Gene: APC ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1064794163
rs1064794163
APC
G 0.700 GeneticVariation CLINVAR The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies. 28349240

2017
dbSNP: rs587781330
rs587781330
APC
A 0.700 CausalMutation CLINVAR Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 26681312

2016
dbSNP: rs587781392
rs587781392
APC
T 0.700 CausalMutation CLINVAR Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 26681312

2016
dbSNP: rs145945630
rs145945630
APC
T 0.700 CausalMutation CLINVAR Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome. 25980754

2015
dbSNP: rs1561569606
rs1561569606
APC
GGT 0.700 GeneticVariation CLINVAR High-resolution melting (HRM) re-analysis of a polyposis patients cohort reveals previously undetected heterozygous and mosaic APC gene mutations. 25604157

2015
dbSNP: rs587781392
rs587781392
APC
T 0.700 CausalMutation CLINVAR Mitochondrial variants in MT-CO2 and D-loop instability are involved in MUTYH-associated polyposis. 26138249

2015
dbSNP: rs587781392
rs587781392
APC
T 0.700 CausalMutation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159

2015
dbSNP: rs777848503
rs777848503
APC
G 0.700 GeneticVariation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159

2015
dbSNP: rs777848503
rs777848503
APC
G 0.700 GeneticVariation CLINVAR Diverse modes of genomic alteration in hepatocellular carcinoma. 25159915

2014
dbSNP: rs587779352
rs587779352
APC
T 0.700 CausalMutation 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: rs587781330
rs587781330
APC
A 0.700 CausalMutation 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: rs587782557
rs587782557
APC
C 0.700 CausalMutation 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: rs587783033
rs587783033
APC
G 0.700 CausalMutation 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: rs587783035
rs587783035
APC
G 0.700 CausalMutation 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: rs587783031
rs587783031
APC
G 0.700 CausalMutation CLINVAR Unexplained polyposis: a challenge for geneticists, pathologists and gastroenterologists. 21476993

2012
dbSNP: rs137854573
rs137854573
APC
T 0.700 CausalMutation CLINVAR Clinical and genetic characterization of classical forms of familial adenomatous polyposis: a Spanish population study. 20924072

2011
dbSNP: rs398123118
rs398123118
APC
A 0.700 CausalMutation CLINVAR 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: rs587782557
rs587782557
APC
C 0.700 CausalMutation CLINVAR Activating mutation in MET oncogene in familial colorectal cancer. 21970370

2011
dbSNP: rs587783031
rs587783031
APC
G 0.700 CausalMutation CLINVAR A survey of APC mutations in Quebec. 21779980

2011
dbSNP: rs1561569606
rs1561569606
APC
GGT 0.700 GeneticVariation CLINVAR APC mutations are associated with increased bone mineral density in patients with familial adenomatous polyposis. 20564245

2010
dbSNP: rs587781330
rs587781330
APC
A 0.700 CausalMutation CLINVAR Allele-specific expression of APC in adenomatous polyposis families. 20434453

2010
dbSNP: rs587781392
rs587781392
APC
T 0.700 CausalMutation 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: rs587783035
rs587783035
APC
G 0.700 CausalMutation CLINVAR APC mutations are associated with increased bone mineral density in patients with familial adenomatous polyposis. 20564245

2010
dbSNP: rs774847203
rs774847203
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: rs777848503
rs777848503
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