Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs752742313
rs752742313
PIK3CB
0.010 GeneticVariation BEFREE PI3K inhibitor (LY294002) inhibited the growth of an esophageal cancer cell line with a PIK3CA mutation (E545K) in vitro. 18262558

2008
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
0.020 GeneticVariation BEFREE In this analysis, small associations of the XPD Lys 751 Gln polymorphism with cancer risk for esophageal cancer [for Lys/Gln versus Lys/Lys: odds ratio (OR), 1.34; 95% confidence interval (95% CI), 1.10-1.64; for Gln/Gln versus Lys/Lys: OR, 1.61; 95% CI, 1.16-2.25] and acute lymphoblastic leukemia (for Gln/Gln versus Lys/Lys: OR, 1.83; 95% CI, 1.21-2.75) are revealed. 18349268

2008
dbSNP: rs1217691063
rs1217691063
MTHFR
0.100 GeneticVariation BEFREE We report a pooled analysis of 5 studies on the association of MTHFR C677T polymorphism and esophageal cancer, including 725 cases and 1531 controls. 18840514

2009
dbSNP: rs1217691063
rs1217691063
MTHFR
0.100 GeneticVariation BEFREE Interaction of methylenetetrahydrofolate reductase C677T, cytochrome P4502E1 polymorphism and environment factors in esophageal cancer in Kazakh population. 19058336

2008
dbSNP: rs1805329
rs1805329
RAD23B
0.010 GeneticVariation BEFREE Further, the CT genotype of the RAD23B Ala249Val was associated with increased esophageal cancer risk (OR = 1.44; 95% CI = 1.05-1.97), whereas the poly-AT-/+ genotype of the XPC intron 9 conferred a decreased risk (OR = 0.71, 95% CI = 0.51-0.97). 19270000

2009
dbSNP: rs756826500
rs756826500
ERCC1
0.010 GeneticVariation BEFREE Further, the CT genotype of the RAD23B Ala249Val was associated with increased esophageal cancer risk (OR = 1.44; 95% CI = 1.05-1.97), whereas the poly-AT-/+ genotype of the XPC intron 9 conferred a decreased risk (OR = 0.71, 95% CI = 0.51-0.97). 19270000

2009
dbSNP: rs767551092
rs767551092
XPC
0.010 GeneticVariation BEFREE Further, the CT genotype of the RAD23B Ala249Val was associated with increased esophageal cancer risk (OR = 1.44; 95% CI = 1.05-1.97), whereas the poly-AT-/+ genotype of the XPC intron 9 conferred a decreased risk (OR = 0.71, 95% CI = 0.51-0.97). 19270000

2009
dbSNP: rs758272654
rs758272654
GNAS
0.030 GeneticVariation BEFREE The results support the role of the T393C polymorphism as a predictive molecular marker for tumor response to cisplatin/5-FU-based radiochemotherapy in esophageal cancer. 19274060

2009
dbSNP: rs1042522
rs1042522
TP53
0.080 GeneticVariation BEFREE This study aimed to evaluate the prognostic significance of two functional single nucleotide polymorphisms (SNP) in the p53 pathway (p53 Arg72Pro and MDM2 T309G) in patients with esophageal cancer, and to determine the importance of histologic subtype in the SNP-outcome relationships. 19383811

2009
dbSNP: rs1131691014
rs1131691014
TP53
0.070 GeneticVariation BEFREE This study aimed to evaluate the prognostic significance of two functional single nucleotide polymorphisms (SNP) in the p53 pathway (p53 Arg72Pro and MDM2 T309G) in patients with esophageal cancer, and to determine the importance of histologic subtype in the SNP-outcome relationships. 19383811

2009
dbSNP: rs878854066
rs878854066
TP53
0.070 GeneticVariation BEFREE This study aimed to evaluate the prognostic significance of two functional single nucleotide polymorphisms (SNP) in the p53 pathway (p53 Arg72Pro and MDM2 T309G) in patients with esophageal cancer, and to determine the importance of histologic subtype in the SNP-outcome relationships. 19383811

2009
dbSNP: rs1353702185
rs1353702185
MDM2
0.010 GeneticVariation BEFREE This study aimed to evaluate the prognostic significance of two functional single nucleotide polymorphisms (SNP) in the p53 pathway (p53 Arg72Pro and MDM2 T309G) in patients with esophageal cancer, and to determine the importance of histologic subtype in the SNP-outcome relationships. 19383811

