Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1561602876
rs1561602876
APC
TA 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: rs1561602876
rs1561602876
APC
TA 0.700 CausalMutation CLINVAR Variable phenotype of familial adenomatous polyposis in pedigrees with 3' mutation in the APC gene. 9824584

1998

dbSNP: rs387906233
rs387906233
APC
TA 0.700 CausalMutation CLINVAR

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: rs863225332
rs863225332
APC
TA 0.700 CausalMutation CLINVAR Frequency of common and novel inactivating APC mutations in 202 families with familial adenomatous polyposis. 8162022

1994

dbSNP: rs863225332
rs863225332
APC
TA 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: rs863225332
rs863225332
APC
TA 0.700 GeneticVariation CLINVAR A unique profile of adenomatous polyposis coli gene mutations in Iranian patients suffering sporadic colorectal cancer. 24518971

2014

dbSNP: rs863225332
rs863225332
APC
TA 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: rs863225332
rs863225332
APC
TA 0.700 GeneticVariation CLINVAR Familial adenomatous polyposis coli: five novel mutations in exon 15 of the adenomatous polyposis coli (APC) gene in Italian patients. Mutations in brief no. 225. Online. 10090483

1999

dbSNP: rs863225332
rs863225332
APC
TA 0.700 CausalMutation CLINVAR Germ-line mutations of the APC gene in 53 familial adenomatous polyposis patients. 1316610

1992

dbSNP: rs863225332
rs863225332
APC
TA 0.700 GeneticVariation CLINVAR The mutation spectrum of the APC gene in FAP patients from southern Italy: detection of known and four novel mutations. 14961559

2003

dbSNP: rs863225332
rs863225332
APC
TA 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: rs863225332
rs863225332
APC
TA 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: rs863225332
rs863225332
APC
TA 0.700 CausalMutation CLINVAR Familial adenomatous polyposis coli: five novel mutations in exon 15 of the adenomatous polyposis coli (APC) gene in Italian patients. Mutations in brief no. 225. Online. 10090483

1999

dbSNP: rs863225332
rs863225332
APC
TA 0.700 GeneticVariation CLINVAR Mutational analysis of the APC gene in cribriform-morula variant of papillary thyroid carcinoma. 16680592

2006

dbSNP: rs863225332
rs863225332
APC
TA 0.700 CausalMutation CLINVAR Novel mutations and phenotypic associations identified through APC, MUTYH, NTHL1, POLD1, POLE gene analysis in Indian Familial Adenomatous Polyposis cohort. 28533537

2017

dbSNP: rs863225332
rs863225332
APC
TA 0.700 CausalMutation CLINVAR Founder mutation in familial adenomatous polyposis (FAP) in the Balearic Islands. 15771908

2005

dbSNP: rs863225345
rs863225345
APC
TA 0.700 GeneticVariation CLINVAR

dbSNP: rs863225345
rs863225345
APC
TA 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: rs863225345
rs863225345
APC
TA 0.700 CausalMutation CLINVAR Mutation analysis of the adenomatous polyposis coli (APC) gene in Danish patients with familial adenomatous polyposis (FAP). 15108286

2004

dbSNP: rs863225345
rs863225345
APC
TA 0.700 CausalMutation CLINVAR Mutational screening of the APC gene in Chilean families with familial adenomatous polyposis: nine novel truncating mutations. 17963004

2007

dbSNP: rs863225345
rs863225345
APC
TA 0.700 CausalMutation CLINVAR Can APC mutation analysis contribute to therapeutic decisions in familial adenomatous polyposis? Experience from 680 FAP families. 11247896

2001

dbSNP: rs863225345
rs863225345
APC
TA 0.700 CausalMutation CLINVAR Detection of five novel germline mutations of the APC gene in Irish familial adenomatous polyposis families. 9452101

1998

dbSNP: rs863225345
rs863225345
APC
TA 0.700 CausalMutation CLINVAR Screening for mutations of the APC gene in 66 Italian familial adenomatous polyposis patients: evidence for phenotypic differences in cases with and without identified mutation. 10094547

1999

dbSNP: rs878853451
rs878853451
APC
TA 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