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
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 AR mutations in 28 patients with androgen insensitivity syndrome (Prader grade 0-3). 28624954

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
0.820 GeneticVariation UNIPROT Concordance of phenotypic expression and gender identity in a large kindred with a mutation in the androgen receptor. 14756668

2004
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
0.820 GeneticVariation UNIPROT Eight novel mutations of the androgen receptor gene in patients with androgen insensitivity syndrome. 11587068

2001
dbSNP: rs9332969
rs9332969
AR
0.820 GeneticVariation UNIPROT Androgen receptor gene mutations in 46,XY females with germ cell tumours. 10221692

1999
dbSNP: rs9332969
rs9332969
AR
0.820 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: rs9332969
rs9332969
AR
0.820 GeneticVariation UNIPROT Mutations of androgen receptor gene in Brazilian patients with male pseudohermaphroditism. 9698822

1998
dbSNP: rs9332969
rs9332969
AR
0.820 GeneticVariation UNIPROT Molecular analysis of the androgen receptor gene in 4 patients with complete androgen insensitivity. 9544375

1998
dbSNP: rs9332969
rs9332969
AR
0.820 GeneticVariation UNIPROT One additional mutation at exon A amplifies thermolability of androgen receptor in a case with complete androgen insensitivity syndrome. 9610419

1998
dbSNP: rs9332969
rs9332969
AR
0.820 GeneticVariation UNIPROT Androgen receptor point mutations as the underlying molecular defect in 2 patients with androgen insensitivity syndrome. 9302173

1997
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
0.820 GeneticVariation UNIPROT Clinical and biochemical investigations and molecular analysis of subjects with mutations in the androgen receptor gene. 9039340

1996
dbSNP: rs9332969
rs9332969
AR
0.820 GeneticVariation UNIPROT Androgen insensitivity syndrome due to new mutations in the DNA-binding domain of the androgen receptor. 8809734

1996
dbSNP: rs9332969
rs9332969
AR
0.820 GeneticVariation UNIPROT The clinical and molecular spectrum of androgen insensitivity syndromes. 8723113

1996
dbSNP: rs9332969
rs9332969
AR
0.820 GeneticVariation UNIPROT Human androgen insensitivity due to point mutations encoding amino acid substitutions in the androgen receptor steroid-binding domain. 7581399

1995
dbSNP: rs9332969
rs9332969
AR
0.820 GeneticVariation UNIPROT Androgen receptor defects: historical, clinical, and molecular perspectives. 7671849

1995
dbSNP: rs9332969
rs9332969
AR
0.820 GeneticVariation UNIPROT Leu-676-Pro mutation of the androgen receptor causes complete androgen insensitivity syndrome in a large Hutterite kindred. 7537149

1995
dbSNP: rs9332969
rs9332969
AR
0.820 GeneticVariation UNIPROT 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 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