Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs587776706
MSH6 ; FBXO11
1.000 0.160 2 47805692 frameshift variant -/T delins 2
rs63750106
PMS2
0.925 0.200 7 5987458 frameshift variant -/T delins 2
rs886039646
PMS2
1.000 0.160 7 5973467 frameshift variant A/- del 2.8E-05 3
rs1554298082
PMS2
1.000 0.160 7 5987601 frameshift variant A/- del 2
rs63751449
MSH2
0.925 0.200 2 47410178 frameshift variant A/-;AA delins 3
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 22
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
rs267607871
MLH1
0.851 0.240 3 37048515 splice acceptor variant A/G snv 4.0E-06 6
rs63750540
MLH1
0.851 0.240 3 37025979 stop gained A/T snv 6
rs121434630
PMS2
1.000 0.160 7 6004003 stop gained A/T snv 1
rs63751247
MLH1
0.882 0.200 3 37047632 inframe deletion AAG/- delins 5
rs267608150
PMS2
0.851 0.320 7 5997388 stop gained AGGGGG/CTTCACAAC;CTTCACACACA;NNNNNNNNNNN delins 7
rs587776715
PMS2
0.925 0.200 7 5987544 frameshift variant C/- delins 3
rs63749843
MSH6 ; FBXO11
0.827 0.240 2 47803449 stop gained C/A;G;T snv 7
rs63751275
MLH1
0.851 0.240 3 37048973 missense variant C/A;G;T snv 1.2E-05; 2.0E-05 6
rs121434629
PMS2
0.763 0.320 7 6005918 missense variant C/A;T snv 1.6E-04; 8.1E-06 12
rs63751017
FBXO11 ; MSH6
0.851 0.240 2 47800714 stop gained C/A;T snv 1.4E-05 6
rs63751615
MLH1
0.851 0.200 3 37012098 stop gained C/A;T snv 4.0E-06 5
rs267607720
MLH1
0.851 0.240 3 37000952 splice region variant C/G;T snv 6
rs63750508
MSH2
0.851 0.240 2 47475126 stop gained C/G;T snv 6
rs63750610
MLH1
0.851 0.240 3 37048563 missense variant C/G;T snv 6
rs786201042
MSH6
0.827 0.240 2 47783243 stop gained C/G;T snv 2.5E-05 6
rs63750899
MLH1
0.851 0.200 3 37048562 missense variant C/G;T snv 4
rs63751108
MSH2
0.827 0.240 2 47429881 stop gained C/T snv 7
rs63749795
MLH1
0.807 0.240 3 37028833 stop gained C/T snv 6