Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057519848 0.570 0.560 7 55191822 missense variant TG/GT mnv 72
rs10511729 0.742 0.240 9 23557229 intron variant T/G snv 0.35 11
rs1800872 0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69 119
rs2240688 0.790 0.160 4 15968726 3 prime UTR variant T/G snv 0.22 7
rs2279744 0.605 0.640 12 68808800 intron variant T/G snv 0.31 48
rs397507444 0.405 0.880 1 11794407 missense variant T/G snv 306
rs1760944 0.672 0.480 14 20454990 non coding transcript exon variant T/C;G snv 26
rs376040996
XPA
0.790 0.120 9 97687210 missense variant T/C;G snv 1.2E-05; 2.0E-05 7
rs1047768 0.695 0.320 13 102852167 synonymous variant T/C snv 0.52 0.59 20
rs1047972 0.716 0.240 20 56386407 missense variant T/C snv 0.85 0.84 19
rs1051740 0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27 56
rs1800896 0.507 0.800 1 206773552 intron variant T/C snv 0.41 113
rs25487 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 205
rs4912913 0.827 0.120 5 143438741 upstream gene variant T/C snv 0.48 5
rs662 0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 157
rs667282 0.790 0.120 15 78571130 intron variant T/C snv 0.28 13
rs689466 0.637 0.640 1 186681619 upstream gene variant T/C snv 0.17 33
rs121434568 0.568 0.560 7 55191822 missense variant T/A;G snv 73
rs13181 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 134
rs1048943 0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02 88
rs1130409 0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 72
rs895819 0.623 0.560 19 13836478 non coding transcript exon variant T/A;C;G snv 0.34 0.38 46
rs2292832 0.605 0.640 2 240456086 non coding transcript exon variant T/A;C snv 0.59 46
rs878854066 0.439 0.800 17 7676153 missense variant GG/AC mnv 213
rs28360071 0.708 0.240 5 83142293 intron variant GATGAGGAAACTAACTCTCAGTGGTGTTTA/- delins 0.48 18