Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554606274
rs1554606274
CHD7
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		T 0.700 GeneticVariation CLINVAR The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients. 25077900

2014
dbSNP: rs1554606274
rs1554606274
CHD7
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		T 0.700 GeneticVariation CLINVAR Mutation update on the CHD7 gene involved in CHARGE syndrome. 22461308

2012