Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs886039558
rs886039558
AR
T 0.700 CausalMutation CLINVAR Novel and recurrent mutations in patients with androgen insensitivity syndromes. 15925895

2005
dbSNP: rs886041133
rs886041133
AR
A 0.700 CausalMutation CLINVAR Novel and recurrent mutations in patients with androgen insensitivity syndromes. 15925895

2005
dbSNP: rs9332969
rs9332969
AR
A 0.700 CausalMutation CLINVAR Novel and recurrent mutations in patients with androgen insensitivity syndromes. 15925895

2005
dbSNP: rs1555996863
rs1555996863
AR
A 0.700 CausalMutation CLINVAR Residual activity of mutant androgen receptors explains wolffian duct development in the complete androgen insensitivity syndrome. 15531547

2004
dbSNP: rs886041133
rs886041133
AR
A 0.700 CausalMutation CLINVAR Novel androgen receptor gene mutations in Australian patients with complete androgen insensitivity syndrome. 14974091

2004
dbSNP: rs886039558
rs886039558
AR
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: 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: 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: rs9332969
rs9332969
AR
A 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: rs1555996810
rs1555996810
AR
C 0.700 CausalMutation CLINVAR Disrupted amino- and carboxyl-terminal interactions of the androgen receptor are linked to androgen insensitivity. 11376111

2001
dbSNP: rs3032358
rs3032358
AR
0.700 SusceptibilityMutation CLINVAR Thirty-seven CAG repeats in the androgen receptor gene in two healthy individuals. 11266016

2001
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: 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: rs886041133
rs886041133
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: 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: rs1555995822
rs1555995822
AR
A 0.700 GeneticVariation CLINVAR Update of the androgen receptor gene mutations database. 10425033

1999
dbSNP: rs1555996810
rs1555996810
AR
C 0.700 CausalMutation CLINVAR Screening for mutations in candidate genes for hypospadias. 10092153

1999
dbSNP: rs886039558
rs886039558
AR
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
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: 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 Wide variation in androgen receptor dysfunction in complete androgen insensitivity syndrome. 9328206

1997
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 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 Functional analysis of six androgen receptor mutations identified in patients with partial androgen insensitivity syndrome. 8824883

1996
dbSNP: rs143040492
rs143040492
AR
T 0.700 CausalMutation CLINVAR The clinical and molecular spectrum of androgen insensitivity syndromes. 8723113

1996