Gene: AR ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs9332969
rs9332969
AR
A 0.820 CausalMutation CLINVAR AR mutations in 28 patients with androgen insensitivity syndrome (Prader grade 0-3). 28624954

2017
dbSNP: rs9332969
rs9332969
AR
A 0.820 CausalMutation CLINVAR [Analysis of AR gene mutation in a family affected with complete androgen insensitivity syndrome using long chain RT-PCR]. 28186600

2017
dbSNP: rs9332969
rs9332969
AR
A 0.820 CausalMutation CLINVAR Whole exome sequencing and single nucleotide polymorphism array analyses to identify germline alterations in genes associated with testosterone metabolism in a patient with androgen insensitivity syndrome and early-onset colorectal cancer. 27267075

2016
dbSNP: rs9332969
rs9332969
AR
A 0.820 CausalMutation CLINVAR Mutation analysis of androgen receptor gene: multiple uses for a single test. 25241384

2014
dbSNP: rs9332969
rs9332969
AR
A 0.820 CausalMutation CLINVAR Androgen receptor mutations associated with androgen insensitivity syndrome: a high content analysis approach leading to personalized medicine. 20011049

2009
dbSNP: rs9332969
rs9332969
AR
A 0.820 CausalMutation CLINVAR "Genetic analysis of a family with 46,XY ""female"" associated with infertility." 16450583

2006
dbSNP: rs9332969
rs9332969
AR
A 0.820 CausalMutation CLINVAR Novel and recurrent mutations in patients with androgen insensitivity syndromes. 15925895

2005
dbSNP: rs9332969
rs9332969
AR
A 0.820 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: rs9332969
rs9332969
AR
A 0.820 CausalMutation CLINVAR Functional analysis of six androgen receptor mutations identified in patients with partial androgen insensitivity syndrome. 8824883

1996
dbSNP: rs9332969
rs9332969
AR
A 0.820 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: rs9332969
rs9332969
AR
A 0.820 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 0.810 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 0.810 CausalMutation CLINVAR Dissecting phenotypic variation among AIS patients. 16083860

2005
dbSNP: rs137852577
rs137852577
AR
T 0.810 CausalMutation CLINVAR Novel and recurrent mutations in patients with androgen insensitivity syndromes. 15925895

2005
dbSNP: rs137852577
rs137852577
AR
T 0.810 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 0.810 CausalMutation CLINVAR We studied two mutants associated with partial AIS: G743V and R840C. 9768671

1998
dbSNP: rs137852577
rs137852577
AR
T 0.810 CausalMutation CLINVAR Functional analysis of six androgen receptor mutations identified in patients with partial androgen insensitivity syndrome. 8824883

1996
dbSNP: rs137852577
rs137852577
AR
T 0.810 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 0.810 CausalMutation CLINVAR Mutations in the ligand-binding domain of the androgen receptor gene cluster in two regions of the gene. 1430233

1992
dbSNP: rs137852564
rs137852564
AR
A 0.810 CausalMutation CLINVAR

dbSNP: rs137852586
rs137852586
AR
T 0.810 CausalMutation CLINVAR

dbSNP: rs137852586
rs137852586
AR
A 0.810 CausalMutation CLINVAR

dbSNP: rs137852600
rs137852600
AR
T 0.810 CausalMutation CLINVAR

dbSNP: rs137852600
rs137852600
AR
A 0.810 CausalMutation CLINVAR

dbSNP: rs886041132
rs886041132
AR
T 0.810 CausalMutation CLINVAR