Disease: Colorectal cancer, hereditary nonpolyposis, type 1
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs587779333
PMS2 ; AIMP2
0.851 0.200 7 6009019 start lost T/A;C;G snv 4.0E-06; 2.8E-05 10
rs63750250
PMS2
0.807 0.280 7 5986933 frameshift variant -/T delins 1.6E-05 4.2E-05 9
rs63750617
FBXO11 ; MSH6
0.851 0.160 2 47803473 missense variant C/G;T snv 4.0E-06; 9.5E-05 6
rs63749843
MSH6 ; FBXO11
0.827 0.240 2 47803449 stop gained C/A;G;T snv 7
rs587783056
MSH6 ; FBXO11
0.925 0.160 2 47799685 frameshift variant TT/- delins 1.4E-05 4
rs63749873
MSH6 ; FBXO11
0.882 0.160 2 47795903 stop gained C/G snv 4.0E-06 1.4E-05 5
rs63750342
FBXO11 ; MSH6
0.925 0.160 2 47791092 stop gained G/A snv 2
rs146421227
MSH2
0.882 0.160 2 47482912 missense variant T/A snv 7.0E-06 3
rs63751618
MSH2
0.925 0.160 2 47480866 frameshift variant AG/- delins 4
rs63750849
MSH2
0.925 0.160 2 47480816 stop gained C/A;T snv 8.0E-06 4
rs587779148
MSH2
0.925 0.160 2 47480760 frameshift variant AG/- delins 3
rs63750618
MSH2
0.925 0.160 2 47478395 stop gained C/A snv 3
rs63751119
MSH2
0.925 0.160 2 47478312 missense variant G/A;C snv 3
rs63751477
MSH2
0.925 0.160 2 47478306 stop gained G/A;T snv 3
rs63751155
MSH2
0.925 0.160 2 47478289 stop gained C/A;G;T snv 4
rs63750636
MSH2
0.851 0.240 2 47476492 stop gained C/T snv 7.0E-06 6
rs63749811
MSH2
0.925 0.160 2 47476474 frameshift variant G/- del 4
rs63750398
MSH2
0.925 0.160 2 47476451 missense variant G/A;T snv 5
rs63750961
MSH2
0.925 0.160 2 47476450 missense variant T/C snv 3
rs267607994
MSH2
0.925 0.160 2 47476448 missense variant C/T snv 3
rs63751432
MSH2
0.925 0.160 2 47476436 missense variant G/A;T snv 2
rs63750232
MSH2
0.925 0.160 2 47476435 missense variant G/A;C;T snv 4
rs63749932
MSH2
0.882 0.160 2 47476399 stop gained C/G;T snv 1.6E-05; 4.0E-06 5
rs267607996
MSH2
0.925 0.160 2 47476382 missense variant G/A;C snv 2
rs63750234
MSH2
0.925 0.160 2 47476381 missense variant G/A;C snv 2