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: rs1555036394
rs1555036394
2 1.000 11 118473352 frameshift variant A/- del 0.700 1.000 22 1989 2017
dbSNP: rs1555036436
rs1555036436
2 1.000 11 118473420 frameshift variant C/- delins 0.700 1.000 22 1989 2017
dbSNP: rs1555039242
rs1555039242
2 1.000 11 118481728 frameshift variant GA/- delins 0.700 1.000 22 1989 2017
dbSNP: rs1555046428
rs1555046428
2 1.000 11 118503078 frameshift variant -/CAGAT delins 0.700 1.000 22 1989 2017
dbSNP: rs1555052879
rs1555052879
2 1.000 11 118519746 frameshift variant C/- delins 0.700 1.000 22 1989 2017
dbSNP: rs782297546
rs782297546
5 0.925 0.240 11 118473471 frameshift variant C/-;CC delins 0.700 1.000 22 1989 2017
dbSNP: rs886041896
rs886041896
2 1.000 11 118494360 stop gained A/T snv 0.700 1.000 22 1989 2017