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: rs863225349
rs863225349
APC
2 1.000 0.120 5 112839531 missense variant A/G snv 0.700 1.000 20 1991 2017
dbSNP: rs121913224
rs121913224
APC
14 0.742 0.200 5 112839515 frameshift variant AAAGA/- delins 0.710 1.000 13 1992 2018
dbSNP: rs397515734
rs397515734
APC
7 0.827 0.120 5 112792494 stop gained C/T snv 0.710 1.000 12 1992 2014
dbSNP: rs587781392
rs587781392
APC
7 0.827 0.120 5 112780895 stop gained C/G;T snv 0.700 1.000 10 1992 2016
dbSNP: rs137854573
rs137854573
APC
10 0.807 0.120 5 112828889 stop gained C/T snv 0.700 1.000 6 1992 2011
dbSNP: rs1463038513
rs1463038513
APC
36 0.658 0.440 5 112839511 frameshift variant TAAA/- delins 0.060 1.000 6 1998 2015
dbSNP: rs587782557
rs587782557
APC
3 0.925 0.120 5 112775632 frameshift variant AT/- del 0.700 1.000 6 1993 2013
dbSNP: rs587783035
rs587783035
APC
2 0.925 0.120 5 112834949 splice acceptor variant A/G;T snv 0.700 1.000 6 1997 2013
dbSNP: rs398123118
rs398123118
APC
2 1.000 0.120 5 112838138 frameshift variant TAGA/- delins 0.700 1.000 4 1994 2011
dbSNP: rs587779352
rs587779352
APC
5 0.882 0.120 5 112838774 frameshift variant ACAAA/- delins 0.700 1.000 4 1992 2013
dbSNP: rs587781330
rs587781330
APC
3 0.925 0.120 5 112841528 frameshift variant ACAA/- delins 0.700 1.000 4 1998 2016
dbSNP: rs587783031
rs587783031
APC
7 0.851 0.120 5 112840255 frameshift variant A/-;AA delins 0.700 1.000 4 2004 2012
dbSNP: rs1064794163
rs1064794163
APC
2 1.000 0.120 5 112827106 splice acceptor variant A/C;G;T snv 0.700 1.000 3 2004 2017
dbSNP: rs397515735
rs397515735
APC
3 0.925 0.120 5 112815554 frameshift variant CT/- delins 0.700 1.000 3 1994 2008
dbSNP: rs587783029
rs587783029
APC
3 0.925 0.120 5 112838880 stop gained C/T snv 0.700 1.000 3 1999 2009
dbSNP: rs777848503
rs777848503
APC
1 1.000 0.120 5 112792444 splice acceptor variant A/G;T snv 0.700 1.000 3 2010 2015
dbSNP: rs786201856
rs786201856
APC
10 0.776 0.200 5 112815507 stop gained C/T snv 0.730 1.000 3 2000 2016
dbSNP: rs863225362
rs863225362
APC
2 0.925 0.120 5 112775693 stop gained C/T snv 0.700 1.000 3 1998 2006
dbSNP: rs1057517457
rs1057517457
MUTYH
6 0.851 0.120 1 45332804 frameshift variant GCCAGCCCAG/- delins 7.0E-06 0.020 1.000 2 2013 2015
dbSNP: rs121913530
rs121913530
KRAS
63 0.583 0.640 12 25245351 missense variant C/A;G;T snv 0.020 1.000 2 2013 2015
dbSNP: rs121918069
rs121918069
TTR
3 0.925 0.200 18 31595152 missense variant T/A;G snv 0.020 1.000 2 2007 2008
dbSNP: rs121918075
rs121918075
TTR
15 0.752 0.280 18 31598632 missense variant A/G snv 0.020 1.000 2 2005 2014
dbSNP: rs1561569606
rs1561569606
APC
1 1.000 0.120 5 112835165 splice region variant -/GT delins 0.700 1.000 2 2010 2015
dbSNP: rs565453
rs565453 		4 0.882 0.160 5 112849696 intron variant A/C;G snv 0.020 1.000 2 2010 2013
dbSNP: rs775126020
rs775126020
APC
3 0.925 0.120 5 112819026 stop gained C/G;T snv 0.700 1.000 2 2000 2005