Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1042522 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 242
rs1057941 0.701 0.280 1 155216951 non coding transcript exon variant G/A;T snv 0.46 18
rs1130409 0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 72
rs1131445 0.724 0.440 15 81309441 3 prime UTR variant T/A;C snv 16
rs1131691014 0.439 0.800 17 7676154 frameshift variant -/C ins 214
rs12255372 0.667 0.480 10 113049143 intron variant G/A;T snv 28
rs13181 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 134
rs1353702185 0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06 79
rs1447295 0.658 0.400 8 127472793 intron variant A/C;T snv 29
rs1569686 0.752 0.400 20 32779273 intron variant G/A;C;T snv 15
rs1799793 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 72
rs1799983 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 246
rs1805192 0.510 0.840 3 12379739 missense variant C/G snv 121
rs1870134
XPC ; LSM3
0.827 0.120 3 14178523 missense variant G/C;T snv 4.2E-02; 8.1E-06 5
rs20417 0.576 0.600 1 186681189 non coding transcript exon variant C/G;T snv 57
rs2273535 0.645 0.360 20 56386485 missense variant A/C;T snv 0.28 38
rs2295080 0.695 0.320 1 11262571 upstream gene variant G/C;T snv 20
rs2298881 0.653 0.400 19 45423658 intron variant C/A;T snv 25
rs25489 0.550 0.720 19 43552260 missense variant C/G;T snv 8.5E-06; 7.1E-02 78
rs266729 0.637 0.560 3 186841685 upstream gene variant C/A;G;T snv 37
rs2854746 0.752 0.200 7 45921046 missense variant G/A;C;T snv 0.38 14
rs3783553 0.667 0.480 2 112774138 3 prime UTR variant -/TGAA delins 26
rs397507444 0.405 0.880 1 11794407 missense variant T/G snv 306
rs4245739 0.708 0.360 1 204549714 3 prime UTR variant C/A;G snv 0.77; 6.2E-06 21
rs4986790 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 223