Gene: CTSB ×
Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs12338
rs12338
CTSB
10 0.807 0.200 8 11853379 missense variant G/A;C;T snv 8.0E-06; 0.38; 2.4E-05 0.020 1.000 2 2006 2008
dbSNP: rs747940576
rs747940576
CTSB
4 0.882 0.120 8 11853351 missense variant T/C snv 4.0E-06 1.4E-05 0.020 1.000 2 2006 2008
dbSNP: rs776941569
rs776941569
CTSB
6 0.851 0.160 8 11853378 frameshift variant AG/- del 1.6E-04 1.5E-04 0.020 1.000 2 2006 2008