Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs786201856
rs786201856
APC
0.776 0.200 5 112815507 stop gained C/T snv
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
0.730 1.000 3 2000 2016
dbSNP: rs137854580
rs137854580
APC
0.827 0.120 5 112827194 stop gained C/G;T snv 2.8E-05
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
0.720 1.000 2 2000 2012
dbSNP: rs62619935
rs62619935
APC
0.807 0.120 5 112792446 stop gained C/G;T snv 4.0E-06
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
0.720 1.000 2 2000 2012
dbSNP: rs72541816
rs72541816
APC
1.000 0.120 5 112843456 missense variant C/G snv 2.9E-03 3.5E-03
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
0.720 1.000 2 1997 2001
dbSNP: rs137854575
rs137854575
APC
0.807 0.120 5 112838399 stop gained C/A;G;T snv 4.7E-04
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
0.710 1.000 16 1992 2009
dbSNP: rs121913224
rs121913224
APC
0.742 0.200 5 112839515 frameshift variant AAAGA/- delins
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
0.710 1.000 13 1992 2018
dbSNP: rs397515734
rs397515734
APC
0.827 0.120 5 112792494 stop gained C/T snv
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
0.710 1.000 12 1992 2014
dbSNP: rs137854567
rs137854567
APC
0.882 0.120 5 112819272 missense variant C/A;G;T snv 4.0E-06; 6.7E-04
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
0.700 1.000 20 1991 2017
dbSNP: rs371113837
rs371113837
APC
1.000 0.120 5 112839469 missense variant C/T snv 8.8E-05 1.0E-04
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
0.700 1.000 20 1991 2017
dbSNP: rs863225349
rs863225349
APC
1.000 0.120 5 112839531 missense variant A/G snv
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
0.700 1.000 20 1991 2017
dbSNP: rs139196838
rs139196838
APC
1.000 0.120 5 112767263 missense variant C/A;T snv 4.0E-06; 3.9E-04
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
0.700 1.000 11 1991 2016
dbSNP: rs587781392
rs587781392
APC
0.827 0.120 5 112780895 stop gained C/G;T snv
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
0.700 1.000 10 1992 2016
dbSNP: rs137854573
rs137854573
APC
0.807 0.120 5 112828889 stop gained C/T snv
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
0.700 1.000 6 1992 2011
dbSNP: rs587782557
rs587782557
APC
0.925 0.120 5 112775632 frameshift variant AT/- del
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
0.700 1.000 6 1993 2013
dbSNP: rs587783035
rs587783035
APC
0.925 0.120 5 112834949 splice acceptor variant A/G;T snv
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
0.700 1.000 6 1997 2013
dbSNP: rs398123118
rs398123118
APC
1.000 0.120 5 112838138 frameshift variant TAGA/- delins
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
0.700 1.000 4 1994 2011
dbSNP: rs587779352
rs587779352
APC
0.882 0.120 5 112838774 frameshift variant ACAAA/- delins
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
0.700 1.000 4 1992 2013
dbSNP: rs587781330
rs587781330
APC
0.925 0.120 5 112841528 frameshift variant ACAA/- delins
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
0.700 1.000 4 1998 2016
dbSNP: rs587783031
rs587783031
APC
0.851 0.120 5 112840255 frameshift variant A/-;AA delins
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
0.700 1.000 4 2004 2012
dbSNP: rs1064794163
rs1064794163
APC
1.000 0.120 5 112827106 splice acceptor variant A/C;G;T snv
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
0.700 1.000 3 2004 2017
dbSNP: rs397515735
rs397515735
APC
0.925 0.120 5 112815554 frameshift variant CT/- delins
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
0.700 1.000 3 1994 2008
dbSNP: rs587783029
rs587783029
APC
0.925 0.120 5 112838880 stop gained C/T snv
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
0.700 1.000 3 1999 2009
dbSNP: rs777848503
rs777848503
APC
1.000 0.120 5 112792444 splice acceptor variant A/G;T snv
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
0.700 1.000 3 2010 2015
dbSNP: rs863225362
rs863225362
APC
0.925 0.120 5 112775693 stop gained C/T snv
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
0.700 1.000 3 1998 2006
dbSNP: rs145945630
rs145945630
APC
0.827 0.120 5 112754960 stop gained C/T snv 2.4E-05
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
0.700 1.000 2 2008 2015