Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs63750217
MLH1
0.807 0.240 3 37048955 missense variant G/A;C snv 10
rs63750206
MLH1
0.807 0.200 3 36996701 missense variant G/A;C;T snv 9
rs63749795
MLH1
0.807 0.240 3 37028833 stop gained C/T snv 8
rs63750899
MLH1
0.851 0.200 3 37048562 missense variant C/G;T snv 7
rs63751194
MLH1
0.851 0.160 3 37017508 missense variant C/A;T snv 4.0E-06 7
rs267607720
MLH1
0.851 0.240 3 37000952 splice region variant C/G;T snv 6
rs267607768
MLH1
0.851 0.240 3 37011867 splice region variant G/A;C snv 6
rs267607871
MLH1
0.851 0.240 3 37048515 splice acceptor variant A/G snv 4.0E-06 6
rs63749939
MLH1
0.851 0.160 3 36996702 missense variant G/A snv 6
rs63750193
MLH1
0.851 0.160 3 37040276 missense variant T/C snv 6
rs63750540
MLH1
0.851 0.240 3 37025979 stop gained A/T snv 6
rs63750610
MLH1
0.851 0.240 3 37048563 missense variant C/G;T snv 6
rs63750781
MLH1
0.851 0.160 3 37004444 missense variant C/G;T snv 4.0E-06 6
rs63751275
MLH1
0.851 0.240 3 37048973 missense variant C/A;G;T snv 1.2E-05; 2.0E-05 6
rs63751615
MLH1
0.851 0.200 3 37012098 stop gained C/A;T snv 4.0E-06 6
rs267607901
MLH1
0.882 0.160 3 37050633 frameshift variant AA/-;A;AAAA delins 5
rs63750211
MLH1
0.882 0.160 3 37008904 missense variant A/G snv 5
rs63750453
MLH1
0.882 0.160 3 37001051 missense variant G/A snv 5
rs63751012
EPM2AIP1 ; MLH1
0.851 0.200 3 36993656 stop gained G/A;C;T snv 5
rs63751094
MLH1
0.925 0.160 3 36996624 stop lost A/G;T snv 5
rs63751247
MLH1
0.882 0.200 3 37047632 inframe deletion AAG/- delins 5
rs63751428
MLH1
0.882 0.160 3 36996686 stop gained C/A;T snv 5
rs193922370
MLH1
0.925 0.160 3 37008813 splice acceptor variant G/A;C;T snv 4
rs267607767
MLH1
0.925 0.160 3 37012009 splice acceptor variant A/C;G snv 4
rs267607853
MLH1
0.925 0.160 3 37042332 splice donor variant G/A;C;T snv 4