rs200737258, AR

N. diseases: 4
Disease: Congenital adrenal hyperplasia ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Congenital adrenal hyperplasia
CUI: C0001627
Disease: Congenital adrenal hyperplasia
0.010 GeneticVariation BEFREE An androgen receptor gene mutation (E653K) in a family with congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency as well as in partial androgen insensitivity. 12050225 2002