Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057519697
ALK
0.776 0.120 2 29220830 missense variant A/C snv 10
rs1131691014 0.439 0.800 17 7676154 frameshift variant -/C ins 213
rs121913377 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 480
rs12826786 0.683 0.480 12 53961717 upstream gene variant C/T snv 0.38 26
rs1760944 0.672 0.480 14 20454990 non coding transcript exon variant T/C;G snv 26
rs1899663 0.683 0.280 12 53967210 intron variant C/A snv 0.28 22
rs2298881 0.653 0.400 19 45423658 intron variant C/A;T snv 25
rs3136817 0.732 0.280 14 20456275 intron variant T/C snv 0.23 12
rs34330 0.724 0.280 12 12717761 5 prime UTR variant T/C snv 0.70 14
rs397507444 0.405 0.880 1 11794407 missense variant T/G snv 306
rs4081134 0.790 0.160 14 100855451 non coding transcript exon variant G/A snv 0.29 7
rs78378222 0.662 0.360 17 7668434 3 prime UTR variant T/G snv 8.3E-03 22
rs873601 0.677 0.360 13 102875987 3 prime UTR variant G/A snv 0.59 25
rs878854066 0.439 0.800 17 7676153 missense variant GG/AC mnv 213
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-06 484
rs13181 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 134
rs1130409 0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 72
rs1800975
XPA
0.701 0.360 9 97697296 5 prime UTR variant T/C;G snv 0.63; 4.5E-06; 4.5E-06 19
rs538874513 0.807 0.120 1 3730017 missense variant C/G;T snv 8.2E-06; 8.2E-06 6
rs25489 0.550 0.720 19 43552260 missense variant C/G;T snv 8.5E-06; 7.1E-02 78
rs369576054 0.807 0.120 4 85994925 missense variant C/T snv 2.8E-05 4.9E-05 6
rs121917887 0.790 0.120 17 51161744 missense variant A/G snv 6.0E-05 7.0E-05 10
rs1799782 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 151
rs1805087
MTR
0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 135