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: rs63750875
rs63750875
MSH2
15 0.742 0.280 2 47475171 missense variant G/A;C snv 1.6E-05 0.760 1.000 12 2004 2012
dbSNP: rs63749993
rs63749993
MSH2
8 0.882 0.200 2 47476424 missense variant T/G snv 0.730 0.833 6 1999 2012
dbSNP: rs63750206
rs63750206
MLH1
9 0.807 0.200 3 36996701 missense variant G/A;C;T snv 0.720 0.947 19 1995 2014
dbSNP: rs63750217
rs63750217
MLH1
10 0.807 0.240 3 37048955 missense variant G/A;C snv 0.720 1.000 15 1975 2017
dbSNP: rs63750138
rs63750138
MSH6 ; FBXO11
6 0.851 0.160 2 47800297 missense variant C/A;G;T snv 2.0E-05; 8.0E-06 0.720 1.000 13 2001 2019
dbSNP: rs587778966
rs587778966
MLH1
3 0.925 0.160 3 36996698 frameshift variant -/C delins 0.720 0.500 2 2006 2009
dbSNP: rs63750781
rs63750781
MLH1
6 0.851 0.160 3 37004444 missense variant C/G;T snv 4.0E-06 0.710 1.000 39 1996 2013
dbSNP: rs63751194
rs63751194
MLH1
7 0.851 0.160 3 37017508 missense variant C/A;T snv 4.0E-06 0.710 1.000 25 1999 2014
dbSNP: rs63751207
rs63751207
MSH2
6 0.851 0.240 2 47466718 missense variant G/A;C;T snv 8.0E-06 0.710 1.000 11 1994 2012
dbSNP: rs786201042
rs786201042
MSH6
7 0.827 0.240 2 47783243 stop gained C/G;T snv 2.5E-05 0.710 1.000 3 2010 2015
dbSNP: rs587778617
rs587778617
PMS2
8 0.807 0.240 7 5987504 stop gained G/A snv 7.0E-06 0.710 1.000 2 2016 2019
dbSNP: rs63750741
rs63750741
MSH6 ; FBXO11
8 0.827 0.200 2 47799329 missense variant T/C snv 1.2E-05 0.710 1.000 2 2004 2005
dbSNP: rs200640585
rs200640585
PMS2
9 0.790 0.280 7 5992018 stop gained G/A snv 1.6E-05 1.4E-05 0.710 1.000 1 2019 2019
dbSNP: rs587778914
rs587778914
MLH1
2 0.925 0.160 3 36996645 missense variant A/C snv 0.710 1.000 1 2012 2012
dbSNP: rs587778937
rs587778937
MLH1
4 0.882 0.160 3 37040291 missense variant T/C;G snv 0.710 1.000 1 2013 2013
dbSNP: rs587779139
rs587779139
MSH2
4 0.925 0.160 2 47476513 stop gained C/G;T snv 0.710 1.000 1 2019 2019
dbSNP: rs63749818
rs63749818
MLH1
2 0.925 0.160 3 37007002 stop gained C/A;G;T snv 0.710 1.000 1 2012 2012
dbSNP: rs63749939
rs63749939
MLH1
6 0.851 0.160 3 36996702 missense variant G/A snv 0.710 < 0.001 1 2009 2009
dbSNP: rs63750042
rs63750042
MSH2
6 0.925 0.240 2 47408415 stop gained C/G;T snv 4.0E-06 0.710 1.000 1 2009 2009
dbSNP: rs63750211
rs63750211
MLH1
5 0.882 0.160 3 37008904 missense variant A/G snv 0.710 1.000 1 2012 2012
dbSNP: rs63750493
rs63750493
MSH2
3 1.000 0.160 2 47475100 stop gained C/G snv 0.710 1.000 1 2011 2011
dbSNP: rs63750693
rs63750693
MLH1
3 0.882 0.160 3 37047652 missense variant T/A;C snv 0.710 1.000 1 2010 2010
dbSNP: rs63750710
rs63750710
MLH1
3 0.925 0.160 3 37020411 missense variant A/C snv 0.710 1.000 1 1997 1997
dbSNP: rs63750899
rs63750899
MLH1
7 0.851 0.200 3 37048562 missense variant C/G;T snv 0.710 1.000 1 2004 2004
dbSNP: rs63751147
rs63751147
MSH2
4 0.925 0.160 2 47416375 missense variant T/C;G snv 0.710 1.000 1 2020 2020