Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs4939827
rs4939827
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.900 GeneticVariation BEFREE Among those with CRC, the minor allele (G) in rs4939827 was significantly associated with poorer overall survival (hazards ratio, 1.20; 95% CI, 1.02-1.42). 23104301

2013

dbSNP: rs4939827
rs4939827
CUI: C0009402
Disease: Colorectal Carcinoma
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

dbSNP: rs4939827
rs4939827
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.900 GeneticVariation BEFREE Moreover, we found cumulative effects of three genetic factors (rs7758229, rs6983267, and rs4939827 in SMAD7) and one environmental factor (alcohol drinking) which appear to increase CRC risk approximately twofold. 21242260

2011

dbSNP: rs4939827
rs4939827
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.900 GeneticVariation BEFREE SNPs rs7229639 and rs4939827 explained approximately 1% of the familial relative risk of CRC</span> in East Asians. 24448986

2014

dbSNP: rs4939827
rs4939827
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.900 GeneticVariation BEFREE Furthermore, the A allele of rs7014346, the A allele of rs10505477, and the T allele of rs4939827 were significantly related with an elevated risk of CRC only among Caucasian.Our study suggested that for CASC8 gene, SNP of rs7837328 and rs6983267 are risk factors for CRC among both Caucasian and Asian whereas rs7014346 and rs10505477 are risky gene polymorphisms only among Caucasian. 26579801

2015

dbSNP: rs4939827
rs4939827
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.900 GeneticVariation BEFREE Among those without distant disease at diagnosis, CRC-specific survival differed by genotype only for NSAID users: each minor allele of rs4939827 was associated with worse survival [hazard ratio (HR) = 2.67, 95% confidence interval (CI): 1.33-5.37] and each minor allele of rs4464148 was associated with better survival (HR = 0.41, CI 0.18-0.94). 21910156

2011

dbSNP: rs4939827
rs4939827
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.900 GeneticVariation BEFREE Micro RNA-375 and rs4939827 SNP in SMAD7 could be considered as potential markers for detecting and early diagnosing CRC patients. 28374902

2018

dbSNP: rs4939827
rs4939827
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.900 GeneticVariation BEFREE We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative interactions between each of the SNPs [rs16892766 at 8q23.3 (EIF3H/UTP23), rs6983267 at 8q24 (MYC), rs10795668 at 10p14 (FLJ3802842), rs3802842 at 11q23 (LOC120376), rs4444235 at 14q22.2 (BMP4), rs4779584 at 15q13 (GREM1), rs9929218 at 16q22.1 (CDH1), rs4939827 at 18q21 (SMAD7), rs10411210 at 19q13.1 (RHPN2), and rs961253 at 20p12.3 (BMP2)] and select major CRC risk factors (sex, body mass index, height, smoking status, aspirin/nonsteroidal anti-inflammatory drug use, alcohol use, and dietary intake of calcium, folate, red meat, processed meat, vegetables, fruit, and fiber). 22367214

2012

dbSNP: rs4939827
rs4939827
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.900 GeneticVariation BEFREE Across the four sample sets, the association between rs4939827 and CRC was highly statistically significant (P(trend) = 1.0 x 10(-12)). 17934461

2007

dbSNP: rs4939827
rs4939827
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.900 GeneticVariation BEFREE Based on genome-wide association studies (GWAS) a linkage between several variants such as single nucleotide polymorphisms (SNPs) in intron 3 of SMAD7 (mothers against decapentaplegic homolog7) were, rs12953717, rs4464148 and rs4939827 has been noted for susceptibility to colorectal cancer (CRC). 25640388

2015

dbSNP: rs4939827
rs4939827
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.900 GeneticVariation BEFREE Among the European CRC-susceptibility SNPs, rs4939827 in SMAD7 was associated with a significant decreased risk of Korean CRC (age-/gender-adjusted odds ratio [95% confidence interval]: additive model, 0.67 [95% CI, 0.47-0.95]; dominant model, 0.59 [95% CI, 0.39-0.91]). rs4779584 and rs10795668 were associated with CRC risk in females and males, respectively. 23875689

2015

dbSNP: rs4444235
rs4444235
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.900 GeneticVariation BEFREE Our findings demonstrated that BMP4-rs4444235 is a risk factor associated with increased CRC and CRA susceptibility, but these associations vary in different ethnic populations. 25647270

