APC, APC regulator of WNT signaling pathway, 324

N. diseases: 95; N. variants: 596
Disease: Polyposis, Adenomatous Intestinal ×
Source: CURATED ×
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: rs137854575
rs137854575 		0.807 0.120 5 112838399 stop gained C/A;G;T snv 4.7E-04
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms 0.700 1.000 19 1991 2015
dbSNP: rs1801155
rs1801155 		0.649 0.440 5 112839514 missense variant T/A snv 8.0E-06; 2.0E-03 1.2E-03
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms 0.700 1.000 14 1997 2014
dbSNP: rs876658667
rs876658667 		1.000 0.120 5 112838740 stop gained G/A snv
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms 0.700 1.000 14 1992 2011
dbSNP: rs1060503310
rs1060503310 		1.000 0.120 5 112837903 stop gained C/G snv
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms 0.700 1.000 10 1992 2015
dbSNP: rs863225311
rs863225311 		0.827 0.120 5 112819347 splice region variant A/C;G snv
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms 0.700 1.000 10 1993 2015
dbSNP: rs876660130
rs876660130 		1.000 0.120 5 112837593 stop gained C/T snv
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms 0.700 1.000 10 1992 2016
dbSNP: rs137854580
rs137854580 		0.827 0.120 5 112827194 stop gained C/G;T snv 2.8E-05
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms 0.700 1.000 9 1993 2016
dbSNP: rs1057517568
rs1057517568 		1.000 0.120 5 112841965 stop gained T/A snv
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms 0.700 1.000 8 1992 2015
dbSNP: rs121913332
rs121913332 		0.925 0.120 5 112839942 stop gained C/G;T snv 4.0E-06
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms 0.700 1.000 8 1993 2016
dbSNP: rs137854573
rs137854573 		0.807 0.120 5 112828889 stop gained C/T snv
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms 0.700 1.000 8 1992 2016
dbSNP: rs1561578889
rs1561578889 		1.000 0.120 5 112838268 stop gained G/T snv
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms 0.700 1.000 8 1992 2010
dbSNP: rs755046558
rs755046558 		1.000 0.120 5 112843105 stop gained G/A snv
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms 0.700 1.000 8 1992 2015
dbSNP: rs1060503355
rs1060503355 		1.000 0.120 5 112842570 stop gained C/T snv
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms 0.700 1.000 7 1992 2015
dbSNP: rs121913331
rs121913331 		0.851 0.120 5 112838934 stop gained C/A;T snv 8.0E-06
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms 0.700 1.000 7 1992 2014
dbSNP: rs1554085081
rs1554085081 		1.000 0.120 5 112839117 stop gained C/T snv
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms 0.700 1.000 7 1992 2016
dbSNP: rs1554086415
rs1554086415 		1.000 0.120 5 112840653 stop gained C/T snv
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms 0.700 1.000 7 1992 2015
dbSNP: rs1554088359
rs1554088359 		1.000 0.120 5 112843032 stop gained C/T snv
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms 0.700 1.000 7 1992 2015
dbSNP: rs1561610839
rs1561610839 		1.000 0.120 5 112842465 stop gained C/G;T snv
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms 0.700 1.000 7 1992 2015
dbSNP: rs372535376
rs372535376 		1.000 0.120 5 112843092 stop gained C/A;G;T snv 8.0E-06
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms 0.700 1.000 7 1992 2015
dbSNP: rs62619935
rs62619935 		0.807 0.120 5 112792446 stop gained C/G;T snv 4.0E-06
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms 0.700 1.000 7 1999 2013
dbSNP: rs752654519
rs752654519 		1.000 0.120 5 112842204 stop gained C/G;T snv 1.2E-05
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms 0.700 1.000 7 1992 2015
dbSNP: rs764527706
rs764527706 		1.000 0.120 5 112842090 stop gained C/A;G;T snv 1.2E-05
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms 0.700 1.000 7 1992 2015
dbSNP: rs863225347
rs863225347 		1.000 0.120 5 112839404 stop gained T/A snv
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms 0.700 1.000 7 1992 2015
dbSNP: rs137854568
rs137854568 		0.882 0.120 5 112815564 stop gained C/T snv
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms 0.700 1.000 6 1991 2013
dbSNP: rs137854574
rs137854574 		0.925 0.120 5 112828919 stop gained C/T snv
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms 0.700 1.000 6 1992 2016