Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1276519904 0.645 0.520 1 226071445 missense variant A/G snv 63
rs121913279 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 45
rs886041065 0.677 0.600 2 25743913 frameshift variant G/- delins 43
rs397514698 0.667 0.400 9 77797577 missense variant C/T snv 41
rs121909231 0.667 0.600 10 87961095 stop gained C/A;T snv 29
rs80338903 0.701 0.360 1 216247095 frameshift variant C/- del 7.6E-04 5.4E-04 25
rs587784177 0.790 0.280 5 177283827 missense variant G/A snv 20
rs1565706229 0.851 0.120 11 86277110 missense variant T/C snv 18
rs1057519927 0.716 0.240 3 179218295 missense variant A/C;G;T snv 18
rs549625604 0.752 0.280 12 76347713 frameshift variant -/A delins 6.0E-04 13
rs142441643 0.732 0.320 5 223509 stop gained C/T snv 2.0E-04 2.4E-04 12
rs768933093 0.807 0.240 12 76348214 missense variant G/A snv 4.8E-05 4.9E-05 10
rs387906309 0.925 0.160 15 72346579 frameshift variant -/GATA delins 4.0E-06; 8.0E-04 4.5E-04 10
rs61752992 0.807 0.120 X 154030621 splice acceptor variant TGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGC/- delins 9
rs867262025 0.790 0.360 3 179221146 missense variant G/A snv 9
rs558269137 0.851 0.160 1 152312601 frameshift variant ACTG/- delins 1.3E-02 8
rs587777308 0.763 0.040 5 161873196 missense variant G/A snv 8
rs1057515572 0.882 0.200 7 5987033 frameshift variant GC/ACT delins 8
rs1060500126 0.790 0.160 10 87933223 missense variant A/C;G snv 8
rs767350733 0.882 0.120 2 201724392 stop gained G/A snv 2.0E-05 7
rs80359636 0.851 0.240 13 32354921 frameshift variant CT/- delins 2.8E-05 7
rs786204849 0.882 0.200 11 65885181 stop gained G/A snv 7
rs1566446604 0.882 0.080 14 21431511 frameshift variant GAGAGCTTGGCAGTCCA/- delins 6
rs111033178 0.851 0.200 11 77190108 missense variant G/A snv 7.5E-05 5.6E-05 6
rs567573386 0.882 0.120 16 56484820 stop gained G/A snv 3.2E-05 1.4E-05 5