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: rs80338796
rs80338796
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 		0.800 GeneticVariation UNIPROT Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. 17603483 2007
dbSNP: rs80338796
rs80338796
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C1969056
Disease:
LEOPARD SYNDROME 2 		A 0.800 CausalMutation CLINVAR
dbSNP: rs80338797
rs80338797
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C1969056
Disease:
LEOPARD SYNDROME 2 		C 0.800 CausalMutation CLINVAR
dbSNP: rs121434594
rs121434594
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C1969056
Disease:
LEOPARD SYNDROME 2 		C 0.700 CausalMutation CLINVAR
dbSNP: rs397516813
rs397516813
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C1969056
Disease:
LEOPARD SYNDROME 2 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs397516830
rs397516830
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C1969056
Disease:
LEOPARD SYNDROME 2 		T 0.700 CausalMutation CLINVAR
dbSNP: rs886039607
rs886039607
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C1969056
Disease:
LEOPARD SYNDROME 2 		G 0.700 CausalMutation CLINVAR