Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs766862122
rs766862122
CHD7
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		T 0.700 CausalMutation CLINVAR Antenatal spectrum of CHARGE syndrome in 40 fetuses with CHD7 mutations. 23024289

2012