rs121434246, SRD5A2

N. diseases: 2
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 0.925 0.200 2 31533704 missense variant C/T snv 2.3E-05 2.1E-05 0.800 1.000 16 1992 2005
pseudohermaphrodite (non-specific)
CUI: C0555232
Disease: pseudohermaphrodite (non-specific)
2 0.925 0.200 2 31533704 missense variant C/T snv 2.3E-05 2.1E-05 0.010 1.000 1 2004 2004