Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs587776715
PMS2
0.925 0.200 7 5987544 frameshift variant C/- delins 3
rs587779338
PMS2
0.851 0.200 7 5977589 missense variant G/A snv 1.0E-05 2.1E-05 3
rs63751449
MSH2
0.925 0.200 2 47410178 frameshift variant A/-;AA delins 3
rs587779342
PMS2
0.925 0.200 7 5999199 missense variant T/G snv 8.0E-06 2
rs63750106
PMS2
0.925 0.200 7 5987458 frameshift variant -/T delins 2
rs63750793
PMS2
0.925 0.200 7 6004040 frameshift variant T/- del 2
rs63749843
MSH6 ; FBXO11
0.827 0.240 2 47803449 stop gained C/A;G;T snv 7
rs63751108
MSH2
0.827 0.240 2 47429881 stop gained C/T snv 7
rs267607720
MLH1
0.851 0.240 3 37000952 splice region variant C/G;T snv 6
rs267607768
MLH1
0.851 0.240 3 37011867 splice region variant G/A;C snv 6
rs267607871
MLH1
0.851 0.240 3 37048515 splice acceptor variant A/G snv 4.0E-06 6
rs267607940
MSH2
0.851 0.240 2 47416430 splice donor variant G/A;T snv 6
rs63749795
MLH1
0.807 0.240 3 37028833 stop gained C/T snv 6
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
rs63750217
MLH1
0.807 0.240 3 37048955 missense variant G/A;C snv 6
rs63750508
MSH2
0.851 0.240 2 47475126 stop gained C/G;T snv 6
rs63750540
MLH1
0.851 0.240 3 37025979 stop gained A/T snv 6
rs63750610
MLH1
0.851 0.240 3 37048563 missense variant C/G;T snv 6
rs63750636
MSH2
0.851 0.240 2 47476492 stop gained C/T snv 7.0E-06 6
rs63751017
FBXO11 ; MSH6
0.851 0.240 2 47800714 stop gained C/A;T snv 1.4E-05 6
rs63751275
MLH1
0.851 0.240 3 37048973 missense variant C/A;G;T snv 1.2E-05; 2.0E-05 6
rs786201042
MSH6
0.827 0.240 2 47783243 stop gained C/G;T snv 2.5E-05 6
rs587779190
MSH2
0.851 0.240 2 47414344 stop gained G/C;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