Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs63749849
MSH2
0.851 0.240 2 47429812 stop gained C/T snv 6
rs63749999
FBXO11 ; MSH6
0.851 0.240 2 47801086 stop gained C/T snv 1.2E-05 6
rs63750636
MSH2
0.851 0.240 2 47476492 stop gained C/T snv 7.0E-06 6
rs267608161
PMS2
0.851 0.200 7 5982885 missense variant C/T snv 4.0E-05 2.8E-05 4
rs121913377
BRAF
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 2
rs63751422
PMS2
0.882 0.280 7 5986838 stop gained G/A snv 4.0E-06 7.0E-06 7
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
rs267607735
MLH1
0.851 0.240 3 37001058 splice region variant G/A snv 4
rs267607970
MSH2
0.925 0.200 2 47470964 splice acceptor variant G/A snv 3
rs587779338
PMS2
0.851 0.200 7 5977589 missense variant G/A snv 1.0E-05 2.1E-05 3
rs188006077
PMS2
1.000 0.160 7 6003724 missense variant G/A snv 1.3E-05 1
rs267607768
MLH1
0.851 0.240 3 37011867 splice region variant G/A;C snv 6
rs63750217
MLH1
0.807 0.240 3 37048955 missense variant G/A;C snv 6
rs63750875
MSH2
0.742 0.280 2 47475171 missense variant G/A;C snv 1.6E-05 6
rs1553647894
MLH1
0.882 0.200 3 37020309 splice acceptor variant G/A;C snv 4
rs587780062
PMS2
0.827 0.240 7 5995614 stop gained G/A;C snv 8.0E-06; 8.0E-05 4
rs63750206
MLH1
0.807 0.200 3 36996701 missense variant G/A;C;T snv 7
rs267607940
MSH2
0.851 0.240 2 47416430 splice donor variant G/A;T snv 6
rs63751466
PMS2
0.882 0.200 7 5977629 stop gained G/A;T snv 2.7E-05 5
rs587779190
MSH2
0.851 0.240 2 47414344 stop gained G/C;T snv 4.0E-06 5
rs587780724
PMS2
1.000 0.160 7 5987389 stop gained G/C;T snv 2
rs876660943
FBXO11 ; MSH6
0.882 0.240 2 47806359 splice donor variant G/T snv 7.0E-06 5
rs267608160
PMS2
0.925 0.200 7 5977669 frameshift variant GAAG/- del 4
rs1057515572
PMS2
0.882 0.200 7 5987033 frameshift variant GC/ACT delins 8