Source: BEFREE ×
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-06 484
rs121913377
BRAF
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 480
rs1463038513
APC
0.658 0.440 5 112839511 frameshift variant TAAA/- delins 36
rs1801155
APC
0.649 0.440 5 112839514 missense variant T/A snv 8.0E-06; 2.0E-03 1.2E-03 36
rs1060503115
PMS2
0.763 0.400 7 5978664 missense variant T/A;G snv 13
rs4987188
MSH2
0.790 0.200 2 47416318 missense variant G/A;T snv 1.3E-02; 2.0E-05 11
rs63750875
MSH2
0.742 0.280 2 47475171 missense variant G/A;C snv 1.6E-05 10
rs17217772
MSH2
0.790 0.240 2 47410107 missense variant A/C;G;T snv 5.8E-03 9
rs200640585
PMS2
0.790 0.280 7 5992018 stop gained G/A snv 1.6E-05 1.4E-05 5
rs587780062
PMS2
0.827 0.240 7 5995614 stop gained G/A;C snv 8.0E-06; 8.0E-05 5
rs63750217
MLH1
0.807 0.240 3 37048955 missense variant G/A;C snv 4
rs63750899
MLH1
0.851 0.200 3 37048562 missense variant C/G;T snv 4
rs63749795
MLH1
0.807 0.240 3 37028833 stop gained C/T snv 3
rs63750206
MLH1
0.807 0.200 3 36996701 missense variant G/A;C;T snv 3
rs763606858
MSH6 ; FBXO11
0.882 0.200 2 47799854 missense variant G/A;T snv 2.8E-05; 4.0E-06 3
rs587779338
PMS2
0.851 0.200 7 5977589 missense variant G/A snv 1.0E-05 2.1E-05 3
rs786201042
MSH6
0.827 0.240 2 47783243 stop gained C/G;T snv 2.5E-05 2
rs869320619
PMS2
1.000 0.160 7 5986763 missense variant T/C snv 2
rs756580931
LOC105373796 ; PMS1
1.000 0.160 2 189863996 missense variant A/G snv 1
rs63751615
MLH1
0.851 0.200 3 37012098 stop gained C/A;T snv 4.0E-06 1
rs121434629
PMS2
0.763 0.320 7 6005918 missense variant C/A;T snv 1.6E-04; 8.1E-06 1
rs146848345
PMS2
1.000 0.160 7 5987327 missense variant C/G;T snv 8.0E-06; 2.8E-05 1
rs267608161
PMS2
0.851 0.200 7 5982885 missense variant C/T snv 4.0E-05 2.8E-05 1
rs63750871
PMS2
0.882 0.200 7 6002590 stop gained G/A snv 4.0E-06 7.0E-06 1