Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs267607768
rs267607768
MLH1
6 0.851 0.240 3 37011867 splice region variant G/A;C snv 0.700 0
dbSNP: rs267607871
rs267607871
MLH1
6 0.851 0.240 3 37048515 splice acceptor variant A/G snv 4.0E-06 0.700 0
dbSNP: rs267607940
rs267607940
MSH2
6 0.851 0.240 2 47416430 splice donor variant G/A;T snv 0.700 0
dbSNP: rs267607970
rs267607970
MSH2
3 0.925 0.200 2 47470964 splice acceptor variant G/A snv 0.700 0
dbSNP: rs267607990
rs267607990
MSH2
1 1.000 0.160 2 47476362 splice region variant T/A;C snv 0.700 0
dbSNP: rs267608150
rs267608150
PMS2
7 0.851 0.320 7 5997388 stop gained AGGGGG/CTTCACAAC;CTTCACACACA;NNNNNNNNNNN delins 0.700 0
dbSNP: rs267608160
rs267608160
PMS2
4 0.925 0.200 7 5977669 frameshift variant GAAG/- del 0.700 0
dbSNP: rs397514684
rs397514684
MLH1
2 1.000 0.160 3 37000965 missense variant T/C;G snv 0.700 0
dbSNP: rs587776705
rs587776705
MSH6 ; FBXO11
1 1.000 0.160 2 47803633 inframe deletion GTG/- del 0.700 0
dbSNP: rs587776706
rs587776706
MSH6 ; FBXO11
2 1.000 0.160 2 47805692 frameshift variant -/T delins 0.700 0
dbSNP: rs587776715
rs587776715
PMS2
3 0.925 0.200 7 5987544 frameshift variant C/- delins 0.700 0
dbSNP: rs587779190
rs587779190
MSH2
5 0.851 0.240 2 47414344 stop gained G/C;T snv 4.0E-06 0.700 0
dbSNP: rs587779340
rs587779340
PMS2
7 0.882 0.200 7 6003794 splice acceptor variant T/A;C;G snv 4.1E-06 0.700 0
dbSNP: rs587780059
rs587780059
PMS2 ; AIMP2
5 0.882 0.200 7 6009018 start lost A/C;G;T snv 4.0E-06; 4.0E-06; 8.0E-06 0.700 0
dbSNP: rs587780724
rs587780724
PMS2
2 1.000 0.160 7 5987389 stop gained G/C;T snv 0.700 0
dbSNP: rs63749795
rs63749795
MLH1
8 0.807 0.240 3 37028833 stop gained C/T snv 0.700 0
dbSNP: rs63749843
rs63749843
MSH6 ; FBXO11
7 0.827 0.240 2 47803449 stop gained C/A;G;T snv 0.700 0
dbSNP: rs63749849
rs63749849
MSH2
6 0.851 0.240 2 47429812 stop gained C/T snv 0.700 0
dbSNP: rs63749999
rs63749999
MSH6 ; FBXO11
6 0.851 0.240 2 47801086 stop gained C/T snv 1.2E-05 0.700 0
dbSNP: rs63750106
rs63750106
PMS2
2 0.925 0.200 7 5987458 frameshift variant -/T delins 0.700 0
dbSNP: rs63750206
rs63750206
MLH1
9 0.807 0.200 3 36996701 missense variant G/A;C;T snv 0.700 0
dbSNP: rs63750217
rs63750217
MLH1
10 0.807 0.240 3 37048955 missense variant G/A;C snv 0.700 0
dbSNP: rs63750508
rs63750508
MSH2
6 0.851 0.240 2 47475126 stop gained C/G;T snv 0.700 0
dbSNP: rs63750540
rs63750540
MLH1
6 0.851 0.240 3 37025979 stop gained A/T snv 0.700 0
dbSNP: rs63750793
rs63750793
PMS2
2 0.925 0.200 7 6004040 frameshift variant T/- del 0.700 0