Gene: APC ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1801155
rs1801155
APC
A 0.700 GeneticVariation CLINVAR Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes. 22703879

2012
dbSNP: rs1801155
rs1801155
APC
A 0.700 GeneticVariation CLINVAR Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing. 24728327

2014
dbSNP: rs1801155
rs1801155
APC
A 0.700 GeneticVariation CLINVAR Colonic adenomas do not cosegregate with the I1307K APC missense mutation in an Israeli non-Ashkenazi family. 15712637

2005
dbSNP: rs1801155
rs1801155
APC
A 0.700 GeneticVariation CLINVAR The APC p.I1307K polymorphism is a significant risk factor for CRC in average risk Ashkenazi Jews. 23896379

2013
dbSNP: rs1801155
rs1801155
APC
A 0.700 GeneticVariation CLINVAR Familial colorectal cancer in Ashkenazim due to a hypermutable tract in APC. 9288102

1997
dbSNP: rs1801155
rs1801155
APC
A 0.700 GeneticVariation CLINVAR Germline APC variants in patients with multiple colorectal adenomas, with evidence for the particular importance of E1317Q. 11001924

2000
dbSNP: rs1801155
rs1801155
APC
A 0.700 GeneticVariation CLINVAR APC polymorphisms and the risk of colorectal neoplasia: a HuGE review and meta-analysis. 23576677

2013
dbSNP: rs1801155
rs1801155
APC
A 0.700 GeneticVariation CLINVAR The UMD-APC database, a model of nation-wide knowledge base: update with data from 3,581 variations. 24599579

2014
dbSNP: rs1801155
rs1801155
APC
A 0.700 GeneticVariation CLINVAR ACMG technical standards and guidelines for genetic testing for inherited colorectal cancer (Lynch syndrome, familial adenomatous polyposis, and MYH-associated polyposis). 24310308

2014
dbSNP: rs1801155
rs1801155
APC
A 0.700 GeneticVariation CLINVAR Colorectal tumors from APC*I1307K carriers principally harbor somatic APC mutations outside the A8 tract. 24416237

2014
dbSNP: rs1801155
rs1801155
APC
A 0.700 GeneticVariation CLINVAR No evidence of the APC D1822V missense variant's pathogenicity in Tunisian patients with sporadic colorectal cancer. 18343606

2009
dbSNP: rs397515732
rs397515732
APC
TA 0.700 GeneticVariation CLINVAR Characterization of 19 novel and six recurring APC mutations in Italian adenomatous polyposis patients, using two different mutation detection techniques. 9101302

1997
dbSNP: rs587779798
rs587779798
APC
C 0.700 GeneticVariation CLINVAR

dbSNP: rs587781809
rs587781809
APC
A 0.700 GeneticVariation CLINVAR Mutational screening of the APC gene in Chilean families with familial adenomatous polyposis: nine novel truncating mutations. 17963004

2007
dbSNP: rs587781809
rs587781809
APC
A 0.700 GeneticVariation CLINVAR Germline APC mutation spectrum derived from 863 genomic variations identified through a 15-year medical genetics service to French patients with FAP. 20685668

2010
dbSNP: rs587781809
rs587781809
APC
A 0.700 GeneticVariation CLINVAR APC germline mutations in individuals being evaluated for familial adenomatous polyposis: a review of the Mayo Clinic experience with 1591 consecutive tests. 23159591

2013
dbSNP: rs750508765
rs750508765
APC
T 0.700 GeneticVariation CLINVAR Mutational screening of the APC gene in Chilean families with familial adenomatous polyposis: nine novel truncating mutations. 17963004

2007
dbSNP: rs750508765
rs750508765
APC
T 0.700 GeneticVariation CLINVAR Germline APC mutation spectrum derived from 863 genomic variations identified through a 15-year medical genetics service to French patients with FAP. 20685668

2010
dbSNP: rs752152148
rs752152148
APC
G 0.700 GeneticVariation CLINVAR Familial adenomatous polyposis: experience from a study of 1164 unrelated german polyposis patients. 20223039

2005
dbSNP: rs752152148
rs752152148
APC
G 0.700 GeneticVariation CLINVAR Germline APC mutation spectrum derived from 863 genomic variations identified through a 15-year medical genetics service to French patients with FAP. 20685668

2010
dbSNP: rs752152148
rs752152148
APC
G 0.700 GeneticVariation CLINVAR Mutational screening of the APC gene in Chilean families with familial adenomatous polyposis: nine novel truncating mutations. 17963004

2007
dbSNP: rs761458613
rs761458613
APC
A 0.700 GeneticVariation CLINVAR

dbSNP: rs761458613
rs761458613
APC
T 0.700 GeneticVariation CLINVAR

dbSNP: rs786201291
rs786201291
APC
G 0.700 GeneticVariation CLINVAR Colonic interposition in a woman with attenuated familial adenomatosis polyposis: does the location of the colon affect polyp formation? 18629394

2008
dbSNP: rs786201291
rs786201291
APC
G 0.700 GeneticVariation CLINVAR Mutational screening of the APC gene in Chilean families with familial adenomatous polyposis: nine novel truncating mutations. 17963004

2007