rs4939827
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 1 | 0.73x decreased risk for colorectal cancer |
| (C;T) | 1 | 0.86x decreased risk for colorectal cancer |
| (T;T) | 1.5 | 1x risk for colorectal cancer |
| Reference | GRCh38 38.1/141 |
| Chromosome | 18 |
| Position | 48927093 |
| Gene | SMAD7 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs4939827 |
| dbSNP (classic) | rs4939827 |
| ClinGen | rs4939827 |
| ebi | rs4939827 |
| HLI | rs4939827 |
| Exac | rs4939827 |
| Gnomad | rs4939827 |
| Varsome | rs4939827 |
| LitVar | rs4939827 |
| Map | rs4939827 |
| PheGenI | rs4939827 |
| Biobank | rs4939827 |
| 1000 genomes | rs4939827 |
| hgdp | rs4939827 |
| ensembl | rs4939827 |
| geneview | rs4939827 |
| scholar | rs4939827 |
| rs4939827 | |
| pharmgkb | rs4939827 |
| gwascentral | rs4939827 |
| openSNP | rs4939827 |
| 23andMe | rs4939827 |
| SNPshot | rs4939827 |
| SNPdbe | rs4939827 |
| MSV3d | rs4939827 |
| GWAS Ctlg | rs4939827 |
| GMAF | 0.3811 |
| Max Magnitude | 1.5 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
rs4939827 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 a decreased risk for the minor rs4939827(C) allele; the OR for (C;C) homozygotes is 0.73 (CI: 0.66-0.8), and for (C;T) heterozygotes 0.86 (CI: 0.79-0.92), overall p=1x10-12.[PMID 17934461]
| GWAS | |
|---|---|
| SNP | rs4939827 |
| PubMedID | [PMID 17934461] |
| Condition | Colorectal cancer |
| Gene | SMAD7 |
| Risk Allele | T |
| pValue | 1.00E-012 |
| OR | 1.16 |
| 95% CI | 1.09-1.27 |
| GWAS snp | |
|---|---|
| PMID | [PMID 18372901 ]
|
| Trait | Colorectal cancer |
| Title | Genome-wide association scan identifies a colorectal cancer susceptibility locus on 11q23 and replicates risk loci at 8q24 and 18q21 |
| Risk Allele | T |
| P-val | 7.9999999999999998E-28 |
| Odds Ratio | 1.20 [1.16-1.24] |
| GWAS snp | |
|---|---|
| PMID | [PMID 18372905] |
| Trait | Colorectal cancer |
| Title | A genome-wide association study identifies colorectal cancer susceptibility loci on chromosome 10p14 and 8q23.3 |
| Risk Allele | |
| P-val | 0.0000019999999999999999 |
| Odds Ratio | 1.18 [1.10-1.25] |
| OMIM | 602932 |
| Desc | MOTHERS AGAINST DECAPENTAPLEGIC, DROSOPHILA, HOMOLOG OF, 7; SMAD7 |
| Variant | |
| Related | also |
[PMID 20124488] Increased Risk of Colon Cancer Associated with a Genetic Polymorphism of SMAD7
[PMID 20530476] Risk of Genome-Wide Association Study-Identified Genetic Variants for Colorectal Cancer in a Chinese Population
[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 21119214] Colorectal Cancer Susceptibility Loci in a Population-Based Study: Associations with Morphological Parameters
[PMID 21221812] A risk-associated single nucleotide polymorphism of SMAD7 is common to colorectal, gastric, and lung cancers in a Han Chinese population
[PMID 21242260] Common variant in 6q26-q27 is associated with distal colon cancer in an Asian population
| GWAS snp | |
|---|---|
| PMID | [PMID 21761138]
|
| Trait | |
| Title | Meta-analysis of new genome-wide association studies of colorectal cancer risk. |
| Risk Allele | |
| P-val | 1E-7 |
| Odds Ratio | 1.1400 [1.08-1.18] |
[PMID 22367214] Characterization of gene-environment interactions for colorectal cancer susceptibility loci
[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 22457752] A Common SMAD7 Variant Is Associated with Risk of Colorectal Cancer: Evidence from a Case-Control Study and a Meta-Analysis
[PMID 22457859] Single nucleotide polymorphisms in colorectal cancer: associations with tumor site and TNM stage
[PMID 19011631] Meta-analysis of genome-wide association data identifies four new susceptibility loci for colorectal cancer.
[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 20501757] Low-penetrance susceptibility variants in familial colorectal cancer.
[PMID 20648012] Association studies on 11 published colorectal cancer risk loci.
[PMID 21071539] Generalizability and epidemiologic characterization of eleven colorectal cancer GWAS hits in multiple populations.
[PMID 21314996] Systematic search for enhancer elements and somatic allelic imbalance at seven low-penetrance colorectal cancer predisposition loci.
[PMID 22045029] Relationship between 16 susceptibility loci and colorectal cancer phenotype in 3146 patients.
[PMID 22235025] Susceptibility genetic variants associated with early-onset colorectal cancer.
| GWAS snp | |
|---|---|
| PMID | [PMID 23266556]
|
| Trait | Colorectal cancer |
| Title | Identification of Genetic Susceptibility Loci for Colorectal Tumors in a Genome-wide Meta-analysis. |
| Risk Allele | |
| P-val | 2E-10 |
| Odds Ratio | 1.12 [1.09-1.16] |
[PMID 23875689] Colorectal Cancer-Susceptibility Single Nucleotide Polymorphisms in Korean Population
[PMID 24448986] Genome-wide association study identifies a new SMAD7 risk variant associated with colorectal cancer risk in East Asians
[PMID 22580541] Association between colorectal cancer susceptibility loci and survival time after diagnosis with colorectal cancer.
[PMID 22848671] Association of eleven common, low-penetrance colorectal cancer susceptibility genetic variants at six risk loci with clinical outcome.
[PMID 22999960] Much of the genetic risk of colorectal cancer is likely to be mediated through susceptibility to adenomas.
[PMID 23104301] Phenotypic and tumor molecular characterization of colorectal cancer in relation to a susceptibility SMAD7 variant associated with survival.
[PMID 23434150] Are the common genetic variants associated with colorectal cancer risk for DNA mismatch repair gene mutation carriers?
[PMID 25375357] Multiple Functional Risk Variants in a SMAD7 Enhancer Implicate a Colorectal Cancer Risk Haplotype
[PMID 25640388] Intronic Polymorphisms of the SMAD7 Gene in Association with Colorectal Cancer
[PMID 25873010] Clinical relevance of 8q23, 15q13 and 18q21 SNP genotyping to evaluate colorectal cancer risk
[PMID 26078566] Association of colorectal cancer susceptibility variants with esophageal cancer in a Chinese population
[PMID 26579801] Correlation Between CASC8, SMAD7 Polymorphisms and the Susceptibility to Colorectal Cancer: An Updated Meta-Analysis Based on GWAS Results
[PMID 26989026] SMAD7 loci contribute to risk of hepatocellular carcinoma and clinicopathologic development among Chinese Han population.
| ClinVar | |
|---|---|
| Risk | Rs4939827(C;C) |
| Alt | Rs4939827(C;C) |
| Reference | Rs4939827(T;T) |
| Significance | Other |
| Disease | Colorectal cancer 3 |
| Variation | info |
| Gene | SMAD7 |
| CLNDBN | Colorectal cancer 3 |
| Reversed | 0 |
| HGVS | NC_000018.9:g.46453463T\x3d |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000007117.2, |
[PMID 29084532] The RS4939827 polymorphism in the SMAD7 GENE and its association with Mediterranean diet in colorectal carcinogenesis.
