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

rs4464148

From SNPedia

Orientationplus
Stabilizedplus
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
ReferenceGRCh38 38.1/141
Chromosome18
Position48932662
GeneSMAD7
is asnp
is mentioned by
dbSNPrs4464148
ebirs4464148
HLIrs4464148
Exacrs4464148
Varsomers4464148
Maprs4464148
PheGenIrs4464148
hapmaprs4464148
1000 genomesrs4464148
hgdprs4464148
ensemblrs4464148
gopubmedrs4464148
geneviewrs4464148
scholarrs4464148
googlers4464148
pharmgkbrs4464148
gwascentralrs4464148
openSNPrs4464148
23andMers4464148
23andMe allrs4464148
SNP Nexus

SNPshotrs4464148
SNPdbers4464148
MSV3drs4464148
GWAS Ctlgrs4464148
GMAF0.2121
Max Magnitude2
? (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 20124488OA-icon.png] 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 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 22505654OA-icon.png] GWAS-identified colorectal cancer susceptibility loci associated with clinical outcomes


[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 22554650OA-icon.png] Wound healing genes and susceptibility to cutaneous leishmaniasis in Brazil


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


[PMID 22848671OA-icon.png] 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 26579801OA-icon.png] Correlation Between CASC8, SMAD7 Polymorphisms and the Susceptibility to Colorectal Cancer: An Updated Meta-Analysis Based on GWAS Results