Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs2292832 0.605 0.640 2 240456086 non coding transcript exon variant T/A;C snv 0.59 46
rs1800587 0.620 0.720 2 112785383 upstream gene variant G/A;C snv 0.32 43
rs5742909 0.614 0.680 2 203867624 upstream gene variant C/T snv 6.7E-02 40
rs1126497 0.716 0.200 2 47373967 missense variant T/C snv 0.51 0.58 14
rs11674595 0.763 0.200 2 101994530 intron variant T/C snv 0.22 13
rs1207011218 0.742 0.440 2 203870794 synonymous variant C/T snv 12
rs4851527 0.790 0.160 2 102005914 intron variant A/G snv 0.63 7
rs1110839 0.807 0.120 2 113236840 non coding transcript exon variant G/A;C;T snv 6
rs3218896 0.807 0.160 2 102015190 intron variant T/C;G snv 6
rs4848320 0.807 0.120 2 113253214 intron variant C/G;T snv 6
rs1143630 0.827 0.160 2 112834078 intron variant T/A;G snv 5
rs719250 0.827 0.200 2 102007256 intron variant C/T snv 0.11 5
rs1007541 0.882 0.080 2 48981895 intron variant C/T snv 0.16 4
rs750553272 0.851 0.080 2 177230898 missense variant G/A snv 1.2E-05 7.0E-06 4
rs997363 0.925 0.080 2 227644742 intron variant C/T snv 0.64 2
rs1052133 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 147
rs104886003 0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 71
rs1799864 0.572 0.680 3 46357717 missense variant G/A snv 0.13 0.12 68
rs2228001
XPC
0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 60
rs121913273 0.605 0.440 3 179218294 missense variant G/A;C snv 44
rs352140 0.630 0.680 3 52222681 synonymous variant C/A;G;T snv 2.0E-05; 0.49 42
rs187084 0.641 0.480 3 52227015 intron variant A/G snv 0.38 36
rs752742313 0.637 0.320 3 138655502 missense variant C/T snv 1.2E-05 36
rs568408 0.649 0.600 3 159995680 3 prime UTR variant G/A snv 0.16 29
rs333 0.667 0.520 3 46373453 frameshift variant GTCAGTATCAATTCTGGAAGAATTTCCAGACA/- delins 7.3E-02 23