Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397517108
rs397517108
EGFR ; EGFR-AS1
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		TT 0.740 CausalMutation CLINVAR Comparing ICA-based and single-trial topographic ERP analyses. 20422446

2010
dbSNP: rs397517108
rs397517108
EGFR ; EGFR-AS1
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		TT 0.740 CausalMutation CLINVAR Functional analysis of epidermal growth factor receptor (EGFR) mutations and potential implications for EGFR targeted therapy. 19147750

2009
dbSNP: rs397517108
rs397517108
EGFR ; EGFR-AS1
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		TT 0.740 CausalMutation CLINVAR Lung cancer with epidermal growth factor receptor exon 20 mutations is associated with poor gefitinib treatment response. 18676761

2008
dbSNP: rs397517108
rs397517108
EGFR ; EGFR-AS1
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		TT 0.740 CausalMutation CLINVAR Non-responsiveness to gefitinib in a patient with lung adenocarcinoma having rare EGFR mutations S768I and V769L. 17045698

2006
dbSNP: rs397517108
rs397517108
EGFR ; EGFR-AS1
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		TT 0.740 CausalMutation CLINVAR Distinctive activation patterns in constitutively active and gefitinib-sensitive EGFR mutants. 16205628

2006
dbSNP: rs397517108
rs397517108
EGFR ; EGFR-AS1
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		TT 0.740 CausalMutation CLINVAR High frequency of epidermal growth factor receptor mutations with complex patterns in non-small cell lung cancers related to gefitinib responsiveness in Taiwan. 15623594

2004