Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2274223
rs2274223
Entrez Id: 51196
Gene Symbol: PLCE1
PLCE1
CUI: C0279626
Disease:
Squamous cell carcinoma of esophagus
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
Entrez Id: 51196
Gene Symbol: PLCE1
PLCE1
CUI: C0279626
Disease:
Squamous cell carcinoma of esophagus
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
Entrez Id: 51196
Gene Symbol: PLCE1
PLCE1
CUI: C0279626
Disease:
Squamous cell carcinoma of esophagus
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: rs11187870
rs11187870
Entrez Id: 51196;64318
Gene Symbol: PLCE1;NOC3L
PLCE1;NOC3L
CUI: C0279626
Disease:
Squamous cell carcinoma of esophagus
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
Entrez Id: 51196
Gene Symbol: PLCE1
PLCE1
CUI: C0279626
Disease:
Squamous cell carcinoma of esophagus
0.800 GeneticVariation BEFREE To the best of our knowledge, this is the first study to report an association between rs2274223 and rs4072037 and the risk of oesophageal squamous cell carcinoma in a Caucasian population. 22805490 2012
dbSNP: rs17417407
rs17417407
Entrez Id: 51196
Gene Symbol: PLCE1
PLCE1
CUI: C0279626
Disease:
Squamous cell carcinoma of esophagus
0.020 GeneticVariation BEFREE We genotyped five PLCE1 variants in cases and controls, and found association of Arg548Leu (rs17417407) with a reduced risk of OSCC (OR = 0.74, 95% CI = 0.60-0.93, P = 0.008) in the Black population. 22865593 2012
dbSNP: rs2274223
rs2274223
Entrez Id: 51196
Gene Symbol: PLCE1
PLCE1
CUI: C0279626
Disease:
Squamous cell carcinoma of esophagus
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: rs11599672
rs11599672
Entrez Id: 51196;105378438
Gene Symbol: PLCE1;LOC105378438
PLCE1;LOC105378438
CUI: C0279626
Disease:
Squamous cell carcinoma of esophagus
0.010 GeneticVariation BEFREE Overall, rs11599672 SNP had no influence on ESCC susceptibility. 23079034 2012
dbSNP: rs2274223
rs2274223
Entrez Id: 51196
Gene Symbol: PLCE1
PLCE1
CUI: C0279626
Disease:
Squamous cell carcinoma of esophagus
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: rs2274223
rs2274223
Entrez Id: 51196
Gene Symbol: PLCE1
PLCE1
CUI: C0279626
Disease:
Squamous cell carcinoma of esophagus
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: rs17417407
rs17417407
Entrez Id: 51196
Gene Symbol: PLCE1
PLCE1
CUI: C0279626
Disease:
Squamous cell carcinoma of esophagus
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: rs2274224
rs2274224
Entrez Id: 51196;100128054
Gene Symbol: PLCE1;PLCE1-AS1
PLCE1;PLCE1-AS1
CUI: C0279626
Disease:
Squamous cell carcinoma of esophagus
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: rs2274223
rs2274223
Entrez Id: 51196
Gene Symbol: PLCE1
PLCE1
CUI: C0279626
Disease:
Squamous cell carcinoma of esophagus
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
Entrez Id: 51196
Gene Symbol: PLCE1
PLCE1
CUI: C0279626
Disease:
Squamous cell carcinoma of esophagus
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: rs2274223
rs2274223
Entrez Id: 51196
Gene Symbol: PLCE1
PLCE1
CUI: C0279626
Disease:
Squamous cell carcinoma of esophagus
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: rs12263737
rs12263737
Entrez Id: 51196;100128054
Gene Symbol: PLCE1;PLCE1-AS1
PLCE1;PLCE1-AS1
CUI: C0279626
Disease:
Squamous cell carcinoma of esophagus
0.010 GeneticVariation BEFREE We found that only 4 SNPs (rs753724, rs11187842, rs2274223, and rs12263737) with moderate linkage disequilibrium (LD) confer significantly increased risk of ESCC, with the ORs ranging from 1.43 to 2.04, and there was a risk allele dose-dependent increase in ESCC risk (P-trend=0.043). 23981775 2013
dbSNP: rs2274223
rs2274223
Entrez Id: 51196
Gene Symbol: PLCE1
PLCE1
CUI: C0279626
Disease:
Squamous cell carcinoma of esophagus
0.800 GeneticVariation BEFREE We observed that the rs2274223 polymorphism was associated with an increased risk of ESCC in this Korean case-control study and that age may modify the association between the rs13042395 polymorphism and the risk of ESCC. 24152165 2015
dbSNP: rs2274223
rs2274223
Entrez Id: 51196
Gene Symbol: PLCE1
PLCE1
CUI: C0279626
Disease:
Squamous cell carcinoma of esophagus
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
Entrez Id: 51196
Gene Symbol: PLCE1
PLCE1
CUI: C0279626
Disease:
Squamous cell carcinoma of esophagus
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
Entrez Id: 51196
Gene Symbol: PLCE1
PLCE1
CUI: C0279626
Disease:
Squamous cell carcinoma of esophagus
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
Entrez Id: 51196
Gene Symbol: PLCE1
PLCE1
CUI: C0279626
Disease:
Squamous cell carcinoma of esophagus
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
Entrez Id: 51196
Gene Symbol: PLCE1
PLCE1
CUI: C0279626
Disease:
Squamous cell carcinoma of esophagus
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
Entrez Id: 51196
Gene Symbol: PLCE1
PLCE1
CUI: C0279626
Disease:
Squamous cell carcinoma of esophagus
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: rs7922612
rs7922612
Entrez Id: 51196
Gene Symbol: PLCE1
PLCE1
CUI: C0279626
Disease:
Squamous cell carcinoma of esophagus
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: rs2274223
rs2274223
Entrez Id: 51196
Gene Symbol: PLCE1
PLCE1
CUI: C0279626
Disease:
Squamous cell carcinoma of esophagus
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