Gene: AR ×
Source: CURATED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs9332969
rs9332969
AR
0.820 GeneticVariation UNIPROT A practical approach to the detection of androgen receptor gene mutations and pedigree analysis in families with x-linked androgen insensitivity. 7970939

1994
dbSNP: rs9332969
rs9332969
AR
0.820 GeneticVariation UNIPROT Single strand conformation polymorphism analysis of androgen receptor gene mutations in patients with androgen insensitivity syndromes: application for diagnosis, genetic counseling, and therapy. 8325950

1993
dbSNP: rs9332969
rs9332969
AR
0.820 GeneticVariation UNIPROT A single-base substitution in exon 6 of the androgen receptor gene causing complete androgen insensitivity: the mutated receptor fails to transactivate but binds to DNA in vitro. 8281140

1993
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: rs9332969
rs9332969
AR
0.820 GeneticVariation UNIPROT Amino acid substitutions in the DNA-binding domain of the human androgen receptor are a frequent cause of receptor-binding positive androgen resistance. 1316540

1992
dbSNP: rs9332969
rs9332969
AR
0.820 GeneticVariation UNIPROT Immunoreactive androgen receptor expression in subjects with androgen resistance. 1464650

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 Novel and recurrent mutations in patients with androgen insensitivity syndromes. 15925895

2005
dbSNP: rs137852577
rs137852577
AR
T 0.810 CausalMutation CLINVAR Dissecting phenotypic variation among AIS patients. 16083860

2005
dbSNP: rs137852564
rs137852564
AR
0.810 GeneticVariation UNIPROT Concordance of phenotypic expression and gender identity in a large kindred with a mutation in the androgen receptor. 14756668

2004
dbSNP: rs137852577
rs137852577
AR
0.810 GeneticVariation UNIPROT Concordance of phenotypic expression and gender identity in a large kindred with a mutation in the androgen receptor. 14756668

2004
dbSNP: rs137852586
rs137852586
AR
0.810 GeneticVariation UNIPROT Concordance of phenotypic expression and gender identity in a large kindred with a mutation in the androgen receptor. 14756668

2004
dbSNP: rs137852600
rs137852600
AR
0.810 GeneticVariation UNIPROT Concordance of phenotypic expression and gender identity in a large kindred with a mutation in the androgen receptor. 14756668

2004
dbSNP: rs886041132
rs886041132
AR
0.810 GeneticVariation UNIPROT Concordance of phenotypic expression and gender identity in a large kindred with a mutation in the androgen receptor. 14756668

2004
dbSNP: rs9332971
rs9332971
AR
0.810 GeneticVariation UNIPROT Concordance of phenotypic expression and gender identity in a large kindred with a mutation in the androgen receptor. 14756668

2004
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: rs137852564
rs137852564
AR
0.810 GeneticVariation UNIPROT Eight novel mutations of the androgen receptor gene in patients with androgen insensitivity syndrome. 11587068

2001
dbSNP: rs137852577
rs137852577
AR
0.810 GeneticVariation UNIPROT Eight novel mutations of the androgen receptor gene in patients with androgen insensitivity syndrome. 11587068

2001
dbSNP: rs137852586
rs137852586
AR
0.810 GeneticVariation UNIPROT Eight novel mutations of the androgen receptor gene in patients with androgen insensitivity syndrome. 11587068

2001
dbSNP: rs137852600
rs137852600
AR
0.810 GeneticVariation UNIPROT Eight novel mutations of the androgen receptor gene in patients with androgen insensitivity syndrome. 11587068

2001
dbSNP: rs886041132
rs886041132
AR
0.810 GeneticVariation UNIPROT Eight novel mutations of the androgen receptor gene in patients with androgen insensitivity syndrome. 11587068

2001
dbSNP: rs9332971
rs9332971
AR
0.810 GeneticVariation UNIPROT Eight novel mutations of the androgen receptor gene in patients with androgen insensitivity syndrome. 11587068

2001
dbSNP: rs137852564
rs137852564
AR
0.810 GeneticVariation UNIPROT Point mutations in the steroid-binding domain of the androgen receptor gene of five Japanese patients with androgen insensitivity syndrome. 10458483

1999
dbSNP: rs137852564
rs137852564
AR
0.810 GeneticVariation UNIPROT Androgen receptor gene mutations in 46,XY females with germ cell tumours. 10221692

1999
dbSNP: rs137852577
rs137852577
AR
0.810 GeneticVariation UNIPROT Point mutations in the steroid-binding domain of the androgen receptor gene of five Japanese patients with androgen insensitivity syndrome. 10458483

1999