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: rs1559588632
rs1559588632
BAP1
1 1.000 0.080 3 52405266 splice acceptor variant CATGAACCAGCCGCCTCCTCTGCACCATCTGAGACAG/- delins 0.700 0
dbSNP: rs387906849
rs387906849
BAP1
2 0.925 0.080 3 52405897 stop gained G/A snv 0.010 1.000 1 2011 2011