133509.5(RAD51B):c.1094C>G (p.Pro365Arg) rs28908468 0.02778
NM_033004.4(NLRP1):c.1801A>T (p.Ile601Phe) rs73973843 0.02776
NM_014141.6(CNTNAP2):c.*3392C>T rs115420302 0.02775
NM_014141.6(CNTNAP2):c.*3540G>A rs114585910 0.02773
NM_017671.5(FERMT1):c.*193C>T rs16991740 0.02771
NM_001018115.3(FANCD2):c.2124T>C (p.Phe708=) rs9809716 0.02768
NM_016292.3(TRAP1):c.2075G>A (p.Arg692His) rs2791 0.02768
NM_004006.3(DMD):c.6463C>T (p.Arg2155Trp) rs1800273 0.02767
NM_018006.4(TRMU):c.-178G>A rs114587018 0.02766
NM_025009.5(CEP135):c.335G>A (p.Arg112His) rs77591659 0.02766
NM_001370466.1(NOD2):c.2023C>T (p.Arg675Trp) rs2066844 0.02760
NM_006129.5(BMP1):c.1766-5C>T rs76809016 0.02760
NM_000277.1(PAH):c.-147C>T rs62517177 0.02757
NM_001365536.1(SCN9A):c.5756A>G (p.Asp1919Gly) rs3750904 0.02756
NM_001291867.2(NHS):c.3201T>C (p.Ser1067=) rs56908561 0.02754
NM_005026.5(PIK3CD):c.886G>A (p.Val296Ile) rs28730668 0.02751
NM_015599.3(PGM3):c.-2-190T>A rs73749738 0.02750
NM_020975.6(RET):c.1264-5C>T rs9282835 0.02749
NM_001291867.2(NHS):c.3204A>G (p.Leu1068=) rs56691712 0.02748
NM_001164508.2(NEB):c.4407G>C (p.Glu1469Asp) rs34800215 0.02746
NM_000514.4(GDNF):c.429G>A (p.Arg143=) rs36010631 0.02743
NM_001042631.3(SDHAF1):c.*156G>T rs115204084 0.02741
NM_002234.4(KCNA5):c.381C>T (p.Ser127=) rs45504599 0.02738
NM_002474.3(MYH11):c.*5C>G rs1875184 0.02738
NM_015272.5(RPGRIP1L):c.2231G>A (p.Arg744Gln) rs2302677 0.02738
NM_018417.6(ADCY10):c.4058C>T (p.Pro1353Leu) rs72697797 0.02736
NM_004369.4(COL6A3):c.1976G>A (p.Arg659His) rs36092870 0.02734
NM_020223.4(FAM20C):c.1218T>A (p.Pro406=) rs144007479 0.02734
NM_000036.3(AMPD1):c.860A>T (p.Lys287Ile) rs34526199 0.02732
NM_000290.4(PGAM2):c.341T>G (p.Ile114Ser) rs61756062 0.02732
NM_000384.3(APOB):c.10737C>T (p.Thr3579=) rs12713554 0.02731
NM_001128178.3(NPHP1):c.115C>A (p.Pro39Thr) rs33958626 0.02731
NM_004826.4(ECEL1):c.1797-10G>A rs76290356 0.02730
NM_000562.3(C8A):c.1372G>A (p.Asp458Asn) rs17114555 0.02729
NM_130849.4(SLC39A4):c.251C>T (p.Pro84Leu) rs117535951 0.02729
NC_000013.11:g.40789460C>G rs541415883 0.02727
NM_194248.3(OTOF):c.1926C>T (p.Asn642=) rs72853741 0.02727
NM_000352.6(ABCC8):c.2277C>T (p.Thr759=) rs1801261 0.02724
NM_007078.3(LDB3):c.1074C>T (p.Ala358=) rs45459491 0.02721
NM_001385875.1(ZFYVE27):c.572G>T (p.Gly191Val) rs35077384 0.02717
NM_002661.5(PLCG2):c.731A>G (p.His244Arg) rs11548656 0.02717
NM_004993.6(ATXN3):c.883A>C (p.Lys295Gln) rs12896588 0.02716
NM_000088.4(COL1A1):c.3223G>A (p.Ala1075Thr) rs1800215 0.02714
NM_001042702.5(PJVK):c.874G>A (p.Gly292Arg) rs79399438 0.02714
NM_005138.3(SCO2):c.327C>T (p.His109=) rs75485962 0.02713