2015

dbSNP: rs4444235
rs4444235
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.900 GeneticVariation BEFREE We identified four previously unreported CRC risk loci at 14q22.2 (rs4444235, BMP4; P = 8.1 x 10(-10)), 16q22.1 (rs9929218, CDH1; P = 1.2 x 10(-8)), 19q13.1 (rs10411210, RHPN2; P = 4.6 x 10(-9)) and 20p12.3 (rs961253; P = 2.0 x 10(-10)). 19011631

2008

dbSNP: rs4444235
rs4444235
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.900 GeneticVariation BEFREE This meta-analysis provides a robust estimate of the positive association between the rs4444235 and CRC risk and further emphasizes the importance of the rs4444235 in CRC risk prediction. 24932582

2014

dbSNP: rs4444235
rs4444235
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.900 GeneticVariation BEFREE We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative interactions between each of the SNPs [rs16892766 at 8q23.3 (EIF3H/UTP23), rs6983267 at 8q24 (MYC), rs10795668 at 10p14 (FLJ3802842), rs3802842 at 11q23 (LOC120376), rs4444235 at 14q22.2 (BMP4), rs4779584 at 15q13 (GREM1), rs9929218 at 16q22.1 (CDH1), rs4939827 at 18q21 (SMAD7), rs10411210 at 19q13.1 (RHPN2), and rs961253 at 20p12.3 (BMP2)] and select major CRC risk factors (sex, body mass index, height, smoking status, aspirin/nonsteroidal anti-inflammatory drug use, alcohol use, and dietary intake of calcium, folate, red meat, processed meat, vegetables, fruit, and fiber). 22367214

2012

dbSNP: rs4444235
rs4444235
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.900 GeneticVariation BEFREE We also included rs4444235 and rs9929218, which did not fulfill our selection criteria but belonged to two genes in the BMP pathway and had consistently been linked to CRC in previous studies. 20844743

2010

dbSNP: rs4444235
rs4444235
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.900 GeneticVariation BEFREE Allele-specific expression studies in CRC cell lines heterozygous for rs4444235 showed significantly increased expression of bone morphogenetic protein-4 (BMP4) associated with the risk allele (P<0.001). 22158048

2012

dbSNP: rs4444235
rs4444235
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.900 GeneticVariation BEFREE LOH analysis suggested that the three CRC risk variants, rs12657484, rs3802842, and rs4444235</span>, exhibited somatic allele-specific imbalance and might be critical during neoplastic progression. 24968322

2014

dbSNP: rs4444235
rs4444235
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.900 GeneticVariation BEFREE Additionally, our GWAS confirmed the previously reported association with CRC of five SNPs located at 3q36.2 (rs10936599), 8q24 (rs10505477), 8q24.21(rs6983267), 11q13.4 (rs3824999) and 14q22.2 (rs4444235). 24978480

2014

dbSNP: rs4444235
rs4444235
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.900 GeneticVariation BEFREE BMP4 rs4444235 is a candidate susceptibility allele that has been associated with an increased risk of colore</span>ctal cancer. 22170598

2012

dbSNP: rs4444235
rs4444235
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.900 GeneticVariation BEFREE The SNP rs4444235 at 14q22.2 interacted with regular exercise in colorectal cancer (p<sub>case-only</sub> = 2.4 × 10<sup>- 3</sup>, p<sub>case-control</sub> = 1.5 × 10<sup>- 3</sup>). 31849324

2019

dbSNP: rs4444235
rs4444235
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.900 GeneticVariation BEFREE We observed an association between the low colorectal cancer risk allele (A) for rs10795668 at 10p14 and increased expression of ATP5C1 (q = 0.024) and between the colorectal cancer high risk allele (C) for rs4444235 at 14q22.2 and increased expression of DLGAP5 (q = 0.041), both in tumor samples. 22363440

2012

dbSNP: rs4444235
rs4444235
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.900 GeneticVariation BEFREE The CRC susceptibility SNP rs4444235 also appears to exert an influence in modulating patient survival and warrants further evaluation as a potential prognostic marker. 25710502

2015

dbSNP: rs3802842
rs3802842
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.900 GeneticVariation BEFREE The results from our case-control study and meta-analysis provided convincing evidence that rs3802842 significantly contributed to CRC risk. 23029024

2012

dbSNP: rs3802842
rs3802842
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.900 GeneticVariation BEFREE A locus on human chromosome 11q23 tagged by marker rs3802842 was associated with colorectal cancer (CRC) in a genome-wide association study; this finding has been replicated in case-control studies worldwide. 24154973

2014