SRD5A2, steroid 5 alpha-reductase 2, 6716

N. diseases: 106; N. variants: 55
Disease: Pseudovaginal Perineoscrotal Hypospadias ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267599353
rs267599353
Entrez Id: 6716
Gene Symbol: SRD5A2
SRD5A2
CUI: C0268297
Disease:
Pseudovaginal Perineoscrotal Hypospadias 		A 0.700 CausalMutation CLINVAR The earlier described mutation (c.307c > T [p.R103X]) in the SRD5A2 gene causing a 46,XY female phenotype. 22876553 2012
dbSNP: rs267599353
rs267599353
Entrez Id: 6716
Gene Symbol: SRD5A2
SRD5A2
CUI: C0268297
Disease:
Pseudovaginal Perineoscrotal Hypospadias 		A 0.700 CausalMutation CLINVAR A novel homozygous disruptive mutation in the SRD5A2-gene in a partially virilized patient with 5alpha-reductase deficiency. 11869378 2002