Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1217691063 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs113488022 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 490
rs121913377 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 480
rs1042522 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 242
rs1131691014 0.439 0.800 17 7676154 frameshift variant -/C ins 214
rs878854066 0.439 0.800 17 7676153 missense variant GG/AC mnv 213
rs25487 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 205
rs2910164 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 193
rs1799782 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 151
rs861539 0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 104
rs25489 0.550 0.720 19 43552260 missense variant C/G;T snv 8.5E-06; 7.1E-02 78
rs6983267 0.578 0.440 8 127401060 non coding transcript exon variant G/T snv 0.37 62
rs2228001
XPC
0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 60
rs11554290 0.583 0.600 1 114713908 missense variant T/A;C;G snv 59
rs17879961 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 53
rs2279744 0.605 0.640 12 68808800 intron variant T/G snv 0.31 48
rs1801516
ATM
0.627 0.400 11 108304735 missense variant G/A snv 0.11 0.11 39
rs3218536 0.620 0.440 7 152648922 missense variant C/G;T snv 4.0E-06; 6.4E-02 37
rs1057519695 0.641 0.520 1 114713907 missense variant TT/CA;CC mnv 35
rs10741657 0.637 0.520 11 14893332 upstream gene variant A/G snv 0.65 34
rs1057519834 0.658 0.480 1 114713908 missense variant TG/CT mnv 31
rs1447295 0.658 0.400 8 127472793 intron variant A/C;T snv 29
rs1799939
RET
0.658 0.280 10 43114671 missense variant G/A;C;T snv 0.21 27
rs189037
ATM ; NPAT
0.689 0.400 11 108223106 5 prime UTR variant G/A snv 0.49 22
rs944289 0.742 0.200 14 36180040 upstream gene variant C/T snv 0.45 16