Gene: APC ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397515734
rs397515734
APC
T 0.710 CausalMutation CLINVAR Mutational screening of the APC gene in Chilean families with familial adenomatous polyposis: nine novel truncating mutations. 17963004

2007
dbSNP: rs121913224
rs121913224
APC
T 0.710 CausalMutation CLINVAR Singapore familial adenomatous polyposis (FAP) patients with classical adenomatous polyposis but undetectable APC mutations have accelerated cancer progression. 17026565

2006
dbSNP: rs121913224
rs121913224
APC
T 0.710 CausalMutation CLINVAR Familial adenomatous polyposis: experience from a study of 1164 unrelated german polyposis patients. 20223039

2005
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
0.710 GeneticVariation BEFREE We identified a mutation in the APC gene that results in a truncated protein (Y935X) in the FAP proband, and subsequently in 12 FAP-affected members. 16292097

2005
dbSNP: rs137854575
rs137854575
APC
A 0.710 CausalMutation CLINVAR We identified a mutation in the APC gene that results in a truncated protein (Y935X) in the FAP proband, and subsequently in 12 FAP-affected members. 16292097

2005
dbSNP: rs137854575
rs137854575
APC
A 0.710 CausalMutation CLINVAR Four of the included FAP patients had papillary thyroid cancers; all were female and had germline APC mutations (c.1863_1865delTTAincCT, c.2805C>A, c.3183_3187delACAAA and c.3927_3931delAAAGA). 16088911

2005
dbSNP: rs137854575
rs137854575
APC
A 0.710 CausalMutation CLINVAR Mutations of APC and MYH in unrelated Italian patients with adenomatous polyposis coli. 16134147

2005
dbSNP: rs397515734
rs397515734
APC
T 0.710 CausalMutation CLINVAR Mutations of APC and MYH in unrelated Italian patients with adenomatous polyposis coli. 16134147

2005
dbSNP: rs121913224
rs121913224
APC
T 0.710 CausalMutation CLINVAR Novel germline mutations in the adenomatous polyposis coli gene in Polish families with familial adenomatous polyposis. 14729851

2004
dbSNP: rs121913224
rs121913224
APC
T 0.710 CausalMutation CLINVAR Frequency and parental origin of de novo APC mutations in familial adenomatous polyposis. 14523376

2004
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: rs397515734
rs397515734
APC
T 0.710 CausalMutation CLINVAR Mutation analysis of the adenomatous polyposis coli (APC) gene in Danish patients with familial adenomatous polyposis (FAP). 15108286

2004
dbSNP: rs121913224
rs121913224
APC
T 0.710 CausalMutation CLINVAR Preliminary results of the molecular diagnosis of familial adenomatous polyposis in Cuban families. 12172928

2002
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: rs397515734
rs397515734
APC
T 0.710 CausalMutation CLINVAR Molecular analysis of the APC gene in 71 Israeli families: 17 novel mutations. 12007223

2002
dbSNP: rs397515734
rs397515734
APC
T 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: rs121913224
rs121913224
APC
T 0.710 CausalMutation CLINVAR Can APC mutation analysis contribute to therapeutic decisions in familial adenomatous polyposis? Experience from 680 FAP families. 11247896

2001
dbSNP: rs121913224
rs121913224
APC
T 0.710 CausalMutation CLINVAR The relationship between frequencies of extracolonic manifestations and the position of APC germline mutation in patients with familial adenomatous polyposis. 10768871

2000
dbSNP: rs137854575
rs137854575
APC
A 0.710 CausalMutation CLINVAR APC mutation and phenotypic spectrum of Singapore familial adenomatous polyposis patients. 10713886

2000
dbSNP: rs121913224
rs121913224
APC
T 0.710 CausalMutation CLINVAR Dominant negative effect of the APC1309 mutation: a possible explanation for genotype-phenotype correlations in familial adenomatous polyposis. 10213492

1999
dbSNP: rs137854575
rs137854575
APC
A 0.710 CausalMutation CLINVAR Germline mutations of the APC gene in Korean familial adenomatous polyposis patients. 10083733

1999
dbSNP: rs397515734
rs397515734
APC
T 0.710 CausalMutation CLINVAR Rapid RT-PCR-based protein truncation test in the screening for 5' located mutations of the APC gene. 9664575

1998
dbSNP: rs397515734
rs397515734
APC
T 0.710 CausalMutation CLINVAR Alternative genetic pathways in colorectal carcinogenesis. 9342373

1997