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: 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 10 2005 2016
dbSNP: rs267608150
rs267608150
PMS2
7 0.851 0.320 7 5997388 stop gained AGGGGG/CTTCACAAC;CTTCACACACA;NNNNNNNNNNN delins 0.700 0
dbSNP: rs63750875
rs63750875
MSH2
15 0.742 0.280 2 47475171 missense variant G/A;C snv 1.6E-05 0.700 1.000 10 2002 2014
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 9 2005 2015
dbSNP: rs200640585
rs200640585
PMS2
9 0.790 0.280 7 5992018 stop gained G/A snv 1.6E-05 1.4E-05 0.700 1.000 5 2010 2016
dbSNP: rs63751422
rs63751422
PMS2
7 0.882 0.280 7 5986838 stop gained G/A snv 4.0E-06 7.0E-06 0.700 1.000 5 2005 2016
dbSNP: rs63750695
rs63750695
PMS2
6 0.851 0.280 7 5978675 frameshift variant AAGTT/- delins 0.700 1.000 2 2005 2010
dbSNP: rs63750217
rs63750217
MLH1
10 0.807 0.240 3 37048955 missense variant G/A;C snv 0.700 1.000 15 1996 2015
dbSNP: rs63750610
rs63750610
MLH1
6 0.851 0.240 3 37048563 missense variant C/G;T snv 0.700 1.000 9 2001 2012
dbSNP: rs63749849
rs63749849
MSH2
6 0.851 0.240 2 47429812 stop gained C/T snv 0.700 1.000 8 1995 2015
dbSNP: rs63750508
rs63750508
MSH2
6 0.851 0.240 2 47475126 stop gained C/G;T snv 0.700 1.000 8 1996 2014
dbSNP: rs63750636
rs63750636
MSH2
6 0.851 0.240 2 47476492 stop gained C/T snv 7.0E-06 0.700 1.000 8 2001 2008
dbSNP: rs63751207
rs63751207
MSH2
6 0.851 0.240 2 47466718 missense variant G/A;C;T snv 8.0E-06 0.700 1.000 7 1994 2016
dbSNP: rs267607940
rs267607940
MSH2
6 0.851 0.240 2 47416430 splice donor variant G/A;T snv 0.700 1.000 6 1999 2017
dbSNP: rs63750540
rs63750540
MLH1
6 0.851 0.240 3 37025979 stop gained A/T snv 0.700 1.000 6 1997 2009
dbSNP: rs267607871
rs267607871
MLH1
6 0.851 0.240 3 37048515 splice acceptor variant A/G snv 4.0E-06 0.700 1.000 5 2004 2017
dbSNP: rs63749843
rs63749843
MSH6 ; FBXO11
7 0.827 0.240 2 47803449 stop gained C/A;G;T snv 0.700 1.000 5 2002 2014
dbSNP: rs63750843
rs63750843
MSH2
4 0.925 0.240 2 47410235 stop gained C/G;T snv 1.6E-05 0.700 1.000 5 2005 2015
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 5 2003 2013
dbSNP: rs63751108
rs63751108
MSH2
7 0.827 0.240 2 47429881 stop gained C/T snv 0.700 1.000 5 1993 2014
dbSNP: rs63749999
rs63749999
MSH6 ; FBXO11
6 0.851 0.240 2 47801086 stop gained C/T snv 1.2E-05 0.700 1.000 4 2004 2012
dbSNP: rs63750042
rs63750042
MSH2
6 0.925 0.240 2 47408415 stop gained C/G;T snv 4.0E-06 0.700 1.000 4 2005 2010
dbSNP: rs267607720
rs267607720
MLH1
6 0.851 0.240 3 37000952 splice region variant C/G;T snv 0.700 1.000 3 2005 2016
dbSNP: rs587780062
rs587780062
PMS2
8 0.827 0.240 7 5995614 stop gained G/A;C snv 8.0E-06; 8.0E-05 0.700 1.000 3 2013 2016
dbSNP: rs587778617
rs587778617
PMS2
8 0.807 0.240 7 5987504 stop gained G/A snv 7.0E-06 0.700 1.000 2 2013 2016