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: rs63751192
rs63751192
MSH2
2 0.925 0.160 2 47429878 frameshift variant -/CGAC delins 0.710 1.000 1 2020 2020
dbSNP: rs63751608
rs63751608
MLH1
3 0.925 0.160 3 37042321 missense variant T/C snv 0.710 1.000 1 2005 2005
dbSNP: rs63751624
rs63751624
MSH2
4 0.925 0.160 2 47480871 missense variant G/A;C snv 0.710 1.000 1 2019 2019
dbSNP: rs267608078
rs267608078
MSH6 ; FBXO11
5 0.882 0.160 2 47803501 frameshift variant C/-;CC;CCC delins 0.700 1.000 33 1997 2017
dbSNP: rs121434629
rs121434629
PMS2
13 0.763 0.320 7 6005918 missense variant C/A;T snv 1.6E-04; 8.1E-06 0.700 1.000 25 1995 2018
dbSNP: rs63749831
rs63749831
MSH2
4 0.925 0.160 2 47475051 inframe deletion AAT/- del 4.0E-06 0.700 1.000 19 1996 2017
dbSNP: rs63749932
rs63749932
MSH2
5 0.882 0.160 2 47476399 stop gained C/G;T snv 1.6E-05; 4.0E-06 0.700 1.000 17 1998 2016
dbSNP: rs63751247
rs63751247
MLH1
5 0.882 0.200 3 37047632 inframe deletion AAG/- delins 0.700 1.000 16 1997 2018
dbSNP: rs587779075
rs587779075
MSH2
5 0.882 0.200 2 47429830 stop gained C/T snv 0.700 1.000 15 1997 2013
dbSNP: rs267608150
rs267608150
PMS2
7 0.851 0.320 7 5997388 stop gained AGGGGG/CTTCACAAC;CTTCACACACA;NNNNNNNNNNN delins 0.700 1.000 14 2006 2016
dbSNP: rs63749795
rs63749795
MLH1
8 0.807 0.240 3 37028833 stop gained C/T snv 0.700 1.000 14 1992 2016
dbSNP: rs63750828
rs63750828
MSH2
4 0.925 0.160 2 47416351 missense variant G/A snv 0.700 1.000 13 2003 2017
dbSNP: rs63750871
rs63750871
PMS2
5 0.882 0.200 7 6002590 stop gained G/A snv 4.0E-06 7.0E-06 0.700 1.000 13 1995 2016
dbSNP: rs63751275
rs63751275
MLH1
6 0.851 0.240 3 37048973 missense variant C/A;G;T snv 1.2E-05; 2.0E-05 0.700 1.000 13 2002 2017
dbSNP: rs63751711
rs63751711
MLH1
4 0.925 0.160 3 37012099 missense variant G/A;T snv 0.700 1.000 13 1996 2016
dbSNP: rs63749843
rs63749843
MSH6 ; FBXO11
7 0.827 0.240 2 47803449 stop gained C/A;G;T snv 0.700 1.000 12 2002 2018
dbSNP: rs63749909
rs63749909
MLH1
4 0.925 0.160 3 37028891 missense variant T/A;C snv 7.0E-06 0.700 1.000 12 1996 2015
dbSNP: rs63750617
rs63750617
MSH6 ; FBXO11
6 0.851 0.160 2 47803473 missense variant C/G;T snv 4.0E-06; 9.5E-05 0.700 1.000 12 2006 2017
dbSNP: rs63750792
rs63750792
MLH1 ; EPM2AIP1
4 0.925 0.160 3 36993630 missense variant C/T snv 0.700 1.000 12 1999 2013
dbSNP: rs63751017
rs63751017
MSH6 ; FBXO11
6 0.851 0.240 2 47800714 stop gained C/A;T snv 1.4E-05 0.700 1.000 12 2003 2017
dbSNP: rs267608094
rs267608094
MSH6 ; FBXO11
4 0.925 0.160 2 47806641 stop gained C/A;T snv 4.1E-06; 4.1E-06 0.700 1.000 11 2005 2016
dbSNP: rs63750250
rs63750250
PMS2
9 0.807 0.280 7 5986933 frameshift variant -/T delins 1.6E-05 4.2E-05 0.700 1.000 11 2005 2016
dbSNP: rs63750453
rs63750453
MLH1
5 0.882 0.160 3 37001051 missense variant G/A snv 0.700 1.000 11 2001 2015
dbSNP: rs63750437
rs63750437
MLH1
4 0.925 0.160 3 37000977 missense variant G/A;C snv 0.700 1.000 10 1997 2014
dbSNP: rs63750641
rs63750641
MLH1
2 0.925 0.160 3 37000997 missense variant A/G snv 0.700 1.000 10 1999 2010