Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs10069690 0.595 0.560 5 1279675 intron variant C/T snv 0.36 53
rs10505477 0.658 0.400 8 127395198 intron variant A/G snv 0.40 31
rs13281615 0.716 0.360 8 127343372 intron variant A/G snv 0.43 18
rs1469713 0.827 0.160 19 19417997 intron variant A/G snv 0.44 7
rs1544410
VDR
0.542 0.760 12 47846052 intron variant C/A;G;T snv 78
rs1799750 0.592 0.760 11 102799765 intron variant C/- delins 0.50 48
rs1899663 0.683 0.280 12 53967210 intron variant C/A snv 0.28 22
rs5013329 0.827 0.160 1 46349419 intron variant C/T snv 0.23 6
rs757210 0.807 0.160 17 37736525 intron variant C/G;T snv 6
rs7937840 0.807 0.200 11 62126500 intron variant C/T snv 0.20 7
rs920778 0.633 0.480 12 53966448 intron variant G/A snv 0.57 36
rs9375701 0.827 0.160 6 130062912 intron variant C/T snv 0.53 6
rs2660753 0.790 0.240 3 87061524 intergenic variant T/C snv 0.76 9
rs11571833 0.608 0.360 13 32398489 stop gained A/T snv 6.6E-03 6.0E-03 43
rs13181 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 134
rs137852986 0.732 0.440 17 61716051 stop gained G/A snv 1.7E-04 1.5E-04 13
rs200389141
BLM
0.776 0.320 15 90761015 stop gained C/A;T snv 4.1E-06; 1.4E-04 1.7E-04 11
rs34301344 0.689 0.400 13 49630893 stop gained G/A snv 9.7E-03 7.9E-03 22
rs755100942 0.724 0.320 13 49630894 stop gained G/A snv 4.2E-06 17
rs80358721 0.724 0.320 13 32339320 stop gained C/A;G;R snv 4.2E-06 14
rs1042522 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 242
rs1045485 0.637 0.480 2 201284866 missense variant G/A;C;T snv 4.0E-06; 9.0E-02 34
rs1048943 0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02 88
rs1052133 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 147
rs1056836 0.581 0.680 2 38071060 missense variant G/C snv 0.51 58