Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2274223
rs2274223
0.800 GeneticVariation BEFREE A notable signal was rs2274223, a nonsynonymous SNP located in PLCE1, for gastric cancer (P = 8.40 x 10(-9); per-allele odds ratio (OR) = 1.31) and ESCC (P = 3.85 x 10(-9); OR = 1.34). 20729852

2010

dbSNP: rs2274223
rs2274223
0.800 GeneticVariation BEFREE A single nucleotide polymorphism (SNP, rs2274223) in PLCE1 has been identified as a novel susceptibility locus in genome-wide association studies (GWAS) of esophageal squamous cell carcinoma (ESCC) and gastric cardia adenocarcinoma (GCA) that share similar risk factors with SCCHN. 21689432

2011

dbSNP: rs2274223
rs2274223
0.800 GeneticVariation BEFREE Consistent with the previous study, loci at rs2074356 and rs2274223 could increase the risk of ESCC, furthermore, there were significant interactions between HPV sero-status and the susceptibility loci on the risk of ESCC. 25008389

2014

dbSNP: rs2274223
rs2274223
0.800 GeneticVariation BEFREE Especially, the risk effects of rs2274223 were more evident in poor differentiation and advanced clinical stages of Kazakh ESCC. 23981775

2013

dbSNP: rs71031566
rs71031566
0.010 GeneticVariation BEFREE Here, we report the functional characterization of a four-nucleotide insertion/deletion variation (rs71031566 C----/CATTT) in PLCE1 that was associated with risk of developing ESCC. 29106514

2018

dbSNP: rs2274223
rs2274223
0.800 GeneticVariation BEFREE In additional, five variants on five genes were rated as strong cumulative epidemiological evidence for a nominally significant association with EC and ESCC risk, including CYP1A1 rs1048943, EGF rs444903, HOTAIR rs920778, MMP2 rs243865, and PLCE1 rs2274223, 10 variants were rated as moderate, and 18 variants were rated as weak. 30793520

2019

dbSNP: rs2274223
rs2274223
0.800 GeneticVariation BEFREE In conclusion, PLCE1 rs2274223 polymorphism may be used as a potential biomarker for DTC susceptibility particularly for ESCC and GCA in the Chinese population. 24874112

2014

dbSNP: rs2274223
rs2274223
0.800 GeneticVariation BEFREE In contrast to the modulation of the risk of ESCC in Asians, it is unlikely that the PLCE1 rs2274223 and RFT2 13042395 SNPs play a role in EAC or ESCC susceptibility in Dutch Caucasians. 23222411

2013

dbSNP: rs17417407
rs17417407
0.020 GeneticVariation BEFREE In the present study, we validated this finding and also explored the risk of ESCC associated with other two unreported potentially functional SNPs (rs17417407 G>T and rs2274224 C>G) of PLCE1 in a population-based case-control study to investigate the association between these three potentially functional SNPs in PLCE1 and susceptibility to ESCC. 23688607

2013

dbSNP: rs2274223
rs2274223
0.800 GeneticVariation BEFREE In this meta-analysis, the PLCE1 rs2274223 polymorphism was confirmed to have a statistically significant association with an increasing risk of ESCC and gastric cancer. 23826241

2013

dbSNP: rs2274223
rs2274223
G 0.800 GeneticVariation GWASCAT Joint analysis of three genome-wide association studies of esophageal squamous cell carcinoma in Chinese populations. 25129146

2014

dbSNP: rs2274223
rs2274223
0.800 GeneticVariation BEFREE Meta-analysis found significant associations between rs2274223 and ESCC under all analyzed genetic models. 30666517

2019

dbSNP: rs2274223
rs2274223
0.800 GeneticVariation BEFREE Our meta-analysis results indicated that PLCE1 rs2274223 G allele significantly contributed to the risk of ESCC and GCA, especially in Chinese population. 23874915

