Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913446
rs121913446
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0279626
Disease:
Squamous cell carcinoma of esophagus
T 0.700 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968 2014
dbSNP: rs751295137
rs751295137
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0279626
Disease:
Squamous cell carcinoma of esophagus
0.020 GeneticVariation BEFREE Furthermore, Met activation is increased upon combinatorial overexpression of epidermal growth factor receptor (EGFR) and p53(R175H), two common genetic mutations in ESCC. 20534479 2010
dbSNP: rs760101437
rs760101437
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0279626
Disease:
Squamous cell carcinoma of esophagus
0.020 GeneticVariation BEFREE Furthermore, Met activation is increased upon combinatorial overexpression of epidermal growth factor receptor (EGFR) and p53(R175H), two common genetic mutations in ESCC. 20534479 2010
dbSNP: rs751295137
rs751295137
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0279626
Disease:
Squamous cell carcinoma of esophagus
0.020 GeneticVariation BEFREE This was achieved through the retroviral-mediated transduction into normal, primary human esophageal epithelial cells of epidermal growth factor receptor (EGFR), the catalytic subunit of human telomerase (hTERT), and p53(R175H), genes that are frequently altered in human esophageal squamous cell cancer. 17974918 2007
dbSNP: rs760101437
rs760101437
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0279626
Disease:
Squamous cell carcinoma of esophagus
0.020 GeneticVariation BEFREE This was achieved through the retroviral-mediated transduction into normal, primary human esophageal epithelial cells of epidermal growth factor receptor (EGFR), the catalytic subunit of human telomerase (hTERT), and p53(R175H), genes that are frequently altered in human esophageal squamous cell cancer. 17974918 2007
dbSNP: rs2072454
rs2072454
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0279626
Disease:
Squamous cell carcinoma of esophagus
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: rs2227983
rs2227983
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0279626
Disease:
Squamous cell carcinoma of esophagus
0.010 GeneticVariation BEFREE EGFR:rs2227983 and 3 SNPs of PIK3CA also showed borderline significant correlation with OS of advanced ESCC patients (P = 0.058 for rs2227983; P = 0.069, 0.091 and 0.067 for rs6443624, rs7651265 and rs7621329 of PIK3CA respectively). 24945674 2014
dbSNP: rs121913444
rs121913444
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0279626
Disease:
Squamous cell carcinoma of esophagus
0.010 GeneticVariation BEFREE The L861Q type of EGFR mutation with hypersensitivity to EGFR tyrosine kinase inhibitor was found in one of the eight ESCC cell lines and one del745 type of EGFR mutation was identified in 107 clinical samples. 23426935 2013