ClinVar Miner

Submissions for variant NM_001136.5(AGER):c.964+208A>G

gnomAD frequency: 0.14137  dbSNP: rs3134940
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
HLA Laboratory, Instituto Nacional de Enfermedades Respiratorias Ismael Cosio Villegas RCV003993687 SCV004041890 likely risk allele COPD, severe early onset 2023-08-10 no assertion criteria provided research Differences in plasma levels of sRAGE according to genotypes

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