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
rs63750875
MSH2
0.742 0.280 2 47475171 missense variant G/A;C snv 1.6E-05 15
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
rs1114167806
MSH2
0.827 0.200 2 47463096 stop gained ATGA/-;ATGAATGA delins 7
rs63749843
MSH6 ; FBXO11
0.827 0.240 2 47803449 stop gained C/A;G;T snv 7
rs63751108
MSH2
0.827 0.240 2 47429881 stop gained C/T snv 7
rs267607940
MSH2
0.851 0.240 2 47416430 splice donor variant G/A;T snv 6
rs587779157
MSH2
0.827 0.240 2 47408486 inframe deletion GAAGTT/- delins 6
rs63749849
MSH2
0.851 0.240 2 47429812 stop gained C/T snv 6
rs63750193
MLH1
0.851 0.160 3 37040276 missense variant T/C snv 6
rs63750508
MSH2
0.851 0.240 2 47475126 stop gained C/G;T snv 6
rs63750617
FBXO11 ; MSH6
0.851 0.160 2 47803473 missense variant C/G;T snv 4.0E-06; 9.5E-05 6
rs63750624
MSH2
0.925 0.160 2 47410211 missense variant G/A snv 6
rs63750636
MSH2
0.851 0.240 2 47476492 stop gained C/T snv 7.0E-06 6
rs63750781
MLH1
0.851 0.160 3 37004444 missense variant C/G;T snv 4.0E-06 6
rs63751207
MSH2
0.851 0.240 2 47466718 missense variant G/A;C;T snv 8.0E-06 6
rs267607901
MLH1
0.882 0.160 3 37050633 frameshift variant AA/-;A;AAAA delins 5
rs587779067
MSH2
0.882 0.200 2 47416399 missense variant C/G;T snv 5
rs587779075
MSH2
0.882 0.200 2 47429830 stop gained C/T snv 5
rs587779190
MSH2
0.851 0.240 2 47414344 stop gained G/C;T snv 4.0E-06 5
rs63749873
MSH6 ; FBXO11
0.882 0.160 2 47795903 stop gained C/G snv 4.0E-06 1.4E-05 5
rs63749932
MSH2
0.882 0.160 2 47476399 stop gained C/G;T snv 1.6E-05; 4.0E-06 5
rs63750086
MSH2
0.882 0.200 2 47429891 frameshift variant AG/- del 5
rs63750398
MSH2
0.925 0.160 2 47476451 missense variant G/A;T snv 5
rs63750453
MLH1
0.882 0.160 3 37001051 missense variant G/A snv 5