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: rs104894201
rs104894201
12 0.763 0.280 11 111908934 missense variant T/C snv 0.700 0
dbSNP: rs281865141
rs281865141
2 0.925 0.080 11 111911665 frameshift variant G/- delins 0.700 0
dbSNP: rs281865142
rs281865142
2 0.925 0.080 11 111908949 frameshift variant A/- del 4.0E-06 1.4E-05 0.700 0