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: 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: rs63749923
rs63749923
MLH1
2 1.000 0.160 3 37028902 stop gained C/T snv 0.700 1.000 5 1998 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: rs63750909
rs63750909
MSH6 ; FBXO11
4 0.925 0.160 2 47799427 stop gained C/A;G;T snv 4.0E-06 0.700 1.000 5 2004 2012
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: rs63751317
rs63751317
MSH2
3 1.000 0.160 2 47475233 stop gained C/A;G;T snv 0.700 1.000 5 1996 2017
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: rs63751469
rs63751469
MSH2
3 1.000 0.160 2 47482779 stop gained C/A;T snv 4.0E-06 0.700 1.000 5 1996 2008
dbSNP: rs1553408388
rs1553408388
MSH6
2 2 47783453 stop gained G/T snv 0.700 1.000 4 2006 2015
dbSNP: rs1553665866
rs1553665866
MLH1
1 3 37050594 stop gained G/T snv 0.700 1.000 4 1999 2010
dbSNP: rs201451115
rs201451115
PMS2
4 0.925 0.160 7 5986826 stop gained T/A snv 4.0E-06 0.700 1.000 4 2008 2016
dbSNP: rs573125799
rs573125799
PMS2
3 1.000 0.160 7 5997364 stop gained G/A;T snv 3.6E-05 0.700 1.000 4 2013 2016
dbSNP: rs587779212
rs587779212
MSH6 ; FBXO11
3 1.000 0.160 2 47799466 stop gained C/A;T snv 4.0E-06 0.700 1.000 4 2010 2016
dbSNP: rs587782562
rs587782562
MSH6 ; FBXO11
3 1.000 0.160 2 47803577 stop gained -/ATGA delins 7.0E-06 0.700 1.000 4 2009 2015
dbSNP: rs63749854
rs63749854
MSH2
3 1.000 0.160 2 47478336 stop gained G/T snv 0.700 1.000 4 2004 2017
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: rs63751127
rs63751127
MSH6 ; FBXO11
5 0.882 0.200 2 47800177 stop gained C/A;T snv 4.0E-06; 4.0E-06 0.700 1.000 4 2004 2014
dbSNP: rs63751221
rs63751221
MLH1
4 0.925 0.160 3 37001045 stop gained C/T snv 7.0E-06 0.700 1.000 4 1999 2004
dbSNP: rs1230083633
rs1230083633
MSH2
2 1.000 0.160 2 47482800 stop gained G/A;C;T snv 8.0E-06 0.700 1.000 3 1998 2008
dbSNP: rs1554293810
rs1554293810
PMS2
2 7 5977620 stop gained G/A snv 0.700 1.000 3 1999 2010
dbSNP: rs200492211
rs200492211
MSH6 ; FBXO11
3 1.000 0.160 2 47801125 stop gained C/G;T snv 4.0E-06 0.700 1.000 3 2010 2016
dbSNP: rs587778618
rs587778618
PMS2
2 7 5987078 stop gained G/A;T snv 8.0E-06; 1.2E-05 0.700 1.000 3 2010 2016
dbSNP: rs587779267
rs587779267
MSH6 ; FBXO11
3 1.000 0.160 2 47804958 stop gained G/T snv 7.0E-06 0.700 1.000 3 2014 2016