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: rs61750397
rs61750397
Entrez Id: 6716
Gene Symbol: SRD5A2
SRD5A2
CUI: C0268297
Disease:
Pseudovaginal Perineoscrotal Hypospadias 		G 0.700 GeneticVariation CLINVAR Brief report: the molecular basis of steroid 5 alpha-reductase deficiency in a large Dominican kindred. 1406794 1992
dbSNP: rs61750397
rs61750397
Entrez Id: 6716
Gene Symbol: SRD5A2
SRD5A2
CUI: C0268297
Disease:
Pseudovaginal Perineoscrotal Hypospadias 		G 0.700 GeneticVariation CLINVAR Deletion of steroid 5 alpha-reductase 2 gene in male pseudohermaphroditism. 1944596 1991