rs9332967, 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 31526224 missense variant C/T snv 2.3E-04 1.1E-04 0.800 1.000 16 1992 2005
Deficiency of reductase
CUI: C1291316
Disease: Deficiency of reductase
8 0.790 0.200 2 31526224 missense variant C/T snv 2.3E-04 1.1E-04 0.020 1.000 2 2008 2009
Hypospadias
CUI: C0848558
Disease: Hypospadias
80 0.790 0.200 2 31526224 missense variant C/T snv 2.3E-04 1.1E-04 0.020 1.000 2 2017 2019
Penile hypospadias
CUI: C1691215
Disease: Penile hypospadias
83 0.790 0.200 2 31526224 missense variant C/T snv 2.3E-04 1.1E-04 0.020 1.000 2 2017 2019
Ambiguous Genitalia
CUI: C0266362
Disease: Ambiguous Genitalia
14 0.790 0.200 2 31526224 missense variant C/T snv 2.3E-04 1.1E-04 0.010 1.000 1 2008 2008
Hypospadias, perineal
CUI: C0452148
Disease: Hypospadias, perineal
15 0.790 0.200 2 31526224 missense variant C/T snv 2.3E-04 1.1E-04 0.010 1.000 1 2019 2019
Pseudohermaphroditism
CUI: C0033804
Disease: Pseudohermaphroditism
19 0.790 0.200 2 31526224 missense variant C/T snv 2.3E-04 1.1E-04 0.010 1.000 1 2008 2008