Gene: AR ×
Source: UNIPROT ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137852573
rs137852573
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: rs137852591
rs137852591
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: rs137852573
rs137852573
AR
0.810 GeneticVariation UNIPROT Eight novel mutations of the androgen receptor gene in patients with androgen insensitivity syndrome. 11587068

2001
dbSNP: rs137852591
rs137852591
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: rs137852573
rs137852573
AR
0.810 GeneticVariation UNIPROT Directed pharmacological therapy of ambiguous genitalia due to an androgen receptor gene mutation. 10543676

1999
dbSNP: rs137852591
rs137852591
AR
0.810 GeneticVariation UNIPROT Directed pharmacological therapy of ambiguous genitalia due to an androgen receptor gene mutation. 10543676

1999
dbSNP: rs137852600
rs137852600
AR
0.810 GeneticVariation UNIPROT Directed pharmacological therapy of ambiguous genitalia due to an androgen receptor gene mutation. 10543676

1999
dbSNP: rs137852573
rs137852573
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: rs137852573
rs137852573
AR
0.810 GeneticVariation UNIPROT Response to androgen treatment in a patient with partial androgen insensitivity and a mutation in the deoxyribonucleic acid-binding domain of the androgen receptor. 9543136

1998
dbSNP: rs137852591
rs137852591
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: rs137852591
rs137852591
AR
0.810 GeneticVariation UNIPROT Response to androgen treatment in a patient with partial androgen insensitivity and a mutation in the deoxyribonucleic acid-binding domain of the androgen receptor. 9543136

1998
dbSNP: rs137852600
rs137852600
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: rs137852600
rs137852600
AR
0.810 GeneticVariation UNIPROT Response to androgen treatment in a patient with partial androgen insensitivity and a mutation in the deoxyribonucleic acid-binding domain of the androgen receptor. 9543136

1998
dbSNP: rs137852573
rs137852573
AR
0.810 GeneticVariation UNIPROT Androgen receptor point mutations as the underlying molecular defect in 2 patients with androgen insensitivity syndrome. 9302173

1997
dbSNP: rs137852591
rs137852591
AR
0.810 GeneticVariation UNIPROT Androgen receptor point mutations as the underlying molecular defect in 2 patients with androgen insensitivity syndrome. 9302173

1997
dbSNP: rs137852600
rs137852600
AR
0.810 GeneticVariation UNIPROT Androgen receptor point mutations as the underlying molecular defect in 2 patients with androgen insensitivity syndrome. 9302173

1997
dbSNP: rs137852573
rs137852573
AR
0.810 GeneticVariation UNIPROT Functional analysis of six androgen receptor mutations identified in patients with partial androgen insensitivity syndrome. 8824883

1996
dbSNP: rs137852573
rs137852573
AR
0.810 GeneticVariation UNIPROT A novel missense mutation in the amino-terminal domain of the human androgen receptor gene in a family with partial androgen insensitivity syndrome causes reduced efficiency of protein translation. 8823308

1996
dbSNP: rs137852573
rs137852573
AR
0.810 GeneticVariation UNIPROT Clinical and biochemical investigations and molecular analysis of subjects with mutations in the androgen receptor gene. 9039340

1996
dbSNP: rs137852591
rs137852591
AR
0.810 GeneticVariation UNIPROT A novel missense mutation in the amino-terminal domain of the human androgen receptor gene in a family with partial androgen insensitivity syndrome causes reduced efficiency of protein translation. 8823308

1996
dbSNP: rs137852591
rs137852591
AR
0.810 GeneticVariation UNIPROT Clinical and biochemical investigations and molecular analysis of subjects with mutations in the androgen receptor gene. 9039340

1996
dbSNP: rs137852591
rs137852591
AR
0.810 GeneticVariation UNIPROT The mutations, Met742Ile, Met780Ile, Gln798Glu, Arg840Cys, Arg855His and Ile869Met, were identified in PAIS patients with phenotypes representing the full spectrum seen in this condition. 8824883

1996
dbSNP: rs137852600
rs137852600
AR
0.810 GeneticVariation UNIPROT Clinical and biochemical investigations and molecular analysis of subjects with mutations in the androgen receptor gene. 9039340

1996