SRD5A2, steroid 5 alpha-reductase 2, 6716

N. diseases: 106; N. variants: 55
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: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X
Nutritional and Metabolic Diseases 0.020 1.000 2 2017 2018
dbSNP: rs12470143
rs12470143
0.925 0.080 2 31538488 intron variant C/T snv 0.42
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X
Nutritional and Metabolic Diseases 0.010 1.000 1 2017 2017