Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs587779157
MSH2
0.827 0.240 2 47408486 inframe deletion GAAGTT/- delins 6
rs63749831
MSH2
0.925 0.160 2 47475051 inframe deletion AAT/- del 4.0E-06 4
rs63751197
MLH1
1.000 0.160 3 37020412 inframe deletion ATC/- delins 1
rs587779333
PMS2 ; AIMP2
0.851 0.200 7 6009019 start lost T/A;C;G snv 4.0E-06; 2.8E-05 10
rs587778967
EPM2AIP1 ; MLH1
0.925 0.200 3 36993548 start lost A/C;G snv 8
rs72481822
EPM2AIP1 ; MLH1
0.925 0.160 3 36993550 start lost G/A;T snv 4
rs111052004
MLH1 ; EPM2AIP1
0.925 0.160 3 36993549 start lost T/A;C;G snv 4.0E-06; 4.0E-06 2
rs193922376
MSH2
0.925 0.160 2 47414421 splice region variant A/G;T snv 3.3E-05 4
rs267607771
MLH1
0.925 0.160 3 37014549 splice region variant G/A;T snv 2
rs267607713
MLH1
0.882 0.160 3 36996623 splice acceptor variant G/C snv 4
rs267607943
MSH2
0.925 0.160 2 47429740 splice acceptor variant A/C;G;T snv 4
rs587779198
MSH2
0.925 0.160 2 47416294 splice acceptor variant A/G snv 4
rs1114167818
MSH2
1.000 0.160 2 47482777 splice acceptor variant A/C;G;T snv 4.0E-06 2
rs587779950
MLH1
1.000 0.160 3 36996618 splice acceptor variant G/A;T snv 1
rs63750250
PMS2
0.807 0.280 7 5986933 frameshift variant -/T delins 1.6E-05 4.2E-05 9
rs267607901
MLH1
0.882 0.160 3 37050633 frameshift variant AA/-;A;AAAA delins 5
rs63750086
MSH2
0.882 0.200 2 47429891 frameshift variant AG/- del 5
rs587779185
MSH2
0.925 0.160 2 47414284 frameshift variant TCTG/- delins 4
rs587783056
MSH6 ; FBXO11
0.925 0.160 2 47799685 frameshift variant TT/- delins 1.4E-05 4
rs63749811
MSH2
0.925 0.160 2 47476474 frameshift variant G/- del 4
rs63750393
MSH2
0.925 0.160 2 47471007 frameshift variant GA/-;GAGA delins 4
rs63750704
MSH2
0.925 0.160 2 47410115 frameshift variant CA/- del 4
rs63751618
MSH2
0.925 0.160 2 47480866 frameshift variant AG/- delins 4
rs587779148
MSH2
0.925 0.160 2 47480760 frameshift variant AG/- delins 3
rs63750084
MSH2
1.000 0.160 2 47482786 frameshift variant A/-;AA delins 3