Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1217691063 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs1801133 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 169
rs1805087
MTR
0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 135
rs397507444 0.405 0.880 1 11794407 missense variant T/G snv 306
rs538874513 0.807 0.120 1 3730017 missense variant C/G;T snv 8.2E-06; 8.2E-06 6
rs1057519697
ALK
0.776 0.120 2 29220830 missense variant A/C snv 10
rs1052133 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 147
rs2228000
XPC
0.585 0.560 3 14158387 missense variant G/A snv 0.24 0.21 53
rs369576054 0.807 0.120 4 85994925 missense variant C/T snv 2.8E-05 4.9E-05 6
rs113488022 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 484
rs121913377 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 480
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
rs217727 0.641 0.480 11 1995678 non coding transcript exon variant G/A snv 0.20 32
rs12826786 0.683 0.480 12 53961717 upstream gene variant C/T snv 0.38 26
rs1899663 0.683 0.280 12 53967210 intron variant C/A snv 0.28 22
rs34330 0.724 0.280 12 12717761 5 prime UTR variant T/C snv 0.70 14
rs1047768 0.695 0.320 13 102852167 synonymous variant T/C snv 0.52 0.59 20
rs873601 0.677 0.360 13 102875987 3 prime UTR variant G/A snv 0.59 25
rs1130409 0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 72
rs1760944 0.672 0.480 14 20454990 non coding transcript exon variant T/C;G snv 26
rs3136817 0.732 0.280 14 20456275 intron variant T/C snv 0.23 12
rs4081134 0.790 0.160 14 100855451 non coding transcript exon variant G/A snv 0.29 7
rs1042522 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 242
rs1131691014 0.439 0.800 17 7676154 frameshift variant -/C ins 213
rs121917887 0.790 0.120 17 51161744 missense variant A/G snv 6.0E-05 7.0E-05 10