Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555990470
rs1555990470
AR
A 0.700 GeneticVariation CLINVAR C601S mutation in the androgen receptor results in partial loss of androgen function. 20493947

2010
dbSNP: rs1555990470
rs1555990470
AR
A 0.700 GeneticVariation CLINVAR Two mutations causing complete androgen insensitivity: a frame-shift in the steroid binding domain and a Cys-->Phe substitution in the second zinc finger of the androgen receptor. 7981689

1994
dbSNP: rs1555995822
rs1555995822
AR
A 0.700 GeneticVariation CLINVAR Update of the androgen receptor gene mutations database. 10425033

1999
dbSNP: rs1555998108
rs1555998108
AR
T 0.700 GeneticVariation CLINVAR

dbSNP: rs730880031
rs730880031
CHCHD10 ; LOC107985577
0.010 GeneticVariation BEFREE We retrospectively re-assessed muscle biopsy findings in 23 patients with autosomal dominant lower motor neuron disease caused by p.G66V mutation in CHCHD10 (SMAJ), 10 X-linked spinal and bulbar muscular atrophy (SBMA) and 11 autosomal dominant c9orf72-mutated amyotrophic lateral sclerosis (c9ALS) patients. 26999347

2016
dbSNP: rs765672269
rs765672269
IGFALS ; SPSB3
0.010 GeneticVariation BEFREE We retrospectively re-assessed muscle biopsy findings in 23 patients with autosomal dominant lower motor neuron disease caused by p.G66V mutation in CHCHD10 (SMAJ), 10 X-linked spinal and bulbar muscular atrophy (SBMA) and 11 autosomal dominant c9orf72-mutated amyotrophic lateral sclerosis (c9ALS) patients. 26999347

2016
dbSNP: rs80265967
rs80265967
SOD1
0.010 GeneticVariation BEFREE Granular inclusions were also found in carriers of SOD1 mutations and in spinobulbar muscular atrophy (SBMA) patients and they were the major type of inclusion detected in ALS patients homozygous for the wild type-like D90A mutation. 20644736

2010
dbSNP: rs3032358
rs3032358
AR
0.700 SusceptibilityMutation CLINVAR Thirty-seven CAG repeats in the androgen receptor gene in two healthy individuals. 11266016

2001
dbSNP: rs112374098
rs112374098
AR
T 0.700 CausalMutation CLINVAR

dbSNP: rs137852564
rs137852564
AR
A 0.700 CausalMutation CLINVAR

dbSNP: rs137852565
rs137852565
AR
A 0.700 CausalMutation CLINVAR Characteristic features of reproductive hormone profiles in late adolescent and adult females with complete androgen insensitivity syndrome. 25613104

2015
dbSNP: rs137852565
rs137852565
AR
A 0.700 CausalMutation CLINVAR A single nucleotide substitution introduces a premature termination codon into the androgen receptor gene of a patient with receptor-negative androgen resistance. 2332504

1990
dbSNP: rs137852569
rs137852569
AR
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
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
dbSNP: rs137852569
rs137852569
AR
A 0.700 CausalMutation CLINVAR Point mutation in the DNA binding domain of the androgen receptor in two families with Reifenstein syndrome. 1598912

1992
dbSNP: rs137852573
rs137852573
AR
A 0.700 CausalMutation CLINVAR The clinical and molecular spectrum of androgen insensitivity syndromes. 8723113

1996
dbSNP: rs137852573
rs137852573
AR
A 0.700 CausalMutation CLINVAR Male infertility and androgen receptor gene mutations: clinical features and identification of seven novel mutations. 17054461

2006
dbSNP: rs137852573
rs137852573
AR
A 0.700 CausalMutation CLINVAR Clinical and biochemical investigations and molecular analysis of subjects with mutations in the androgen receptor gene. 9039340

1996
dbSNP: rs137852573
rs137852573
AR
A 0.700 CausalMutation CLINVAR Postnatal changes of T, LH, and FSH in 46,XY infants with mutations in the AR gene. 11788616

2002
dbSNP: rs137852577
rs137852577
AR
T 0.700 CausalMutation CLINVAR Functional analysis of six androgen receptor mutations identified in patients with partial androgen insensitivity syndrome. 8824883

1996
dbSNP: rs137852577
rs137852577
AR
T 0.700 CausalMutation CLINVAR Mutations in the ligand-binding domain of the androgen receptor gene cluster in two regions of the gene. 1430233

1992
dbSNP: rs137852577
rs137852577
AR
T 0.700 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 0.700 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: rs137852577
rs137852577
AR
T 0.700 CausalMutation CLINVAR Trafficking of androgen receptor mutants fused to green fluorescent protein: a new investigation of partial androgen insensitivity syndrome. 9768671

1998
dbSNP: rs137852577
rs137852577
AR
T 0.700 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