Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs996659898 1.000 0.080 20 57500314 missense variant G/C snv 1
rs9282861 0.658 0.440 16 28606193 missense variant C/T snv 31
rs895819 0.623 0.560 19 13836478 non coding transcript exon variant T/A;C;G snv 0.34 0.38 46
rs886039958 0.882 0.080 17 43093956 frameshift variant A/-;AA delins 3
rs878854066 0.439 0.800 17 7676153 missense variant GG/AC mnv 213
rs878853646 0.882 0.080 9 21971106 missense variant C/A;T snv 4.3E-06; 8.6E-06 3
rs876660702 0.851 0.160 17 43063333 splice region variant C/T snv 4
rs861539 0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 104
rs80358505 1.000 0.080 13 32319249 missense variant A/G;T snv 1
rs80357125 0.882 0.080 17 43063940 missense variant C/A;G;T snv 3
rs80357007 1.000 0.080 17 43051107 missense variant C/A;T snv 1
rs799917 0.708 0.320 17 43092919 missense variant G/A;C;T snv 0.40; 1.6E-05 18
rs796096871 0.807 0.200 17 19909228 missense variant TG/CA mnv 6
rs77724903
RET
0.672 0.280 10 43118460 missense variant A/G;T snv 4.0E-06; 2.1E-03 23
rs770140945 0.882 0.200 15 74720665 missense variant G/A snv 4.0E-06 7.0E-06 4
rs767915085 0.882 0.080 16 28606122 missense variant T/C snv 8.0E-06 7.1E-06 3
rs759412116 0.581 0.640 19 45352210 missense variant C/G;T snv 4.0E-06; 6.0E-05 55
rs758898660 1.000 0.080 5 73892052 missense variant G/A snv 4.4E-06 1
rs756522395
ATM
1.000 0.080 11 108257484 missense variant C/G;T snv 1
rs755100942 0.724 0.320 13 49630894 stop gained G/A snv 4.2E-06 17
rs753904217 1.000 0.080 1 109690557 missense variant G/A snv 1.9E-04 6.6E-05 1
rs751942421 1.000 0.080 11 562702 missense variant C/T snv 1.4E-05 7.0E-06 1
rs747364414 0.882 0.080 17 43082496 missense variant C/T snv 4.0E-06 7.0E-06 3
rs6964587 0.851 0.120 7 92001306 missense variant G/T snv 0.38 0.42 4
rs6960867 0.882 0.080 7 92083384 missense variant A/G snv 0.36 0.34 3