Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1563674316
rs1563674316
CHD7
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		G 0.700 CausalMutation CLINVAR CHD7 mutations in patients initially diagnosed with Kallmann syndrome--the clinical overlap with CHARGE syndrome. 19021638

2009