Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1143623 0.677 0.440 2 112838252 upstream gene variant C/G snv 0.24 29
rs13428812 0.827 0.120 2 25269598 intron variant A/G snv 0.31 9
rs1550117 0.790 0.320 2 25343038 upstream gene variant A/G;T snv 11
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
rs551060742 0.827 0.120 2 47482929 stop gained C/T snv 8.4E-05 1.0E-04 7
rs5742909 0.614 0.680 2 203867624 upstream gene variant C/T snv 6.7E-02 40
rs6733868 0.851 0.120 2 25276998 intron variant C/G snv 0.50 6
rs763059810 0.623 0.600 2 136115750 missense variant T/C snv 4.0E-06 41
rs779315943 0.882 0.160 2 25247708 frameshift variant TTTCC/- del 5
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
rs1799864 0.572 0.680 3 46357717 missense variant G/A snv 0.13 0.12 68
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
rs2293303 0.827 0.200 3 41239336 synonymous variant C/T snv 3.2E-02 1.2E-02 7
rs2607775
XPC ; LSM3
0.807 0.160 3 14178595 5 prime UTR variant C/G snv 0.42 0.43 8
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