Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587783454
rs587783454
CHD7
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		T 0.700 CausalMutation CLINVAR CHD7 mutations causing CHARGE syndrome are predominantly of paternal origin. 21554267

2012
dbSNP: rs587783454
rs587783454
CHD7
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		T 0.700 CausalMutation CLINVAR Mutations in the CHD7 gene: the experience of a commercial laboratory. 21158681

2010
dbSNP: rs587783454
rs587783454
CHD7
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		T 0.700 CausalMutation CLINVAR Molecular analysis of the CHD7 gene in CHARGE syndrome: identification of 22 novel mutations and evidence for a low contribution of large CHD7 deletions. 18073582

2007
dbSNP: rs587783454
rs587783454
CHD7
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		T 0.700 CausalMutation CLINVAR CHD7 gene and non-syndromic cleft lip and palate. 16763960

2006