rs459552
| Orientation | minus |
| Stabilized | minus |
| Make rs459552(A;A) |
| Make rs459552(A;T) |
| Make rs459552(T;T) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 5 |
| Position | 112841059 |
| Gene | APC |
| is a | snp |
| is | mentioned by |
| dbSNP | rs459552 |
| dbSNP (classic) | rs459552 |
| ClinGen | rs459552 |
| ebi | rs459552 |
| HLI | rs459552 |
| Exac | rs459552 |
| Gnomad | rs459552 |
| Varsome | rs459552 |
| LitVar | rs459552 |
| Map | rs459552 |
| PheGenI | rs459552 |
| Biobank | rs459552 |
| 1000 genomes | rs459552 |
| hgdp | rs459552 |
| ensembl | rs459552 |
| geneview | rs459552 |
| scholar | rs459552 |
| rs459552 | |
| pharmgkb | rs459552 |
| gwascentral | rs459552 |
| openSNP | rs459552 |
| 23andMe | rs459552 |
| SNPshot | rs459552 |
| SNPdbe | rs459552 |
| MSV3d | rs459552 |
| GWAS Ctlg | rs459552 |
| GMAF | 0.1382 |
| Max Magnitude | 0 |
| ? | (A;A) (A;T) (T;T) | 28 |
|---|---|---|
|
| ||
[PMID 20149637] Common variants in human CRC genes as low-risk alleles
| 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 14724163
] Analysis of candidate modifier loci for the severity of colonic familial adenomatous polyposis, with evidence for the importance of the N-acetyl transferases.
[PMID 16569251] 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 18708403] Association of genetic variation in genes implicated in the beta-catenin destruction complex with risk of breast cancer.
[PMID 18992263] Colon tumor mutations and epigenetic changes associated with genetic polymorphism: insight into disease pathways.
[PMID 20333795] 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 24078348] An Analysis of Polymorphisms Within the Wnt Signaling Pathway in Relation to Ovarian Cancer Risk in a Polish Population
