Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs753535070 0.851 0.120 1 155187350 missense variant T/C snv 8.0E-06 5
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
rs16944 0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57 92
rs17045754 0.790 0.280 2 54269620 intron variant G/A;C snv 7
rs207454
XDH
0.851 0.120 2 31344766 intron variant T/G snv 0.11 0.16 4
rs2292832 0.605 0.640 2 240456086 non coding transcript exon variant T/A;C snv 0.59 46
rs2303428 0.776 0.240 2 47476361 splice region variant T/A;C;G snv 4.0E-06; 0.12 9
rs2856836 0.763 0.280 2 112774506 3 prime UTR variant A/G snv 0.26 9
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
rs6713088 0.763 0.200 2 54118332 intron variant C/G snv 0.48 9
rs763059810 0.623 0.600 2 136115750 missense variant T/C snv 4.0E-06 41
rs828907 0.827 0.160 2 216108009 intron variant G/T snv 0.37 6
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
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
rs266729 0.637 0.560 3 186841685 upstream gene variant C/A;G;T snv 37
rs746702110 0.627 0.480 3 9756778 missense variant C/T snv 1.2E-05 2.8E-05 38
rs2240688 0.790 0.160 4 15968726 3 prime UTR variant T/G snv 0.22 7
rs28362491 0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins 56