Have questions? Visit https://www.reddit.com/r/SNPedia

rs4939827

From SNPedia

Orientationplus
Stabilizedplus
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
ReferenceGRCh38 38.1/141
Chromosome18
Position48927093
GeneSMAD7
is asnp
is mentioned by
dbSNPrs4939827
ebirs4939827
HLIrs4939827
Exacrs4939827
Varsomers4939827
Maprs4939827
PheGenIrs4939827
hapmaprs4939827
1000 genomesrs4939827
hgdprs4939827
ensemblrs4939827
gopubmedrs4939827
geneviewrs4939827
scholarrs4939827
googlers4939827
pharmgkbrs4939827
gwascentralrs4939827
openSNPrs4939827
23andMers4939827
23andMe allrs4939827
SNP Nexus

SNPshotrs4939827
SNPdbers4939827
MSV3drs4939827
GWAS Ctlgrs4939827
GMAF0.3811
Max Magnitude1.5
? (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]
Neighborrs12953717
Distance466
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 18372901OA-icon.png]
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]
OMIM612229
DescCOLORECTAL CANCER, SUSCEPTIBILITY TO, 3; CRCS3
Variant
Relatedalso
OMIM612232
DescCOLORECTAL CANCER, SUSCEPTIBILITY TO, 7; CRCS7
Variant
Relatedalso
OMIM602932
DescMOTHERS AGAINST DECAPENTAPLEGIC, DROSOPHILA, HOMOLOG OF, 7; SMAD7
Variant
Relatedalso
[PMID 20124488OA-icon.png] 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 21119214OA-icon.png] 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 21242260OA-icon.png] Common variant in 6q26-q27 is associated with distal colon cancer in an Asian population

OMIM602932
Desc
Variant0001
Relatedalso
GWAS snp
PMID [PMID 21761138OA-icon.png]
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 22367214OA-icon.png] Characterization of gene-environment interactions for colorectal cancer susceptibility loci


[PMID 21910156OA-icon.png] 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 22457752OA-icon.png] 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 19011631OA-icon.png] Meta-analysis of genome-wide association data identifies four new susceptibility loci for colorectal cancer.


[PMID 19155440OA-icon.png] Meta association of colorectal cancer confirms risk alleles at 8q24 and 18q21.


[PMID 19357349OA-icon.png] Association of common genetic variants in SMAD7 and risk of colon cancer.


[PMID 19395656OA-icon.png] The colorectal cancer risk at 18q21 is caused by a novel variant altering SMAD7 expression.


[PMID 20501757OA-icon.png] Low-penetrance susceptibility variants in familial colorectal cancer.


[PMID 20648012OA-icon.png] Association studies on 11 published colorectal cancer risk loci.


[PMID 21071539OA-icon.png] Generalizability and epidemiologic characterization of eleven colorectal cancer GWAS hits in multiple populations.


[PMID 21314996OA-icon.png] 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.


GET Evidence
rs4939827
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.585938
summary



GWAS snp
PMID [PMID 23266556OA-icon.png]
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 24448986OA-icon.png] Genome-wide association study identifies a new SMAD7 risk variant associated with colorectal cancer risk in East Asians


[PMID 22580541OA-icon.png] Association between colorectal cancer susceptibility loci and survival time after diagnosis with colorectal cancer.


[PMID 22848671OA-icon.png] Association of eleven common, low-penetrance colorectal cancer susceptibility genetic variants at six risk loci with clinical outcome.


[PMID 22999960OA-icon.png] Much of the genetic risk of colorectal cancer is likely to be mediated through susceptibility to adenomas.


[PMID 23104301OA-icon.png] Phenotypic and tumor molecular characterization of colorectal cancer in relation to a susceptibility SMAD7 variant associated with survival.


[PMID 23434150OA-icon.png] Are the common genetic variants associated with colorectal cancer risk for DNA mismatch repair gene mutation carriers?


[PMID 25375357OA-icon.png] 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 26078566OA-icon.png] Association of colorectal cancer susceptibility variants with esophageal cancer in a Chinese population


[PMID 26579801OA-icon.png] 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.