NM_001368894.2(PAX6):c.-129+9G>A rs56139994 0.02711
NM_006765.4(TUSC3):c.912G>A (p.Ser304=) rs17121892 0.02710
NM_001848.3(COL6A1):c.1823-31C>T rs117330552 0.02707
NM_002693.3(POLG):c.3428A>G (p.Glu1143Gly) rs2307441 0.02704
NM_000092.5(COL4A4):c.2165-15T>G rs60344965 0.02703
NM_003070.5(SMARCA2):c.717G>A (p.Pro239=) rs10964525 0.02703
NM_006883.2(SHOX):c.-512C>A rs113313554 0.02703
NM_002294.3(LAMP2):c.927C>T (p.Ser309=) rs73219144 0.02702
NM_004820.5(CYP7B1):c.971G>A (p.Arg324His) rs59035258 0.02701
NM_182925.5(FLT4):c.58+28C>G rs147801168 0.02700
NM_020549.5(CHAT):c.141C>G (p.Asp47Glu) rs3810948 0.02698
NM_005787.6(ALG3):c.727-50T>C rs2233465 0.02697
NM_001989.5(EVX1):c.870A>C (p.Ala290=) rs114407231 0.02696
NM_004183.4(BEST1):c.1023C>T (p.Pro341=) rs1801390 0.02696
NM_182961.4(SYNE1):c.12138G>A (p.Gln4046=) rs60344647 0.02693
NM_021252.5(RAB18):c.592G>A (p.Ala198Thr) rs11015859 0.02692
NM_001114134.2(EPB42):c.10+19C>T rs77809780 0.02691
NM_000350.3(ABCA4):c.3602T>G (p.Leu1201Arg) rs61750126 0.02687
NM_000466.3(PEX1):c.2584-20T>A rs111535201 0.02687
NM_016013.4(NDUFAF1):c.526G>A (p.Glu176Lys) rs35227875 0.02686
NM_001849.4(COL6A2):c.679G>A (p.Asp227Asn) rs35881321 0.02685
NM_178452.6(DNAAF1):c.1303G>A (p.Asp435Asn) rs149158199 0.02685
NM_001367721.1(CASK):c.1234-22G>A rs5963260 0.02684
NM_001367721.1(CASK):c.1234-30G>A rs5964019 0.02683
NM_000106.6(CYP2D6):c.1012G>A (p.Val338Met) rs59421388 0.02682
NM_133372.3(FNIP1):c.2212G>T (p.Val738Leu) rs12109782 0.02681
NM_004369.4(COL6A3):c.9123G>A (p.Thr3041=) rs61729843 0.02678
NM_020822.3(KCNT1):c.978A>G (p.Pro326=) rs61739517 0.02678
NM_001927.4(DES):c.669T>C (p.Ile223=) rs75882680 0.02676
NM_173560.4(RFX6):c.50C>A (p.Ala17Glu) rs9489056 0.02675
NM_000384.3(APOB):c.2188G>A (p.Val730Ile) rs12691202 0.02673
NM_005257.6(GATA6):c.851C>G (p.Ala284Gly) rs185325359 0.02672
NM_170606.3(KMT2C):c.7443-6T>A rs73728767 0.02671
NM_002633.3(PGM1):c.*37G>A rs61765314 0.02669
NM_003240.5(LEFTY2):c.857C>T (p.Pro286Leu) rs2295418 0.02669
NM_006459.4(ERLIN1):c.*213A>G rs3802528 0.02669
NM_206926.2(SELENON):c.879C>T (p.Arg293=) rs147587542 0.02669
NM_004369.4(COL6A3):c.882C>T (p.Phe294=) rs7561625 0.02665
NM_014363.6(SACS):c.1839G>A (p.Gln613=) rs35840595 0.02663
NM_004409.5(DMPK):c.456G>A (p.Val152=) rs34798952 0.02662
NM_014049.5(ACAD9):c.976G>A (p.Ala326Thr) rs115532916 0.02662
NM_000367.5(TPMT):c.460G>A (p.Ala154Thr) rs1800460 0.02661
NM_000834.5(GRIN2B):c.870C>T (p.Pro290=) rs1124894 0.02647
NM_001001557.4(GDF6):c.936G>C (p.Ser312=) rs148861809 0.02643
NM_000176.3(NR3C1):c.879G>A (p.Lys293=) rs10482622 0.02642
