Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137852600
rs137852600
AR
0.810 GeneticVariation BEFREE A single amino acid substitution (gly743 --> val) in the steroid-binding domain of the human androgen receptor leads to Reifenstein syndrome. 8325932

1993
dbSNP: rs137852600
rs137852600
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: rs137852600
rs137852600
AR
0.810 GeneticVariation UNIPROT A single amino acid substitution (gly743 --> val) in the steroid-binding domain of the human androgen receptor leads to Reifenstein syndrome. 8325932

1993
dbSNP: rs137852600
rs137852600
AR
0.810 GeneticVariation UNIPROT Mutations of the androgen receptor gene identified in perineal hypospadias. 8097257

1993
dbSNP: rs137852573
rs137852573
AR
0.810 GeneticVariation UNIPROT Androgen receptor gene mutations identified by SSCP in fourteen subjects with androgen insensitivity syndrome. 1307250

1992
dbSNP: rs137852573
rs137852573
AR
0.810 GeneticVariation UNIPROT Point mutations detected in the androgen receptor gene of three men with partial androgen insensitivity syndrome. 1424203

1992
dbSNP: rs137852573
rs137852573
AR
0.810 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: rs137852591
rs137852591
AR
0.810 GeneticVariation UNIPROT Point mutations detected in the androgen receptor gene of three men with partial androgen insensitivity syndrome. 1424203

1992
dbSNP: rs137852591
rs137852591
AR
0.810 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: rs137852591
rs137852591
AR
0.810 GeneticVariation UNIPROT Androgen receptor gene mutations identified by SSCP in fourteen subjects with androgen insensitivity syndrome. 1307250

1992
dbSNP: rs137852600
rs137852600
AR
0.810 GeneticVariation UNIPROT Point mutations detected in the androgen receptor gene of three men with partial androgen insensitivity syndrome. 1424203

1992
dbSNP: rs137852600
rs137852600
AR
0.810 GeneticVariation UNIPROT Androgen receptor gene mutations identified by SSCP in fourteen subjects with androgen insensitivity syndrome. 1307250

1992
dbSNP: rs137852600
rs137852600
AR
0.810 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: rs137852573
rs137852573
AR
A 0.810 CausalMutation CLINVAR

dbSNP: rs137852591
rs137852591
AR
G 0.810 CausalMutation CLINVAR

dbSNP: rs137852600
rs137852600
AR
T 0.810 CausalMutation CLINVAR

dbSNP: rs104894742
rs104894742
AR
0.800 GeneticVariation UNIPROT Concordance of phenotypic expression and gender identity in a large kindred with a mutation in the androgen receptor. 14756668

2004
dbSNP: rs137852564
rs137852564
AR
0.800 GeneticVariation UNIPROT Concordance of phenotypic expression and gender identity in a large kindred with a mutation in the androgen receptor. 14756668

2004
dbSNP: rs137852567
rs137852567
AR
0.800 GeneticVariation UNIPROT Concordance of phenotypic expression and gender identity in a large kindred with a mutation in the androgen receptor. 14756668

2004
dbSNP: rs137852592
rs137852592
AR
0.800 GeneticVariation UNIPROT Concordance of phenotypic expression and gender identity in a large kindred with a mutation in the androgen receptor. 14756668

2004
dbSNP: rs104894742
rs104894742
AR
0.800 GeneticVariation UNIPROT Eight novel mutations of the androgen receptor gene in patients with androgen insensitivity syndrome. 11587068

2001
dbSNP: rs137852564
rs137852564
AR
0.800 GeneticVariation UNIPROT Eight novel mutations of the androgen receptor gene in patients with androgen insensitivity syndrome. 11587068

2001
dbSNP: rs137852567
rs137852567
AR
0.800 GeneticVariation UNIPROT Eight novel mutations of the androgen receptor gene in patients with androgen insensitivity syndrome. 11587068

2001
dbSNP: rs137852592
rs137852592
AR
0.800 GeneticVariation UNIPROT Eight novel mutations of the androgen receptor gene in patients with androgen insensitivity syndrome. 11587068

2001
dbSNP: rs104894742
rs104894742
AR
0.800 GeneticVariation UNIPROT Directed pharmacological therapy of ambiguous genitalia due to an androgen receptor gene mutation. 10543676

1999