Gene: BRAF ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs869025340
rs869025340
BRAF
0.700 GeneticVariation UNIPROT

dbSNP: rs869025607
rs869025607
BRAF
C 0.700 CausalMutation CLINVAR

dbSNP: rs180177034
rs180177034
BRAF
0.810 GeneticVariation UNIPROT 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC). 25173338

2014
dbSNP: rs180177035
rs180177035
BRAF
0.810 GeneticVariation UNIPROT 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC). 25173338

2014
dbSNP: rs180177037
rs180177037
BRAF
0.810 GeneticVariation UNIPROT 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC). 25173338

2014
dbSNP: rs397507466
rs397507466
BRAF
0.810 GeneticVariation UNIPROT 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC). 25173338

2014
dbSNP: rs121913375
rs121913375
BRAF
0.800 GeneticVariation UNIPROT 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC). 25173338

2014
dbSNP: rs180177036
rs180177036
BRAF
0.800 GeneticVariation UNIPROT 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC). 25173338

2014
dbSNP: rs180177040
rs180177040
BRAF
0.800 GeneticVariation UNIPROT 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC). 25173338

2014
dbSNP: rs180177042
rs180177042
BRAF
0.800 GeneticVariation UNIPROT 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC). 25173338

2014
dbSNP: rs397507475
rs397507475
BRAF
G 0.710 GeneticVariation CLINVAR A girl with cardio-facio-cutaneous (CFC) syndrome due to a BRAF gene mutation (c.1454T→C, p.L485S) experienced repetitive epileptic spasms at the corrected age of 4 months. 20395089

2011
dbSNP: rs397507475
rs397507475
BRAF
0.710 GeneticVariation BEFREE A girl with cardio-facio-cutaneous (CFC) syndrome due to a BRAF gene mutation (c.1454T→C, p.L485S) experienced repetitive epileptic spasms at the corrected age of 4 months. 20395089

2011
dbSNP: rs121913341
rs121913341
BRAF
C 0.800 GeneticVariation CLINVAR A structural systems biology approach for quantifying the systemic consequences of missense mutations in proteins. 23093928

2012
dbSNP: rs121913369
rs121913369
BRAF
C 0.700 CausalMutation CLINVAR A structural systems biology approach for quantifying the systemic consequences of missense mutations in proteins. 23093928

2012
dbSNP: rs180177038
rs180177038
BRAF
T 0.700 CausalMutation CLINVAR A structural systems biology approach for quantifying the systemic consequences of missense mutations in proteins. 23093928

2012
dbSNP: rs180177035
rs180177035
BRAF
C 0.810 CausalMutation CLINVAR Biochemical characterization of novel germline BRAF and MEK mutations in cardio-facio-cutaneous syndrome. 18413255

2008
dbSNP: rs180177036
rs180177036
BRAF
G 0.800 CausalMutation CLINVAR Biochemical characterization of novel germline BRAF and MEK mutations in cardio-facio-cutaneous syndrome. 18413255

2008
dbSNP: rs180177042
rs180177042
BRAF
C 0.800 CausalMutation CLINVAR Biochemical characterization of novel germline BRAF and MEK mutations in cardio-facio-cutaneous syndrome. 18413255

2008
dbSNP: rs397507483
rs397507483
BRAF
A 0.800 CausalMutation CLINVAR Biochemical characterization of novel germline BRAF and MEK mutations in cardio-facio-cutaneous syndrome. 18413255

2008
dbSNP: rs121913348
rs121913348
BRAF
T 0.700 GeneticVariation CLINVAR Biochemical characterization of novel germline BRAF and MEK mutations in cardio-facio-cutaneous syndrome. 18413255

2008
dbSNP: rs180177039
rs180177039
BRAF
C 0.700 CausalMutation CLINVAR Biochemical characterization of novel germline BRAF and MEK mutations in cardio-facio-cutaneous syndrome. 18413255

2008
dbSNP: rs180177041
rs180177041
BRAF
G 0.700 GeneticVariation CLINVAR Biochemical characterization of novel germline BRAF and MEK mutations in cardio-facio-cutaneous syndrome. 18413255

2008
dbSNP: rs180177034
rs180177034
BRAF
G 0.810 CausalMutation CLINVAR Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome. 17704260

2007
dbSNP: rs180177040
rs180177040
BRAF
C 0.800 CausalMutation CLINVAR Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome. 17704260

2007
dbSNP: rs387906661
rs387906661
BRAF
G 0.800 CausalMutation CLINVAR Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome. 17704260

2007