Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913369
rs121913369
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0007131
Disease:
Non-Small Cell Lung Carcinoma
C 0.700 CausalMutation CLINVAR The intermediate-activity (L597V)BRAF mutant acts as an epistatic modifier of oncogenic RAS by enhancing signaling through the RAF/MEK/ERK pathway. 22892241 2012
dbSNP: rs121913369
rs121913369
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0007131
Disease:
Non-Small Cell Lung Carcinoma
C 0.700 CausalMutation CLINVAR A structural systems biology approach for quantifying the systemic consequences of missense mutations in proteins. 23093928 2012
dbSNP: rs121913369
rs121913369
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0007131
Disease:
Non-Small Cell Lung Carcinoma
C 0.700 CausalMutation CLINVAR Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum. 19206169 2009
dbSNP: rs121913369
rs121913369
Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0007131
Disease:
Non-Small Cell Lung Carcinoma
C 0.700 CausalMutation CLINVAR Mechanism of activation of the RAF-ERK signaling pathway by oncogenic mutations of B-RAF. 15035987 2004