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: 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: rs63750111
rs63750111
MSH6 ; FBXO11
6 0.882 0.200 2 47800914 stop gained C/A;G snv 0.700 1.000 3 2004 2016
dbSNP: rs63750347
rs63750347
MSH2
3 1.000 0.160 2 47412522 stop gained C/G;T snv 0.700 1.000 3 1995 2006
dbSNP: rs63750488
rs63750488
MSH2
4 0.925 0.160 2 47412483 stop gained C/G;T snv 0.700 1.000 3 2003 2013
dbSNP: rs63750490
rs63750490
PMS2
3 1.000 0.160 7 5986925 stop gained T/A snv 0.700 1.000 3 2008 2013
dbSNP: rs63750561
rs63750561
MLH1
3 1.000 0.160 3 37050517 stop gained G/A;C;T snv 2.0E-05 0.700 1.000 3 1999 2010
dbSNP: rs63751058
rs63751058
MSH6 ; FBXO11
3 1.000 0.160 2 47806325 stop gained T/G snv 0.700 1.000 3 2006 2015
dbSNP: rs63751153
rs63751153
MLH1
2 1.000 0.160 3 37025823 stop gained C/G;T snv 0.700 1.000 3 2003 2016
dbSNP: rs63751693
rs63751693
MSH2
3 1.000 0.160 2 47445556 stop gained C/T snv 0.700 1.000 3 1995 2005
dbSNP: rs864622153
rs864622153
MSH6 ; FBXO11
3 1.000 0.160 2 47799674 stop gained C/A;G;T snv 4.0E-06 0.700 1.000 3 2008 2016
dbSNP: rs1114167845
rs1114167845
MSH2
2 2 47414416 stop gained C/A;T snv 0.700 1.000 2 2010 2012
dbSNP: rs398123231
rs398123231
MSH6 ; FBXO11
3 1.000 0.160 2 47804948 stop gained C/A;G;T snv 4.0E-06; 1.6E-05 0.700 1.000 2 2011 2012
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
dbSNP: rs63750330
rs63750330
MSH2
2 2 47466710 stop gained T/A;C snv 3.1E-04 0.700 1.000 2 2005 2014
dbSNP: rs63750493
rs63750493
MSH2
3 1.000 0.160 2 47475100 stop gained C/G snv 0.700 1.000 2 2005 2015
dbSNP: rs63750574
rs63750574
MSH2
2 1.000 0.160 2 47410337 stop gained G/A;T snv 4.0E-06 0.700 1.000 2 2004 2013
dbSNP: rs63750623
rs63750623
MSH2
4 0.925 0.160 2 47480707 stop gained C/G;T snv 0.700 1.000 2 1998 2011
dbSNP: rs63750951
rs63750951
MSH2
3 1.000 0.160 2 47403372 stop gained C/G;T snv 4.3E-06; 4.3E-06 0.700 1.000 2 2003 2011
dbSNP: rs63751099
rs63751099
MSH2
2 1.000 0.160 2 47403219 stop gained C/A;T snv 0.700 1.000 2 2005 2010
dbSNP: rs63751411
rs63751411
MSH2
4 0.925 0.240 2 47471041 stop gained G/A;T snv 0.700 1.000 2 1998 2005
dbSNP: rs730881762
rs730881762
MSH2
3 1.000 0.160 2 47476402 stop gained C/G;T snv 4.0E-06 0.700 1.000 2 2003 2014
dbSNP: rs773262801
rs773262801
MSH6 ; FBXO11
1 2 47805636 stop gained -/GAAT delins 4.0E-06 0.700 1.000 2 2008 2014
dbSNP: rs786201042
rs786201042
MSH6
7 0.827 0.240 2 47783243 stop gained C/G;T snv 2.5E-05 0.700 1.000 2 2010 2015
dbSNP: rs786201047
rs786201047
PMS2
2 7 5995628 stop gained G/C snv 7.0E-06 0.700 1.000 2 2016 2017
dbSNP: rs786201066
rs786201066
MSH2
2 2 47445622 stop gained C/T snv 0.700 1.000 2 2003 2012