Source: CURATED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs112374098
rs112374098
AR
T 0.700 CausalMutation CLINVAR

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: rs137852577
rs137852577
AR
T 0.700 CausalMutation CLINVAR Trafficking of androgen receptor mutants fused to green fluorescent protein: a new investigation of partial androgen insensitivity syndrome. 9768671

1998
dbSNP: rs137852577
rs137852577
AR
T 0.700 CausalMutation CLINVAR Novel and recurrent mutations in patients with androgen insensitivity syndromes. 15925895

2005
dbSNP: rs137852577
rs137852577
AR
T 0.700 CausalMutation CLINVAR Mutations in the ligand-binding domain of the androgen receptor gene cluster in two regions of the gene. 1430233

1992
dbSNP: rs137852577
rs137852577
AR
T 0.700 CausalMutation CLINVAR Substitution of arginine-839 by cysteine or histidine in the androgen receptor causes different receptor phenotypes in cultured cells and coordinate degrees of clinical androgen resistance. 8040309

1994
dbSNP: rs137852577
rs137852577
AR
T 0.700 CausalMutation CLINVAR Functional analysis of six androgen receptor mutations identified in patients with partial androgen insensitivity syndrome. 8824883

1996
dbSNP: rs137852577
rs137852577
AR
T 0.700 CausalMutation CLINVAR Androgen receptor mutations associated with androgen insensitivity syndrome: a high content analysis approach leading to personalized medicine. 20011049

2009
dbSNP: rs137852577
rs137852577
AR
T 0.700 CausalMutation CLINVAR Male fertility is compatible with an Arg(840)Cys substitution in the AR in a large Chinese family affected with divergent phenotypes of AR insensitivity syndrome. 11788673

2002
dbSNP: rs137852577
rs137852577
AR
T 0.700 CausalMutation CLINVAR Dissecting phenotypic variation among AIS patients. 16083860

2005
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: rs143040492
rs143040492
AR
T 0.700 CausalMutation CLINVAR The clinical and molecular spectrum of androgen insensitivity syndromes. 8723113

1996
dbSNP: rs1555969553
rs1555969553
AR
T 0.700 CausalMutation CLINVAR