Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs9332969
rs9332969
AR
0.820 GeneticVariation BEFREE Single amino acid substitution (840Arg-->His) in the hormone-binding domain of the androgen receptor leads to incomplete androgen insensitivity syndrome associated with a thermolabile androgen receptor. 8205256

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
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 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
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
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: rs137852564
rs137852564
AR
0.810 GeneticVariation BEFREE In-silico analysis of mutations observed in androgen receptor gene of androgen insensitivity syndrome predicted that the substitution at Y572C and V867M could probably disrupt the protein structure and function. 26688387

2016
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: rs137852586
rs137852586
AR
0.810 GeneticVariation BEFREE In a complete AIS patient (subject 1), cysteine residue 579 in the first zinc finger motif of AR was substituted for phenylalanine (AR-C579F). 16118342

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: rs886041132
rs886041132
AR
0.810 GeneticVariation BEFREE Molecular dynamic modeling produced profoundly different models for each of the mutants: in modeling of R855C a surprisingly significant distant alteration in the position of helix 12 of the helix 12 positioning of the AR ligand binding domain (AR-LBD) occurs, which would predict severe ligand binding abnormalities and complete AIS; in modeling of R855H, no dramatic effect on the position of helix 12 was seen; thus, binding properties of the receptor are not compromised. 15118070

2004
dbSNP: rs9332971
rs9332971
AR
0.810 GeneticVariation BEFREE Molecular dynamic modeling produced profoundly different models for each of the mutants: in modeling of R855C a surprisingly significant distant alteration in the position of helix 12 of the helix 12 positioning of the AR ligand binding domain (AR-LBD) occurs, which would predict severe ligand binding abnormalities and complete AIS; in modeling of R855H, no dramatic effect on the position of helix 12 was seen; thus, binding properties of the receptor are not compromised. 15118070

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