Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs149840192
rs149840192
EGFR
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.710 GeneticVariation BEFREE Studies have shown p.A289V mutation responding to tyrosine kinase inhibitors (TKIs) in glioblastoma cell lines suggesting the point mutation as a potential therapeutic target. 30572543

2018
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