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: rs104894419
rs104894419
8 0.807 0.360 13 108208829 stop gained G/A snv 9.9E-05 7.0E-05 0.700 1.000 2 2001 2014
dbSNP: rs587779349
rs587779349
8 0.776 0.280 13 32380040 frameshift variant C/- delins 0.700 1.000 1 2014 2014
dbSNP: rs587779351
rs587779351
6 0.851 0.200 5 83105046 missense variant T/C snv 1.6E-05 0.700 1.000 1 2014 2014
dbSNP: rs759838407
rs759838407
3 0.925 0.160 13 108209756 frameshift variant AG/-;AGAG delins 0.700 1.000 1 2014 2014
dbSNP: rs137853219
rs137853219
1 1.000 0.120 17 63918458 stop gained C/T snv 0.700 0
dbSNP: rs397514487
rs397514487
3 0.882 0.200 3 52149850 stop gained G/A snv 7.0E-06 0.700 0
dbSNP: rs587777614
rs587777614
3 0.882 0.160 10 68416703 frameshift variant G/- delins 0.700 0
dbSNP: rs587779348
rs587779348
3 0.882 0.160 2 46623765 frameshift variant T/- delins 0.700 0
dbSNP: rs587779356
rs587779356
3 0.882 0.160 2 46619676 frameshift variant -/GG delins 0.700 0