Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs6854845
rs6854845
0.700 GeneticVariation GWASCAT A genome wide association study on Newfoundland colorectal cancer patients' survival outcomes. 25866641

2015

dbSNP: rs1525489
rs1525489
0.010 GeneticVariation BEFREE However, after stratification by histology (colon vs. rectum) we found that rs1525489 was associated with increased risk of rectal cancer with a (P<sub>trend</sub> of = 0.0071). 28915899

2017

dbSNP: rs17239025
rs17239025
0.010 GeneticVariation BEFREE Four SNPs in FLAP (rs17239025), ALOX12 (rs2073438), and ALOX15 (rs4796535 and rs2619112) were associated with rectal cancer risk at P ≤ 0.05. 23404351

2013

dbSNP: rs2853668
rs2853668
0.010 GeneticVariation BEFREE TERT-CLPTM1L rs2853668 also was inversely associated with rectal cancer (OR 0.62, 95% CI 0.43, 0.90). 22351525

2013

dbSNP: rs17268122
rs17268122
0.010 GeneticVariation BEFREE The screening of ABCC4 rs17268122 tagSNP and the Mandard tumor response in clinical practice may help to identify patients with different rectal cancer prognosis and contribute to an individualized therapeutic decision tree. 28011504

2017

dbSNP: rs266729
rs266729
0.010 GeneticVariation BEFREE We conclude that the rs12733285C/T genotype and the carriage of the A allele of rs1342387 (A/G or A/A) in ADIPOR1 are the protective factors for CRC, while that rs266729G/C and G allele of ADIPOQ are the risk factors for colon cancer after excluding rectal cancer cases. 21749709

2011

dbSNP: rs12733285
rs12733285
0.010 GeneticVariation BEFREE We conclude that the rs12733285C/T genotype and the carriage of the A allele of rs1342387 (A/G or A/A) in ADIPOR1 are the protective factors for CRC, while that rs266729G/C and G allele of ADIPOQ are the risk factors for colon cancer after excluding rectal cancer cases. 21749709

2011

dbSNP: rs1342387
rs1342387
0.010 GeneticVariation BEFREE We conclude that the rs12733285C/T genotype and the carriage of the A allele of rs1342387 (A/G or A/A) in ADIPOR1 are the protective factors for CRC, while that rs266729G/C and G allele of ADIPOQ are the risk factors for colon cancer after excluding rectal cancer cases. 21749709

2011

dbSNP: rs4994
rs4994
0.010 GeneticVariation BEFREE Analysis of a subgroup with a higher body mass index showed that the Trp64Arg variant increased the OR (2.63; 95% confidence interval, 1.13-6.11) for colon cancer, but not for rectal cancer, compared with the Trp64 genotype. 11706779

2001

dbSNP: rs671
rs671
0.020 GeneticVariation BEFREE However, with the rectal cancer analysis, the ORs for high alcohol consumption were greater with 487Glu/Lys genotype compared with Glu/Glu, albeit not. 12033531

2002

dbSNP: rs671
rs671
0.020 GeneticVariation BEFREE Our study supports that ALDH-2 Glu487Lys polymorphism is associated with significant reduced risks of CRC in population-based samples, and of rectal cancer in males. 25573590

2015

dbSNP: rs1126667
rs1126667
0.010 GeneticVariation BEFREE Compared with the 261Arg/Arg genotype, 12-LOX 261Arg/Gln genotype and 261Arg/Gln + Gln/Gln genotypes reduced the risk of rectal cancer by 33% (adjusted OR = 0.67, 95% CI 0.47-0.97, p = 0.03) and 32% (adjusted OR = 0.68, 95% CI 0.49-0.96, p = 0.03), respectively. 23715757

2013

dbSNP: rs2073438
rs2073438
0.010 GeneticVariation BEFREE Four SNPs in FLAP (rs17239025), ALOX12 (rs2073438), and ALOX15 (rs4796535 and rs2619112) were associated with rectal cancer risk at P ≤ 0.05. 23404351

2013

dbSNP: rs2619112
rs2619112
0.010 GeneticVariation BEFREE Four SNPs in FLAP (rs17239025), ALOX12 (rs2073438), and ALOX15 (rs4796535 and rs2619112) were associated with rectal cancer risk at P ≤ 0.05. 23404351

