rs9332960, SRD5A2

N. diseases: 3
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Pseudovaginal Perineoscrotal Hypospadias
CUI: C0268297
Disease: Pseudovaginal Perineoscrotal Hypospadias
0.700 CausalMutation CLINVAR A novel SRD5A2 mutation with loss of function identified in Chinese patients with hypospadias. 21540559 2011
Pseudovaginal Perineoscrotal Hypospadias
CUI: C0268297
Disease: Pseudovaginal Perineoscrotal Hypospadias
0.700 CausalMutation CLINVAR Clinical characterization and analysis of the SRD5A2 gene in six Korean patients with 5alpha-reductase type 2 deficiency. 20190539 2010
Pseudovaginal Perineoscrotal Hypospadias
CUI: C0268297
Disease: Pseudovaginal Perineoscrotal Hypospadias
0.700 CausalMutation CLINVAR Identification of mutations in the SRD5A2 gene in Thai patients with male pseudohermaphroditism. 18314109 2008
Pseudovaginal Perineoscrotal Hypospadias
CUI: C0268297
Disease: Pseudovaginal Perineoscrotal Hypospadias
0.700 CausalMutation CLINVAR Giant seminoma in a patient with 5 alpha-reductase type 2 deficiency. 12576851 2003
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
Hypospadias
CUI: C0848558
Disease: 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