APC, APC regulator of WNT signaling pathway, 324

N. diseases: 703; N. variants: 681
Disease: Polyposis, Adenomatous Intestinal ×
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: 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: rs121913224
rs121913224 		0.742 0.200 5 112839515 frameshift variant AAAGA/- delins
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms 0.700 1.000 13 1992 2015
dbSNP: rs387906234
rs387906234 		0.827 0.120 5 112839979 frameshift variant AGAG/-;AG delins
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 2016
dbSNP: rs387906236
rs387906236 		0.925 0.120 5 112840205 frameshift variant GA/- delins
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 2011
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: 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: rs1554086030
rs1554086030 		1.000 0.120 5 112840229 frameshift variant TGAAA/- delins
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 2011
dbSNP: rs1554086974
rs1554086974 		1.000 0.120 5 112841364 frameshift variant A/- delins
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: rs863225322
rs863225322 		0.925 0.120 5 112837563 frameshift variant GAGA/-;GA delins
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 1991 2015
dbSNP: rs863225332
rs863225332 		1.000 0.120 5 112838397 stop gained -/A delins
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 2017
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: rs1114167577
rs1114167577 		1.000 0.120 5 112840055 frameshift variant T/-;TT delins
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 1992 2011
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: rs398123122
rs398123122 		0.925 0.120 5 112840063 frameshift variant -/T delins
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 1994 2013
dbSNP: rs587779352
rs587779352 		0.882 0.120 5 112838774 frameshift variant ACAAA/- delins
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 1992 2015
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: rs1060503326
rs1060503326 		1.000 0.120 5 112839170 frameshift variant CA/- delins
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 1991 2010
dbSNP: rs1064794229
rs1064794229 		1.000 0.120 5 112839511 frameshift variant TAAAA/- delins
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: rs1131691142
rs1131691142 		1.000 0.120 5 112841644 frameshift variant C/- delins
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: rs1554084794
rs1554084794 		1.000 0.120 5 112838770 frameshift variant TAAAA/- delins
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