Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1017621656
rs1017621656
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.010 GeneticVariation BEFREE We now show that stable expression of oncogenic Ki-ras(G12V) c</span>onverts the HD6-4 colon cancer cell line from insensitive to TGF-beta1 to growth-promoted by TGF-beta1. 11029459

2001

dbSNP: rs10222633
rs10222633
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.010 GeneticVariation BEFREE Haplotype analysis within linkage blocks of CASR revealed the G-G-G-G-G-A-C haplotype (rs10222633-rs10934578-rs3804592-rs17250717-A986S-R990G-rs1802757) to be associated with a decreased OS of colon cancer (HR, 3.15; 95% CI, 1.66-5.96). 28765616

2017

dbSNP: rs1039659576
rs1039659576
MTR
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.010 GeneticVariation BEFREE Neither MTR D919G nor RFC 80G>A polymorphisms were associated with altered colon cancer risk. 16284371

2005

dbSNP: rs10411210
rs10411210
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.010 GeneticVariation BEFREE A total of 927 MMR gene mutation carriers (360 MLH1, 442 MSH2, 85 MSH6 and 40 PMS2) from 315 families enrolled in the Colon Cancer Family Registry, were genotyped for the single nucleotide polymorphisms (SNPs): rs16892766 (8q23.3), rs6983267 (8q24.21), rs719725 (9p24), rs10795668 (10p14), rs3802842 (11q23.1), rs4444235 (14q22.2), rs4779584 (15q13.3), rs9929218 (16q22.1), rs4939827 (18q21.1), rs10411210 (19q13.1) and rs961253 (20p12.3). 23434150

2013

dbSNP: rs1042522
rs1042522
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.010 GeneticVariation BEFREE PIA identified SNPs that may interact with the GSTT1 polymorphism, including coding polymorphisms in TP53 (Arg72Pro in p53) and CASP8 (Asp302His in caspase 8), which may modify the association between this polymorphism and colon cancer. 16217767

2006

dbSNP: rs1042636
rs1042636
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.010 GeneticVariation BEFREE Haplotype analysis within linkage blocks of CASR revealed the G-G-G-G-G-A-C haplotype (rs10222633-rs10934578-rs3804592-rs17250717-A986S-R990G-rs1802757) to be associated with a decreased OS of colon cancer (HR, 3.15; 95% CI, 1.66-5.96). 28765616

2017

dbSNP: rs1044129
rs1044129
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.010 GeneticVariation BEFREE Among seven target variants, rs1044129 at the miR-367 binding site of calcium channel ryanodine receptor gene 3 (RYR3) was associated with relapse-free survival (RFS) for colon cancer patients as a recessive model in a univariate analysis. 23393343

2013

dbSNP: rs10450310
rs10450310
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.010 GeneticVariation BEFREE Four SNPs in the 3'-untranslated region (UTR) of the gene (rs10082466, rs2120132, rs2099902, and rs10450310) were associated with an increased risk of colon cancer in African Americans. 22282660

2012

dbSNP: rs1045485
rs1045485
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.010 GeneticVariation BEFREE PIA identified SNPs that may interact with the GSTT1 polymorphism, including coding polymorphisms in TP53 (Arg72Pro in p53) and CASP8 (Asp302His in caspase 8), which may modify the association between this polymorphism and colon cancer. 16217767

2006

dbSNP: rs1051753269
rs1051753269
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.010 GeneticVariation BEFREE Through biochemical and cellular pharmacologic studies, we have determined that cells harboring the colon cancer-derived G719S and G724S mutants are responsive to cetuximab therapy in vitro and found that the requirement for asymmetric dimerization of these mutant EGFR to promote cellular transformation may explain their greater inhibition by cetuximab than small-molecule kinase inhibitors. 24894453

2014

dbSNP: rs1057519725
rs1057519725
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.010 GeneticVariation BEFREE Furthermore, we characterized KRAS A146V biologically using colon cancer cells. 30448735

2019

dbSNP: rs1057519822
rs1057519822
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.010 GeneticVariation BEFREE V211D Mutation in MEK1 Causes Resistance to MEK Inhibitors in Colon Cancer. 31227518

2019

dbSNP: rs1060503118
rs1060503118
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.010 GeneticVariation BEFREE From the Colon Cancer Family Registry, we identified 10 carriers who had both a MUTYH mutation (6 with c.1187G>A p.(Gly396Asp), 3 with c.821G>A p.(Arg274Gln), and 1 with c.536A>G p.(Tyr179Cys)) and a MMR gene mutation (3 in MLH1, 6 in MSH2, and 1 in PMS2), 375 carriers of a single (monoallelic) MUTYH mutation alone, and 469 carriers of a MMR gene mutation alone. 26202870

