Variant Gene Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs9332971
rs9332971
AR
0.810 GeneticVariation UNIPROT Human androgen receptor gene ligand-binding-domain mutations leading to disrupted interaction between the N- and C-terminal domains. 16595706

2006

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: rs137852577
rs137852577
AR
0.810 GeneticVariation UNIPROT Trafficking of androgen receptor mutants fused to green fluorescent protein: a new investigation of partial androgen insensitivity syndrome. 9768671

1998

dbSNP: rs137852586
rs137852586
AR
0.810 GeneticVariation UNIPROT Androgen insensitivity syndrome due to new mutations in the DNA-binding domain of the androgen receptor. 8809734

1997

dbSNP: rs9332969
rs9332969
AR
0.810 GeneticVariation UNIPROT Clinical and biochemical investigations and molecular analysis of subjects with mutations in the androgen receptor gene. 9039340

1997

dbSNP: rs9332971
rs9332971
AR
0.810 GeneticVariation UNIPROT Clinical and biochemical investigations and molecular analysis of subjects with mutations in the androgen receptor gene. 9039340

1997

dbSNP: rs9332971
rs9332971
AR
0.810 GeneticVariation UNIPROT Germ-line and somatic mosaicism in the androgen insensitivity syndrome: implications for genetic counseling. 9106550

1997

dbSNP: rs137852577
rs137852577
AR
0.810 GeneticVariation UNIPROT Functional analysis of six androgen receptor mutations identified in patients with partial androgen insensitivity syndrome. 8824883

1996

dbSNP: rs9332969
rs9332969
AR
0.810 GeneticVariation UNIPROT A frame-shift mutation of the androgen receptor gene in a patient with receptor-negative complete testicular feminization: comparison with a single base substitution in a receptor-reduced incomplete form. 8830623

1996

dbSNP: rs9332971
rs9332971
AR
0.810 GeneticVariation UNIPROT Functional analysis of six androgen receptor mutations identified in patients with partial androgen insensitivity syndrome. 8824883

1996

dbSNP: rs137852577
rs137852577
AR
0.810 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
0.810 GeneticVariation UNIPROT 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
0.810 GeneticVariation UNIPROT Molecular prenatal exclusion of familial partial androgen insensitivity (Reifenstein syndrome) 7909256

1994

dbSNP: rs9332969
rs9332969
AR
0.810 GeneticVariation UNIPROT Characterization of mutant androgen receptors causing partial androgen insensitivity syndrome. 8126121

1994

dbSNP: rs9332969
rs9332969
AR
0.810 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
0.810 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: rs9332971
rs9332971
AR
0.810 GeneticVariation UNIPROT Mutations of the androgen receptor gene identified in perineal hypospadias. 8097257

1993

dbSNP: rs137852564
rs137852564
AR
0.810 GeneticVariation UNIPROT

dbSNP: rs886041132
rs886041132
AR
0.800 GeneticVariation UNIPROT Comparison of crystal structures of human androgen receptor ligand-binding domain complexed with various agonists reveals molecular determinants responsible for binding affinity. 16641486

2006

dbSNP: rs137852569
rs137852569
AR
0.800 GeneticVariation UNIPROT Clinical and molecular spectrum of somatic mosaicism in androgen insensitivity syndrome. 10590024

1999

dbSNP: rs137852562
rs137852562
AR
0.800 GeneticVariation UNIPROT Molecular analysis of the androgen receptor gene in 4 patients with complete androgen insensitivity. 9544375

1998

dbSNP: rs137852562
rs137852562
AR
0.800 GeneticVariation UNIPROT Mutations of the androgen receptor gene in patients with complete androgen insensitivity. 8990010

1997

dbSNP: rs886041132
rs886041132
AR
0.800 GeneticVariation UNIPROT DNA analysis of the androgen receptor gene in two cases with complete androgen insensitivity syndrome. 9255042

1997

dbSNP: rs886041132
rs886041132
AR
0.800 GeneticVariation UNIPROT Rapid detection of a mutation hot-spot in the human androgen receptor. 9001799

1997

dbSNP: rs137852585
rs137852585
AR
0.800 GeneticVariation UNIPROT A novel substitution (Leu707Arg) in exon 4 of the androgen receptor gene causes complete androgen resistance. 8626869

1996