rs12953717, SMAD7

N. diseases: 18
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.900 GeneticVariation BEFREE For SNPs on 18q21 (rs12953717 and rs4464148) and 20q13 (rs4925386), alleles that correlate with higher risk for the development of CRC are associated with shorter disease free survival (DFS). 29119627 2018
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.900 GeneticVariation BEFREE The dominant model of SMAD7 rs12953717 (CT + TT genotypes) significantly increased CRC risk (HR=2.17, 95% CI=1.12-4.16) when compared to the wild-type CC genotype. 30275229 2018
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.900 GeneticVariation GWASCAT Bayesian and frequentist analysis of an Austrian genome-wide association study of colorectal cancer and advanced adenomas. 29228715 2017
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.900 GeneticVariation BEFREE Subgroup analysis according to ethnicity showed rs4464148 and rs12953717 were associated with the risk of CRC in bo</span>th Caucasians and Asians, whereas rs4939827 was a risk polymorphism for CRC specifically in Caucasians. 28070019 2016
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.900 GeneticVariation BEFREE On the other hand, rs12953717 T allele showed a statistically significant association with CRC risk (adjusted OR=1.339, 95% CI: 1.017-1.764, p=0.037). 25640388 2015
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.900 GeneticVariation BEFREE For SMAD7 gene, rs4939827 and rs4464148 are risk factors for CRC among Caucasian whereas rs12953717 could elevate the susceptibility to CRC in both Caucasian and Asian. 26579801 2015
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.900 GeneticVariation BEFREE When stratifying for race, the data showed that the rs12953717</span> was associated with a significantly increased CRC risk under all genetic models in Caucasians. 23949881 2014
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.900 GeneticVariation BEFREE Among the population-based families, both SNPs rs12953717 (odds ratio, 1.29; 95% confidence interval, 1.12-1.49), and rs11874392 (odds ratio, 0.80; 95% confidence interval, 0.70-0.92) were associated with risk of colorectal cancer. 23560096 2013
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.900 GeneticVariation BEFREE In the subgroup analysis by cancer types, SMAD7 rs12953717 polymorphism was significantly associated with colorectal cancer. 23472153 2013
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.900 GeneticVariation BEFREE Two previous genome-wide association studies identified three single nucleotide polymorphisms (SNPs) (rs4939827, rs12953717 and rs4464148) in SMAD7 to be associated with colorectal cancer in a Western population. 21221812 2011
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.900 GeneticVariation BEFREE Two recent genome-wide association studies (GWAS) identified three common variants in SMAD7 (rs4464148, rs4939827 and rs12953717) that confer modest susceptibility to colorectal cancer. 19357349 2009
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.900 GeneticVariation BEFREE Recently we have demonstrated variation in SMAD7, defined by the single nucleotide polymorphism rs12953717, to be strongly associated with risk of colorectal cancer. 18231913 2008
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.900 GeneticVariation GWASDB Meta-analysis of genome-wide association data identifies four new susceptibility loci for colorectal cancer. 19011631 2008
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.900 GeneticVariation GWASDB A genome-wide association study shows that common alleles of SMAD7 influence colorectal cancer risk. 17934461 2007