Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs2735940 0.689 0.400 5 1296371 upstream gene variant A/G snv 0.49 14
rs3212986 0.620 0.400 19 45409478 stop gained C/A;G;T snv 0.29; 4.3E-06; 4.3E-06 42
rs1042028 0.658 0.440 16 28606193 missense variant C/T snv 0.22 0.30 30
rs1143623 0.677 0.440 2 112838252 upstream gene variant C/G snv 0.24 28
rs3803662 0.662 0.440 16 52552429 non coding transcript exon variant A/G snv 0.63 24
rs4759314 0.649 0.440 12 53968051 non coding transcript exon variant G/A snv 0.93 31
rs6983267 0.578 0.440 8 127401060 non coding transcript exon variant G/T snv 0.37 55
rs9282861 0.658 0.440 16 28606193 missense variant C/T snv 31
rs12255372 0.667 0.480 10 113049143 intron variant G/A;T snv 26
rs12826786 0.683 0.480 12 53961717 upstream gene variant C/T snv 0.38 26
rs12917 0.605 0.480 10 129708019 missense variant C/T snv 0.14 0.14 45
rs1760944 0.672 0.480 14 20454990 non coding transcript exon variant T/C;G snv 26
rs217727 0.641 0.480 11 1995678 non coding transcript exon variant G/A snv 0.20 32
rs746702110 0.627 0.480 3 9756778 missense variant C/T snv 1.2E-05 2.8E-05 38
rs920778 0.633 0.480 12 53966448 intron variant G/A snv 0.57 36
rs4919510 0.641 0.520 10 100975021 mature miRNA variant C/G snv 0.27 0.27 32
rs1057519847 0.570 0.560 7 55191821 missense variant CT/AG mnv 72
rs1057519848 0.570 0.560 7 55191822 missense variant TG/GT mnv 72
rs121434568 0.568 0.560 7 55191822 missense variant T/A;G snv 73
rs17655 0.597 0.560 13 102875652 missense variant G/C snv 0.28 0.30 52
rs2228000
XPC
0.585 0.560 3 14158387 missense variant G/A snv 0.24 0.21 53
rs351855 0.597 0.560 5 177093242 missense variant G/A snv 0.33 0.26 55
rs3834129 0.627 0.560 2 201232809 upstream gene variant AGTAAG/- del 0.48 38
rs5275 0.583 0.560 1 186673926 3 prime UTR variant A/G;T snv 55
rs895819 0.623 0.560 19 13836478 non coding transcript exon variant T/A;C;G snv 0.34 0.38 46