Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434338
rs121434338
CHD7
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		G 0.800 CausalMutation CLINVAR Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency. 25472840

2014
dbSNP: rs121434338
rs121434338
CHD7
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		G 0.800 CausalMutation CLINVAR Anosmia predicts hypogonadotropic hypogonadism in CHARGE syndrome. 20884005

2011
dbSNP: rs121434338
rs121434338
CHD7
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		G 0.800 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: rs121434338
rs121434338
CHD7
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		G 0.800 CausalMutation CLINVAR CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene. 16155193

2006
dbSNP: rs121434338
rs121434338
CHD7
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		G 0.800 CausalMutation CLINVAR Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. 15300250

2004