rs9332964, SRD5A2

N. diseases: 10
Disease: Penile hypospadias ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Penile hypospadias
CUI: C1691215
Disease: Penile hypospadias
0.010 GeneticVariation BEFREE Eight different SRD5A2 mutations were detected in 15 patients with posterior hypospadias (60%, 15/25), including six previously described mutations (p.Q6X, Q71X, p.L20P, p.G203S, p.R227Q, and p.R246Q) and two novel mutations (p.G196R and p.L73Pfs<sup>∗</sup>17). 28663096 2017