Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 490
rs121913377
BRAF
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 480
rs1801155
APC
0.649 0.440 5 112839514 missense variant T/A snv 8.0E-06; 2.0E-03 1.2E-03 42
rs1463038513
APC
0.658 0.440 5 112839511 frameshift variant TAAA/- delins 36
rs63750875
MSH2
0.742 0.280 2 47475171 missense variant G/A;C snv 1.6E-05 15
rs1060503115
PMS2
0.763 0.400 7 5978664 missense variant T/A;G snv 13
rs121434629
PMS2
0.763 0.320 7 6005918 missense variant C/A;T snv 1.6E-04; 8.1E-06 13
rs4987188
MSH2
0.790 0.200 2 47416318 missense variant G/A;T snv 1.3E-02; 2.0E-05 11
rs63750217
MLH1
0.807 0.240 3 37048955 missense variant G/A;C snv 10
rs17217772
MSH2
0.790 0.240 2 47410107 missense variant A/C;G;T snv 5.8E-03 10
rs63750206
MLH1
0.807 0.200 3 36996701 missense variant G/A;C;T snv 9
rs200640585
PMS2
0.790 0.280 7 5992018 stop gained G/A snv 1.6E-05 1.4E-05 9
rs63749795
MLH1
0.807 0.240 3 37028833 stop gained C/T snv 8
rs1057515572
PMS2
0.882 0.200 7 5987033 frameshift variant GC/ACT delins 8
rs587780062
PMS2
0.827 0.240 7 5995614 stop gained G/A;C snv 8.0E-06; 8.0E-05 8
rs63750899
MLH1
0.851 0.200 3 37048562 missense variant C/G;T snv 7
rs63751108
MSH2
0.827 0.240 2 47429881 stop gained C/T snv 7
rs786201042
MSH6
0.827 0.240 2 47783243 stop gained C/G;T snv 2.5E-05 7
rs63749843
MSH6 ; FBXO11
0.827 0.240 2 47803449 stop gained C/A;G;T snv 7
rs267608150
PMS2
0.851 0.320 7 5997388 stop gained AGGGGG/CTTCACAAC;CTTCACACACA;NNNNNNNNNNN delins 7
rs587779338
PMS2
0.851 0.200 7 5977589 missense variant G/A snv 1.0E-05 2.1E-05 7
rs587779340
PMS2
0.882 0.200 7 6003794 splice acceptor variant T/A;C;G snv 4.1E-06 7
rs63751422
PMS2
0.882 0.280 7 5986838 stop gained G/A snv 4.0E-06 7.0E-06 7
rs63749999
FBXO11 ; MSH6
0.851 0.240 2 47801086 stop gained C/T snv 1.2E-05 6
rs63751017
FBXO11 ; MSH6
0.851 0.240 2 47800714 stop gained C/A;T snv 1.4E-05 6