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rs459552

From SNPedia

Orientationminus
Stabilizedplus
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
ebirs459552
HLIrs459552
Exacrs459552
Varsomers459552
Maprs459552
PheGenIrs459552
hapmaprs459552
1000 genomesrs459552
hgdprs459552
ensemblrs459552
gopubmedrs459552
geneviewrs459552
scholarrs459552
googlers459552
pharmgkbrs459552
gwascentralrs459552
openSNPrs459552
23andMers459552
23andMe allrs459552
SNP Nexus

SNPshotrs459552
SNPdbers459552
MSV3drs459552
GWAS Ctlgrs459552
GMAF0.1382
Max Magnitude
? (A;A) (A;T) (T;T) 28
Venter snp
Source plos
Gene APC
allele A
frequency 0.775
sift
HuRef 1103654192649
Disease Association Defects in APC are a cause of Turcot syndrome (MIM:276300). Turcot syndrome is an autosomal dominant disorder characterized by malignant tumors of the brain associated with multiple colorectal adenomas. Skin features include sebaceous cysts, hyperpigmented and cafe au lait spots.



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

OMIM114500
Desc
Variant
Relatedalso


ClinVar
Risk rs459552(C,T;C,T)
Alt rs459552(C,T;C,T)
Reference rs459552(A;A)
Significance Other
Disease Familial adenomatous polyposis 1 not provided not specified Familial colorectal cancer Hereditary cancer-predisposing syndrome Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene APC
CLNDBN Familial adenomatous polyposis 1 not provided not specified Familial colorectal cancer Hereditary cancer-predisposing syndrome Tumor susceptibility linked to germline BAP1 mutations
Reversed 1
HGVS NC_000005.9:g.112176756T>A; NC_000005.9:g.112176756T>G
CLNSRC Ambry Genetics ClinVar Emory University GeneReviews
CLNACC RCV000020089.2, RCV000034393.1, RCV000035078.8, RCV000074239.1, RCV000132160.2, RCV000216852.1,



[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.


GET Evidence
APC-V1822D
aa_change Val1822Asp
aa_change_short V1822D
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.825986
summary



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