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

2016
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: C4721532
Disease: Lymphoma, Non-Hodgkin, Familial
Lymphoma, Non-Hodgkin, Familial 		G 0.800 CausalMutation CLINVAR

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: 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: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		T 0.700 CausalMutation CLINVAR Clinical biomarkers in oncology: focus on colorectal cancer. 19537845

2009
dbSNP: rs121913355
rs121913355
BRAF
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		T 0.700 CausalMutation CLINVAR

dbSNP: rs121913355
rs121913355
BRAF
CUI: C0431448
Disease: Absent eyebrow
Absent eyebrow 		T 0.700 CausalMutation CLINVAR

dbSNP: rs121913355
rs121913355
BRAF
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		G 0.700 CausalMutation CLINVAR Missense mutations of the BRAF gene in human lung adenocarcinoma. 12460919

2002
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: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		T 0.700 CausalMutation CLINVAR Mutations of the BRAF gene in human cancer. 12068308

2002
dbSNP: rs121913355
rs121913355
BRAF
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		G 0.700 CausalMutation CLINVAR Genetic predictors of MEK dependence in non-small cell lung cancer. 19010912

2008
dbSNP: rs121913355
rs121913355
BRAF
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		A 0.700 CausalMutation CLINVAR Mutations of the BRAF gene in human cancer. 12068308

2002
dbSNP: rs121913355
rs121913355
BRAF
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		G 0.700 CausalMutation CLINVAR Prognostic vs predictive molecular biomarkers in colorectal cancer: is KRAS and BRAF wild type status required for anti-EGFR therapy? 21129611

2010
dbSNP: rs121913355
rs121913355
BRAF
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		T 0.700 CausalMutation CLINVAR Prognostic and predictive biomarkers in resected colon cancer: current status and future perspectives for integrating genomics into biomarker discovery. 20350999

2010
dbSNP: rs121913355
rs121913355
BRAF
CUI: C0239234
Disease: Low set ears
Low set ears 		T 0.700 CausalMutation CLINVAR

dbSNP: rs121913355
rs121913355
BRAF
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		G 0.700 CausalMutation CLINVAR Kinase-impaired BRAF mutations in lung cancer confer sensitivity to dasatinib. 22649091

2012
dbSNP: rs121913355
rs121913355
BRAF
CUI: C1843005
Disease: Absent eyelashes
Absent eyelashes 		T 0.700 CausalMutation CLINVAR

dbSNP: rs121913355
rs121913355
BRAF
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		A 0.700 CausalMutation CLINVAR The road to resistance: EGFR mutation and cetuximab. 22310681

2012
dbSNP: rs121913355
rs121913355
BRAF
CUI: C4022855
Disease: Abnormal involuntary eye movements
Abnormal involuntary eye movements 		T 0.700 CausalMutation CLINVAR

dbSNP: rs121913355
rs121913355
BRAF
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		T 0.700 CausalMutation CLINVAR

dbSNP: rs121913355
rs121913355
BRAF
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		T 0.700 CausalMutation CLINVAR

dbSNP: rs121913355
rs121913355
BRAF
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		G 0.700 CausalMutation CLINVAR Rapid identification of somatic mutations in colorectal and breast cancer tissues using mismatch repair detection (MRD). 18186519

2008