Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs3735819
rs3735819
CUI: C0152021
Disease: Congenital heart disease
Congenital heart disease
C 0.700 CausalMutation CLINVAR Congenital heart diseases and their association with the variant distribution features on susceptibility genes. 27426723

2017