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: rs1569118680
rs1569118680
2 0.925 0.080 X 5903423 frameshift variant TC/- delins 0.700 0
dbSNP: rs1569118853
rs1569118853
2 0.925 X 5903492 frameshift variant -/A delins 0.700 0
dbSNP: rs756651509
rs756651509
1 1.000 X 6151166 stop gained G/A snv 0.700 0