AR, androgen receptor, 367

N. diseases: 854; N. variants: 163
Disease: Bulbo-Spinal Atrophy, X-Linked ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs886039558
rs886039558
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C1839259
Disease:
Bulbo-Spinal Atrophy, X-Linked 		T 0.700 CausalMutation CLINVAR Novel and recurrent mutations in patients with androgen insensitivity syndromes. 15925895 2005
dbSNP: rs886039558
rs886039558
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C1839259
Disease:
Bulbo-Spinal Atrophy, X-Linked 		T 0.700 CausalMutation CLINVAR Clinical, hormonal, behavioral, and genetic characteristics of androgen insensitivity syndrome in a Brazilian cohort: five novel mutations in the androgen receptor gene. 12843171 2003
dbSNP: rs886039558
rs886039558
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C1839259
Disease:
Bulbo-Spinal Atrophy, X-Linked 		T 0.700 CausalMutation CLINVAR Point mutations in the steroid-binding domain of the androgen receptor gene of five Japanese patients with androgen insensitivity syndrome. 10458483 1999