Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434568
rs121434568
EGFR
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		A 0.800 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014
dbSNP: rs1057519848
rs1057519848
EGFR
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		GT 0.800 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014
dbSNP: rs1057519847
rs1057519847
EGFR
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		AG 0.800 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014
dbSNP: rs28929495
rs28929495
EGFR
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		C 0.750 GeneticVariation CLINVAR EGFR mutations in lung cancer: correlation with clinical response to gefitinib therapy. 15118125

2004
dbSNP: rs28929495
rs28929495
EGFR
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		C 0.750 GeneticVariation CLINVAR Activating mutations in the epidermal growth factor receptor underlying responsiveness of non-small-cell lung cancer to gefitinib. 15118073

2004
dbSNP: rs28929495
rs28929495
EGFR
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		C 0.750 GeneticVariation CLINVAR Mutations in the tyrosine kinase domain of the epidermal growth factor receptor in non-small cell lung cancer. 15788655

2005
dbSNP: rs121913465
rs121913465
EGFR ; EGFR-AS1
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		T 0.740 GeneticVariation CLINVAR EGFR mutants found in non-small cell lung cancer show different levels of sensitivity to suppression of Src: implications in targeting therapy. 17653080

2008
dbSNP: rs121913465
rs121913465
EGFR ; EGFR-AS1
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		T 0.740 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014
dbSNP: rs121913465
rs121913465
EGFR ; EGFR-AS1
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		T 0.740 GeneticVariation CLINVAR Functional analysis of epidermal growth factor receptor (EGFR) mutations and potential implications for EGFR targeted therapy. 19147750

2009
dbSNP: rs121913428
rs121913428
EGFR
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		A 0.740 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014
dbSNP: rs121913428
rs121913428
EGFR
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		A 0.740 GeneticVariation CLINVAR Erlotinib response in an NSCLC patient with a novel compound G719D+L861R mutation in EGFR. 23945392

2013
dbSNP: rs28929495
rs28929495
EGFR
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		T 0.720 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs149840192
rs149840192
EGFR
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		A 0.710 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs149840192
rs149840192
EGFR
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		T 0.710 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs121913444
rs121913444
EGFR
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		A 0.710 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs769696078
rs769696078
EGFR
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		A 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs769696078
rs769696078
EGFR
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms 		A 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs769696078
rs769696078
EGFR
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		A 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs397517116
rs397517116
EGFR ; EGFR-AS1
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		CCACGTG 0.700 GeneticVariation CLINVAR Distinct epidermal growth factor receptor and KRAS mutation patterns in non-small cell lung cancer patients with different tobacco exposure and clinicopathologic features. 16533793

2006
dbSNP: rs397517116
rs397517116
EGFR ; EGFR-AS1
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		CCACGTG 0.700 GeneticVariation CLINVAR Oncogenic transformation by inhibitor-sensitive and -resistant EGFR mutants. 16187797

2005
dbSNP: rs397517114
rs397517114
EGFR ; EGFR-AS1
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		CCCCACG 0.700 GeneticVariation CLINVAR Oncogenic transformation by inhibitor-sensitive and -resistant EGFR mutants. 16187797

2005
dbSNP: rs397517106
rs397517106
EGFR ; EGFR-AS1
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		CTCCAGGAAGCCT 0.700 GeneticVariation CLINVAR EGFR somatic doublets in lung cancer are frequent and generally arise from a pair of driver mutations uncommonly seen as singlet mutations: one-third of doublets occur at five pairs of amino acids. 18372921

2008
dbSNP: rs397517098
rs397517098
EGFR
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs397517097
rs397517097
EGFR
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		C 0.700 GeneticVariation CLINVAR Mutations in the epidermal growth factor receptor and in KRAS are predictive and prognostic indicators in patients with non-small-cell lung cancer treated with chemotherapy alone and in combination with erlotinib. 16043828

2005
dbSNP: rs397517097
rs397517097
EGFR
CUI: C0149782
Disease: Squamous cell carcinoma of lung
Squamous cell carcinoma of lung 		C 0.700 GeneticVariation CLINVAR Randomized phase II study of dacomitinib (PF-00299804), an irreversible pan-human epidermal growth factor receptor inhibitor, versus erlotinib in patients with advanced non-small-cell lung cancer. 22753918

2012