APC, APC regulator of WNT signaling pathway, 324

N. diseases: 703; N. variants: 681
Disease: FAMILIAL ADENOMATOUS POLYPOSIS, ATTENUATED (disorder) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs876658325
rs876658325
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C2674616
Disease:
FAMILIAL ADENOMATOUS POLYPOSIS, ATTENUATED (disorder) 		0.010 GeneticVariation BEFREE This report focuses on a family with attenuated familial adenomatous polyposis (AFAP) with exon 4 mutation, c.481C>T p.Q161X of the APC gene. 23244118 2012