Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137852569
rs137852569
AR
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		A 0.800 CausalMutation CLINVAR Clinical and molecular characteristics in 15 patients with androgen receptor gene mutations from South China. 28261839

2017
dbSNP: rs137852569
rs137852569
AR
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		A 0.800 CausalMutation CLINVAR Androgen insensitivity syndrome in a cohort of Sri Lankan children with 46, XY disorders of sex development (46, XY DSD). 26778393

2015
dbSNP: rs137852569
rs137852569
AR
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		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: rs137852569
rs137852569
AR
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		0.800 GeneticVariation UNIPROT Eight novel mutations of the androgen receptor gene in patients with androgen insensitivity syndrome. 11587068

2001
dbSNP: rs137852569
rs137852569
AR
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		0.800 GeneticVariation UNIPROT Androgen receptor gene mutations in 46,XY females with germ cell tumours. 10221692

1999
dbSNP: rs137852569
rs137852569
AR
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		0.800 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: rs137852569
rs137852569
AR
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		0.800 GeneticVariation UNIPROT Molecular analysis of the androgen receptor gene in 4 patients with complete androgen insensitivity. 9544375

1998
dbSNP: rs137852569
rs137852569
AR
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		0.800 GeneticVariation UNIPROT One additional mutation at exon A amplifies thermolability of androgen receptor in a case with complete androgen insensitivity syndrome. 9610419

1998
dbSNP: rs137852569
rs137852569
AR
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		0.800 GeneticVariation UNIPROT Mutations of androgen receptor gene in Brazilian patients with male pseudohermaphroditism. 9698822

1998
dbSNP: rs137852569
rs137852569
AR
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		0.800 GeneticVariation UNIPROT Androgen receptor point mutations as the underlying molecular defect in 2 patients with androgen insensitivity syndrome. 9302173

1997
dbSNP: rs137852569
rs137852569
AR
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		0.800 GeneticVariation UNIPROT Clinical and biochemical investigations and molecular analysis of subjects with mutations in the androgen receptor gene. 9039340

1996
dbSNP: rs137852569
rs137852569
AR
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		0.800 GeneticVariation UNIPROT The clinical and molecular spectrum of androgen insensitivity syndromes. 8723113

1996
dbSNP: rs137852569
rs137852569
AR
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		0.800 GeneticVariation UNIPROT Androgen insensitivity syndrome due to new mutations in the DNA-binding domain of the androgen receptor. 8809734

1996
dbSNP: rs137852569
rs137852569
AR
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		0.800 GeneticVariation UNIPROT Leu-676-Pro mutation of the androgen receptor causes complete androgen insensitivity syndrome in a large Hutterite kindred. 7537149

1995
dbSNP: rs137852569
rs137852569
AR
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		0.800 GeneticVariation UNIPROT Human androgen insensitivity due to point mutations encoding amino acid substitutions in the androgen receptor steroid-binding domain. 7581399

1995
dbSNP: rs137852569
rs137852569
AR
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		0.800 GeneticVariation UNIPROT Androgen receptor defects: historical, clinical, and molecular perspectives. 7671849

1995
dbSNP: rs137852569
rs137852569
AR
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		0.800 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: rs137852569
rs137852569
AR
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		0.800 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: rs137852569
rs137852569
AR
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		0.800 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: rs137852569
rs137852569
AR
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		0.800 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: rs137852569
rs137852569
AR
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		0.800 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: rs137852569
rs137852569
AR
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		0.800 GeneticVariation UNIPROT Immunoreactive androgen receptor expression in subjects with androgen resistance. 1464650

1992
dbSNP: rs137852569
rs137852569
AR
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		A 0.800 CausalMutation CLINVAR Point mutation in the DNA binding domain of the androgen receptor in two families with Reifenstein syndrome. 1598912

1992
dbSNP: rs137852569
rs137852569
AR
CUI: C1839259
Disease: Bulbo-Spinal Atrophy, X-Linked
Bulbo-Spinal Atrophy, X-Linked 		A 0.700 CausalMutation CLINVAR Clinical and molecular characteristics in 15 patients with androgen receptor gene mutations from South China. 28261839

2017
dbSNP: rs137852569
rs137852569
AR
CUI: C1839259
Disease: Bulbo-Spinal Atrophy, X-Linked
Bulbo-Spinal Atrophy, X-Linked 		A 0.700 CausalMutation CLINVAR Androgen insensitivity syndrome in a cohort of Sri Lankan children with 46, XY disorders of sex development (46, XY DSD). 26778393

2015