EGFR, epidermal growth factor receptor, 1956

N. diseases: 1394; N. variants: 183
Disease: Brain Neoplasms ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519887
rs1057519887
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0006118
Disease:
Brain Neoplasms 		AT 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057519887
rs1057519887
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0006118
Disease:
Brain Neoplasms 		AA 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057519888
rs1057519888
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0006118
Disease:
Brain Neoplasms 		G 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs139236063
rs139236063
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0006118
Disease:
Brain Neoplasms 		C 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs149840192
rs149840192
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0006118
Disease:
Brain Neoplasms 		A 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs769696078
rs769696078
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0006118
Disease:
Brain Neoplasms 		A 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057519828
rs1057519828
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0006118
Disease:
Brain Neoplasms 		A 0.700 GeneticVariation CLINVAR Epidermal growth factor receptor activation in glioblastoma through novel missense mutations in the extracellular domain. 17177598 2006
dbSNP: rs1057519829
rs1057519829
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0006118
Disease:
Brain Neoplasms 		C 0.700 GeneticVariation CLINVAR Epidermal growth factor receptor activation in glioblastoma through novel missense mutations in the extracellular domain. 17177598 2006
dbSNP: rs139236063
rs139236063
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0006118
Disease:
Brain Neoplasms 		T 0.700 GeneticVariation CLINVAR Epidermal growth factor receptor activation in glioblastoma through novel missense mutations in the extracellular domain. 17177598 2006
dbSNP: rs149840192
rs149840192
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0006118
Disease:
Brain Neoplasms 		T 0.700 GeneticVariation CLINVAR Epidermal growth factor receptor activation in glioblastoma through novel missense mutations in the extracellular domain. 17177598 2006
dbSNP: rs397517132
rs397517132
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
CUI: C0006118
Disease:
Brain Neoplasms 		0.010 GeneticVariation BEFREE PKM2-regulated MLC2 phosphorylation, which is greatly enhanced by EGF stimulation or EGFRvIII, K-Ras G12V and B-Raf V600E mutant expression, plays a pivotal role in cytokinesis, cell proliferation and brain tumour development. 25412762 2014