Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1563560493
rs1563560493
CHD7
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		G 0.700 CausalMutation CLINVAR Mutation update on the CHD7 gene involved in CHARGE syndrome. 22461308

2012