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: rs1060503735
rs1060503735
BAP1 ; PHF7
2 1.000 3 52409716 frameshift variant A/- delins 0.700 1.000 2 2011 2013