Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs180177042
rs180177042
BRAF
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		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
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		C 0.800 CausalMutation CLINVAR Mitochondrial dysfunction and organic aciduria in five patients carrying mutations in the Ras-MAPK pathway. 21063443

2011
dbSNP: rs180177042
rs180177042
BRAF
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		C 0.800 CausalMutation CLINVAR Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum. 19206169

2009
dbSNP: rs180177042
rs180177042
BRAF
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		C 0.800 CausalMutation CLINVAR Biochemical characterization of novel germline BRAF and MEK mutations in cardio-facio-cutaneous syndrome. 18413255

2008
dbSNP: rs180177042
rs180177042
BRAF
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		C 0.800 CausalMutation CLINVAR Distinguishing Costello versus cardio-facio-cutaneous syndrome: BRAF mutations in patients with a Costello phenotype. 16804887

2006
dbSNP: rs180177042
rs180177042
BRAF
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		T 0.800 CausalMutation CLINVAR

dbSNP: rs180177042
rs180177042
BRAF
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		T 0.800 GeneticVariation CLINVAR