Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs767564684
rs767564684
SRD5A2
CUI: C0268297
Disease: Pseudovaginal Perineoscrotal Hypospadias
Pseudovaginal Perineoscrotal Hypospadias 		T 0.800 CausalMutation CLINVAR Molecular analysis of the SRD5A2 in 46,XY subjects with incomplete virilization: the P212R substitution of the steroid 5alpha-reductase 2 may constitute an ancestral founder mutation in Mexican patients. 20019388

2011
dbSNP: rs767564684
rs767564684
SRD5A2
CUI: C0268297
Disease: Pseudovaginal Perineoscrotal Hypospadias
Pseudovaginal Perineoscrotal Hypospadias 		T 0.800 CausalMutation CLINVAR SRD5A2 gene mutations and polymorphisms in Spanish 46,XY patients with a disorder of sex differentiation. 21631525

2011
dbSNP: rs767564684
rs767564684
SRD5A2
CUI: C0268297
Disease: Pseudovaginal Perineoscrotal Hypospadias
Pseudovaginal Perineoscrotal Hypospadias 		T 0.800 CausalMutation CLINVAR Molecular characterization of 6 unrelated Italian patients with 5alpha-reductase type 2 deficiency. 17609295

2008
dbSNP: rs767564684
rs767564684
SRD5A2
CUI: C0268297
Disease: Pseudovaginal Perineoscrotal Hypospadias
Pseudovaginal Perineoscrotal Hypospadias 		T 0.800 CausalMutation CLINVAR Natural mutagenesis study of the human steroid 5 alpha-reductase 2 isozyme. 8110760

1994
dbSNP: rs767564684
rs767564684
SRD5A2
CUI: C0268297
Disease: Pseudovaginal Perineoscrotal Hypospadias
Pseudovaginal Perineoscrotal Hypospadias 		T 0.800 CausalMutation CLINVAR Molecular genetics of steroid 5 alpha-reductase 2 deficiency. 1522235

1992
dbSNP: rs767564684
rs767564684
SRD5A2
CUI: C0268297
Disease: Pseudovaginal Perineoscrotal Hypospadias
Pseudovaginal Perineoscrotal Hypospadias 		0.800 GeneticVariation UNIPROT