Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs587779190
MSH2
0.851 0.240 2 47414344 stop gained G/C;T snv 4.0E-06 5
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
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
rs63751615
MLH1
0.851 0.200 3 37012098 stop gained C/A;T snv 4.0E-06 5
rs876660943
FBXO11 ; MSH6
0.882 0.240 2 47806359 splice donor variant G/T snv 7.0E-06 5
rs1553647894
MLH1
0.882 0.200 3 37020309 splice acceptor variant G/A;C snv 4
rs267607735
MLH1
0.851 0.240 3 37001058 splice region variant G/A snv 4
rs267608161
PMS2
0.851 0.200 7 5982885 missense variant C/T snv 4.0E-05 2.8E-05 4
rs587780062
PMS2
0.827 0.240 7 5995614 stop gained G/A;C snv 8.0E-06; 8.0E-05 4
rs63750899
MLH1
0.851 0.200 3 37048562 missense variant C/G;T snv 4
rs876659736
PMS2
0.925 0.200 7 5995612 missense variant T/A;C snv 8.0E-06 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
rs397514684
MLH1
1.000 0.160 3 37000965 missense variant T/C;G snv 2
rs587779342
PMS2
0.925 0.200 7 5999199 missense variant T/G snv 8.0E-06 2
rs587780724
PMS2
1.000 0.160 7 5987389 stop gained G/C;T snv 2
rs869320619
PMS2
1.000 0.160 7 5986763 missense variant T/C snv 2
rs121434630
PMS2
1.000 0.160 7 6004003 stop gained A/T snv 1
rs188006077
PMS2
1.000 0.160 7 6003724 missense variant G/A snv 1.3E-05 1
rs267607990
MSH2
1.000 0.160 2 47476362 splice region variant T/A;C snv 1
rs1057515572
PMS2
0.882 0.200 7 5987033 frameshift variant GC/ACT delins 8
rs267608150
PMS2
0.851 0.320 7 5997388 stop gained AGGGGG/CTTCACAAC;CTTCACACACA;NNNNNNNNNNN delins 7
rs63751247
MLH1
0.882 0.200 3 37047632 inframe deletion AAG/- delins 5
rs587776715
PMS2
0.925 0.200 7 5987544 frameshift variant C/- delins 3