2009
dbSNP: rs25487
rs25487
XRCC1
0.040 GeneticVariation BEFREE Two non-synonymous polymorphisms Arg194Trp and Arg399Gln in the DNA-base excision repair gene X-ray repair cross-complementing group 1 (XRCC1) have been implicated in risk for esophageal cancer. 19444915

2009
dbSNP: rs1799782
rs1799782
XRCC1
0.030 GeneticVariation BEFREE Two non-synonymous polymorphisms Arg194Trp and Arg399Gln in the DNA-base excision repair gene X-ray repair cross-complementing group 1 (XRCC1) have been implicated in risk for esophageal cancer. 19444915

2009
dbSNP: rs989902
rs989902
PTPN13
0.010 GeneticVariation BEFREE Increased risks were observed with at least one of the combination genotypes of the two SNPs, Ile1522Met and Tyr2081Asp, for all but esophageal cancer examined (aOR 3.36-13.75), compared with double heterozygotes. 19672627

2010
dbSNP: rs671
rs671
ALDH2
A 0.880 GeneticVariation GWASCAT Functional variants in ADH1B and ALDH2 coupled with alcohol and smoking synergistically enhance esophageal cancer risk. 19698717

2009
dbSNP: rs1229984
rs1229984
ADH1B
G 0.840 GeneticVariation GWASCAT Functional variants in ADH1B and ALDH2 coupled with alcohol and smoking synergistically enhance esophageal cancer risk. 19698717

2009
dbSNP: rs1042522
rs1042522
TP53
0.080 GeneticVariation BEFREE When all 11 studies were pooled into the analysis, an increased esophageal cancer risk was significantly associated with the Pro variant of TP53 Arg72Pro in three genetic comparison models [odds ratio (OR)Pro vs. Arg=1.21, 95% confidence interval (CI): 1.05-1.39, POR=0.009; ORDominant genetic model=1.22, 95% CI: 1.09-1.37, POR=0.001; ORHomozygote model=1.40, 95% CI: 1.05-1.87, POR=0.024]. 20389250

2010
dbSNP: rs1131691014
rs1131691014
TP53
0.070 GeneticVariation BEFREE When all 11 studies were pooled into the analysis, an increased esophageal cancer risk was significantly associated with the Pro variant of TP53 Arg72Pro in three genetic comparison models [odds ratio (OR)Pro vs. Arg=1.21, 95% confidence interval (CI): 1.05-1.39, POR=0.009; ORDominant genetic model=1.22, 95% CI: 1.09-1.37, POR=0.001; ORHomozygote model=1.40, 95% CI: 1.05-1.87, POR=0.024]. 20389250

2010
dbSNP: rs878854066
rs878854066
TP53
0.070 GeneticVariation BEFREE When all 11 studies were pooled into the analysis, an increased esophageal cancer risk was significantly associated with the Pro variant of TP53 Arg72Pro in three genetic comparison models [odds ratio (OR)Pro vs. Arg=1.21, 95% confidence interval (CI): 1.05-1.39, POR=0.009; ORDominant genetic model=1.22, 95% CI: 1.09-1.37, POR=0.001; ORHomozygote model=1.40, 95% CI: 1.05-1.87, POR=0.024]. 20389250

2010
dbSNP: rs2234922
rs2234922
EPHX1
0.060 GeneticVariation BEFREE EPHX1 exon 4 139His/Arg, and 139Arg/Arg genotypes were associated with a higher risk of esophageal cancer in a high-risk area of India. 20659238

2010
dbSNP: rs3765524
rs3765524
PLCE1
T 0.820 GeneticVariation GWASDB A shared susceptibility locus in PLCE1 at 10q23 for gastric adenocarcinoma and esophageal squamous cell carcinoma. 20729852

2010
dbSNP: rs3765524
rs3765524
PLCE1
T 0.820 GeneticVariation GWASCAT A shared susceptibility locus in PLCE1 at 10q23 for gastric adenocarcinoma and esophageal squamous cell carcinoma. 20729852

2010
dbSNP: rs738722
rs738722
CHEK2
T 0.810 GeneticVariation GWASCAT A shared susceptibility locus in PLCE1 at 10q23 for gastric adenocarcinoma and esophageal squamous cell carcinoma. 20729852

2010
dbSNP: rs738722
rs738722
CHEK2
T 0.810 GeneticVariation GWASDB A shared susceptibility locus in PLCE1 at 10q23 for gastric adenocarcinoma and esophageal squamous cell carcinoma. 20729852

2010