Source: CLINVAR ×
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: rs121434629
rs121434629
PMS2
12 0.763 0.320 7 6005918 missense variant C/A;T snv 1.6E-04; 8.1E-06 0.800 0
dbSNP: rs121912965
rs121912965
MLH1 ; EPM2AIP1
3 0.882 0.200 3 36993651 missense variant TG/AC mnv 0.800 1.000 0 1995 2015
dbSNP: rs587780062
rs587780062
PMS2
4 0.827 0.240 7 5995614 stop gained G/A;C snv 8.0E-06; 8.0E-05 0.710 1.000 0 2016 2016
dbSNP: rs63750871
rs63750871
PMS2
5 0.882 0.200 7 6002590 stop gained G/A snv 4.0E-06 7.0E-06 0.710 1.000 0 2004 2004
dbSNP: rs63750610
rs63750610
MLH1
6 0.851 0.240 3 37048563 missense variant C/G;T snv 0.700 1.000 11 2001 2014
dbSNP: rs886039646
rs886039646
PMS2
3 1.000 0.160 7 5973467 frameshift variant A/- del 2.8E-05 0.700 1.000 3 2015 2017
dbSNP: rs1554298082
rs1554298082
PMS2
2 1.000 0.160 7 5987601 frameshift variant A/- del 0.700 1.000 1 2013 2013
dbSNP: rs1057515572
rs1057515572
PMS2
8 0.882 0.200 7 5987033 frameshift variant GC/ACT delins 0.700 0
dbSNP: rs121434630
rs121434630
PMS2
1 1.000 0.160 7 6004003 stop gained A/T snv 0.700 0
dbSNP: rs1553647894
rs1553647894
MLH1
4 0.882 0.200 3 37020309 splice acceptor variant G/A;C snv 0.700 0
dbSNP: rs200640585
rs200640585
PMS2
5 0.790 0.280 7 5992018 stop gained G/A snv 1.6E-05 1.4E-05 0.700 0
dbSNP: rs267607720
rs267607720
MLH1
6 0.851 0.240 3 37000952 splice region variant C/G;T snv 0.700 0
dbSNP: rs267607735
rs267607735
MLH1
4 0.851 0.240 3 37001058 splice region variant G/A snv 0.700 0
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