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
rs63750070
MSH2
0.882 0.160 2 47410245 missense variant T/C;G snv 3
rs63751444
MSH2
0.925 0.160 2 47410287 missense variant T/C;G snv 4
rs1558459885
MSH2
0.925 0.160 2 47410371 frameshift variant A/- del 2
rs63750488
MSH2
0.925 0.160 2 47412483 stop gained C/G;T snv 4
rs63750881
MSH2
0.925 0.160 2 47412504 stop gained A/C;G;T snv 2
rs587779185
MSH2
0.925 0.160 2 47414284 frameshift variant TCTG/- delins 4
rs587779190
MSH2
0.851 0.240 2 47414344 stop gained G/C;T snv 4.0E-06 5
rs63749914
MSH2
0.925 0.160 2 47414381 stop gained T/A;C snv 2
rs193922376
MSH2
0.925 0.160 2 47414421 splice region variant A/G;T snv 3.3E-05 4
rs587779198
MSH2
0.925 0.160 2 47416294 splice acceptor variant A/G snv 4
rs63750828
MSH2
0.925 0.160 2 47416351 missense variant G/A snv 4
rs587779067
MSH2
0.882 0.200 2 47416399 missense variant C/G;T snv 5
rs267607940
MSH2
0.851 0.240 2 47416430 splice donor variant G/A;T snv 6
rs267607943
MSH2
0.925 0.160 2 47429740 splice acceptor variant A/C;G;T snv 4
rs63751617
MSH2
0.925 0.160 2 47429742 missense variant A/T snv 3
rs63749849
MSH2
0.851 0.240 2 47429812 stop gained C/T snv 6
rs587779075
MSH2
0.882 0.200 2 47429830 stop gained C/T snv 5
rs63750586
MSH2
0.925 0.160 2 47429867 frameshift variant -/A delins 3
rs63751108
MSH2
0.827 0.240 2 47429881 stop gained C/T snv 7
rs63750086
MSH2
0.882 0.200 2 47429891 frameshift variant AG/- del 5
rs267607953
MSH2
0.925 0.160 2 47429943 splice donor variant T/A;C snv 4.0E-06 4
rs1114167806
MSH2
0.827 0.200 2 47463096 stop gained ATGA/-;ATGAATGA delins 7
rs63751207
MSH2
0.851 0.240 2 47466718 missense variant G/A;C;T snv 8.0E-06 6
rs63751656
MSH2
0.925 0.160 2 47466807 stop gained A/C;G;T snv 2
rs267607969
MSH2
0.925 0.160 2 47466809 splice donor variant G/A;T snv 4