Gene: BAP1 ×
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: rs869025212
rs869025212
BAP1
6 0.827 0.200 3 52403428 frameshift variant G/- delins 0.700 1.000 1 2015 2015
dbSNP: rs375129361
rs375129361
BAP1
2 0.925 0.120 3 52408056 missense variant T/A;C snv 4.1E-06 0.010 1.000 1 2013 2013