Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057518777 15 25339239 splice acceptor variant -/TGAGATGTAGGTA delins 2
rs1057518800 12 13567228 missense variant C/T snv 2
rs1206736425 1 161626229 missense variant T/C snv 2
rs104894228 0.605 0.560 11 534286 missense variant C/A;G;T snv 48
rs121909224 0.627 0.560 10 87933147 stop gained C/G;T snv 1.2E-05 41
rs121913105 0.653 0.600 4 1806163 missense variant A/C;T snv 30
rs121909231 0.667 0.600 10 87961095 stop gained C/A;T snv 32
rs121909219 0.689 0.400 10 87957915 stop gained C/A;T snv 25
rs34767364
NBN
0.701 0.280 8 89971232 missense variant G/A;C snv 2.5E-03 20
rs28934906 0.716 0.320 X 154031355 missense variant G/A snv 46
rs373145711 0.732 0.520 20 32433408 stop gained C/T snv 2.0E-05 2.8E-05 25
rs80356616 0.732 0.360 11 17387917 missense variant C/T snv 19
rs121913293 0.732 0.360 10 87952142 missense variant C/A;T snv 18
rs28935468 0.732 0.240 X 154030912 missense variant G/A snv 17
rs180177035 0.752 0.280 7 140801502 missense variant T/C snv 35
rs267607048 0.752 0.560 10 110964362 missense variant A/G snv 7.0E-06 16
rs80356624 0.752 0.240 11 17387490 missense variant C/A;T snv 16
rs28933386 0.752 0.400 12 112477719 missense variant A/G snv 1.2E-05 7.0E-06 15
rs121913348 0.763 0.480 7 140781617 missense variant C/A;G;T snv 20
rs1085308043 0.763 0.200 10 87925511 splice acceptor variant A/G;T snv 12
rs869320624 0.776 0.400 1 19220814 frameshift variant AAGG/- delins 1.4E-05 13
rs80356611 0.790 0.240 11 17387943 missense variant C/A;G;T snv 4.0E-06 10
rs1285524167 0.807 0.280 11 17475004 missense variant C/T snv 8.0E-06 8
rs80356618 0.807 0.200 11 17387595 missense variant C/A;T snv 8
rs80356730 0.807 0.120 1 11022418 missense variant A/G snv 8.0E-06 7