rs121434245, SRD5A2

N. diseases: 3
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Pseudovaginal Perineoscrotal Hypospadias
CUI: C0268297
Disease: Pseudovaginal Perineoscrotal Hypospadias
42 0.882 0.200 2 31580737 missense variant A/T snv 0.800 1.000 16 1992 2005
Deficiency of reductase
CUI: C1291316
Disease: Deficiency of reductase
8 0.882 0.200 2 31580737 missense variant A/T snv 0.010 1.000 1 2010 2010
Male Pseudohermaphroditism
CUI: C0238395
Disease: Male Pseudohermaphroditism
4 0.882 0.200 2 31580737 missense variant A/T snv 0.010 1.000 1 2006 2006