Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs9332960
rs9332960
SRD5A2
A 0.700 CausalMutation CLINVAR A novel SRD5A2 mutation with loss of function identified in Chinese patients with hypospadias. 21540559

2011
dbSNP: rs9332960
rs9332960
SRD5A2
A 0.700 CausalMutation CLINVAR Clinical characterization and analysis of the SRD5A2 gene in six Korean patients with 5alpha-reductase type 2 deficiency. 20190539

2010
dbSNP: rs9332960
rs9332960
SRD5A2
A 0.700 CausalMutation CLINVAR Identification of mutations in the SRD5A2 gene in Thai patients with male pseudohermaphroditism. 18314109

2008
dbSNP: rs9332960
rs9332960
SRD5A2
A 0.700 CausalMutation CLINVAR Giant seminoma in a patient with 5 alpha-reductase type 2 deficiency. 12576851

2003