Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113488022
rs113488022
BRAF
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms 		T 0.800 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs113488022
rs113488022
BRAF
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms 		T 0.800 GeneticVariation CLINVAR Cooperative interactions of BRAFV600E kinase and CDKN2A locus deficiency in pediatric malignant astrocytoma as a basis for rational therapy. 22586120

2012
dbSNP: rs113488022
rs113488022
BRAF
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms 		T 0.800 GeneticVariation CLINVAR Targeted therapy for BRAFV600E malignant astrocytoma. 22038996

2011
dbSNP: rs121912666
rs121912666
TP53
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms 		G 0.800 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs121912666
rs121912666
TP53
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms 		C 0.800 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs121913500
rs121913500
IDH1
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms 		T 0.790 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs121913500
rs121913500
IDH1
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms 		A 0.790 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs121913500
rs121913500
IDH1
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms 		T 0.790 GeneticVariation CLINVAR An inhibitor of mutant IDH1 delays growth and promotes differentiation of glioma cells. 23558169

2013
dbSNP: rs121913343
rs121913343
TP53
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms 		T 0.710 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs104886003
rs104886003
PIK3CA
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms 		C 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs104886003
rs104886003
PIK3CA
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: rs1057519747
rs1057519747
TP53
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms 		T 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs1057519747
rs1057519747
TP53
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms 		G 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs1057519757
rs1057519757
PIK3R1
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms 		C 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs1057519828
rs1057519828
EGFR
CUI: C0006118
Disease: Brain Neoplasms
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
EGFR
CUI: C0006118
Disease: Brain Neoplasms
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: rs1057519841
rs1057519841
PIK3R1
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms 		G 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs1057519887
rs1057519887
EGFR
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms 		AT 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs1057519887
rs1057519887
EGFR
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms 		AA 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs1057519888
rs1057519888
EGFR
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms 		G 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs1057519902
rs1057519902
H3-3A
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms 		C 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs1057519906
rs1057519906
IDH2
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms 		C 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs1057519906
rs1057519906
IDH2
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: rs1057519925
rs1057519925
PIK3CA
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: rs1057519925
rs1057519925
PIK3CA
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms 		C 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016