AR, androgen receptor, 367

N. diseases: 854; N. variants: 163
Disease: Klinefelter's syndrome - male with more than two X chromosomes ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs139767835
rs139767835
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C0432474
Disease:
Klinefelter's syndrome - male with more than two X chromosomes 		0.010 GeneticVariation BEFREE Three patients presented Klinefelter syndrome and three a partial androgen insensitivity syndrome (PAIS) as a result of p.Ala646Asp and p.Ala45Gly mutations of the androgen receptor gene. 26845730 2016