{{Rsnum
|rsid=4939827
|Gene=SMAD7
|Chromosome=18
|position=48927093
|Orientation=plus
|GMAF=0.3811
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=SMAD7
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;T)
| geno3=(T;T)
| CEU | 29.2 | 46.9 | 23.9
| HCB | 58.4 | 35.0 | 6.6
| JPT | 69.0 | 27.4 | 3.5
| YRI | 57.8 | 33.3 | 8.8
| ASW | 36.8 | 54.4 | 8.8
| CHB | 58.4 | 35.0 | 6.6
| CHD | 51.4 | 37.6 | 11.0
| GIH | 41.6 | 44.6 | 13.9
| LWK | 53.6 | 33.6 | 12.7
| MEX | 36.2 | 50.0 | 13.8
| MKK | 46.8 | 37.8 | 15.4
| TSI | 12.7 | 55.9 | 31.4
| HapMapRevision=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<sup>-12</sup>.{{PMID|17934461}}

{{ neighbor
| rsid = 12953717
| distance = 466
}}

{{GWAS Summary
|SNP=rs4939827
|PubMedID=17934461
|Condition=Colorectal cancer
|Gene=SMAD7
|Risk Allele=T
|pValue=1.00E-012
|OR=1.16
|95CI=1.09-1.27
}}

{{PMID Auto GWAS
|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
|RiskAllele=T
|Pval=7.9999999999999998E-28
|OR=1.20
|ORtxt=[1.16-1.24]
|OA=1
}}
{{PMID Auto GWAS
|PMID=18372905
|Trait=Colorectal cancer
|Title=A genome-wide association study identifies colorectal cancer susceptibility loci on chromosome 10p14 and 8q23.3
|RiskAllele=
|Pval=0.0000019999999999999999
|OR=1.18
|ORtxt=[1.10-1.25]
}}

{{omim
|desc=COLORECTAL CANCER, SUSCEPTIBILITY TO, 3; CRCS3
|id=612229
|rsnum=4939827
}}

{{omim
|desc=COLORECTAL CANCER, SUSCEPTIBILITY TO, 7; CRCS7
|id=612232
|rsnum=4939827
}}

{{omim
|id=602932
|desc=MOTHERS AGAINST DECAPENTAPLEGIC, DROSOPHILA, HOMOLOG OF, 7; SMAD7
|rsnum=4939827
}}

{{PharmGKB
|RSID=rs4939827
|Name_s=
|Gene_s=SMAD7
|Feature=
|Evidence=PubMed ID:18372901; Web Resource:http://www.genome.gov/gwastudies/
|Annotation=GWAS Results: Genome-wide association scan identifies a colorectal cancer susceptibility locus on 11q23 and replicates risk loci at 8q24 and 18q21 (Initial Sample Size: 981 cases, 1,002 controls; Replication Sample Size: 16,476 cases, 15,351 controls; Risk Allele: rs4939827-T).
|Drugs=
|Drug Classes=
|Diseases=Colorectal Neoplasms
|Curation Level=Non-Curated
|PharmGKB Accession ID=PA162356762
}}

{{PMID Auto
|PMID=20124488
|Title=Increased Risk of Colon Cancer Associated with a Genetic Polymorphism of SMAD7
|OA=1
}}

{{PMID Auto
|PMID=20530476
|Title=Risk of Genome-Wide Association Study-Identified Genetic Variants for Colorectal Cancer in a Chinese Population
}}

{{PharmGKB
|RSID=rs4939827
|Name_s=
|Gene_s=SMAD7
|Feature=
|Evidence=PubMed ID:17934461; Web Resource:http://www.genome.gov/gwastudies/
|Annotation=GWAS Results: A genome-wide association study shows that common alleles of SMAD7 influence colorectal cancer risk (Initial Sample Size: 940 cases, 965 controls; Replication Sample Size: 7,473 cases, 5,984 controls; Risk Allele: rs4939827-T).
|Drugs=
|Drug Classes=
|Diseases=Colorectal Neoplasms
|Curation Level=Non-Curated
|PharmGKB Accession ID=PA162356691
}}
{{PMID Auto
|PMID=21075068
|Title=SMAD7 and MGMT genotype variants and cancer incidence in the European Prospective Investigation into Cancer and Nutrition (EPIC)-Norfolk Study
}}
{{PMID Auto
|PMID=21097774
|Title=Colorectal cancer susceptibility loci on chromosome 8q23.3 and 11q23.1 as modifiers for disease expression in lynch syndrome
}}
{{PMID Auto
|PMID=21119214
|Title=Colorectal Cancer Susceptibility Loci in a Population-Based Study: Associations with Morphological Parameters
|OA=1
}}
{{PMID Auto
|PMID=21221812
|Title=A risk-associated single nucleotide polymorphism of SMAD7 is common to colorectal, gastric, and lung cancers in a Han Chinese population
}}
{{PMID Auto
|PMID=21242260
|Title=Common variant in 6q26-q27 is associated with distal colon cancer in an Asian population
|OA=1
}}

