CTSB, cathepsin B, 1508

N. diseases: 304; N. variants: 17
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: rs12338
rs12338
0.807 0.200 8 11853379 missense variant G/A;C;T snv 8.0E-06; 0.38; 2.4E-05
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2010 2010
dbSNP: rs776941569
rs776941569
0.851 0.160 8 11853378 frameshift variant AG/- del 1.6E-04 1.5E-04
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2010 2010