NM_006979.3(SLC39A7):c.259G>A (p.Asp87Asn) rs34211188 0.02642
NM_015065.3(EXPH5):c.280+10A>C rs12804124 0.02642
NM_003235.5(TG):c.5186A>C (p.Asp1729Ala) rs61744749 0.02641
NM_018451.5(CPAP):c.163C>G (p.Pro55Ala) rs17081389 0.02639
NM_001082538.3(TCTN1):c.473-10T>A rs12307716 0.02637
NM_006030.4(CACNA2D2):c.160C>T (p.Leu54Phe) rs569543350 0.02637
NM_000080.4(CHRNE):c.53G>T (p.Gly18Val) rs4790235 0.02635
NM_000067.3(CA2):c.754A>G (p.Asn252Asp) rs2228063 0.02634
NM_000326.5(RLBP1):c.*242A>C rs8025719 0.02630
NM_005199.5(CHRNG):c.445G>A (p.Ala149Thr) rs2289080 0.02629
NM_017636.4(TRPM4):c.2934T>C (p.Ile978=) rs35516880 0.02629
NM_025265.4(TSEN2):c.909+34G>A rs78943415 0.02628
NM_001288705.3(CSF1R):c.733G>T (p.Ala245Ser) rs41338945 0.02627
NM_002633.3(PGM1):c.1280+7C>T rs72922610 0.02627
NM_022773.4(LMF1):c.837C>A (p.Phe279Leu) rs61745065 0.02625
NM_002633.3(PGM1):c.399T>C (p.Ile133=) rs1126727 0.02624
NM_004369.4(COL6A3):c.1313-17A>G rs7579816 0.02624
NM_000302.4(PLOD1):c.250G>A (p.Ala84Thr) rs34878020 0.02621
NM_000760.4(CSF3R):c.692T>C (p.Met231Thr) rs3917973 0.02621
NM_000791.4(DHFR):c.-400A>G rs2405875 0.02618
NM_001044385.3(TMEM237):c.9T>G (p.Thr3=) rs6736435 0.02618
NM_004415.4(DSP):c.913A>T (p.Ile305Phe) rs17604693 0.02618
NM_000093.5(COL5A1):c.4230+6G>A rs77176843 0.02617
NM_004004.6(GJB2):c.79G>A (p.Val27Ile) rs2274084 0.02617
NM_000360.4(TH):c.1401C>T (p.Asp467=) rs3842724 0.02616
NM_001083116.3(PRF1):c.11G>A (p.Arg4His) rs35418374 0.02616
NM_000618.5(IGF1):c.*263T>A rs70961704 0.02615
NM_002661.5(PLCG2):c.770A>T (p.His257Leu) rs45443101 0.02615
NM_001130987.2(DYSF):c.3119G>A (p.Arg1040Gln) rs34211915 0.02614
NM_001256545.2(MEGF10):c.2199C>T (p.Cys733=) rs35591368 0.02614
NM_001363711.2(DUOX2):c.3966C>T (p.Ser1322=) rs61730032 0.02613
NM_016069.11(PAM16):c.88+12T>C rs72766573 0.02613
NM_006433.5(GNLY):c.11G>A (p.Trp4Ter) rs10181739 0.02612
NM_000760.4(CSF3R):c.1037A>G (p.Gln346Arg) rs3917974 0.02609
NM_001206979.2(NR1H4):c.-1G>T rs56163822 0.02608
NM_001267550.2(TTN):c.8116+19G>A rs13011633 0.02607
NM_133642.5(LARGE1):c.1548C>T (p.Tyr516=) rs34292743 0.02604
NM_000455.5(STK11):c.816C>T (p.Tyr272=) rs9282859 0.02603
NM_000092.5(COL4A4):c.948T>C (p.Tyr316=) rs34509421 0.02602
NM_000053.4(ATP7B):c.3045G>A (p.Leu1015=) rs1801248 0.02598
NM_001927.4(DES):c.408C>T (p.Leu136=) rs111828114 0.02597
NM_002609.4(PDGFRB):c.1391C>T (p.Thr464Met) rs74943037 0.02595
NM_213599.3(ANO5):c.2521-13A>G rs76850415 0.02594
NM_001283009.2(RTEL1):c.2785G>A (p.Ala929Thr) rs61736615 0.02592
NM_000702.4(ATP1A2):c.2961C>T (p.Cys987=) rs74123254 0.02590
NM_001001548.3(CD36):c.1125+13C>A rs3211942 0.02583
