Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1136410 0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15 70
rs1217691063 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs1800872 0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69 119
rs397507444 0.405 0.880 1 11794407 missense variant T/G snv 306
rs3834129 0.627 0.560 2 201232809 upstream gene variant AGTAAG/- del 0.48 38
rs1052133 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 147
rs121913279 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 101
rs2228000
XPC
0.585 0.560 3 14158387 missense variant G/A snv 0.24 0.21 53
rs2228001
XPC
0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 60
rs28362491 0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins 56
rs7041
GC
0.576 0.800 4 71752617 missense variant A/C;T snv 0.52; 4.0E-06 64
rs2242652 0.724 0.400 5 1279913 intron variant G/A snv 0.18 16
rs2736098 0.600 0.600 5 1293971 synonymous variant C/T snv 0.29 0.22 48
rs2853676 0.667 0.560 5 1288432 intron variant T/A;C snv 29
rs2910164 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 193
rs36115365 0.807 0.160 5 1313127 upstream gene variant G/A;C;T snv 7
rs401681 0.620 0.640 5 1321972 intron variant C/T snv 0.48 42
rs113488022 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 490
rs121434569 0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05 70
rs121913377 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 480
rs1225976306 0.807 0.160 7 140924673 missense variant C/T snv 9.3E-06 8
rs397517132 0.623 0.280 7 55191846 missense variant A/T snv 48
rs16901979 0.724 0.480 8 127112671 intron variant C/A snv 0.16 17
rs1444669684 0.658 0.480 9 21994285 missense variant C/A;T snv 36
rs3731249 0.683 0.320 9 21970917 missense variant C/A;G;T snv 2.1E-02 23