Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs6672420 0.827 0.120 1 24964519 missense variant A/T snv 0.56 0.50 6
rs689466 0.637 0.640 1 186681619 upstream gene variant T/C snv 0.17 33
rs699
AGT
0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 134
rs1143623 0.677 0.440 2 112838252 upstream gene variant C/G snv 0.24 29
rs1143627 0.605 0.760 2 112836810 5 prime UTR variant G/A snv 0.56 47
rs12615966 0.882 0.080 2 104762499 upstream gene variant C/T snv 0.14 3
rs16944 0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57 92
rs2241880 0.627 0.600 2 233274722 missense variant A/G snv 0.45 0.44 37
rs2292832 0.605 0.640 2 240456086 non coding transcript exon variant T/A;C snv 0.59 46
rs3783553 0.667 0.480 2 112774138 3 prime UTR variant -/TGAA delins 26
rs3834129 0.627 0.560 2 201232809 upstream gene variant AGTAAG/- del 0.48 38
rs1050450 0.623 0.600 3 49357401 missense variant G/A snv 0.28 0.30 43
rs1052133 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 147
rs1800734 0.653 0.400 3 36993455 5 prime UTR variant G/A snv 0.22 30
rs1801282 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 131
rs1805192 0.510 0.840 3 12379739 missense variant C/G snv 121
rs2228000
XPC
0.585 0.560 3 14158387 missense variant G/A snv 0.24 0.21 53
rs266729 0.637 0.560 3 186841685 upstream gene variant C/A;G;T snv 37
rs4135385 0.742 0.320 3 41237949 non coding transcript exon variant A/G snv 0.19 14
rs56250509 0.790 0.160 3 37014530 missense variant T/C snv 2.0E-05 10
rs746702110 0.627 0.480 3 9756778 missense variant C/T snv 1.2E-05 2.8E-05 38
rs822395 0.776 0.240 3 186849018 intron variant C/A;G snv 10
rs1229984 0.570 0.560 4 99318162 missense variant T/C;G snv 0.90 83
rs2069762
IL2
0.672 0.560 4 122456825 upstream gene variant A/C snv 0.24 23
rs28362491 0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins 56