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
rs111052004
MLH1 ; EPM2AIP1
0.925 0.160 3 36993549 start lost T/A;C;G snv 4.0E-06; 4.0E-06 2
rs72481822
EPM2AIP1 ; MLH1
0.925 0.160 3 36993550 start lost G/A;T snv 4
rs63750648
EPM2AIP1 ; MLH1
0.882 0.160 3 36993602 missense variant A/T snv 4
rs63750706
MLH1 ; EPM2AIP1
0.882 0.160 3 36993609 missense variant C/A;T snv 4
rs267607706
EPM2AIP1 ; MLH1
0.882 0.160 3 36993661 missense variant C/A;G;T snv 4.0E-06 3
rs267607713
MLH1
0.882 0.160 3 36996623 splice acceptor variant G/C snv 4
rs587778998
MLH1
0.925 0.160 3 37000991 missense variant A/G snv 8.0E-06 4
rs63750453
MLH1
0.882 0.160 3 37001051 missense variant G/A snv 5
rs63750781
MLH1
0.851 0.160 3 37004444 missense variant C/G;T snv 4.0E-06 6
rs267607771
MLH1
0.925 0.160 3 37014549 splice region variant G/A;T snv 2
rs63750193
MLH1
0.851 0.160 3 37040276 missense variant T/C snv 6
rs63751202
MLH1
0.851 0.160 3 37048578 missense variant T/C;G snv 5
rs63751662
MLH1
0.925 0.160 3 37048609 missense variant G/A;T snv 3
rs63751022
MLH1
0.925 0.160 3 37050523 stop gained G/A snv 3
rs63750971
MLH1
0.925 0.160 3 37050533 frameshift variant CA/-;CACA delins 2
rs267607901
MLH1
0.882 0.160 3 37050633 frameshift variant AA/-;A;AAAA delins 5
rs63750615
MSH2
0.925 0.160 2 47403333 stop gained G/T snv 7.0E-06 3
rs63751429
MSH2
0.925 0.160 2 47408466 missense variant C/T snv 2
rs63750970
MSH2
0.925 0.160 2 47408478 stop gained C/T snv 4
rs587779157
MSH2
0.827 0.240 2 47408486 inframe deletion GAAGTT/- delins 6
rs63750704
MSH2
0.925 0.160 2 47410115 frameshift variant CA/- del 4
rs63750624
MSH2
0.925 0.160 2 47410211 missense variant G/A snv 6
rs63750214
MSH2
0.925 0.160 2 47410215 missense variant T/A;C;G snv 4.0E-06 3
rs63750582
MSH2
0.925 0.160 2 47410217 missense variant G/A;T snv 3
rs587779163
MSH2
0.882 0.160 2 47410220 missense variant T/G snv 4