Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137852565
rs137852565
AR
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		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
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		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