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: rs398122840
rs398122840
BAX
2 0.925 0.160 19 48955714 frameshift variant GGGGGGG/-;GGGGGG;GGGGGGGG delins 0.700 0