SRD5A2, steroid 5 alpha-reductase 2, 6716

N. diseases: 106; N. variants: 55
Disease: Benign Prostatic Hyperplasia ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs523349
rs523349 		0.689 0.440 2 31580636 missense variant G/A;C;T snv 0.66; 4.9E-06
CUI: C1704272
Disease: Benign Prostatic Hyperplasia
Benign Prostatic Hyperplasia 		Male Urogenital Diseases 0.080 0.875 8 2002 2017
dbSNP: rs9282858
rs9282858 		0.716 0.320 2 31580756 missense variant C/T snv 1.8E-02 2.1E-02
CUI: C1704272
Disease: Benign Prostatic Hyperplasia
Benign Prostatic Hyperplasia 		Male Urogenital Diseases 0.060 0.667 6 2002 2017
dbSNP: rs12470143
rs12470143 		0.925 0.080 2 31538488 intron variant C/T snv 0.42
CUI: C1704272
Disease: Benign Prostatic Hyperplasia
Benign Prostatic Hyperplasia 		Male Urogenital Diseases 0.010 1.000 1 2017 2017
dbSNP: rs9332964
rs9332964 		0.763 0.240 2 31529325 missense variant C/T snv 4.7E-04 1.6E-04
CUI: C1704272
Disease: Benign Prostatic Hyperplasia
Benign Prostatic Hyperplasia 		Male Urogenital Diseases 0.010 1.000 1 2005 2005