rs4464148
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 2 | 1.35x increased risk for colorectal cancer |
| (C;T) | 1.5 | 1.10x increased risk for colorectal cancer |
| (T;T) | 1 | Normal risk for colorectal cancer |
| Reference | GRCh38 38.1/141 |
| Chromosome | 18 |
| Position | 48932662 |
| Gene | SMAD7 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs4464148 |
| dbSNP (classic) | rs4464148 |
| ClinGen | rs4464148 |
| ebi | rs4464148 |
| HLI | rs4464148 |
| Exac | rs4464148 |
| Gnomad | rs4464148 |
| Varsome | rs4464148 |
| LitVar | rs4464148 |
| Map | rs4464148 |
| PheGenI | rs4464148 |
| Biobank | rs4464148 |
| 1000 genomes | rs4464148 |
| hgdp | rs4464148 |
| ensembl | rs4464148 |
| geneview | rs4464148 |
| scholar | rs4464148 |
| rs4464148 | |
| pharmgkb | rs4464148 |
| gwascentral | rs4464148 |
| openSNP | rs4464148 |
| 23andMe | rs4464148 |
| SNPshot | rs4464148 |
| SNPdbe | rs4464148 |
| MSV3d | rs4464148 |
| GWAS Ctlg | rs4464148 |
| GMAF | 0.2121 |
| Max Magnitude | 2 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
rs4464148 is one of 3 SNPs in the SMAD7 gene associated with risk for colorectal cancer, based on a large study (7,400+ cases) conducted in the UK. The odds ratios show an increased risk for the minor rs4464148(C) allele; the OR for (C;C) homozygotes is 1.35 (CI: 1.2-1.51), and for (C;T) heterozygotes 1.10 (CI: 1.09-1.21), overall p=7x10-8.[PMID 17934461]
[PMID 20124488
] Increased Risk of Colon Cancer Associated with a Genetic Polymorphism of SMAD7
[PMID 21075068] SMAD7 and MGMT genotype variants and cancer incidence in the European Prospective Investigation into Cancer and Nutrition (EPIC)-Norfolk Study
[PMID 21097774] Colorectal cancer susceptibility loci on chromosome 8q23.3 and 11q23.1 as modifiers for disease expression in lynch syndrome
[PMID 21221812] A risk-associated single nucleotide polymorphism of SMAD7 is common to colorectal, gastric, and lung cancers in a Han Chinese population
[PMID 21910156] Common colorectal cancer risk variants in SMAD7 are associated with survival among prediagnostic nonsteroidal anti-inflammatory drug users: a population-based study of postmenopausal women
[PMID 22505654] GWAS-identified colorectal cancer susceptibility loci associated with clinical outcomes
[PMID 19155440] Meta association of colorectal cancer confirms risk alleles at 8q24 and 18q21.
[PMID 19357349] Association of common genetic variants in SMAD7 and risk of colon cancer.
[PMID 19395656] The colorectal cancer risk at 18q21 is caused by a novel variant altering SMAD7 expression.
[PMID 22554650] Wound healing genes and susceptibility to cutaneous leishmaniasis in Brazil
[PMID 24448986] Genome-wide association study identifies a new SMAD7 risk variant associated with colorectal cancer risk in East Asians
[PMID 22848671] Association of eleven common, low-penetrance colorectal cancer susceptibility genetic variants at six risk loci with clinical outcome.
[PMID 25640388] Intronic Polymorphisms of the SMAD7 Gene in Association with Colorectal Cancer
[PMID 26579801] Correlation Between CASC8, SMAD7 Polymorphisms and the Susceptibility to Colorectal Cancer: An Updated Meta-Analysis Based on GWAS Results
[PMID 29119627] Colorectal cancer susceptibility loci as predictive markers of rectal cancer prognosis after surgery.
[PMID 32581566] Single Nucleotide Variants Associated with Colorectal Cancer Among Iranian Patients: A Narrative Review.
