Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267599353
rs267599353
SRD5A2
CUI: C0268297
Disease: Pseudovaginal Perineoscrotal Hypospadias
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
SRD5A2
CUI: C0268297
Disease: Pseudovaginal Perineoscrotal Hypospadias
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