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rs459552

From SNPedia

Orientationminus
Stabilizedminus
Make rs459552(A;A)
Make rs459552(A;T)
Make rs459552(T;T)
ReferenceGRCh38 38.1/142
Chromosome5
Position112841059
GeneAPC
is asnp
is mentioned by
dbSNPrs459552
dbSNP (classic)rs459552
ClinGenrs459552
ebirs459552
HLIrs459552
Exacrs459552
Gnomadrs459552
Varsomers459552
LitVarrs459552
Maprs459552
PheGenIrs459552
Biobankrs459552
1000 genomesrs459552
hgdprs459552
ensemblrs459552
geneviewrs459552
scholarrs459552
googlers459552
pharmgkbrs459552
gwascentralrs459552
openSNPrs459552
23andMers459552
SNPshotrs459552
SNPdbers459552
MSV3drs459552
GWAS Ctlgrs459552
GMAF0.1382
Max Magnitude0
? (A;A) (A;T) (T;T) 28



[PMID 20149637] Common variants in human CRC genes as low-risk alleles

OMIM114500
Desc
Variant
Relatedalso


ClinVar
Risk rs459552(C;C) rs459552(T;T)
Alt rs459552(C;C) rs459552(T;T)
Reference rs459552(A;A)
Significance Other
Disease Familial adenomatous polyposis 1 not provided not specified Familial colorectal cancer Hereditary cancer-predisposing syndrome APC-Associated Polyposis Disorders
Variation info
Gene APC
CLNDBN Familial adenomatous polyposis 1 not provided not specified Familial colorectal cancer Hereditary cancer-predisposing syndrome APC-Associated Polyposis Disorders
Reversed 1
HGVS NC_000005.9:g.112176756T>A; NC_000005.9:g.112176756T>G
CLNSRC UniProtKB (protein)
CLNACC RCV000020089.2, RCV000034393.1, RCV000035078.10, RCV000074239.1, RCV000132160.2, RCV000358689.1, RCV000216852.1, RCV000471267.1,



[PMID 14724163OA-icon.png] Analysis of candidate modifier loci for the severity of colonic familial adenomatous polyposis, with evidence for the importance of the N-acetyl transferases.


[PMID 16569251OA-icon.png] Single nucleotide polymorphisms of the APC gene and colorectal cancer risk: a case-control study in Taiwan.


[PMID 17221838] Association of adenomatous polyposis coli (APC) gene polymorphisms with autism spectrum disorder (ASD).


[PMID 18375958] Modification of the associations between lifestyle, dietary factors and colorectal cancer risk by APC variants.


[PMID 18708403OA-icon.png] Association of genetic variation in genes implicated in the beta-catenin destruction complex with risk of breast cancer.


[PMID 18992263OA-icon.png] Colon tumor mutations and epigenetic changes associated with genetic polymorphism: insight into disease pathways.


[PMID 20333795OA-icon.png] APC gene mutations in Chinese familial adenomatous polyposis patients.


[PMID 11221825] A molecular variant of the APC gene at codon 1822: its association with diet, lifestyle, and risk of colon cancer.


[PMID 17556698] The D1822V APC polymorphism interacts with fat, calcium, and fiber intakes in modulating the risk of colorectal cancer in Portuguese persons.



[PMID 24078348OA-icon.png] An Analysis of Polymorphisms Within the Wnt Signaling Pathway in Relation to Ovarian Cancer Risk in a Polish Population