Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137852577
rs137852577
AR
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		0.810 GeneticVariation UNIPROT Immunoreactive androgen receptor expression in subjects with androgen resistance. 1464650

1992
dbSNP: rs137852577
rs137852577
AR
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		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: rs137852577
rs137852577
AR
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		T 0.810 CausalMutation CLINVAR Mutations in the ligand-binding domain of the androgen receptor gene cluster in two regions of the gene. 1430233

1992