rs12953717
| Orientation | plus |
| Stabilized | plus |
| 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 |
| Reference | GRCh38 38.1/141 |
| Chromosome | 18 |
| Position | 48927559 |
| Gene | SMAD7 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs12953717 |
| dbSNP (classic) | rs12953717 |
| ClinGen | rs12953717 |
| ebi | rs12953717 |
| HLI | rs12953717 |
| Exac | rs12953717 |
| Gnomad | rs12953717 |
| Varsome | rs12953717 |
| LitVar | rs12953717 |
| Map | rs12953717 |
| PheGenI | rs12953717 |
| Biobank | rs12953717 |
| 1000 genomes | rs12953717 |
| hgdp | rs12953717 |
| ensembl | rs12953717 |
| geneview | rs12953717 |
| scholar | rs12953717 |
| rs12953717 | |
| pharmgkb | rs12953717 |
| gwascentral | rs12953717 |
| openSNP | rs12953717 |
| 23andMe | rs12953717 |
| SNPshot | rs12953717 |
| SNPdbe | rs12953717 |
| MSV3d | rs12953717 |
| GWAS Ctlg | rs12953717 |
| GMAF | 0.3251 |
| Max Magnitude | 0 |
| ? | (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]
[PMID 19562778
] Wnt antagonist gene polymorphisms and renal cancer
[PMID 19843678] Enrichment of Low Penetrance Susceptibility Loci in a Dutch Familial Colorectal Cancer Cohort
[PMID 20124488] Increased Risk of Colon Cancer Associated with a Genetic Polymorphism of SMAD7
[PMID 21179028] 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 18372901] Genome-wide association scan identifies a colorectal cancer susceptibility locus on 11q23 and replicates risk loci at 8q24 and 18q21.
[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 23472153] Association of SMAD7 rs12953717 Polymorphism with Cancer: A Meta-Analysis
[PMID 23560096] Genetic Variations in SMAD7 Are Associated with Colorectal Cancer Risk in the Colon Cancer Family Registry
[PMID 24448986] Genome-wide association study identifies a new SMAD7 risk variant associated with colorectal cancer risk in East Asians
[PMID 22848671] 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 26579801] Correlation Between CASC8, SMAD7 Polymorphisms and the Susceptibility to Colorectal Cancer: An Updated Meta-Analysis Based on GWAS Results
[PMID 29119627] Colorectal cancer susceptibility loci as predictive markers of rectal cancer prognosis after surgery.
