Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs6796803 0.925 0.040 3 186746318 intron variant T/A;C snv 4
rs11540483 0.925 0.040 7 27787484 missense variant T/A snv 8.2E-02 7.7E-02 2
rs2228001
XPC
0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 60
rs927068 0.925 0.040 20 49561437 intron variant G/T snv 0.32 2
rs1800796 0.555 0.760 7 22726627 non coding transcript exon variant G/C snv 9.9E-02 74
rs17655 0.597 0.560 13 102875652 missense variant G/C snv 0.28 0.30 52
rs762384959 0.925 0.040 14 20456680 missense variant G/C snv 8.0E-06 4
rs1208 0.807 0.080 8 18400806 missense variant G/A;T snv 0.62; 4.0E-06 8
rs4253132 0.925 0.040 10 49493110 splice region variant G/A;T snv 0.89; 4.4E-05 2
rs1045485 0.637 0.480 2 201284866 missense variant G/A;C;T snv 4.0E-06; 9.0E-02 34
rs397516436 0.641 0.440 17 7674894 stop gained G/A;C snv 34
rs1629816 0.851 0.080 3 10294607 non coding transcript exon variant G/A;C snv 4
rs4855883 0.851 0.080 3 49673881 upstream gene variant G/A;C snv 4
rs752153816 0.882 0.120 6 43780848 missense variant G/A;C snv 4.0E-06; 4.0E-06; 1.2E-05; 3.6E-05 3
rs16943176 0.925 0.040 17 58692526 upstream gene variant G/A;C snv 2
rs1799782 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 151
rs671 0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 116
rs861539 0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 104
rs1222213359 0.574 0.720 6 43770966 missense variant G/A snv 62
rs351855 0.597 0.560 5 177093242 missense variant G/A snv 0.33 0.26 58
rs2228000
XPC
0.585 0.560 3 14158387 missense variant G/A snv 0.24 0.21 53
rs1979277 0.620 0.560 17 18328782 missense variant G/A snv 0.27 0.31 45
rs16969968 0.653 0.360 15 78590583 missense variant G/A snv 0.26 0.24 37
rs920778 0.633 0.480 12 53966448 intron variant G/A snv 0.57 36
rs9344 0.653 0.480 11 69648142 splice region variant G/A snv 0.45 0.39 34