Source: UNIPROT

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913369
rs121913369
BRAF
CUI: C3150970
Disease: NOONAN SYNDROME 7
NOONAN SYNDROME 7 		0.800 GeneticVariation UNIPROT Noonan syndrome: clinical features, diagnosis, and management guidelines. 20876176

2010
dbSNP: rs121913369
rs121913369
BRAF
CUI: C3150970
Disease: NOONAN SYNDROME 7
NOONAN SYNDROME 7 		0.800 GeneticVariation UNIPROT Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum. 19206169

2009
dbSNP: rs606231228
rs606231228
BRAF
CUI: C3150970
Disease: NOONAN SYNDROME 7
NOONAN SYNDROME 7 		0.800 GeneticVariation UNIPROT Noonan syndrome: clinical features, diagnosis, and management guidelines. 20876176

2010