Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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 spectrum of Norwegian familial adenomatous polyposis families: high ratio of novel mutations. 19444466

2009
dbSNP: rs137854575
rs137854575
APC
A 0.710 CausalMutation CLINVAR APC gene mutations causing familial adenomatous polyposis in Polish patients. 19029688

2008
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 Cyclooxygenase-2 and platelet-derived growth factor receptors as potential targets in treating aggressive fibromatosis. 17785554

2007
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: 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
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 APC mutation and phenotypic spectrum of Singapore familial adenomatous polyposis patients. 10713886

2000
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 Mutational analysis of patients with adenomatous polyposis: identical inactivating mutations in unrelated individuals. 8381579

1993
dbSNP: rs137854575
rs137854575
APC
A 0.710 CausalMutation CLINVAR Eight novel inactivating germ line mutations at the APC gene identified by denaturing gradient gel electrophoresis. 1324223

1992
dbSNP: rs137854575
rs137854575
APC
G 0.710 CausalMutation CLINVAR