Source: CLINVAR ×
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
rs63749849
MSH2
0.851 0.240 2 47429812 stop gained C/T snv 6
rs63750508
MSH2
0.851 0.240 2 47475126 stop gained C/G;T snv 6
rs63750636
MSH2
0.851 0.240 2 47476492 stop gained C/T snv 7.0E-06 6
rs63750875
MSH2
0.742 0.280 2 47475171 missense variant G/A;C snv 1.6E-05 6
rs786201042
MSH6
0.827 0.240 2 47783243 stop gained C/G;T snv 2.5E-05 6
rs63750695
PMS2
0.851 0.280 7 5978675 frameshift variant AAGTT/- delins 6
rs587780059
AIMP2 ; PMS2
0.882 0.200 7 6009018 start lost A/C;G;T snv 4.0E-06; 4.0E-06; 8.0E-06 5
rs267608078
FBXO11 ; MSH6
0.882 0.160 2 47803501 frameshift variant C/-;CC;CCC delins 5
rs63750617
FBXO11 ; MSH6
0.851 0.160 2 47803473 missense variant C/G;T snv 4.0E-06; 9.5E-05 5
rs267607845
MLH1
0.925 0.160 3 37042267 splice acceptor variant G/A;T snv 5
rs267607901
MLH1
0.882 0.160 3 37050633 frameshift variant AA/-;A;AAAA delins 5
rs63751194
MLH1
0.851 0.160 3 37017508 missense variant C/A;T snv 4.0E-06 5
rs63751247
MLH1
0.882 0.200 3 37047632 inframe deletion AAG/- delins 5
rs63751615
MLH1
0.851 0.200 3 37012098 stop gained C/A;T snv 4.0E-06 5
rs587779190
MSH2
0.851 0.240 2 47414344 stop gained G/C;T snv 4.0E-06 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
rs63751207
MSH2
0.851 0.240 2 47466718 missense variant G/A;C;T snv 8.0E-06 5
rs267608059
MSH6 ; FBXO11
0.882 0.240 2 47801050 stop gained G/T snv 5
rs63749873
MSH6 ; FBXO11
0.882 0.160 2 47795903 stop gained C/G snv 4.0E-06 1.4E-05 5
rs869312769
MSH6 ; FBXO11
0.882 0.160 2 47799334 frameshift variant T/- delins 5
rs200640585
PMS2
0.790 0.280 7 5992018 stop gained G/A snv 1.6E-05 1.4E-05 5
rs63750871
PMS2
0.882 0.200 7 6002590 stop gained G/A snv 4.0E-06 7.0E-06 5
rs63751466
PMS2
0.882 0.200 7 5977629 stop gained G/A;T snv 2.7E-05 5