Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs6983267 0.578 0.440 8 127401060 non coding transcript exon variant G/T snv 0.37 62
rs1045485 0.637 0.480 2 201284866 missense variant G/A;C;T snv 4.0E-06; 9.0E-02 34
rs12255372 0.667 0.480 10 113049143 intron variant G/A;T snv 28
rs12826786 0.683 0.480 12 53961717 upstream gene variant C/T snv 0.38 26
rs2228001
XPC
0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 60
rs2297518 0.658 0.480 17 27769571 missense variant G/A snv 0.18 0.17 30
rs3783553 0.667 0.480 2 112774138 3 prime UTR variant -/TGAA delins 26
rs920778 0.633 0.480 12 53966448 intron variant G/A snv 0.57 36
rs1801278 0.637 0.560 2 226795828 missense variant C/G;T snv 4.0E-06; 5.2E-02 38
rs1979277 0.620 0.560 17 18328782 missense variant G/A snv 0.27 0.31 45
rs351855 0.597 0.560 5 177093242 missense variant G/A snv 0.33 0.26 58
rs895819 0.623 0.560 19 13836478 non coding transcript exon variant T/A;C;G snv 0.34 0.38 46
rs121913500 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 96
rs28934576 0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 78
rs121434592 0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 54
rs2279744 0.605 0.640 12 68808800 intron variant T/G snv 0.31 48
rs4646903 0.630 0.640 15 74719300 downstream gene variant A/G;T snv 0.18 36
rs1056836 0.581 0.680 2 38071060 missense variant G/C snv 0.51 58
rs11549465 0.597 0.680 14 61740839 missense variant C/T snv 8.8E-02 7.7E-02 55
rs1800566 0.576 0.680 16 69711242 missense variant G/A snv 0.25 0.21 59
rs4938723 0.574 0.680 11 111511840 intron variant T/C snv 0.32 60
rs861539 0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 104
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
rs1501299 0.597 0.720 3 186853334 intron variant G/C;T snv 52