2013

dbSNP: rs7922612
rs7922612
0.010 GeneticVariation BEFREE Our study for the first time suggests that GWAS originated PLCE1 variants do not have independent role in susceptibility of ESCC in northern Indian population; however, a novel haplo-tagging SNP rs7922612 may modify survival outcome of ESCC patients. 25139097

2014

dbSNP: rs11599672
rs11599672
0.010 GeneticVariation BEFREE Overall, rs11599672 SNP had no influence on ESCC susceptibility. 23079034

2012

dbSNP: rs2274223
rs2274223
0.800 GeneticVariation BEFREE PLCE1 SNP rs2274223 A>G change may reduce gene expression, and the variant G genotypes might contribute to risk of ESCC. 22203178

2012

dbSNP: rs2274223
rs2274223
0.800 GeneticVariation BEFREE SNP rs2274223 was independently associated with increased risk of ESCC (adjusted odds ratio [OR], 2.80; 95% confidence interval [95% CI], 1.45-5.39 for GG vs. AA), and SNP rs2274224 was found to be associated with decreased risk of ESCC (adjusted OR, 0.65; 95% CI, 0.46-0.91 for CG vs. CC). 23688607

2013

dbSNP: rs2274224
rs2274224
0.010 GeneticVariation BEFREE SNP rs2274223 was independently associated with increased risk of ESCC (adjusted odds ratio [OR], 2.80; 95% confidence interval [95% CI], 1.45-5.39 for GG vs. AA), and SNP rs2274224 was found to be associated with decreased risk of ESCC (adjusted OR, 0.65; 95% CI, 0.46-0.91 for CG vs. CC). 23688607

2013

dbSNP: rs11187870
rs11187870
0.010 GeneticVariation BEFREE SNP rs2274223 was independently associated with risk of ESCC (adjusted odds ratio [OR], 1.49; 95% confidence interval [95% CI], 1.03-2.17 for GG vs AA), and SNP rs11187870 was also found to be associated with risk of ESCC assuming a dominant model (adjusted OR, 1.20; 95% CI, 1.00-1.44 for CG/CC vs GG). 22203178

2012

dbSNP: rs2274223
rs2274223
0.800 GeneticVariation BEFREE So, we aimed to replicate association of two previously reported non-synonymous polymorphisms (rs2274223A>G and rs3765524C>T) from haplotype block 10 and evaluated a novel variant (rs7922612C>T) from haplotype block 2 of PLCE1 with susceptibility and prognosis of ESCC in northern Indian population. 25139097

2014

dbSNP: rs3765524
rs3765524
0.020 GeneticVariation BEFREE So, we aimed to replicate association of two previously reported non-synonymous polymorphisms (rs2274223A>G and rs3765524C>T) from haplotype block 10 and evaluated a novel variant (rs7922612C>T) from haplotype block 2 of PLCE1 with susceptibility and prognosis of ESCC in northern Indian population. 25139097

2014

dbSNP: rs7922612
rs7922612
0.010 GeneticVariation BEFREE So, we aimed to replicate association of two previously reported non-synonymous polymorphisms (rs2274223A>G and rs3765524C>T) from haplotype block 10 and evaluated a novel variant (rs7922612C>T) from haplotype block 2 of PLCE1 with susceptibility and prognosis of ESCC in northern Indian population. 25139097

2014

dbSNP: rs17109671
rs17109671
0.010 GeneticVariation BEFREE The results showed that CC genotype of both PLCE1 rs17109671 and EGFR rs2072454 was associated with ESCC prognosis. 31209807

2019

dbSNP: rs2274223
rs2274223
0.800 GeneticVariation BEFREE These results highlighted the role of a genetic factor in ESCC and suggested that the PLCε1 rs2274223 SNP might be an effective genetic marker to assess the risk of ESCC in individuals with a UGIC family history from a region of high incidence in northern China. 23079034

2012

dbSNP: rs2274223
rs2274223
0.800 GeneticVariation BEFREE This meta-analysis demonstrated that PLCE1 rs2274223 A > G polymorphism may be associated with increased susceptibility to cancer, especially for ESCC. 25614244

2015