Gene: APC ×
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: rs1057519843
rs1057519843
APC
1 5 112839522 frameshift variant AAGATTGGAAC/- del 0.700 1.000 1 2014 2014
dbSNP: rs1057519844
rs1057519844
APC
1 5 112839522 frameshift variant AAGATTGGAACTAGGTCAGC/- del 0.700 1.000 1 2014 2014
dbSNP: rs1057519845
rs1057519845
APC
1 5 112839990 frameshift variant GGACC/- del 0.700 1.000 1 2014 2014
dbSNP: rs1057519846
rs1057519846
APC
1 5 112840263 frameshift variant ATTGATTC/- del 0.700 1.000 1 2014 2014
dbSNP: rs1801155
rs1801155
APC
42 0.649 0.440 5 112839514 missense variant T/A snv 8.0E-06; 2.0E-03 1.2E-03 0.100 0.846 13 1998 2014
dbSNP: rs1463038513
rs1463038513
APC
36 0.658 0.440 5 112839511 frameshift variant TAAA/- delins 0.100 0.917 12 1998 2013
dbSNP: rs777980327
rs777980327
APC
21 0.716 0.280 5 112837567 missense variant A/T snv 4.0E-06 7.0E-06 0.050 1.000 5 2009 2018
dbSNP: rs1801166
rs1801166
APC
17 0.732 0.200 5 112839543 missense variant G/C snv 4.4E-03 5.6E-03 0.040 0.750 4 2003 2009
dbSNP: rs121913333
rs121913333
APC
6 0.882 0.120 5 112838220 stop gained C/A;T snv 0.020 1.000 2 2015 2016
dbSNP: rs121913331
rs121913331
APC
11 0.851 0.120 5 112838934 stop gained C/A;T snv 8.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs121913332
rs121913332
APC
5 0.925 0.120 5 112839942 stop gained C/G;T snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs1288422703
rs1288422703
APC
2 5 112767386 missense variant G/A snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs1441008398
rs1441008398
APC
4 5 112839334 missense variant C/T snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs202199891
rs202199891
APC
3 0.925 0.080 5 112827969 missense variant T/C snv 3.2E-05 2.1E-05 0.010 1.000 1 2020 2020
dbSNP: rs2707765
rs2707765
APC
3 0.925 0.080 5 112786835 intron variant G/A;C;T snv 0.010 1.000 1 2016 2016
dbSNP: rs369999291
rs369999291
APC
2 5 112767315 missense variant G/A snv 0.010 1.000 1 2015 2015
dbSNP: rs454886
rs454886
APC
10 0.763 0.280 5 112810420 intron variant A/G snv 0.26 0.010 1.000 1 2008 2008
dbSNP: rs747418061
rs747418061
APC
10 0.807 0.200 5 112828920 missense variant G/A snv 3.2E-05 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs753302494
rs753302494
APC
1 5 112767272 missense variant T/C snv 8.0E-06 7.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs769708176
rs769708176
APC
2 1.000 0.080 5 112767243 missense variant C/G snv 1.2E-05 0.010 1.000 1 2003 2003
dbSNP: rs876658355
rs876658355
APC
4 0.925 0.120 5 112835073 stop gained C/A;G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs876659517
rs876659517
APC
2 5 112835080 stop gained C/T snv 0.010 1.000 1 2017 2017
dbSNP: rs876660122
rs876660122
APC
1 5 112840683 missense variant A/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs876660427
rs876660427
APC
4 5 112838608 missense variant C/T snv 0.010 1.000 1 2017 2017
dbSNP: rs876660572
rs876660572
APC
2 1.000 0.080 5 112815549 missense variant A/G snv 7.0E-06 0.010 1.000 1 2015 2015