Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs8175347 0.708 0.400 2 233760234 intron variant TATA/-;TA;TATATA;TATATATA;TATATATATA;TATATATATATA delins 16
rs1042028 0.658 0.440 16 28606193 missense variant C/T snv 0.22 0.30 30
rs2234922 0.630 0.440 1 225838705 missense variant A/G;T snv 0.19; 2.8E-05 42
rs603965 0.732 0.440 11 69648142 splice region variant G/A snv 14
rs6983267 0.578 0.440 8 127401060 non coding transcript exon variant G/T snv 0.37 62
rs78311289 0.689 0.440 4 1806162 missense variant A/C;G snv 4.0E-06 25
rs9282861 0.658 0.440 16 28606193 missense variant C/T snv 31
rs12917 0.605 0.480 10 129708019 missense variant C/T snv 0.14 0.14 45
rs217727 0.641 0.480 11 1995678 non coding transcript exon variant G/A snv 0.20 34
rs2854744 0.695 0.520 7 45921476 intron variant G/T snv 0.48 20
rs104894228 0.605 0.560 11 534286 missense variant C/A;G;T snv 48
rs121913279 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 101
rs121913483 0.649 0.560 4 1801841 missense variant C/A;G;T snv 4.2E-06; 1.3E-05 31
rs17655 0.597 0.560 13 102875652 missense variant G/C snv 0.28 0.30 52
rs2228000
XPC
0.585 0.560 3 14158387 missense variant G/A snv 0.24 0.21 53
rs351855 0.597 0.560 5 177093242 missense variant G/A snv 0.33 0.26 58
rs3834129 0.627 0.560 2 201232809 upstream gene variant AGTAAG/- del 0.48 38
rs104894229 0.564 0.600 11 534289 missense variant C/A;G;T snv 73
rs104894230 0.564 0.600 11 534288 missense variant C/A;G;T snv 73
rs1050450 0.623 0.600 3 49357401 missense variant G/A snv 0.28 0.30 43
rs2736098 0.600 0.600 5 1293971 synonymous variant C/T snv 0.29 0.22 48
rs763059810 0.623 0.600 2 136115750 missense variant T/C snv 4.0E-06 41
rs121434592 0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 54
rs121913530 0.583 0.640 12 25245351 missense variant C/A;G;T snv 63
rs1799793 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 72