CSTB, cystatin B, 1476

N. diseases: 155; N. variants: 14
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: rs545986367
rs545986367
0.882 0.080 21 43774690 stop gained G/A snv 3.2E-05 7.0E-06
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
Nervous System Diseases 0.700 1.000 8 2002 2017