Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs371113837
rs371113837
APC
0.700 GeneticVariation UNIPROT Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 27854360

2017
dbSNP: rs371113837
rs371113837
APC
0.700 GeneticVariation UNIPROT Reduced expression of APC-1B but not APC-1A by the deletion of promoter 1B is responsible for familial adenomatous polyposis. 27217144

2016
dbSNP: rs371113837
rs371113837
APC
0.700 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965

2015
dbSNP: rs371113837
rs371113837
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: rs371113837
rs371113837
APC
0.700 GeneticVariation UNIPROT ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes. 25645574

2015
dbSNP: rs371113837
rs371113837
APC
0.700 GeneticVariation UNIPROT ACMG technical standards and guidelines for genetic testing for inherited colorectal cancer (Lynch syndrome, familial adenomatous polyposis, and MYH-associated polyposis). 24310308

2014
dbSNP: rs371113837
rs371113837
APC
0.700 GeneticVariation UNIPROT ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249

2013
dbSNP: rs371113837
rs371113837
APC
0.700 GeneticVariation UNIPROT Clinical utility gene card for: familial adenomatous polyposis (FAP) and attenuated FAP (AFAP). 21368914

2011
dbSNP: rs371113837
rs371113837
APC
0.700 GeneticVariation UNIPROT Inactivation of promoter 1B of APC causes partial gene silencing: evidence for a significant role of the promoter in regulation and causative of familial adenomatous polyposis. 21643010

2011
dbSNP: rs371113837
rs371113837
APC
0.700 GeneticVariation UNIPROT Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. 15604628

2004
dbSNP: rs371113837
rs371113837
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: rs371113837
rs371113837
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: rs371113837
rs371113837
APC
0.700 GeneticVariation UNIPROT Molecular analysis of the APC gene in 105 Dutch kindreds with familial adenomatous polyposis: 67 germline mutations identified by DGGE, PTT, and southern analysis. 8990002

1997
dbSNP: rs371113837
rs371113837
APC
0.700 GeneticVariation UNIPROT The molecular basis of Turcot's syndrome. 7661930

1995
dbSNP: rs371113837
rs371113837
APC
0.700 GeneticVariation UNIPROT Mutational analysis of the first 14 exons of the adenomatous polyposis coli (APC) gene. 7833149

1994
dbSNP: rs371113837
rs371113837
APC
0.700 GeneticVariation UNIPROT Four novel mutations of the APC (adenomatous polyposis coli) gene in FAP patients. 7833931

1994
dbSNP: rs371113837
rs371113837
APC
0.700 GeneticVariation UNIPROT Somatic mutation of the APC gene in gastric cancer: frequent mutations in very well differentiated adenocarcinoma and signet-ring cell carcinoma. 1338691

1992
dbSNP: rs371113837
rs371113837
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: rs371113837
rs371113837
APC
0.700 GeneticVariation UNIPROT Somatic mutations of the APC gene in colorectal tumors: mutation cluster region in the APC gene. 1338904

1992
dbSNP: rs371113837
rs371113837
APC
0.700 GeneticVariation UNIPROT Mutations of chromosome 5q21 genes in FAP and colorectal cancer patients. 1651563

1991