NM_001039876.3(SYNE4):c.523G>C (p.Ala175Pro) rs77925409 0.02583
NM_001372044.2(SHANK3):c.2386G>A (p.Ala796Thr) rs61729471 0.02583
NM_017950.4(CCDC40):c.2832+315G>A rs567724903 0.02582
NM_022455.5(NSD1):c.3106G>C (p.Ala1036Pro) rs28932179 0.02582
NM_004525.3(LRP2):c.428-9T>A rs1162568534 0.02580
NM_000091.5(COL4A3):c.4041C>A (p.Asp1347Glu) rs73996414 0.02579
NM_001082538.3(TCTN1):c.341+46G>T rs80078413 0.02579
NM_020297.4(ABCC9):c.2424+9T>C rs11835804 0.02576
NM_001349253.2(SCN11A):c.1442G>A (p.Gly481Glu) rs13059805 0.02575
NM_001904.4(CTNNB1):c.1516C>T (p.Leu506=) rs3856748 0.02575
NM_000350.3(ABCA4):c.6732G>A (p.Val2244=) rs77293072 0.02574
NM_002334.4(LRP4):c.4837+10C>T rs74806847 0.02574
NM_003401.5(XRCC4):c.401T>C (p.Ile134Thr) rs28360135 0.02574
NM_002024.6(FMR1):c.433G>T (p.Ala145Ser) rs29281 0.02573
NM_016038.4(SBDS):c.635T>C (p.Ile212Thr) rs79344818 0.02573
NM_053054.4(CATSPER1):c.1467C>T (p.Cys489=) rs75366838 0.02573
NM_000428.3(LTBP2):c.2715C>T (p.Arg905=) rs7145480 0.02571
NM_001384474.1(LOXHD1):c.4531-19C>T rs117403100 0.02571
NM_001127178.3(PIGG):c.990T>C (p.Ser330=) rs11726338 0.02569
NM_004006.3(DMD):c.2623-11C>G rs1028360 0.02567
NM_152783.5(D2HGDH):c.1395G>A (p.Thr465=) rs111670322 0.02567
NM_021625.5(TRPV4):c.2459-9T>G rs115373018 0.02566
NM_000230.3(LEP):c.280G>A (p.Val94Met) rs17151919 0.02565
NM_001374736.1(DST):c.23058G>A (p.Val7686=) rs144012429 0.02565
NM_003465.3(CHIT1):c.1060G>A (p.Gly354Arg) rs9943208 0.02564
NM_001807.6(CEL):c.1454T>C (p.Ile485Thr) rs77696629 0.02562
NM_013296.5(GPSM2):c.828A>G (p.Lys276=) rs338489 0.02561
NM_001374736.1(DST):c.14441-7del rs201921834 0.02559
NM_000384.3(APOB):c.13441G>A (p.Ala4481Thr) rs1801695 0.02558
NM_213599.3(ANO5):c.*554C>T rs117180492 0.02555
NM_000466.3(PEX1):c.2088A>G (p.Ile696Met) rs35996821 0.02553
NM_024334.3(TMEM43):c.163-14C>T rs113745859 0.02553
NM_002857.4(PEX19):c.433-11G>T rs41265791 0.02551
NM_018249.6(CDK5RAP2):c.5418C>T (p.Pro1806=) rs3739822 0.02551
NM_030957.4(ADAMTS10):c.1588-7C>G rs11882422 0.02550
NM_021076.4(NEFH):c.2015C>A (p.Ala672Glu) rs1331832385 0.02549
NM_001110556.2(FLNA):c.7224C>T (p.Gly2408=) rs12008807 0.02548
NM_020223.4(FAM20C):c.1652G>A (p.Arg551His) rs150231592 0.02546
NM_000435.3(NOTCH3):c.1140T>C (p.Pro380=) rs61749020 0.02545
NM_017636.4(TRPM4):c.449-10G>A rs78444754 0.02545
NM_000051.4(ATM):c.1254A>G (p.Gln418=) rs4987943 0.02542
NM_015065.3(EXPH5):c.983G>A (p.Arg328Gln) rs11212684 0.02539
NM_000155.4(GALT):c.652C>T (p.Leu218=) rs2070075 0.02537
NM_003719.5(PDE8B):c.1366-5G>A rs79008179 0.02537
NM_000466.3(PEX1):c.3439-14_3439-13del rs150005994 0.02536
