Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519718
rs1057519718
BRAF
CUI: C0025202
Disease: melanoma
melanoma 		TC 0.700 CausalMutation CLINVAR Kinase-dead BRAF and oncogenic RAS cooperate to drive tumor progression through CRAF. 20141835

2010
dbSNP: rs1057519718
rs1057519718
BRAF
CUI: C0025202
Disease: melanoma
melanoma 		TC 0.700 CausalMutation CLINVAR Determinants of BRAF mutations in primary melanomas. 14679157

2003
dbSNP: rs1057519718
rs1057519718
BRAF
CUI: C0025202
Disease: melanoma
melanoma 		TC 0.700 CausalMutation CLINVAR Mutations of the BRAF gene in human cancer. 12068308

2002
dbSNP: rs1057519719
rs1057519719
BRAF
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		C 0.700 CausalMutation CLINVAR Genetic predictors of MEK dependence in non-small cell lung cancer. 19010912

2008
dbSNP: rs1057519719
rs1057519719
BRAF
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		C 0.700 CausalMutation CLINVAR Missense mutations of the BRAF gene in human lung adenocarcinoma. 12460919

2002
dbSNP: rs1057519719
rs1057519719
BRAF
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		C 0.700 CausalMutation CLINVAR Clinical characteristics of patients with lung adenocarcinomas harboring BRAF mutations. 21483012

2011
dbSNP: rs1057519719
rs1057519719
BRAF
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		C 0.700 CausalMutation CLINVAR Kinase-impaired BRAF mutations in lung cancer confer sensitivity to dasatinib. 22649091

2012
dbSNP: rs1057519719
rs1057519719
BRAF
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		C 0.700 CausalMutation CLINVAR Clinical, pathologic, and biologic features associated with BRAF mutations in non-small cell lung cancer. 23833300

2013
dbSNP: rs1057519719
rs1057519719
BRAF
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		C 0.700 CausalMutation CLINVAR Mutations of the BRAF gene in human cancer. 12068308

2002
dbSNP: rs1057519719
rs1057519719
BRAF
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		C 0.700 CausalMutation CLINVAR BRAF and RAS mutations in human lung cancer and melanoma. 12460918

2002
dbSNP: rs1057519719
rs1057519719
BRAF
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		C 0.700 CausalMutation CLINVAR Alterations in genes of the EGFR signaling pathway and their relationship to EGFR tyrosine kinase inhibitor sensitivity in lung cancer cell lines. 19238210

2009
dbSNP: rs1057519720
rs1057519720
BRAF
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		AA 0.700 CausalMutation CLINVAR Missense mutations of the BRAF gene in human lung adenocarcinoma. 12460919

2002
dbSNP: rs1057519720
rs1057519720
BRAF
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		AA 0.700 CausalMutation CLINVAR BRAF and RAS mutations in human lung cancer and melanoma. 12460918

2002
dbSNP: rs1057519720
rs1057519720
BRAF
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		AA 0.700 CausalMutation CLINVAR Genetic predictors of MEK dependence in non-small cell lung cancer. 19010912

2008
dbSNP: rs1057519720
rs1057519720
BRAF
CUI: C0025202
Disease: melanoma
melanoma 		GA 0.700 GeneticVariation CLINVAR Analysis of BRAF mutation in primary and metastatic melanoma. 16096377

2005
dbSNP: rs1057519720
rs1057519720
BRAF
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		AA 0.700 CausalMutation CLINVAR Alterations in genes of the EGFR signaling pathway and their relationship to EGFR tyrosine kinase inhibitor sensitivity in lung cancer cell lines. 19238210

2009
dbSNP: rs1057519720
rs1057519720
BRAF
CUI: C0025202
Disease: melanoma
melanoma 		GA 0.700 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014
dbSNP: rs1057519720
rs1057519720
BRAF
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		AA 0.700 CausalMutation CLINVAR Mutations of the BRAF gene in human cancer. 12068308

2002
dbSNP: rs1057519720
rs1057519720
BRAF
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		AA 0.700 CausalMutation CLINVAR Kinase-impaired BRAF mutations in lung cancer confer sensitivity to dasatinib. 22649091

2012
dbSNP: rs1057519720
rs1057519720
BRAF
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		AA 0.700 CausalMutation CLINVAR Clinical characteristics of patients with lung adenocarcinomas harboring BRAF mutations. 21483012

2011
dbSNP: rs1057519720
rs1057519720
BRAF
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		AA 0.700 CausalMutation CLINVAR Clinical, pathologic, and biologic features associated with BRAF mutations in non-small cell lung cancer. 23833300

2013
dbSNP: rs1057519720
rs1057519720
BRAF
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		AA 0.700 CausalMutation CLINVAR Lung adenocarcinoma with BRAF G469L mutation refractory to vemurafenib. 24035431

2013
dbSNP: rs1131692058
rs1131692058
BRAF
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		A 0.700 CausalMutation CLINVAR

dbSNP: rs113488022
rs113488022
BRAF
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		T 0.900 CausalMutation CLINVAR

dbSNP: rs113488022
rs113488022
BRAF
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		T 0.800 CausalMutation CLINVAR Dabrafenib in patients with melanoma, untreated brain metastases, and other solid tumours: a phase 1 dose-escalation trial. 22608338

2012