Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913355
rs121913355
BRAF
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		T 0.800 CausalMutation CLINVAR Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome. 18042262

2008
dbSNP: rs121913355
rs121913355
BRAF
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		T 0.800 CausalMutation CLINVAR Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome. 16474404

2006
dbSNP: rs121913355
rs121913355
BRAF
CUI: C4721532
Disease: Lymphoma, Non-Hodgkin, Familial
Lymphoma, Non-Hodgkin, Familial 		G 0.800 CausalMutation CLINVAR

dbSNP: rs121913355
rs121913355
BRAF
CUI: C0027651
Disease: Neoplasms
Neoplasms 		A 0.730 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014
dbSNP: rs121913355
rs121913355
BRAF
CUI: C0027651
Disease: Neoplasms
Neoplasms 		G 0.730 GeneticVariation CLINVAR Mechanism of activation of the RAF-ERK signaling pathway by oncogenic mutations of B-RAF. 15035987

2004
dbSNP: rs121913355
rs121913355
BRAF
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		A 0.720 CausalMutation CLINVAR Mutations of the BRAF gene in human cancer. 12068308

2002
dbSNP: rs121913355
rs121913355
BRAF
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		G 0.720 CausalMutation CLINVAR Mutations of the BRAF gene in human cancer. 12068308

2002
dbSNP: rs121913355
rs121913355
BRAF
CUI: C0025202
Disease: melanoma
melanoma 		T 0.710 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014
dbSNP: rs121913355
rs121913355
BRAF
CUI: C0025202
Disease: melanoma
melanoma 		T 0.710 GeneticVariation CLINVAR These G469E- and D594G-mutated melanomas were found to exhibit constitutive levels of phospho-extracellular signal-regulated kinase (pERK) and low levels of phospho-mitogen-activated protein kinase/ERK kinase (pMEK) and were resistant to MEK inhibition. 18794803

2009
dbSNP: rs121913355
rs121913355
BRAF
CUI: C0149782
Disease: Squamous cell carcinoma of lung
Squamous cell carcinoma of lung 		A 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs121913355
rs121913355
BRAF
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		G 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs121913355
rs121913355
BRAF
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		G 0.700 CausalMutation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs121913355
rs121913355
BRAF
CUI: C0149782
Disease: Squamous cell carcinoma of lung
Squamous cell carcinoma of lung 		T 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs121913355
rs121913355
BRAF
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		A 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs121913355
rs121913355
BRAF
CUI: C0553723
Disease: Squamous cell carcinoma of skin
Squamous cell carcinoma of skin 		T 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs121913355
rs121913355
BRAF
CUI: C0007112
Disease: Adenocarcinoma of prostate
Adenocarcinoma of prostate 		T 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs121913355
rs121913355
BRAF
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		A 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs121913355
rs121913355
BRAF
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		T 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs121913355
rs121913355
BRAF
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		G 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs121913355
rs121913355
BRAF
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		A 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs121913355
rs121913355
BRAF
CUI: C0149782
Disease: Squamous cell carcinoma of lung
Squamous cell carcinoma of lung 		G 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs121913355
rs121913355
BRAF
CUI: C0279680
Disease: Transitional cell carcinoma of bladder
Transitional cell carcinoma of bladder 		T 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs121913355
rs121913355
BRAF
CUI: C0007112
Disease: Adenocarcinoma of prostate
Adenocarcinoma of prostate 		G 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs121913355
rs121913355
BRAF
CUI: C0553723
Disease: Squamous cell carcinoma of skin
Squamous cell carcinoma of skin 		A 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs121913355
rs121913355
BRAF
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		T 0.700 CausalMutation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016