Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 22
rs121434629
PMS2
0.763 0.320 7 6005918 missense variant C/A;T snv 1.6E-04; 8.1E-06 12
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
rs587779340
PMS2
0.882 0.200 7 6003794 splice acceptor variant T/A;C;G snv 4.1E-06 7
rs63749843
MSH6 ; FBXO11
0.827 0.240 2 47803449 stop gained C/A;G;T snv 7
rs63750206
MLH1
0.807 0.200 3 36996701 missense variant G/A;C;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
rs63750875
MSH2
0.742 0.280 2 47475171 missense variant G/A;C snv 1.6E-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
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
rs63751247
MLH1
0.882 0.200 3 37047632 inframe deletion AAG/- delins 5