Gene: APC ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137854567
rs137854567
APC
0.700 GeneticVariation UNIPROT Mutations of chromosome 5q21 genes in FAP and colorectal cancer patients. 1651563

1991
dbSNP: rs137854567
rs137854567
APC
0.700 GeneticVariation UNIPROT Hereditary colorectal cancer syndromes: American Society of Clinical Oncology Clinical Practice Guideline endorsement of the familial risk-colorectal cancer: European Society for Medical Oncology Clinical Practice Guidelines. 25452455

2015
dbSNP: rs137854567
rs137854567
APC
0.700 GeneticVariation UNIPROT Practice parameters for the identification and testing of patients at risk for dominantly inherited colorectal cancer--supporting documentation. 11598466

2001
dbSNP: rs137854567
rs137854567
APC
0.700 GeneticVariation UNIPROT The type of somatic mutation at APC in familial adenomatous polyposis is determined by the site of the germline mutation: a new facet to Knudson's 'two-hit' hypothesis. 10470088

1999
dbSNP: rs137854567
rs137854567
APC
0.700 GeneticVariation UNIPROT Clinical utility gene card for: familial adenomatous polyposis (FAP) and attenuated FAP (AFAP). 21368914

2011
dbSNP: rs137854567
rs137854567
APC
0.700 GeneticVariation UNIPROT Screening for germ-line mutations in familial adenomatous polyposis patients: 61 new patients and a summary of 150 unrelated patients. 1338764

1992
dbSNP: rs137854568
rs137854568
APC
T 0.700 CausalMutation CLINVAR

dbSNP: rs137854569
rs137854569
APC
G 0.700 CausalMutation CLINVAR

dbSNP: rs137854572
rs137854572
APC
T 0.700 CausalMutation CLINVAR

dbSNP: rs137854573
rs137854573
APC
T 0.700 CausalMutation CLINVAR A comparison of the phenotype and genotype in adenomatous polyposis patients with and without a family history. 15951963

2005
dbSNP: rs137854573
rs137854573
APC
T 0.700 CausalMutation CLINVAR Clinical and genetic characterization of classical forms of familial adenomatous polyposis: a Spanish population study. 20924072

2011
dbSNP: rs137854573
rs137854573
APC
T 0.700 CausalMutation CLINVAR Familial adenomatous polyposis: experience from a study of 1164 unrelated german polyposis patients. 20223039

2005
dbSNP: rs137854573
rs137854573
APC
T 0.700 CausalMutation CLINVAR De novo mutations in familial adenomatous polyposis (FAP). 12357334

2002
dbSNP: rs137854573
rs137854573
APC
T 0.700 CausalMutation CLINVAR Eight novel inactivating germ line mutations at the APC gene identified by denaturing gradient gel electrophoresis. 1324223

1992
dbSNP: rs137854573
rs137854573
APC
T 0.700 CausalMutation CLINVAR Mutation analysis of the adenomatous polyposis coli (APC) gene in Danish patients with familial adenomatous polyposis (FAP). 15108286

2004
dbSNP: rs137854575
rs137854575
APC
A 0.710 CausalMutation 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: rs137854575
rs137854575
APC
A 0.710 CausalMutation CLINVAR APC mutation and phenotypic spectrum of Singapore familial adenomatous polyposis patients. 10713886

2000
dbSNP: rs137854575
rs137854575
APC
A 0.710 CausalMutation CLINVAR Novel APC mutations in Czech and Slovak FAP families: clinical and genetic aspects. 17411426

2007
dbSNP: rs137854575
rs137854575
APC
A 0.710 CausalMutation CLINVAR Molecular analysis of the APC and MYH genes in Czech families affected by FAP or multiple adenomas: 13 novel mutations. 15024739

2004
dbSNP: rs137854575
rs137854575
APC
A 0.710 CausalMutation CLINVAR Identification of APC gene mutations in colorectal cancer using universal microarray-based combinatorial sequencing-by-hybridization. 15300853

2004
dbSNP: rs137854575
rs137854575
APC
G 0.710 CausalMutation CLINVAR

dbSNP: rs137854575
rs137854575
APC
A 0.710 CausalMutation CLINVAR Germline mutations of the APC gene in Korean familial adenomatous polyposis patients. 10083733

1999
dbSNP: rs137854575
rs137854575
APC
A 0.710 CausalMutation CLINVAR A comparison of the phenotype and genotype in adenomatous polyposis patients with and without a family history. 15951963

2005
dbSNP: rs137854575
rs137854575
APC
A 0.710 CausalMutation CLINVAR Pathogenic mutations and rare variants of the APC gene identified in 75 Belgian patients with familial adenomatous polyposis by fluorescent enzymatic mutation detection (EMD). 12173026

2002
dbSNP: rs137854575
rs137854575
APC
A 0.710 CausalMutation CLINVAR Mutational analysis of patients with adenomatous polyposis: identical inactivating mutations in unrelated individuals. 8381579

1993