NM_052854.4(CREB3L1):c.1547T>G (p.Ile516Ser) rs73464035 0.02536
NM_001348946.2(ABCB1):c.1199G>A (p.Ser400Asn) rs2229109 0.02535
NM_000093.5(COL5A1):c.2724G>A (p.Pro908=) rs41310207 0.02534
NM_000123.4(ERCC5):c.767A>G (p.Gln256Arg) rs4150313 0.02531
NM_000092.5(COL4A4):c.2276C>T (p.Pro759Leu) rs36121515 0.02529
NM_000420.3(KEL):c.1790T>C (p.Leu597Pro) rs8176038 0.02529
NM_024675.4(PALB2):c.3300T>G (p.Thr1100=) rs45516100 0.02529
NM_001323289.2(CDKL5):c.555-19C>G rs75057928 0.02527
NM_000135.4(FANCA):c.3859G>A (p.Val1287Ile) rs17227354 0.02526
NM_000975.5(RPL11):c.339C>T (p.Ile113=) rs8880 0.02525
NM_007272.3(CTRC):c.285C>T (p.Asp95=) rs41307798 0.02525
NM_000428.3(LTBP2):c.3093C>T (p.Ser1031=) rs45473602 0.02522
NM_015158.5(KANK1):c.3554-4dup rs1554721658 0.02521
NM_001080.3(ALDH5A1):c.545C>T (p.Pro182Leu) rs3765310 0.02518
NM_006302.3(MOGS):c.2032C>T (p.Arg678Trp) rs13405869 0.02517
NM_207352.4(CYP4V2):c.638G>A (p.Ser213Asn) rs34331648 0.02516
NM_000123.4(ERCC5):c.760A>G (p.Met254Val) rs1047769 0.02515
NM_000355.4(TCN2):c.1023G>A (p.Pro341=) rs76802001 0.02514
NM_001386125.1(OBSCN):c.2894G>A (p.Arg965Lys) rs61560753 0.02514
NM_003482.4(KMT2D):c.15978T>G (p.Leu5326=) rs55776396 0.02513
NM_000435.3(NOTCH3):c.6221C>T (p.Pro2074Leu) rs114447350 0.02512
NM_024496.4(IRF2BPL):c.336_346del (p.Gln113fs) rs776735350 0.02512
NM_182961.4(SYNE1):c.26002-4A>G rs77220999 0.02512
NM_001232.4(CASQ2):c.731A>G (p.His244Arg) rs28730716 0.02511
NM_018122.5(DARS2):c.1013G>A (p.Gly338Glu) rs141298312 0.02511
NM_001844.4(COL2A1):c.-187G>A rs41317877 0.02510
NM_001374736.1(DST):c.4452T>C (p.Asn1484=) rs112640831 0.02508
NM_004068.4(AP2M1):c.1293T>C (p.Tyr431=) rs13262 0.02508
NM_000310.4(PPT1):c.837G>C (p.Gln279His) rs72937434 0.02506
NM_006790.3(MYOT):c.149A>G (p.Gln50Arg) rs34717730 0.02506
NM_001367624.2(ZNF469):c.4434C>T (p.Ser1478=) rs74032865 0.02504
NM_014141.6(CNTNAP2):c.3476-15C>A rs77706740 0.02504
NM_004525.3(LRP2):c.12151+4T>C rs17848192 0.02503
NM_001692.4(ATP6V1B1):c.481G>A (p.Glu161Lys) rs114234874 0.02502
NM_001723.7(DST):c.7765A>G (p.Ile2589Val) rs150191284 0.02502
NM_001171.6(ABCC6):c.2224A>G (p.Ile742Val) rs59593133 0.02501
NM_020366.4(RPGRIP1):c.3341A>G (p.Asp1114Gly) rs17103671 0.02500
NM_001846.4(COL4A2):c.315+19T>C rs74967960 0.02499
NM_000219.6(KCNE1):c.-253A>G rs41315471 0.02496
NM_152783.5(D2HGDH):c.292+9G>A rs148813816 0.02496
NM_001130987.2(DYSF):c.2856G>A (p.Pro952=) rs34836829 0.02494
NM_000215.4(JAK3):c.394C>A (p.Pro132Thr) rs3212723 0.02493
NM_000535.7(PMS2):c.1532C>T (p.Thr511Met) rs74902811 0.02492
NM_000214.3(JAG1):c.270G>T (p.Gly90=) rs114048678 0.02490
