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rs12953717

From SNPedia

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Stabilizedplus
Geno Mag Summary
(C;C) 1.37x increased risk for colorectal cancer
(C;T) 1.11x increased risk for colorectal cancer
(T;T) 1x normal risk for colorectal cancer
ReferenceGRCh38 38.1/141
Chromosome18
Position48927559
GeneSMAD7
is asnp
is mentioned by
dbSNPrs12953717
ebirs12953717
HLIrs12953717
Exacrs12953717
Varsomers12953717
Maprs12953717
PheGenIrs12953717
hapmaprs12953717
1000 genomesrs12953717
hgdprs12953717
ensemblrs12953717
gopubmedrs12953717
geneviewrs12953717
scholarrs12953717
googlers12953717
pharmgkbrs12953717
gwascentralrs12953717
openSNPrs12953717
23andMers12953717
23andMe allrs12953717
SNP Nexus

SNPshotrs12953717
SNPdbers12953717
MSV3drs12953717
GWAS Ctlgrs12953717
GMAF0.3251
Max Magnitude
? (C;C) (C;T) (T;T) 28
rs12953717 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 rs12953717(T) allele; the OR for (T;T) homozygotes is 1.37 (CI: 1.25-1.5), and for (C;T) heterozygotes 1.11 (CI: 1.03-1.2), overall p=9x10-12.[PMID 17934461]
Neighborrs4939827
Distance466
[PMID 19562778OA-icon.png] Wnt antagonist gene polymorphisms and renal cancer

[PMID 19843678] Enrichment of Low Penetrance Susceptibility Loci in a Dutch Familial Colorectal Cancer Cohort


[PMID 20124488OA-icon.png] Increased Risk of Colon Cancer Associated with a Genetic Polymorphism of SMAD7


[PMID 21179028OA-icon.png] Replication study of SNP associations for colorectal cancer in Hong Kong Chinese

[PMID 21221812] A risk-associated single nucleotide polymorphism of SMAD7 is common to colorectal, gastric, and lung cancers in a Han Chinese population


[PMID 18231913] Lack of a relationship between the common 18q24 variant rs12953717 and risk of chronic lymphocytic leukemia.


[PMID 18372901OA-icon.png] Genome-wide association scan identifies a colorectal cancer susceptibility locus on 11q23 and replicates risk loci at 8q24 and 18q21.


[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 23472153OA-icon.png] Association of SMAD7 rs12953717 Polymorphism with Cancer: A Meta-Analysis


[PMID 23560096OA-icon.png] Genetic Variations in SMAD7 Are Associated with Colorectal Cancer Risk in the Colon Cancer Family Registry


[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