Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397507476
rs397507476
BRAF
CUI: C0036572
Disease: Seizures
Seizures 		G 0.700 GeneticVariation CLINVAR Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum. 19206169

2009
dbSNP: rs397507476
rs397507476
BRAF
CUI: C0036572
Disease: Seizures
Seizures 		G 0.700 GeneticVariation CLINVAR Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome. 18042262

2008
dbSNP: rs397507476
rs397507476
BRAF
CUI: C0036572
Disease: Seizures
Seizures 		G 0.700 GeneticVariation CLINVAR Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome. 16474404

2006