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: rs1561604514
rs1561604514 		1.000 0.120 5 112841605 frameshift variant -/TT ins
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: rs1561577342
rs1561577342 		1.000 0.120 5 112838060 frameshift variant -/A ins
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs387906233
rs387906233 		1.000 0.120 5 112835092 frameshift variant -/A ins
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs878853419
rs878853419 		1.000 0.120 5 112835073 stop gained CC/AT mnv
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs730882135
rs730882135 		1.000 0.120 5 112838743 frameshift variant C/- del 7.0E-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 11 1992 2015
dbSNP: rs1561594547
rs1561594547 		1.000 0.120 5 112840264 frameshift variant TT/- del
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: rs587779803
rs587779803 		1.000 0.120 5 112841977 frameshift variant C/- del
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: rs1554085005
rs1554085005 		0.925 0.120 5 112839038 frameshift variant TGAA/- del
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 2015
dbSNP: rs1561580546
rs1561580546 		1.000 0.120 5 112838478 frameshift variant G/- del
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 1994 2014
dbSNP: rs1561605385
rs1561605385 		1.000 0.120 5 112841731 frameshift variant C/- del
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 2011
dbSNP: rs587782557
rs587782557 		0.925 0.120 5 112775632 frameshift variant AT/- del
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 1993 2013
dbSNP: rs1554087036
rs1554087036 		1.000 0.120 5 112841454 frameshift variant TTTG/- del
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms 0.700 1.000 4 1998 2016
dbSNP: rs1561587604
rs1561587604 		1.000 0.120 5 112839376 frameshift variant C/- del
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms 0.700 1.000 4 1992 2014
dbSNP: rs886042600
rs886042600 		1.000 0.120 5 112838077 frameshift variant C/- del
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms 0.700 1.000 4 2001 2013
dbSNP: rs1554085303
rs1554085303 		1.000 0.120 5 112839377 frameshift variant TT/- del
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms 0.700 1.000 3 1993 2007
dbSNP: rs1561577476
rs1561577476 		1.000 0.120 5 112838079 frameshift variant A/- del
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms 0.700 1.000 3 2005 2013
dbSNP: rs1561581273
rs1561581273 		1.000 0.120 5 112838593 frameshift variant ACCCAGC/- del
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms 0.700 1.000 3 1992 2005
dbSNP: rs1561590380
rs1561590380 		1.000 0.120 5 112839761 frameshift variant T/- del
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms 0.700 1.000 3 2002 2013
dbSNP: rs587782303
rs587782303 		1.000 0.120 5 112837598 frameshift variant C/- del
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms 0.700 1.000 3 2010 2016
dbSNP: rs878853428
rs878853428 		1.000 0.120 5 112767217 frameshift variant T/- del
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms 0.700 1.000 2 2007 2010
dbSNP: rs1408646734
rs1408646734 		1.000 0.120 5 112839198 frameshift variant TCTG/- del
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms 0.700 1.000 1 1998 1998
dbSNP: rs1561540666
rs1561540666 		1.000 0.120 5 112819021 frameshift variant T/- del
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms 0.700 1.000 1 2010 2010
dbSNP: rs1561568510
rs1561568510 		1.000 0.120 5 112835036 frameshift variant A/- del
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms 0.700 1.000 1 2008 2008
dbSNP: rs863225363
rs863225363 		1.000 0.120 5 112840739 frameshift variant C/- del
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms 0.700 1.000 1 2013 2013
dbSNP: rs1064794092
rs1064794092 		1.000 0.120 5 112827225 frameshift variant C/- del
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms 0.700 0