rs121434250, SRD5A2

N. diseases: 7
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 0.790 0.200 2 31529419 missense variant C/G;T snv 1.4E-04 1.5E-04 0.800 1.000 16 1992 2005
Displacement of the external urethral meatus
CUI: C4020961
Disease: Displacement of the external urethral meatus
1 0.790 0.200 2 31529419 missense variant C/G;T snv 1.4E-04 1.5E-04 0.700 0
Hypospadias
CUI: C0848558
Disease: Hypospadias
80 0.790 0.200 2 31529419 missense variant C/G;T snv 1.4E-04 1.5E-04 0.010 1.000 1 2019 2019
Hypospadias, perineal
CUI: C0452148
Disease: Hypospadias, perineal
15 0.790 0.200 2 31529419 missense variant C/G;T snv 1.4E-04 1.5E-04 0.010 1.000 1 2019 2019
Micropenis
CUI: C4551492
Disease: Micropenis
21 0.790 0.200 2 31529419 missense variant C/G;T snv 1.4E-04 1.5E-04 0.010 1.000 1 2010 2010
Penile hypospadias
CUI: C1691215
Disease: Penile hypospadias
83 0.790 0.200 2 31529419 missense variant C/G;T snv 1.4E-04 1.5E-04 0.010 1.000 1 2019 2019
Penis agenesis
CUI: C1387005
Disease: Penis agenesis
11 0.790 0.200 2 31529419 missense variant C/G;T snv 1.4E-04 1.5E-04 0.010 1.000 1 2010 2010