APC, APC regulator of WNT signaling pathway, 324

N. diseases: 703; N. variants: 681
Disease: Adenomatous Polyposis Coli ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs587782868
rs587782868 		0.827 0.200 5 112827951 missense variant G/A;C snv 3.2E-05
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms 0.030 1.000 3 2003 2008
dbSNP: rs137854580
rs137854580 		0.827 0.120 5 112827194 stop gained C/G;T snv 2.8E-05
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms 0.720 1.000 2 2000 2012
dbSNP: rs62619935
rs62619935 		0.807 0.120 5 112792446 stop gained C/G;T snv 4.0E-06
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms 0.720 1.000 2 2000 2012
dbSNP: rs72541816
rs72541816 		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 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms 0.720 1.000 2 1997 2001
dbSNP: rs145945630
rs145945630 		0.827 0.120 5 112754960 stop gained C/T snv 2.4E-05
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms 0.700 1.000 2 2008 2015
dbSNP: rs1561569606
rs1561569606 		1.000 0.120 5 112835165 splice region variant -/GT delins
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms 0.700 1.000 2 2010 2015
dbSNP: rs774847203
rs774847203 		1.000 0.120 5 112840425 stop gained C/G;T snv 8.0E-06
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms 0.700 1.000 2 2003 2010
dbSNP: rs775126020
rs775126020 		0.925 0.120 5 112819026 stop gained C/G;T snv
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms 0.700 1.000 2 2000 2005
dbSNP: rs397515732
rs397515732 		0.925 0.120 5 112835123 frameshift variant -/A delins
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms 0.700 1.000 1 1997 1997
dbSNP: rs587783030
rs587783030 		1.000 0.120 5 112837697 frameshift variant G/-;GG delins
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms 0.700 1.000 1 2005 2005
dbSNP: rs587783033
rs587783033 		1.000 0.120 5 112839404 frameshift variant T/- delins
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms 0.700 1.000 1 2013 2013
dbSNP: rs727504420
rs727504420 		1.000 0.120 5 112839848 frameshift variant A/- delins
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms 0.700 1.000 1 2002 2002
dbSNP: rs863225371
rs863225371 		1.000 0.120 5 112792474 frameshift variant A/- delins
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms 0.700 1.000 1 2005 2005
dbSNP: rs1179254201
rs1179254201 		0.925 0.200 5 112767213 missense variant T/C snv 4.0E-06
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs1182822563
rs1182822563 		0.925 0.200 5 112828939 synonymous variant A/G snv 4.0E-06
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs11954856
rs11954856 		0.732 0.200 5 112751630 intron variant T/G snv 0.54
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs1331131200
rs1331131200 		0.925 0.200 5 112827976 synonymous variant A/G snv 4.0E-06 7.0E-06
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs150973053
rs150973053 		0.851 0.200 5 112767356 missense variant A/G snv 3.5E-04 2.7E-04
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms 0.010 1.000 1 2008 2008
dbSNP: rs1816769
rs1816769 		1.000 0.120 5 112774082 intron variant G/C snv 0.54
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs2229992
rs2229992 		0.827 0.200 5 112827157 stop gained T/C;G snv 0.58 0.47
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms 0.010 1.000 1 2011 2011
dbSNP: rs374853436
rs374853436 		0.925 0.200 5 112843972 missense variant G/A snv 1.4E-05
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs3846716
rs3846716 		1.000 0.120 5 112723897 intron variant A/G snv 0.52
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms 0.010 1.000 1 2010 2010
dbSNP: rs41115
rs41115 		0.882 0.160 5 112840073 synonymous variant G/A snv 0.65 0.59
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms 0.010 1.000 1 2010 2010
dbSNP: rs454886
rs454886 		0.763 0.280 5 112810420 intron variant A/G snv 0.26
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms 0.010 1.000 1 2008 2008
dbSNP: rs465899
rs465899 		0.882 0.160 5 112841474 synonymous variant G/A snv 0.65 0.60
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms 0.010 1.000 1 2005 2005