Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104893751
rs104893751
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.010 GeneticVariation BEFREE Two rare variants (OGG1 c.137G>A; MUTYH c.1187G>A) and one common polymorphism (NUDT1 c.426C>T) were associated with CRC risk. 21355073

2011

dbSNP: rs104894230
rs104894230
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.010 GeneticVariation BEFREE Recent evidence associates the codon 12 valine-for-glycine (G12V) mutant Ki-Ras protein with higher stage and increased lethality of colorectal carcinomas, while the codon 12 aspartate-for-glycine (G12D) Ras mutation shows no such association. 10398103

1999

dbSNP: rs1048943
rs1048943
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.070 GeneticVariation BEFREE This study examined interaction effect between smoking and two single nucleotide polymorphisms (SNPs)-CYP1A1 c.1384A>G (p.Ile462Val) and EPHX1 c.337T>C (p.Tyr113His)-in modulating colorectal cancer (CRC) risk. 20886582

2010

dbSNP: rs1048943
rs1048943
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.070 GeneticVariation BEFREE Only CYP1A1 Ile462Val was statistically significant in CRC patients over 50 years old: OR 2.05 (1.29-3.28); p = 1.25E-02 and this association was more pronounced in the female group of CRC patients after the age of 50: OR 2.72 (1.43-5.14); p = 1.14E-02. 24939416

2014

dbSNP: rs1048943
rs1048943
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.070 GeneticVariation BEFREE Our results suggest that the I462V and Msp1 polymorphisms in CYP1A1 may be an additional susceptibility factor for disease expression in Lynch syndrome because they modify the age of colorectal cancer onset by up to 4 years. 18768509

2008

dbSNP: rs1048943
rs1048943
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.070 GeneticVariation BEFREE Stratification analysis showed the association between rs1048943 A > G and CRC risk was more obvious in studies with the population-based (PB) design or high quality score. 27384991

2016

dbSNP: rs1048943
rs1048943
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.070 GeneticVariation BEFREE CYP1A1 Ile462Val may be an increased risk factor for colorectal cancer. 21246002

2011

dbSNP: rs1048943
rs1048943
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.070 GeneticVariation BEFREE A semi-quantitative food frequency questionnaire was used to assess the dietary intake of six flavonoid subclasses (flavonols, flavones, flavanones, flavan-3-ols, anthocyanidins, and isoflavones) in 923 patients with colorectal cancer and 1,846 controls; furthermore, CYP1A1 genetic variants (rs4646903 and rs1048943) were genotyped. 28273931

2017

dbSNP: rs1048943
rs1048943
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.070 GeneticVariation BEFREE Relationship between genetic polymorphism of CYP1A1 at codon 462 (Ile462Val) in colorectal cancer. 18409146

2008

dbSNP: rs1048945
rs1048945
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.020 GeneticVariation BEFREE Using DNA isolated from blood taken from patients (<i>n</i> = 312) and a control group (<i>n</i> = 320) with CRC, we have analyzed the polymorphisms of selected DNA repair genes and we have demonstrated that genotypes 51Gln/His and 148Asp/Glu of APEX gene and 23Gly/Ala of XPA gene may increase the risk of colorectal cancer. 28386271

2017

dbSNP: rs1048945
rs1048945
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.020 GeneticVariation BEFREE Carriers of the APEX1 codon 51 Gln/His genotype had a reduced CRC risk compared with carriers of the Gln/Gln genotype (odds ratio (OR) = 0.15, 95% CI = 0.03-0.69, P = 0.015). 21037106

2010

dbSNP: rs10490920
rs10490920
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.010 GeneticVariation BEFREE Stratification analysis by lifestyle habits showed a stronger association between rs11202607 and CRC risk among never tea drinkers than that among tea-drinkers (OR = 2.04, 95 % CI 1.29-3.22), and significant additive interaction between rs10490920 and tea drinking status was observed. 24935469

