Source: CURATED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs3032358
rs3032358
AR
0.700 SusceptibilityMutation CLINVAR Thirty-seven CAG repeats in the androgen receptor gene in two healthy individuals. 11266016

2001
dbSNP: rs137852564
rs137852564
AR
A 0.700 CausalMutation CLINVAR

dbSNP: rs137852565
rs137852565
AR
A 0.700 CausalMutation CLINVAR Characteristic features of reproductive hormone profiles in late adolescent and adult females with complete androgen insensitivity syndrome. 25613104

2015
dbSNP: rs137852565
rs137852565
AR
A 0.700 CausalMutation CLINVAR A single nucleotide substitution introduces a premature termination codon into the androgen receptor gene of a patient with receptor-negative androgen resistance. 2332504

1990
dbSNP: rs137852569
rs137852569
AR
A 0.700 CausalMutation CLINVAR Androgen insensitivity syndrome in a cohort of Sri Lankan children with 46, XY disorders of sex development (46, XY DSD). 26778393

2015
dbSNP: rs137852569
rs137852569
AR
A 0.700 CausalMutation CLINVAR Point mutation in the DNA binding domain of the androgen receptor in two families with Reifenstein syndrome. 1598912

1992
dbSNP: rs137852569
rs137852569
AR
A 0.700 CausalMutation CLINVAR Clinical and molecular characteristics in 15 patients with androgen receptor gene mutations from South China. 28261839

2017
dbSNP: rs137852573
rs137852573
AR
A 0.700 CausalMutation CLINVAR The clinical and molecular spectrum of androgen insensitivity syndromes. 8723113

1996
dbSNP: rs137852573
rs137852573
AR
A 0.700 CausalMutation CLINVAR Postnatal changes of T, LH, and FSH in 46,XY infants with mutations in the AR gene. 11788616

2002
dbSNP: rs137852573
rs137852573
AR
A 0.700 CausalMutation CLINVAR Male infertility and androgen receptor gene mutations: clinical features and identification of seven novel mutations. 17054461

2006
dbSNP: rs137852573
rs137852573
AR
A 0.700 CausalMutation CLINVAR Clinical and biochemical investigations and molecular analysis of subjects with mutations in the androgen receptor gene. 9039340

1996
dbSNP: rs1386577803
rs1386577803
AR
A 0.700 CausalMutation CLINVAR Novel (60%) and recurrent (40%) androgen receptor gene mutations in a series of 59 patients with a 46,XY disorder of sex development. 20150575

2010
dbSNP: rs1386577803
rs1386577803
AR
A 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
dbSNP: rs1386577803
rs1386577803
AR
A 0.700 CausalMutation CLINVAR Functional characterization of naturally occurring mutant androgen receptors from subjects with complete androgen insensitivity. 2082179

1990
dbSNP: rs1386577803
rs1386577803
AR
A 0.700 CausalMutation CLINVAR Androgen receptor gene mutation identified by PCR-SSCP and sequencing in 4 patients with complete androgen insensitivity syndrome. 10834333

2000
dbSNP: rs1555990470
rs1555990470
AR
A 0.700 GeneticVariation CLINVAR C601S mutation in the androgen receptor results in partial loss of androgen function. 20493947

2010
dbSNP: rs1555990470
rs1555990470
AR
A 0.700 GeneticVariation CLINVAR Two mutations causing complete androgen insensitivity: a frame-shift in the steroid binding domain and a Cys-->Phe substitution in the second zinc finger of the androgen receptor. 7981689

1994
dbSNP: rs1555995822
rs1555995822
AR
A 0.700 GeneticVariation CLINVAR Update of the androgen receptor gene mutations database. 10425033

1999
dbSNP: rs1555996863
rs1555996863
AR
A 0.700 CausalMutation CLINVAR Wide variation in androgen receptor dysfunction in complete androgen insensitivity syndrome. 9328206

1997
dbSNP: rs1555996863
rs1555996863
AR
A 0.700 CausalMutation CLINVAR Functional characterisation of mutations in the ligand-binding domain of the androgen receptor gene in patients with androgen insensitivity syndrome. 9856504

1998
dbSNP: rs1555996863
rs1555996863
AR
A 0.700 CausalMutation CLINVAR Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort. 27899157

2016
dbSNP: rs1555996863
rs1555996863
AR
A 0.700 CausalMutation CLINVAR Characteristic features of reproductive hormone profiles in late adolescent and adult females with complete androgen insensitivity syndrome. 25613104

2015
dbSNP: rs1555996863
rs1555996863
AR
A 0.700 CausalMutation CLINVAR Androgen receptor gene mutations identified by SSCP in fourteen subjects with androgen insensitivity syndrome. 1307250

1992
dbSNP: rs1555996863
rs1555996863
AR
A 0.700 CausalMutation CLINVAR Phenotypic features, androgen receptor binding, and mutational analysis in 278 clinical cases reported as androgen insensitivity syndrome. 10690872

2000
dbSNP: rs1555996863
rs1555996863
AR
A 0.700 CausalMutation CLINVAR Novel and recurrent mutations in patients with androgen insensitivity syndromes. 15925895

2005