rs9332964, SRD5A2

N. diseases: 10
Disease: Micropenis ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Micropenis
CUI: C4551492
Disease: Micropenis
0.710 GeneticVariation BEFREE The results suggest that, in Japanese patients, micropenis can be caused by SRD5A2 gene mutations, especially by R227Q which has been shown to retain approximately 3.2% of normal enzyme activity and appears relatively frequent in Asian populations, and that V89L polymorphism is unlikely to raise the susceptibility to the development of micropenis. 12843198 2003
Micropenis
CUI: C4551492
Disease: Micropenis
0.710 CausalMutation CLINVAR