Gene: APC ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554069481
rs1554069481
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: rs1554069828
rs1554069828
APC
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1554071494
rs1554071494
APC
G 0.700 GeneticVariation CLINVAR LOVD v.2.0: the next generation in gene variant databases. 21520333

2011
dbSNP: rs1554071494
rs1554071494
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: rs1554071617
rs1554071617
APC
T 0.700 GeneticVariation CLINVAR Familial adenomatous polyposis: aberrant splicing due to missense or silent mutations in the APC gene. 15459959

2004
dbSNP: rs1554071617
rs1554071617
APC
T 0.700 GeneticVariation CLINVAR Analysis of rare APC variants at the mRNA level: six pathogenic mutations and literature review. 19196998

2009
dbSNP: rs1554079938
rs1554079938
APC
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1554081749
rs1554081749
APC
CT 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: rs1554081752
rs1554081752
APC
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1554081934
rs1554081934
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: rs1554081934
rs1554081934
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: rs1554081934
rs1554081934
APC
A 0.700 GeneticVariation CLINVAR UMD (Universal mutation database): a generic software to build and analyze locus-specific databases. 10612827

2000
dbSNP: rs1554082135
rs1554082135
APC
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1554086015
rs1554086015
APC
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1554086854
rs1554086854
APC
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1554086862
rs1554086862
APC
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1561464190
rs1561464190
APC
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1561477658
rs1561477658
APC
GTCATTGCTTCTTGCTGATCTTGACAAAGAAGAAAAGGAAAAAGACTGGTATTACGCTCAACTTCAGAATCTCACTAAAAGAATAGATAGTCTTCCTTTAACTGAAAATGTAAGTAACTTGGCAGTACAACTTATTTGAAACTTTAATAACTTGATATTTTAAAGTACCTAGGTAATC 0.700 GeneticVariation CLINVAR A novel exon duplication event leading to a truncating germ-line mutation of the APC gene in a familial adenomatous polyposis family. 16736293

2006
dbSNP: rs1561545780
rs1561545780
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: rs1561545780
rs1561545780
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: rs1561574581
rs1561574581
APC
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1561576666
rs1561576666
APC
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1561606344
rs1561606344
APC
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1801155
rs1801155
APC
A 0.700 GeneticVariation CLINVAR The APC variants I1307K and E1317Q are associated with colorectal tumors, but not always with a family history. 9724771

1998
dbSNP: rs1801155
rs1801155
APC
A 0.700 GeneticVariation CLINVAR How the I1307K adenomatous polyposis coli gene variant contributes in the assessment of risk of colorectal cancer, but not stomach cancer, in a Turkish population. 17854661

2007