Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs121913343 0.611 0.520 17 7673803 missense variant G/A;C;T snv 1.2E-05 44
rs3212986 0.620 0.400 19 45409478 stop gained C/A;G;T snv 0.29; 4.3E-06; 4.3E-06 42
rs1458766475 0.637 0.680 1 169732649 missense variant C/G;T snv 4.0E-06; 4.0E-06 41
rs727503094 0.633 0.440 11 534287 missense variant GC/AG;AT;TA;TT mnv 41
rs3218536 0.620 0.440 7 152648922 missense variant C/G;T snv 4.0E-06; 6.4E-02 37
rs1045485 0.637 0.480 2 201284866 missense variant G/A;C;T snv 4.0E-06; 9.0E-02 34
rs121912666 0.645 0.360 17 7674872 missense variant T/C;G snv 8.0E-06 34
rs505922
ABO
0.689 0.520 9 133273813 intron variant C/T snv 34
rs1800440 0.653 0.440 2 38070996 missense variant T/C;G snv 0.15; 4.0E-06 29
rs1799939
RET
0.658 0.280 10 43114671 missense variant G/A;C;T snv 0.21 27
rs5219 0.701 0.360 11 17388025 stop gained T/A;C snv 0.64 25
rs1801270 0.689 0.400 6 36684194 missense variant C/A;T snv 0.15; 4.4E-05 22
rs1131691021 0.716 0.120 17 7675097 missense variant A/C;G snv 21
rs2066827 0.695 0.320 12 12718165 missense variant T/A;C;G snv 1.6E-04; 1.6E-05; 0.26 21
rs698 0.724 0.240 4 99339632 missense variant T/A;C snv 0.35 20
rs9904341 0.695 0.280 17 78214286 5 prime UTR variant G/A;C;T snv 0.38; 4.8E-06 20
rs1273593548 0.716 0.160 7 106867593 missense variant T/G snv 8.4E-06 19
rs1042821 0.732 0.280 2 47783349 missense variant G/A;C;T snv 0.18; 8.6E-06 16
rs2075685 0.724 0.320 5 83076846 intron variant G/A;T snv 14
rs1859168 0.790 0.160 7 27202740 non coding transcript exon variant A/C;G;T snv 13
rs104894094 0.763 0.200 9 21971058 missense variant C/A;G;T snv 8.5E-06; 4.3E-06 12
rs111033565 0.742 0.120 7 142751938 missense variant G/A snv 1.2E-05 11
rs17281995 0.763 0.360 3 122120794 3 prime UTR variant G/A;C snv 11
rs267606982 0.742 0.120 7 142751938 missense variant GC/AT mnv 11
rs1057519921 0.763 0.240 2 177234231 missense variant T/C snv 10