Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs2001389 0.925 0.120 10 102615501 intron variant G/A;C snv 3
rs121913527 0.807 0.320 12 25225628 missense variant C/A;G;T snv 9
rs1057519921 0.763 0.240 2 177234231 missense variant T/C snv 10
rs887303970 0.776 0.280 4 24799565 missense variant C/T snv 8.8E-06 7.0E-06 10
rs74315364 0.732 0.200 1 182586014 stop gained C/A snv 3.6E-03; 4.0E-06 3.3E-03 13
rs11655237 0.724 0.280 17 72404025 non coding transcript exon variant C/T snv 0.16 17
rs1273593548 0.716 0.160 7 106867593 missense variant T/G snv 8.4E-06 19
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
rs8034191 0.695 0.440 15 78513681 intron variant T/C snv 0.27 24
rs1799939
RET
0.658 0.280 10 43114671 missense variant G/A;C;T snv 0.21 27
rs149617956 0.672 0.560 3 69964940 missense variant G/A snv 1.4E-03 1.6E-03 32
rs486907 0.667 0.360 1 182585422 missense variant C/T snv 0.31 0.28 32
rs1045485 0.637 0.480 2 201284866 missense variant G/A;C;T snv 4.0E-06; 9.0E-02 34
rs3218536 0.620 0.440 7 152648922 missense variant C/G;T snv 4.0E-06; 6.4E-02 37
rs1801516
ATM
0.627 0.400 11 108304735 missense variant G/A snv 0.11 0.11 39
rs727503094 0.633 0.440 11 534287 missense variant GC/AG;AT;TA;TT mnv 41
rs3212986 0.620 0.400 19 45409478 stop gained C/A;G;T snv 0.29; 4.3E-06; 4.3E-06 42
rs401681 0.620 0.640 5 1321972 intron variant C/T snv 0.48 42
rs5361 0.623 0.720 1 169731919 missense variant T/G snv 8.3E-02; 8.0E-06 7.8E-02 47
rs1501299 0.597 0.720 3 186853334 intron variant G/C;T snv 52
rs121912651 0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06 53
rs121434592 0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 54
rs11549465 0.597 0.680 14 61740839 missense variant C/T snv 8.8E-02 7.7E-02 55
rs762846821 0.614 0.320 17 7675151 missense variant C/A;T snv 8.0E-06 57