2015

dbSNP: rs10741657
rs10741657
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.010 GeneticVariation BEFREE In the present study, we investigated the association of three functional gene variants in GC (rs2282679 T>G), DHCR7 (rs12785878 G>T) and CYP2R1 (rs10741657 A>G) with time to recurrence (TTR) in patients with stages II and III colon cancer. 23793229

2013

dbSNP: rs10759932
rs10759932
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.010 GeneticVariation BEFREE In contrast, the rs2770150 is associated with colon cancer in women aged over 50 years and is closely linked with the decreased levels of female sex hormones during the post-menopausal period (OR = 0.188, CI: 0.074-0.48, P = <0.00084). rs10759932 and rs4986790 appear to have any association with colon cancer. 26771524

2016

dbSNP: rs10958713
rs10958713
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.010 GeneticVariation BEFREE Three IκBKβ SNPs were associated with a statistically significant lower colorectal or colon cancer risk: rs9694958 (A>G intron 5) (colorectal: OR(hzv) = 0.26(0.07-0.99), P(trend) = 0.048, P(adj) = 0.25), rs10958713 (A>C intron 19) (colon: OR(hzv) = 0.62(0.42-0.92), P(trend) = 0.005, P(adj) = 0.03) and rs5029748 (C>A intron 2) (colon: OR(het) = 0.72(0.56-0.91), P(trend) = 0.01, P(adj) = 0.08). 23002237

2013

dbSNP: rs1130409
rs1130409
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.010 GeneticVariation BEFREE Our findings suggest that the MUTYH Gln324His and the APEX1 Asp148Glu constitutes an increased risk of colorectal cancer, especially colon cancer. 18823566

2008

dbSNP: rs1131691014
rs1131691014
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.010 GeneticVariation BEFREE PIA identified SNPs that may interact with the GSTT1 polymorphism, including coding polymorphisms in TP53 (Arg72Pro in p53) and CASP8 (Asp302His in caspase 8), which may modify the association between this polymorphism and colon cancer. 16217767

2006

dbSNP: rs1131691029
rs1131691029
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.010 GeneticVariation BEFREE There was a significant interaction between the -200A>C IGFBP3 polymorphism and the Pro12Ala PPARgamma polymorphism and risk of colon cancer (p for interaction = 0.02) with individuals being at significantly lower risk if they had both the CC IGFBP3 genotype and the PA/AA PPARgamma genotype. 16489531

2006

dbSNP: rs1136410
rs1136410
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.010 GeneticVariation BEFREE We observed that the PARP Val762Ala SNP modified the association between marine n-3 PUFA and rectal cancer risk, with no evidence of interaction among colon cancer (heterogeneity test p=0.003). 20559012

2009

dbSNP: rs11536898
rs11536898
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.010 GeneticVariation BEFREE TLR3 rs11721827 was associated with rectal cancer (odds ratio [OR] 1.27, 95% confidence interval [CI] 1.02, 1.58 for AC/CC vs. AA genotype, Wald p = 0.035; adjusted p = 0.126); TLR3 rs3775292 and TLR4 rs11536898 were associated with colon cancer (OR 0.68, 95% CI 0.49, 0.95 for GG vs. CC/CG and OR 0.50. 21792899

2012

dbSNP: rs11539752
rs11539752
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.010 GeneticVariation BEFREE These results suggest that GZMB Q55R, P94A, and Y247H polymorphisms are not significantly associated with colon cancer incidence, or metastasis to lymph node and distant organ. 25313744

2015

dbSNP: rs11615
rs11615
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.010 GeneticVariation BEFREE In women, the rs11615 CC genotype worsened TTN (co-dominant model p = 0.008, recessive model p = 0.003) and rs13181 G allele improved the TTG (p = 0.039). 31395900

2019

dbSNP: rs11625206
rs11625206
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.010 GeneticVariation BEFREE MAP2K1 rs8039880 [odds ratio (OR) = 0.57, 95% confidence interval (CI) = 0.38, 0.83; GG versus AA genotype] and MAP3K9 rs11625206 (OR = 1.41, 95% CI = 1.14, 1.76; recessive model) were associated with colon cancer (P (adj) value < 0.05). 23027623

2012

dbSNP: rs11721827
rs11721827
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.010 GeneticVariation BEFREE TLR3 rs11721827 was associated with rectal cancer (odds ratio [OR] 1.27, 95% confidence interval [CI] 1.02, 1.58 for AC/CC vs. AA genotype, Wald p = 0.035; adjusted p = 0.126); TLR3 rs3775292 and TLR4 rs11536898 were associated with colon cancer (OR 0.68, 95% CI 0.49, 0.95 for GG vs. CC/CG and OR 0.50. 21792899

2012