Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1131691014 0.439 0.800 17 7676154 frameshift variant -/C ins 214
rs113488022 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 490
rs9266150 0.925 0.040 6 31356368 missense variant A/C;G;T snv 0.12; 7.9E-05; 3.8E-04 3
rs1695 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 188
rs1801394 0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45 101
rs5498 0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37 99
rs2297235 0.752 0.320 10 104274733 5 prime UTR variant A/G snv 0.22 11
rs3024496 0.827 0.200 1 206768519 3 prime UTR variant A/G snv 0.43 6
rs1133400 1.000 0.080 10 132645884 missense variant A/G snv 0.22 0.18 4
rs1045642 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 214
rs121913682
KIT
0.605 0.400 4 54733167 missense variant A/G;T snv 52
rs156697 0.672 0.560 10 104279427 missense variant A/G;T snv 0.35 25
rs1650697 0.925 0.120 5 80654962 missense variant A/G;T snv 0.86 3
rs3790064
PNP
14 20472910 non coding transcript exon variant A/G;T snv 1
rs121913507
KIT
0.614 0.400 4 54733155 missense variant A/T snv 49
rs4925 0.677 0.560 10 104263031 missense variant C/A snv 0.25 0.23 28
rs1043673 19 55000864 missense variant C/A snv 0.37 0.39 2
rs121913529 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 144
rs769255883
XPA
1.000 0.160 9 97689592 stop gained C/A;G;T snv 1.2E-05; 5.6E-05 2
rs897453 1.000 0.080 17 17522317 missense variant C/A;G;T snv 8.0E-06; 0.34 2
rs9989407 16 68730609 intergenic variant C/A;G;T snv 1
rs1052133 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 147
rs12919719 16 68788438 intron variant C/G snv 0.25 1
rs6504649 0.882 0.280 17 50360095 missense variant C/G;T snv 0.33; 3.2E-05 4
rs7196495 16 68739957 intron variant C/G;T snv 1