2013

dbSNP: rs776197565
rs776197565
APC
0.010 GeneticVariation BEFREE One SNP, rs3219489:G>C (MUTYH Q324H) seemed to confer an increased risk of rectal cancer in homozygous status (OR=1.52; CI=1.06-2.17). 20149637

2010

dbSNP: rs1801516
rs1801516
ATM
0.010 GeneticVariation BEFREE No associations were found between the IVS38-8 T/C, 5557 G/A and 5558 A/T polymorphisms and microhaplotypes in the ATM gene with respect to sporadic rectal cancer. 12827413

2004

dbSNP: rs1801673
rs1801673
ATM
0.010 GeneticVariation BEFREE No associations were found between the IVS38-8 T/C, 5557 G/A and 5558 A/T polymorphisms and microhaplotypes in the ATM gene with respect to sporadic rectal cancer. 12827413

2004

dbSNP: rs2227935
rs2227935
BLM
0.010 GeneticVariation BEFREE However, we detected a significant association of BLM P868L with an increased rectal cancer</span> risk (odds ratio = 1.29, 95% confidence interval 1.02-1.64 and P = 0.04), suggesting a potential cancer-site specificity. 19945966

2010

dbSNP: rs2228545
rs2228545
0.010 GeneticVariation BEFREE BMPR2 rs2228545 was associated with an almost twofold increased risk of rectal cancer. 21387313

2012

dbSNP: rs113488022
rs113488022
0.030 GeneticVariation BEFREE Here we report a patient with rectal cancer who carried the novel BRAF mutation VK600-601E, which has analogous molecular functions to those of the conventional BRAF mutation V600E, and may have potential as a prognostic marker for colorectal cancer (CRC). 25636897

2015

dbSNP: rs113488022
rs113488022
0.030 GeneticVariation BEFREE Compared with BRAF wild type, BRAF(V600E) was a risk for poor survival (overall survival; 5 years: 62.3% vs 51.6%, P=0.014; HR 1.43, CI 1.07-1.90, P=0.009), especially in rectal cancer (for DSS, HR: 10.60, CI: 3.04-36.92, P<0.001). 25973534

2015

dbSNP: rs113488022
rs113488022
0.030 GeneticVariation BEFREE dMMR and BRAF V600E mutations were identified in 31 of 208 (14.9%) and 23 of 211 (10.9%) tumors, respectively. dMMR was more commonly found in patients with primary colon tumors rather than rectal cancer (20.4% vs 7.6%, P =0.01), but there was no difference in MMR status between the right-sided and left-sided colon tumors (20.8% vs 34.6%, P = 0.24). dMMR was associated with early-stage rather than metastatic disease (17.3% vs 0%, P = 0.015). 25624727

2015

dbSNP: rs121913377
rs121913377
0.030 GeneticVariation BEFREE Compared with BRAF wild type, BRAF(V600E) was a risk for poor survival (overall survival; 5 years: 62.3% vs 51.6%, P=0.014; HR 1.43, CI 1.07-1.90, P=0.009), especially in rectal cancer (for DSS, HR: 10.60, CI: 3.04-36.92, P<0.001). 25973534

2015

dbSNP: rs121913377
rs121913377
0.030 GeneticVariation BEFREE Here we report a patient with rectal cancer who carried the novel BRAF mutation VK600-601E, which has analogous molecular functions to those of the conventional BRAF mutation V600E, and may have potential as a prognostic marker for colorectal cancer (CRC). 25636897

2015

dbSNP: rs121913377
rs121913377
0.030 GeneticVariation BEFREE dMMR and BRAF V600E mutations were identified in 31 of 208 (14.9%) and 23 of 211 (10.9%) tumors, respectively. dMMR was more commonly found in patients with primary colon tumors rather than rectal cancer (20.4% vs 7.6%, P =0.01), but there was no difference in MMR status between the right-sided and left-sided colon tumors (20.8% vs 34.6%, P = 0.24). dMMR was associated with early-stage rather than metastatic disease (17.3% vs 0%, P = 0.015). 25624727

2015