Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs3218536 0.620 0.440 7 152648922 missense variant C/G;T snv 4.0E-06; 6.4E-02 37
rs3218373 0.827 0.120 7 152677078 upstream gene variant C/A snv 0.15 5
rs7802034 0.925 0.040 7 152655183 intron variant A/C;G snv 2
rs25487 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 205
rs1799782 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 151
rs25489 0.550 0.720 19 43552260 missense variant C/G;T snv 8.5E-06; 7.1E-02 78
rs2228001
XPC
0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 60
rs2228000
XPC
0.585 0.560 3 14158387 missense variant G/A snv 0.24 0.21 53
rs1222213359 0.574 0.720 6 43770966 missense variant G/A snv 62
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
rs397516436 0.641 0.440 17 7674894 stop gained G/A;C snv 34
rs1057519991 0.662 0.440 17 7675076 missense variant T/A;C;G snv 4.0E-06 26
rs764146326 0.662 0.480 17 7673779 missense variant C/A;G;T snv 4.0E-06 25
rs786203436 0.701 0.280 17 7675125 missense variant A/C;G;T snv 20
rs876659477 0.882 0.040 17 7673730 missense variant T/C snv 3
rs4149570 0.752 0.360 12 6342424 upstream gene variant A/C;G;T snv 11
rs20575 0.645 0.440 8 23201811 missense variant C/G snv 0.54 0.44 29
rs2230229 0.807 0.120 8 23191779 missense variant C/T snv 0.88 0.86 8
rs8126 0.807 0.080 14 103137232 3 prime UTR variant C/T snv 0.63 8
rs17222691 0.925 0.040 17 58693735 3 prime UTR variant C/T snv 0.17 2
rs2736100 0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 83
rs11540483 0.925 0.040 7 27787484 missense variant T/A snv 8.2E-02 7.7E-02 2
rs10950641 0.925 0.040 7 2294751 intron variant G/A snv 2.9E-02 4
rs3782116 0.925 0.040 11 223119 3 prime UTR variant T/C snv 0.74 2
rs6598072 0.925 0.040 11 219793 intron variant C/T snv 0.79 2