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
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
rs699947 0.570 0.680 6 43768652 upstream gene variant A/C;T snv 67
rs6983267 0.578 0.440 8 127401060 non coding transcript exon variant G/T snv 0.37 62
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
rs104894228 0.605 0.560 11 534286 missense variant C/A;G;T snv 48
rs397517132 0.623 0.280 7 55191846 missense variant A/T snv 48
rs1057519695 0.641 0.520 1 114713907 missense variant TT/CA;CC mnv 35
rs1136201 0.645 0.280 17 39723335 missense variant A/G;T snv 0.20 34
rs1057519834 0.658 0.480 1 114713908 missense variant TG/CT mnv 31
rs2227983 0.658 0.520 7 55161562 missense variant G/A;C;T snv 0.29 31
rs75076352
RET
0.689 0.240 10 43114500 missense variant T/A;C;G snv 1.2E-05 24
rs944289 0.742 0.200 14 36180040 upstream gene variant C/T snv 0.45 16
rs965513 0.742 0.200 9 97793827 intron variant A/G;T snv 15
rs2221903 0.752 0.360 4 122617757 intron variant C/T snv 0.77 12
rs116909374 0.776 0.120 14 36269155 regulatory region variant C/T snv 2.3E-02 11
rs966423 0.776 0.200 2 217445617 intron variant C/G;T snv 11