Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs143040492
rs143040492
AR
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		0.710 GeneticVariation BEFREE As AR missense mutations changing alanine 870 to valine have been previously described in 3 unrelated patients showing severe AIS phenotypes, we conclude that phenotypic heterogeneity associated to identical mutations in the AR gene is probably due to individual functional differences in AR coregulator molecules. 12006704

2002
dbSNP: rs143040492
rs143040492
AR
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		T 0.710 CausalMutation CLINVAR The clinical and molecular spectrum of androgen insensitivity syndromes. 8723113

1996