Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1042522
rs1042522
0.070 GeneticVariation BEFREE Restriction fragment length polymorphism-polymerase chain reaction was used to detect the genotype distribution of TP53 Pro72Arg pol</span>ymorphism in 100 patients with ESCC and 50 healthy controls from the same population. 28789369

2017

dbSNP: rs1131691014
rs1131691014
0.070 GeneticVariation BEFREE Restriction fragment length polymorphism-polymerase chain reaction was used to detect the genotype distribution of TP53 Pro72Arg pol</span>ymorphism in 100 patients with ESCC and 50 healthy controls from the same population. 28789369

2017

dbSNP: rs878854066
rs878854066
0.070 GeneticVariation BEFREE Restriction fragment length polymorphism-polymerase chain reaction was used to detect the genotype distribution of TP53 Pro72Arg pol</span>ymorphism in 100 patients with ESCC and 50 healthy controls from the same population. 28789369

2017

dbSNP: rs1042522
rs1042522
0.070 GeneticVariation BEFREE We assessed the distribution of TP53 Pro72Arg polymorphism in one hundred and fifteen and eighty two SCCOT and ESCC patients, respectively, with respect to one hundred and ten healthy controls from the same population. 25436609

2014

dbSNP: rs1042522
rs1042522
0.070 GeneticVariation BEFREE Our previous study demonstrated that p53 Arg72Pro polymorphism was associated with the risk of human papillomavirus (HPV)-related ESCC. 25153662

2014

dbSNP: rs1131691014
rs1131691014
0.070 GeneticVariation BEFREE Our previous study demonstrated that p53 Arg72Pro polymorphism was associated with the risk of human papillomavirus (HPV)-related ESCC. 25153662

2014

dbSNP: rs1131691014
rs1131691014
0.070 GeneticVariation BEFREE We assessed the distribution of TP53 Pro72Arg polymorphism in one hundred and fifteen and eighty two SCCOT and ESCC patients, respectively, with respect to one hundred and ten healthy controls from the same population. 25436609

2014

dbSNP: rs878854066
rs878854066
0.070 GeneticVariation BEFREE We assessed the distribution of TP53 Pro72Arg polymorphism in one hundred and fifteen and eighty two SCCOT and ESCC patients, respectively, with respect to one hundred and ten healthy controls from the same population. 25436609

2014

dbSNP: rs878854066
rs878854066
0.070 GeneticVariation BEFREE Our previous study demonstrated that p53 Arg72Pro polymorphism was associated with the risk of human papillomavirus (HPV)-related ESCC. 25153662

2014

dbSNP: rs1042522
rs1042522
0.070 GeneticVariation BEFREE Here we showed that the risk of ESCC was elevated in subjects with any of the variant genot</span>ypes of PTEN rs2735343 and P53 Arg</span>72Pro polymorphisms, but not any genotype of MDM2 or PTEN rs701848. 22336889

2012

dbSNP: rs1131691014
rs1131691014
0.070 GeneticVariation BEFREE Here we showed that the risk of ESCC was elevated in subjects with any of the variant genot</span>ypes of PTEN rs2735343 and P53 Arg</span>72Pro polymorphisms, but not any genotype of MDM2 or PTEN rs701848. 22336889

2012

dbSNP: rs878854066
rs878854066
0.070 GeneticVariation BEFREE Here we showed that the risk of ESCC was elevated in subjects with any of the variant genot</span>ypes of PTEN rs2735343 and P53 Arg</span>72Pro polymorphisms, but not any genotype of MDM2 or PTEN rs701848. 22336889

2012

dbSNP: rs1042522
rs1042522
0.070 GeneticVariation BEFREE These results suggest that the Pro variant of TP53 Arg72Pro is an important genetic hallmark contributing to ESCC</span> risk. 20389250

2010

dbSNP: rs1131691014
rs1131691014
0.070 GeneticVariation BEFREE These results suggest that the Pro variant of TP53 Arg72Pro is an important genetic hallmark contributing to ESCC</span> risk. 20389250