NM_000093.5(COL5A1):c.4393-9C>T rs11792181 0.02489
NM_001374504.1(TMPRSS6):c.-1-107C>T rs115270691 0.02489
NM_000051.4(ATM):c.8786+8A>C rs4986839 0.02488
NM_182895.5(SCARF2):c.1967C>T (p.Pro656Leu) rs9680797 0.02487
NM_012301.4(MAGI2):c.3915G>A (p.Gln1305=) rs117054456 0.02486
NM_012309.5(SHANK2):c.520C>T (p.Arg174Cys) rs7926203 0.02486
NM_015168.2(ZC3H4):c.1902C>G (p.Pro634=) rs76187449 0.02486
NM_000260.4(MYO7A):c.6240C>T (p.Ser2080=) rs41298757 0.02484
NM_001136271.3(NKX2-6):c.386C>A (p.Ala129Glu) rs143039156 0.02484
NM_006493.4(CLN5):c.87C>G (p.Ala29=) rs138037471 0.02484
NM_201384.3(PLEC):c.5229G>A (p.Ala1743=) rs140406501 0.02484
NM_003235.5(TG):c.5122A>G (p.Ile1708Val) rs61744679 0.02483
NM_024408.4(NOTCH2):c.6421C>T (p.Leu2141=) rs3795666 0.02483
NM_004525.3(LRP2):c.2006G>A (p.Gly669Asp) rs34291900 0.02482
NM_144585.4(SLC22A12):c.-234C>T rs72922827 0.02482
NM_014249.4(NR2E3):c.488T>C (p.Met163Thr) rs1805021 0.02481
NM_015080.4(NRXN2):c.246G>A (p.Leu82=) rs12293481 0.02481
NM_182961.4(SYNE1):c.22452A>G (p.Ser7484=) rs36044575 0.02480
NM_001018115.3(FANCD2):c.64+12G>C rs9833228 0.02477
NM_000213.5(ITGB4):c.3976+15G>C rs2603499 0.02476
NM_003922.4(HERC1):c.4293T>C (p.Leu1431=) rs61749474 0.02475
NM_004562.3(PRKN):c.*94A>G rs62637702 0.02475
NM_019892.6(INPP5E):c.33C>G (p.Ser11=) rs79161998 0.02475
NM_001142800.2(EYS):c.5977A>G (p.Thr1993Ala) rs115066356 0.02473
NM_000214.3(JAG1):c.924C>T (p.Asn308=) rs45575136 0.02472
NM_006351.4(TIMM44):c.753C>G (p.Asn251Lys) rs118048213 0.02472
NM_014363.6(SACS):c.2080G>A (p.Ala694Thr) rs17325713 0.02472
NM_020877.5(DNAH2):c.12974C>G (p.Pro4325Arg) rs116930996 0.02472
NM_198506.5(LRIT3):c.505C>A (p.Pro169Thr) rs61745483 0.02471
NM_000257.4(MYH7):c.895+17G>A rs45580436 0.02470
NM_175914.5(HNF4A):c.350C>T (p.Thr117Ile) rs1800961 0.02469
NM_014244.5(ADAMTS2):c.2480G>A (p.Arg827Gln) rs35445112 0.02465
NM_018075.5(ANO10):c.*246A>G rs73831273 0.02464
NM_001018115.3(FANCD2):c.1868A>C (p.Gln623Pro) rs36070315 0.02463
NM_001130438.3(SPTAN1):c.1221+11C>T rs113357847 0.02463
NM_006208.3(ENPP1):c.-10C>T rs750410843 0.02463
NM_001127198.5(TMC6):c.2021+11C>T rs143140501 0.02462
NM_000104.4(CYP1B1):c.-1-14C>T rs4987134 0.02460
NM_001366110.1(PAX4):c.421C>T (p.Arg141Trp) rs2233578 0.02460
NM_005045.4(RELN):c.5831T>G (p.Phe1944Cys) rs77664442 0.02460
NM_170784.3(MKKS):c.*46G>T rs74703166 0.02454
NM_000260.4(MYO7A):c.5326+13C>T rs114157944 0.02453
NM_003105.6(SORL1):c.237G>A (p.Arg79=) rs114331262 0.02453
NM_004993.6(ATXN3):c.882A>G (p.Gln294=) rs12896589 0.02453
NM_014251.3(SLC25A13):c.1884C>T (p.Asn628=) rs35539807 0.02453