rs9332964, SRD5A2

N. diseases: 10
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.
5-Alpha Reductase Deficiency
CUI: C3669122
Disease: 5-Alpha Reductase Deficiency
5 0.763 0.240 2 31529325 missense variant C/T snv 4.7E-04 1.6E-04 0.010 1.000 1 2019 2019
Sex Differentiation Disorders
CUI: C2930619
Disease: Sex Differentiation Disorders
10 0.763 0.240 2 31529325 missense variant C/T snv 4.7E-04 1.6E-04 0.010 1.000 1 2019 2019
Penis agenesis
CUI: C1387005
Disease: Penis agenesis
11 0.763 0.240 2 31529325 missense variant C/T snv 4.7E-04 1.6E-04 0.010 1.000 1 2003 2003
Micropenis
CUI: C4551492
Disease: Micropenis
21 0.763 0.240 2 31529325 missense variant C/T snv 4.7E-04 1.6E-04 0.710 1.000 1 2003 2003
Pseudovaginal Perineoscrotal Hypospadias
CUI: C0268297
Disease: Pseudovaginal Perineoscrotal Hypospadias
42 0.763 0.240 2 31529325 missense variant C/T snv 4.7E-04 1.6E-04 0.810 1.000 23 1992 2019
Hypospadias
CUI: C0848558
Disease: Hypospadias
80 0.763 0.240 2 31529325 missense variant C/T snv 4.7E-04 1.6E-04 0.010 1.000 1 2017 2017
Penile hypospadias
CUI: C1691215
Disease: Penile hypospadias
83 0.763 0.240 2 31529325 missense variant C/T snv 4.7E-04 1.6E-04 0.010 1.000 1 2017 2017
Benign Prostatic Hyperplasia
CUI: C1704272
Disease: Benign Prostatic Hyperplasia
91 0.763 0.240 2 31529325 missense variant C/T snv 4.7E-04 1.6E-04 0.010 1.000 1 2005 2005
Malignant neoplasm of prostate
CUI: C0376358
Disease: Malignant neoplasm of prostate
1082 0.763 0.240 2 31529325 missense variant C/T snv 4.7E-04 1.6E-04 0.020 1.000 2 2001 2005
Prostate carcinoma
CUI: C0600139
Disease: Prostate carcinoma
1168 0.763 0.240 2 31529325 missense variant C/T snv 4.7E-04 1.6E-04 0.020 1.000 2 2001 2005