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: rs763296857
rs763296857
Entrez Id: 6716
Gene Symbol: SRD5A2
SRD5A2
CUI: C0268297
Disease:
Pseudovaginal Perineoscrotal Hypospadias 		0.710 GeneticVariation BEFREE Two cases were affected with androgen insensitivity syndrome (AIS) (missense mutation on exon 7, position c.3637 G>A: p.R841H and position c.3610 G>A: p.R832Q), one case was affected with 5-alpha-reductase deficiency type 2 (missense mutation at c.578A>G: p.N193S on exon 4), and 22 cases (88%) did not demonstrate AIS or 5α-RD2 gene abnormality. 30815925 2019
dbSNP: rs763296857
rs763296857
Entrez Id: 6716
Gene Symbol: SRD5A2
SRD5A2
CUI: C0268297
Disease:
Pseudovaginal Perineoscrotal Hypospadias 		C 0.710 CausalMutation CLINVAR