Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs121913377 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 480
rs386675647 0.790 0.240 4 69098619 missense variant AT/TC mnv 10
rs1558005340 0.851 0.280 1 160127638 frameshift variant C/- del 4
rs1565532385 0.925 0.080 11 118374964 frameshift variant CA/- del 3
rs148173957 1.000 0.040 5 56078195 intron variant TT/- del 8.2E-02 2
rs1562927768 0.790 0.080 7 105101476 frameshift variant AAAGA/- delins 15
rs759317757 0.807 0.280 8 91078416 frameshift variant TTAAC/- delins 12
rs796051881 0.807 0.440 12 7202274 frameshift variant -/A delins 9
rs1558008455 0.851 0.280 1 160135284 frameshift variant GT/- delins 4
rs61751364 0.882 0.120 X 154030944 frameshift variant CGGAT/- delins 4
rs886039798 0.925 0.120 11 66529902 frameshift variant -/T delins 4
rs372292910 1.000 0.040 5 141122905 frameshift variant A/-;AA delins 1.7E-04 3
rs730882200 0.882 0.040 20 48953604 frameshift variant -/C delins 3
rs1373040226 1.000 0.040 5 97027769 frameshift variant -/G delins 1
rs1553456695 1.000 0.040 2 156329859 frameshift variant -/C delins 1
rs71547482 1.000 0.040 6 103600058 intergenic variant -/TGCAATCT delins 0.11 1
rs1217691063 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs113488022 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 490
rs397507444 0.405 0.880 1 11794407 missense variant T/G snv 306
rs6265 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 272
rs4680 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 249
rs759834365 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 237
rs4986790 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 223
rs1045642 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 214
rs2910164 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 193