Disease: LEOPARD SYNDROME 2 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80338797
rs80338797
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C1969056
Disease:
LEOPARD SYNDROME 2 		0.800 GeneticVariation UNIPROT Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. 17603483 2007
dbSNP: rs80338797
rs80338797
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C1969056
Disease:
LEOPARD SYNDROME 2 		C 0.800 CausalMutation CLINVAR