APC, APC regulator of WNT signaling pathway, 324

N. diseases: 703; N. variants: 681
Disease: FAMILIAL ADENOMATOUS POLYPOSIS, ATTENUATED (disorder) ×
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: rs1463038513
rs1463038513 		0.658 0.440 5 112839511 frameshift variant TAAA/- delins
CUI: C2674616
Disease: FAMILIAL ADENOMATOUS POLYPOSIS, ATTENUATED (disorder)
FAMILIAL ADENOMATOUS POLYPOSIS, ATTENUATED (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs1801155
rs1801155 		0.649 0.440 5 112839514 missense variant T/A snv 8.0E-06; 2.0E-03 1.2E-03
CUI: C2674616
Disease: FAMILIAL ADENOMATOUS POLYPOSIS, ATTENUATED (disorder)
FAMILIAL ADENOMATOUS POLYPOSIS, ATTENUATED (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs1801166
rs1801166 		0.732 0.200 5 112839543 missense variant G/C snv 4.4E-03 5.6E-03
CUI: C2674616
Disease: FAMILIAL ADENOMATOUS POLYPOSIS, ATTENUATED (disorder)
FAMILIAL ADENOMATOUS POLYPOSIS, ATTENUATED (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms 0.010 1.000 1 2009 2009
dbSNP: rs753314927
rs753314927 		0.882 0.200 5 112838644 missense variant A/G;T snv
CUI: C2674616
Disease: FAMILIAL ADENOMATOUS POLYPOSIS, ATTENUATED (disorder)
FAMILIAL ADENOMATOUS POLYPOSIS, ATTENUATED (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms 0.010 1.000 1 2008 2008
dbSNP: rs876658325
rs876658325 		0.925 0.120 5 112775687 stop gained C/T snv
CUI: C2674616
Disease: FAMILIAL ADENOMATOUS POLYPOSIS, ATTENUATED (disorder)
FAMILIAL ADENOMATOUS POLYPOSIS, ATTENUATED (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms 0.010 1.000 1 2012 2012