{{omim
|id=602932
|rsnum=4939827
|variant=0001
}}

{{PMID Auto GWAS
|PMID=21761138
|Trait=None
|Title=Meta-analysis of new genome-wide association studies of colorectal cancer risk.
|RiskAllele=
|Pval=1E-7
|OR=1.1400
|ORtxt=[1.08-1.18]
|OA=1
}}

{{PMID Auto
|PMID=22367214
|Title=Characterization of gene-environment interactions for colorectal cancer susceptibility loci
|OA=1
}}

{{PMID Auto
|PMID=21910156
|Title=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
|OA=1
}}

{{PMID Auto
|PMID=22457752
|Title=A Common SMAD7 Variant Is Associated with Risk of Colorectal Cancer: Evidence from a Case-Control Study and a Meta-Analysis
|OA=1
}}

{{PMID Auto
|PMID=22457859
|Title=Single nucleotide polymorphisms in colorectal cancer: associations with tumor site and TNM stage
}}

{{PMID Auto
|PMID=19011631
|Title=Meta-analysis of genome-wide association data identifies four new susceptibility loci for colorectal cancer.
|OA=1
}}

{{PMID Auto
|PMID=19155440
|Title=Meta association of colorectal cancer confirms risk alleles at 8q24 and 18q21.
|OA=1
}}

{{PMID Auto
|PMID=19357349
|Title=Association of common genetic variants in SMAD7 and risk of colon cancer.
|OA=1
}}

{{PMID Auto
|PMID=19395656
|Title=The colorectal cancer risk at 18q21 is caused by a novel variant altering SMAD7 expression.
|OA=1
}}

{{PMID Auto
|PMID=20501757
|Title=Low-penetrance susceptibility variants in familial colorectal cancer.
|OA=1
}}

{{PMID Auto
|PMID=20648012
|Title=Association studies on 11 published colorectal cancer risk loci.
|OA=1
}}

{{PMID Auto
|PMID=21071539
|Title=Generalizability and epidemiologic characterization of eleven colorectal cancer GWAS hits in multiple populations.
|OA=1
}}

{{PMID Auto
|PMID=21314996
|Title=Systematic search for enhancer elements and somatic allelic imbalance at seven low-penetrance colorectal cancer predisposition loci.
|OA=1
}}

{{PMID Auto
|PMID=22045029
|Title=Relationship between 16 susceptibility loci and colorectal cancer phenotype in 3146 patients.
}}

{{PMID Auto
|PMID=22235025
|Title=Susceptibility genetic variants associated with early-onset colorectal cancer.
}}

{{GET Evidence
|impact=pathogenic
|qualified_impact=Insufficiently evaluated pathogenic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs4939827
|overall_frequency_n=75
|overall_frequency_d=128
|overall_frequency=0.585938
|n_genomes=46
|n_genomes_annotated=0
|n_haplomes=67
|n_articles=0
|n_articles_annotated=0
|in_gwas=Y
|in_pharmgkb=Y
|autoscore=2
|webscore=N
}}

{{PMID Auto GWAS
  |PMID=23266556
  |Trait=Colorectal cancer
  |Title=Identification of Genetic Susceptibility Loci for Colorectal Tumors in a Genome-wide Meta-analysis.
  |RiskAllele=
  |Pval=2E-10
  |OR=1.12
  |ORtxt=[1.09-1.16]
  |OA=1
}}

{{PMID Auto
|PMID=23875689
|Title=Colorectal Cancer-Susceptibility Single Nucleotide Polymorphisms in Korean Population
}}

{{PMID Auto
|PMID=24448986
|Title=Genome-wide association study identifies a new SMAD7 risk variant associated with colorectal cancer risk in East Asians
}}

{{PMID Auto
|PMID=22580541
|Title=Association between colorectal cancer susceptibility loci and survival time after diagnosis with colorectal cancer.
|OA=1
}}

{{PMID Auto
|PMID=22848671
|Title=Association of eleven common, low-penetrance colorectal cancer susceptibility genetic variants at six risk loci with clinical outcome.
|OA=1
}}

{{PMID Auto
|PMID=22999960
|Title=Much of the genetic risk of colorectal cancer is likely to be mediated through susceptibility to adenomas.
|OA=1
}}

{{PMID Auto
|PMID=23104301
|Title=Phenotypic and tumor molecular characterization of colorectal cancer in relation to a susceptibility SMAD7 variant associated with survival.
|OA=1
}}

{{PMID Auto
|PMID=23434150
|Title=Are the common genetic variants associated with colorectal cancer risk for DNA mismatch repair gene mutation carriers?
|OA=1
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}