Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs2304277 0.776 0.280 3 9759396 non coding transcript exon variant G/A snv 0.26 8
rs1052133 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 147
rs746702110 0.627 0.480 3 9756778 missense variant C/T snv 1.2E-05 2.8E-05 38
rs200389141
BLM
0.776 0.320 15 90761015 stop gained C/A;T snv 4.1E-06; 1.4E-04 1.7E-04 11
rs587776650
NBN
0.790 0.280 8 89971214 frameshift variant GTTTT/- delins 2.0E-04 11
rs2032582 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 97
rs1046428 0.776 0.200 14 77327940 missense variant T/A;C snv 4.0E-06; 0.81 8
rs3177427 0.827 0.160 14 77326864 stop gained G/A;C;T snv 5
rs1042522 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 242
rs1131691014 0.439 0.800 17 7676154 frameshift variant -/C ins 214
rs878854066 0.439 0.800 17 7676153 missense variant GG/AC mnv 213
rs121913343 0.611 0.520 17 7673803 missense variant G/A;C;T snv 1.2E-05 44
rs1048943 0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02 88
rs56307747 0.776 0.160 7 74059952 missense variant G/A;C snv 4.0E-06 8
rs764918809 0.827 0.160 12 68839337 missense variant T/C snv 4.0E-06 6
rs61755649 0.882 0.160 14 67885891 missense variant C/T snv 6.8E-05 4.9E-05 3
rs1695 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 188
rs2240308 0.701 0.360 17 65558473 missense variant G/A snv 0.47 0.39 18
rs1271572 0.708 0.400 14 64295199 intron variant A/C;T snv 16
rs137852986 0.732 0.440 17 61716051 stop gained G/A snv 1.7E-04 1.5E-04 13
rs63750695 0.851 0.280 7 5978675 frameshift variant AAGTT/- delins 6
rs587782818 0.790 0.160 17 58703325 stop gained C/G snv 6.4E-05; 4.0E-06 1.4E-05 8
rs2273535 0.645 0.360 20 56386485 missense variant A/C;T snv 0.28 38
rs4759314 0.649 0.440 12 53968051 non coding transcript exon variant G/A snv 0.93 31
rs1899663 0.683 0.280 12 53967210 intron variant C/A snv 0.28 22