Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1051740 0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27 56
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 0.27 174
rs1805087
MTR
0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 135
rs2234922 0.630 0.440 1 225838705 missense variant A/G;T snv 0.19; 2.8E-05 42
rs397507444 0.405 0.880 1 11794407 missense variant T/G snv 306
rs768623239 0.662 0.640 1 109689278 missense variant A/G snv 1.5E-05 26
rs1056827 0.683 0.400 2 38075034 missense variant C/A snv 0.32 0.35 24
rs1056836 0.581 0.680 2 38071060 missense variant G/C snv 0.51 58
rs3834129 0.627 0.560 2 201232809 upstream gene variant AGTAAG/- del 0.48 38
rs763059810 0.623 0.600 2 136115750 missense variant T/C snv 4.0E-06 41
rs8175347 0.708 0.400 2 233760234 intron variant TATA/-;TA;TATATA;TATATATA;TATATATATA;TATATATATATA delins 16
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
rs121913279 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 101
rs1799864 0.572 0.680 3 46357717 missense variant G/A snv 0.13 0.12 68
rs1801282 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 131
rs2228000
XPC
0.585 0.560 3 14158387 missense variant G/A snv 0.24 0.21 53
rs121913479 0.763 0.280 4 1804362 missense variant G/A;T snv 4.0E-06 10
rs121913483 0.649 0.560 4 1801841 missense variant C/A;G;T snv 4.2E-06; 1.3E-05 31
rs17881656 0.925 0.240 4 1804404 missense variant T/A;C snv 8.0E-06; 3.3E-03 3
rs386675647 0.790 0.240 4 69098619 missense variant AT/TC mnv 10
rs7439366 0.752 0.320 4 69098620 missense variant T/C snv 0.56 0.57 16
rs78311289 0.689 0.440 4 1806162 missense variant A/C;G snv 4.0E-06 25
rs798766 0.851 0.120 4 1732512 intron variant T/C snv 0.76 6