Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397515734
rs397515734
APC
0.710 GeneticVariation BEFREE In them, 2 rare variants (c.694C>T in APC and c.1690A>G in MSH2) might be the putative causal mutations for familial adenomatous polyposis (FAP) since the rarity of the mutated allele in normal controls. c.694C>T was detected in only affected members and generated a premature stop codon in APC. 24735542

2014
dbSNP: rs397515734
rs397515734
APC
T 0.710 CausalMutation CLINVAR Clinical and genetic characterization of classical forms of familial adenomatous polyposis: a Spanish population study. 20924072

2011
dbSNP: rs397515734
rs397515734
APC
T 0.710 CausalMutation CLINVAR Mutation analysis of the APC gene in unrelated Korean patients with FAP: four novel mutations with unusual phenotype. 21110124

2011
dbSNP: rs397515734
rs397515734
APC
T 0.710 CausalMutation CLINVAR Mutational spectrum of APC and genotype-phenotype correlations in Greek FAP patients. 20649969

2010
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: rs397515734
rs397515734
APC
T 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 Mutation analysis of the adenomatous polyposis coli (APC) gene in Danish patients with familial adenomatous polyposis (FAP). 15108286

2004
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: 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
dbSNP: rs397515734
rs397515734
APC
T 0.710 CausalMutation CLINVAR Germ-line mutations of the APC gene in 53 familial adenomatous polyposis patients. 1316610

1992