Gene: APC ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs786201291
rs786201291
APC
G 0.700 GeneticVariation CLINVAR Germline APC mutation spectrum derived from 863 genomic variations identified through a 15-year medical genetics service to French patients with FAP. 20685668

2010
dbSNP: rs786201291
rs786201291
APC
G 0.700 GeneticVariation CLINVAR APC germline mutations in individuals being evaluated for familial adenomatous polyposis: a review of the Mayo Clinic experience with 1591 consecutive tests. 23159591

2013
dbSNP: rs863225311
rs863225311
APC
G 0.700 GeneticVariation CLINVAR Germline mutations in APC and MUTYH are responsible for the majority of families with attenuated familial adenomatous polyposis. 17489848

2007
dbSNP: rs863225311
rs863225311
APC
G 0.700 GeneticVariation CLINVAR APC germline mutations in individuals being evaluated for familial adenomatous polyposis: a review of the Mayo Clinic experience with 1591 consecutive tests. 23159591

2013
dbSNP: rs863225311
rs863225311
APC
G 0.700 GeneticVariation CLINVAR Familial adenomatous polyposis: experience from a study of 1164 unrelated german polyposis patients. 20223039

2005
dbSNP: rs863225311
rs863225311
APC
G 0.700 GeneticVariation CLINVAR APC or MUTYH mutations account for the majority of clinically well-characterized families with FAP and AFAP phenotype and patients with more than 30 adenomas. 19793053

2009
dbSNP: rs863225311
rs863225311
APC
G 0.700 GeneticVariation CLINVAR Germ-line mutations in the first 14 exons of the adenomatous polyposis coli (APC) gene. 8381580

1993
dbSNP: rs863225311
rs863225311
APC
G 0.700 GeneticVariation CLINVAR Deep intronic APC mutations explain a substantial proportion of patients with familial or early-onset adenomatous polyposis. 22431159

2012
dbSNP: rs863225311
rs863225311
APC
G 0.700 GeneticVariation CLINVAR Familial adenomatous polyposis: aberrant splicing due to missense or silent mutations in the APC gene. 15459959

2004
dbSNP: rs863225311
rs863225311
APC
G 0.700 GeneticVariation CLINVAR Racial variation in frequency and phenotypes of APC and MUTYH mutations in 6,169 individuals undergoing genetic testing. 25590978

2015
dbSNP: rs863225311
rs863225311
APC
G 0.700 GeneticVariation CLINVAR Germline APC mutation spectrum derived from 863 genomic variations identified through a 15-year medical genetics service to French patients with FAP. 20685668

2010
dbSNP: rs863225321
rs863225321
APC
A 0.700 GeneticVariation CLINVAR

dbSNP: rs863225327
rs863225327
APC
C 0.700 GeneticVariation CLINVAR

dbSNP: rs863225332
rs863225332
APC
TA 0.700 GeneticVariation CLINVAR APC germline mutations in individuals being evaluated for familial adenomatous polyposis: a review of the Mayo Clinic experience with 1591 consecutive tests. 23159591

2013
dbSNP: rs863225332
rs863225332
APC
TA 0.700 GeneticVariation CLINVAR A unique profile of adenomatous polyposis coli gene mutations in Iranian patients suffering sporadic colorectal cancer. 24518971

2014
dbSNP: rs863225332
rs863225332
APC
TA 0.700 GeneticVariation CLINVAR Familial adenomatous polyposis coli: five novel mutations in exon 15 of the adenomatous polyposis coli (APC) gene in Italian patients. Mutations in brief no. 225. Online. 10090483

1999
dbSNP: rs863225332
rs863225332
APC
TA 0.700 GeneticVariation CLINVAR The mutation spectrum of the APC gene in FAP patients from southern Italy: detection of known and four novel mutations. 14961559

2003
dbSNP: rs863225332
rs863225332
APC
TA 0.700 GeneticVariation CLINVAR Germline APC mutation spectrum derived from 863 genomic variations identified through a 15-year medical genetics service to French patients with FAP. 20685668

2010
dbSNP: rs863225332
rs863225332
APC
TA 0.700 GeneticVariation CLINVAR Mutational analysis of the APC gene in cribriform-morula variant of papillary thyroid carcinoma. 16680592

2006
dbSNP: rs863225345
rs863225345
APC
TA 0.700 GeneticVariation CLINVAR

dbSNP: rs863225364
rs863225364
APC
T 0.700 GeneticVariation CLINVAR Mutational screening of the APC gene in Chilean families with familial adenomatous polyposis: nine novel truncating mutations. 17963004

2007
dbSNP: rs863225364
rs863225364
APC
T 0.700 GeneticVariation CLINVAR Germline APC mutation spectrum derived from 863 genomic variations identified through a 15-year medical genetics service to French patients with FAP. 20685668

2010
dbSNP: rs876658858
rs876658858
APC
C 0.700 GeneticVariation CLINVAR Germline APC mutation spectrum derived from 863 genomic variations identified through a 15-year medical genetics service to French patients with FAP. 20685668

2010
dbSNP: rs876658858
rs876658858
APC
C 0.700 GeneticVariation CLINVAR Mutational screening of the APC gene in Chilean families with familial adenomatous polyposis: nine novel truncating mutations. 17963004

2007
dbSNP: rs876658941
rs876658941
APC
T 0.700 GeneticVariation CLINVAR Novel mutations of the APC gene and genetic consequences of splicing mutations in the Czech FAP families. 22987206

2013