2014

dbSNP: rs1049434
rs1049434
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.010 GeneticVariation BEFREE Our study also showed that MCT1 rs1049434, rs60844753 and MCT2 rs995343 SNPs had a cumulative effect on CRC recurrence-free survival (P for trend 0.011). 25492048

2015

dbSNP: rs1050152
rs1050152
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.010 GeneticVariation BEFREE Other studies have found that mutation of rs1143627 of IL1B (allelic model: OR 2.97; 95% CI 1.74-5.05, P < 0.001) and rs1050152 of OCTN1 (allelic model: OR 1.637, 95% CI 1.078-2.485, P = 0.021) increased the proportion of IBD-associated CRC in the population. 28243990

2017

dbSNP: rs1050171
rs1050171
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.010 GeneticVariation BEFREE A synonymous polymorphism (rs1050171, p.Q787Q) was shown to be associated with improved overall survival (OS) in colorectal cancer patients. 27750395

2017

dbSNP: rs1050450
rs1050450
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.010 GeneticVariation BEFREE We therefore evaluated the risk of TT genotype in GPX-1 C599T polymorphism with the onset of gastric cancer (P=0.0001; OR=5.41, 95% CI 1.98 to 15.58) and colorectal cancer (P=0.00008; OR=4.40, 95% CI 1.93 to 10.27). 27823653

2016

dbSNP: rs10504961
rs10504961
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.010 GeneticVariation BEFREE Single-nucleotide polymorphisms in the 3'-untranslated region of UQCRB (rs7836698 and rs10504961) were investigated, and the rs7836698 polymorphism was associated with CRC clinical stage. 29147009

2017

dbSNP: rs10505477
rs10505477
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.890 GeneticVariation BEFREE Results of this study suggests that the rs6983267 and rs10505477 polymorphisms alone may not be relevant to CRC risk, but their GG haplotype plays a notable role in age at diagnosis of CRC in the Iranian population. 24528058

2014

dbSNP: rs10505477
rs10505477
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.890 GeneticVariation BEFREE Among 1,861 incident cases and 1,937 population-based controls matched on age, gender, ethnicity, and clinic, rs10505477 was associated with risk of CRC in a dominant model, with an odds ratio = 1.23, 95% confidence interval = 1.05-1.43, (p = 0.008). 17630503

2007

dbSNP: rs10505477
rs10505477
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.890 GeneticVariation BEFREE A meta-analysis of included studies of rs10505477 polymorphisms identified allelic and genotypic associations with CRC risk in the US patients. 21722176

2011

dbSNP: rs10505477
rs10505477
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.890 GeneticVariation BEFREE Long non-coding RNA (lncRNA) CASC8 rs10505477 polymorphism has been identified to be related to risk of many kinds of cancers, such as colorectal cancer, gastric cancer, and invasive ovarian cancer, and it may be involved in the prognosis of gastric cancer patients who have received platinum-based chemotherapy after surgical treatment. 27249003

2016

dbSNP: rs10505477
rs10505477
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.890 GeneticVariation BEFREE In particular, both homozygous TT and heterozygous CT genotypes of rs10505477, as well as the GG and TG genotypes of rs6983267, were associated with risk of colorectal cancer.Our study provides summary evidence that common variants in the 8q24 are associated with risk of colorectal cancer in this large-scale research synopsis and meta-analysis. 30170403

2018

dbSNP: rs10505477
rs10505477
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.890 GeneticVariation BEFREE In conclusion, some variants associated with CRC risk (rs10505477, rs6983267, rs10795668 and rs11255841) are also involved in the susceptibility to CRA and specific subtypes. 30194776

2019

dbSNP: rs10505477
rs10505477
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.890 GeneticVariation BEFREE Genome-wide association studies have identified the SNP rs10505477 and SNP rs1562430 in CASC8 were associated with risk of the colorectal cancer (CRC) and breast cancer, respectively. 25302443

2015

dbSNP: rs10505477
rs10505477
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.890 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