2010

dbSNP: rs878854066
rs878854066
0.070 GeneticVariation BEFREE These results suggest that the Pro variant of TP53 Arg72Pro is an important genetic hallmark contributing to ESCC</span> risk. 20389250

2010

dbSNP: rs1042522
rs1042522
0.070 GeneticVariation BEFREE Epidemiological studies in endemic geographic regions for esophageal squamous cell carcinoma (ESCC) suggested a number of risk factors, including modifications of the p53 tumor suppressor by codon Arg72Pro polymorphism, loss of heterozygosity (LOH) or human papillomavirus type 16 or 18 (HPV 16/18) infection. 17390072

2007

dbSNP: rs1131691014
rs1131691014
0.070 GeneticVariation BEFREE Epidemiological studies in endemic geographic regions for esophageal squamous cell carcinoma (ESCC) suggested a number of risk factors, including modifications of the p53 tumor suppressor by codon Arg72Pro polymorphism, loss of heterozygosity (LOH) or human papillomavirus type 16 or 18 (HPV 16/18) infection. 17390072

2007

dbSNP: rs878854066
rs878854066
0.070 GeneticVariation BEFREE Epidemiological studies in endemic geographic regions for esophageal squamous cell carcinoma (ESCC) suggested a number of risk factors, including modifications of the p53 tumor suppressor by codon Arg72Pro polymorphism, loss of heterozygosity (LOH) or human papillomavirus type 16 or 18 (HPV 16/18) infection. 17390072

2007

dbSNP: rs1042522
rs1042522
0.070 GeneticVariation BEFREE Differences in R72P and N372H were most likely a reflection of lack of Hardy-Weinberg equilibrium (HWE), however, the difference in 203G>A was due to low prevalence of GG in ESCC patients (0.22 versus 0.36 in high risk group (P=0.047), and 0.22 versus 0.40 in low risk group (P=0.010)), consistent with a disease association. 12670525

2003

dbSNP: rs1131691014
rs1131691014
0.070 GeneticVariation BEFREE Differences in R72P and N372H were most likely a reflection of lack of Hardy-Weinberg equilibrium (HWE), however, the difference in 203G>A was due to low prevalence of GG in ESCC patients (0.22 versus 0.36 in high risk group (P=0.047), and 0.22 versus 0.40 in low risk group (P=0.010)), consistent with a disease association. 12670525

2003

dbSNP: rs878854066
rs878854066
0.070 GeneticVariation BEFREE Differences in R72P and N372H were most likely a reflection of lack of Hardy-Weinberg equilibrium (HWE), however, the difference in 203G>A was due to low prevalence of GG in ESCC patients (0.22 versus 0.36 in high risk group (P=0.047), and 0.22 versus 0.40 in low risk group (P=0.010)), consistent with a disease association. 12670525

2003

dbSNP: rs879253942
rs879253942
0.010 GeneticVariation BEFREE The MTHFR C677T genotype and serum vitamin B<sub>2</sub> or B<sub>12</sub> levels may interact in ways which associated with the EPL and ESCC risks. 31754346

2019

dbSNP: rs121912651
rs121912651
0.010 GeneticVariation BEFREE Moreover, the detection of pathogenic variants, including single nucleotide substitution of TP53 (c.346C>T) and BRCA2 (c.6952C>T) and splicing of KDM6A (c.1194+2T>G), suggest that the development of ESCC in the patient was triggered by impairment of checkpoint and repair for DNA damage and epigenetic modification through accumulation of gene mutations induced by chronic graft-versus-host disease and prolonged administration of tacrolimus. 30499911

2018

dbSNP: rs28934575
rs28934575
0.010 GeneticVariation BEFREE Mutant TP53 G245C and R273H promote cellular malignancy in esophageal squamous cell carcinoma. 30126368

2018

dbSNP: rs28934576
rs28934576
0.010 GeneticVariation BEFREE Mutant TP53 G245C and R273H promote cellular malignancy in esophageal squamous cell carcinoma. 30126368

2018