Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs6983267 0.578 0.440 8 127401060 non coding transcript exon variant G/T snv 0.37 55
rs5275 0.583 0.560 1 186673926 3 prime UTR variant A/G;T snv 55
rs2070744 0.608 0.680 7 150992991 intron variant C/T snv 0.70 53
rs2228000
XPC
0.585 0.560 3 14158387 missense variant G/A snv 0.24 0.21 53
rs17655 0.597 0.560 13 102875652 missense variant G/C snv 0.28 0.30 52
rs758272654 0.611 0.680 20 58909201 synonymous variant T/C snv 4.0E-06 7.0E-06 50
rs2066844 0.587 0.520 16 50712015 missense variant C/T snv 2.6E-02 2.9E-02 49
rs2228145 0.602 0.720 1 154454494 missense variant A/C;T snv 0.38; 1.2E-05 48
rs1799750 0.592 0.760 11 102799765 intron variant C/- delins 0.50 48
rs2279744 0.605 0.640 12 68808800 intron variant T/G snv 0.31 47
rs243865 0.600 0.640 16 55477894 intron variant C/T snv 0.19 47
rs5361 0.623 0.720 1 169731919 missense variant T/G snv 8.3E-02; 8.0E-06 7.8E-02 47
rs11209026 0.597 0.680 1 67240275 missense variant G/A snv 4.2E-02 4.6E-02 46
rs1799964 0.608 0.760 6 31574531 upstream gene variant T/C snv 0.19 46
rs2292832 0.605 0.640 2 240456086 non coding transcript exon variant T/A;C snv 0.59 46
rs895819 0.623 0.560 19 13836478 non coding transcript exon variant T/A;C;G snv 0.34 0.38 46
rs1143627 0.605 0.760 2 112836810 5 prime UTR variant G/A snv 0.56 45
rs1799724
LTA ; TNF
0.600 0.680 6 31574705 upstream gene variant C/T snv 8.5E-02 45
rs12917 0.605 0.480 10 129708019 missense variant C/T snv 0.14 0.14 45
rs1050450 0.623 0.600 3 49357401 missense variant G/A snv 0.28 0.30 43
rs2066845 0.611 0.600 16 50722629 missense variant G/C;T snv 1.1E-02; 2.2E-04 43
rs3212986 0.620 0.400 19 45409478 stop gained C/A;G;T snv 0.29; 4.3E-06; 4.3E-06 42
rs833061 0.605 0.600 6 43769749 upstream gene variant C/G;T snv 42
rs1458766475 0.637 0.680 1 169732649 missense variant C/G;T snv 4.0E-06; 4.0E-06 41
rs763059810 0.623 0.600 2 136115750 missense variant T/C snv 4.0E-06 41