AR, androgen receptor, 367

N. diseases: 854; N. variants: 163
Disease: Reifenstein Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs9332969
rs9332969
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C0268301
Disease:
Reifenstein Syndrome 		0.710 GeneticVariation BEFREE Three mutations in this residue (R840C, R840G nonconservative and R840H, conservative) were previously reported in patients with partial androgen insensitivity syndrome and when expressed "in vitro" lead to a subnormal transactivation of a reporter gene. 10502786 1999
dbSNP: rs9332969
rs9332969
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C0268301
Disease:
Reifenstein Syndrome 		A 0.710 CausalMutation CLINVAR