Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519848
rs1057519848
EGFR
CUI: C0153676
Disease: Secondary malignant neoplasm of lung
Secondary malignant neoplasm of lung 		0.020 GeneticVariation BEFREE Oncogenic L858R mutation of human epidermal growth factor receptor (EGFR) confers constitutive activation to the kinase and is frequently observed in the pathological process of metastatic lung cancer. 27643705

2016
dbSNP: rs1057519848
rs1057519848
EGFR
CUI: C0153676
Disease: Secondary malignant neoplasm of lung
Secondary malignant neoplasm of lung 		0.020 GeneticVariation BEFREE There was a significant difference in newly development of lung metastasis between patients with exon 19 deletion and those with L858R mutation (41.4% vs. 6.3%, p=0.02).PPS was 8.9 months (95% CI, 7.4-10.4). 24309368

2014