Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555996863
rs1555996863
AR
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		A 0.800 CausalMutation CLINVAR Characteristic features of reproductive hormone profiles in late adolescent and adult females with complete androgen insensitivity syndrome. 25613104

2015
dbSNP: rs1555996863
rs1555996863
AR
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		A 0.800 CausalMutation CLINVAR The clinical and molecular spectrum of androgen insensitivity syndromes. 8723113

1996
dbSNP: rs1555996863
rs1555996863
AR
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		A 0.800 CausalMutation CLINVAR Functional characterisation of mutations in the ligand-binding domain of the androgen receptor gene in patients with androgen insensitivity syndrome. 9856504

1998
dbSNP: rs1555996863
rs1555996863
AR
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		A 0.800 CausalMutation CLINVAR Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort. 27899157

2016
dbSNP: rs1555996863
rs1555996863
AR
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		A 0.800 CausalMutation CLINVAR Residual activity of mutant androgen receptors explains wolffian duct development in the complete androgen insensitivity syndrome. 15531547

2004