AR, androgen receptor, 367

N. diseases: 854; N. variants: 163
Disease: Bulbo-Spinal Atrophy, X-Linked ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555997580
rs1555997580
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C1839259
Disease:
Bulbo-Spinal Atrophy, X-Linked 		T 0.700 CausalMutation CLINVAR Targeted next-generation sequencing identification of mutations in patients with disorders of sex development. 26980296 2016
dbSNP: rs1555997580
rs1555997580
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C1839259
Disease:
Bulbo-Spinal Atrophy, X-Linked 		T 0.700 CausalMutation CLINVAR Androgen resistance due to mutation of the androgen receptor. 1458719 1992