Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs9332967
rs9332967
SRD5A2
0.790 0.200 2 31526224 missense variant C/T snv 2.3E-04 1.1E-04
CUI: C0268297
Disease: Pseudovaginal Perineoscrotal Hypospadias
Pseudovaginal Perineoscrotal Hypospadias 		0.800 1.000 16 1992 2005
dbSNP: rs9332967
rs9332967
SRD5A2
0.790 0.200 2 31526224 missense variant C/T snv 2.3E-04 1.1E-04
CUI: C1291316
Disease: Deficiency of reductase
Deficiency of reductase 		0.020 1.000 2 2008 2009
dbSNP: rs9332967
rs9332967
SRD5A2
0.790 0.200 2 31526224 missense variant C/T snv 2.3E-04 1.1E-04
CUI: C1691215
Disease: Penile hypospadias
Penile hypospadias 		0.020 1.000 2 2017 2019
dbSNP: rs9332967
rs9332967
SRD5A2
0.790 0.200 2 31526224 missense variant C/T snv 2.3E-04 1.1E-04
CUI: C0848558
Disease: Hypospadias
Hypospadias 		0.020 1.000 2 2017 2019
dbSNP: rs9332967
rs9332967
SRD5A2
0.790 0.200 2 31526224 missense variant C/T snv 2.3E-04 1.1E-04
CUI: C0033804
Disease: Pseudohermaphroditism
Pseudohermaphroditism 		0.010 1.000 1 2008 2008
dbSNP: rs9332967
rs9332967
SRD5A2
0.790 0.200 2 31526224 missense variant C/T snv 2.3E-04 1.1E-04
CUI: C0452148
Disease: Hypospadias, perineal
Hypospadias, perineal 		0.010 1.000 1 2019 2019
dbSNP: rs9332967
rs9332967
SRD5A2
0.790 0.200 2 31526224 missense variant C/T snv 2.3E-04 1.1E-04
CUI: C0266362
Disease: Ambiguous Genitalia
Ambiguous Genitalia 		0.010 1.000 1 2008 2008