Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057517544
rs1057517544
APC
A 0.700 GeneticVariation CLINVAR Familial adenomatous polyposis: experience from a study of 1164 unrelated german polyposis patients. 20223039

2005

dbSNP: rs1057517553
rs1057517553
APC
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1057517559
rs1057517559
APC
C 0.700 GeneticVariation CLINVAR Familial adenomatous polyposis: experience from a study of 1164 unrelated german polyposis patients. 20223039

2005

dbSNP: rs1057517559
rs1057517559
APC
C 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: rs1057517559
rs1057517559
APC
C 0.700 GeneticVariation CLINVAR Familial adenomatous polyposis: aberrant splicing due to missense or silent mutations in the APC gene. 15459959

2004

dbSNP: rs1057517559
rs1057517559
APC
C 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: rs1057517561
rs1057517561
APC
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1057517568
rs1057517568
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: rs1060503261
rs1060503261
APC
A 0.700 GeneticVariation CLINVAR Clinical characterization and the mutation spectrum in Swedish adenomatous polyposis families. 18433509

2008

dbSNP: rs1060503261
rs1060503261
APC
A 0.700 GeneticVariation CLINVAR Familial adenomatous polyposis: experience from a study of 1164 unrelated german polyposis patients. 20223039

2005

dbSNP: rs1060503261
rs1060503261
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: rs1060503318
rs1060503318
APC
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1060503323
rs1060503323
APC
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1064792977
rs1064792977
APC
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1064793716
rs1064793716
APC
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1114167580
rs1114167580
APC
G 0.700 GeneticVariation CLINVAR Contribution of APC and MUTYH mutations to familial adenomatous polyposis susceptibility in Hungary. 26446593

2016

dbSNP: rs1114167580
rs1114167580
APC
G 0.700 GeneticVariation CLINVAR Familial adenomatous polyposis: aberrant splicing due to missense or silent mutations in the APC gene. 15459959

2004

dbSNP: rs1114167580
rs1114167580
APC
G 0.700 GeneticVariation CLINVAR Familial adenomatous polyposis: experience from a study of 1164 unrelated german polyposis patients. 20223039

2005

dbSNP: rs1114167580
rs1114167580
APC
G 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: rs1114167580
rs1114167580
APC
G 0.700 GeneticVariation CLINVAR APC mutation spectrum of Norwegian familial adenomatous polyposis families: high ratio of novel mutations. 19444466

2009

dbSNP: rs121913224
rs121913224
APC
T 0.700 GeneticVariation CLINVAR

dbSNP: rs145945630
rs145945630
APC
T 0.700 GeneticVariation CLINVAR Clinical characterization and the mutation spectrum in Swedish adenomatous polyposis families. 18433509

2008

dbSNP: rs145945630
rs145945630
APC
T 0.700 GeneticVariation CLINVAR Attenuated APC alleles produce functional protein from internal translation initiation. 12034871

2002

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

2015

dbSNP: rs1554069481
rs1554069481
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