Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs886040991
rs886040991
CHD7
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		T 0.700 CausalMutation CLINVAR Complete screening of 50 patients with CHARGE syndrome for anomalies in the CHD7 gene using a denaturing high-performance liquid chromatography-based protocol: new guidelines and a proposal for routine diagnosis. 22033296

2012
dbSNP: rs886040991
rs886040991
CHD7
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		T 0.700 CausalMutation CLINVAR Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation. 16400610

2006