Disease: Noonan Syndrome 5 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434594
rs121434594
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C1969057
Disease:
Noonan Syndrome 5 		A 0.800 CausalMutation CLINVAR
dbSNP: rs121434594
rs121434594
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C1969057
Disease:
Noonan Syndrome 5 		C 0.800 CausalMutation CLINVAR
dbSNP: rs397516827
rs397516827
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C1969057
Disease:
Noonan Syndrome 5 		C 0.800 GeneticVariation CLINVAR
dbSNP: rs397516828
rs397516828
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C1969057
Disease:
Noonan Syndrome 5 		C 0.800 CausalMutation CLINVAR
dbSNP: rs397516830
rs397516830
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C1969057
Disease:
Noonan Syndrome 5 		T 0.800 CausalMutation CLINVAR
dbSNP: rs80338796
rs80338796
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C1969057
Disease:
Noonan Syndrome 5 		A 0.800 CausalMutation CLINVAR
dbSNP: rs80338797
rs80338797
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C1969057
Disease:
Noonan Syndrome 5 		C 0.800 CausalMutation CLINVAR
dbSNP: rs80338799
rs80338799
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C1969057
Disease:
Noonan Syndrome 5 		C 0.800 CausalMutation CLINVAR
dbSNP: rs886039607
rs886039607
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C1969057
Disease:
Noonan Syndrome 5 		G 0.700 CausalMutation CLINVAR
dbSNP: rs121434594
rs121434594
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C1969057
Disease:
Noonan Syndrome 5 		0.800 GeneticVariation UNIPROT Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. 17603483 2007
dbSNP: rs397516827
rs397516827
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C1969057
Disease:
Noonan Syndrome 5 		0.800 GeneticVariation UNIPROT Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. 17603483 2007
dbSNP: rs397516828
rs397516828
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C1969057
Disease:
Noonan Syndrome 5 		0.800 GeneticVariation UNIPROT Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. 17603483 2007
dbSNP: rs397516830
rs397516830
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C1969057
Disease:
Noonan Syndrome 5 		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: C1969057
Disease:
Noonan Syndrome 5 		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: C1969057
Disease:
Noonan Syndrome 5 		0.800 GeneticVariation UNIPROT Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. 17603483 2007
dbSNP: rs80338799
rs80338799
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C1969057
Disease:
Noonan Syndrome 5 		0.800 GeneticVariation UNIPROT Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. 17603483 2007
dbSNP: rs1448392469
rs1448392469
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C1969057
Disease:
Noonan Syndrome 5 		0.700 GeneticVariation UNIPROT Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. 17603483 2007
dbSNP: rs397516815
rs397516815
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C1969057
Disease:
Noonan Syndrome 5 		0.700 GeneticVariation UNIPROT Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. 17603483 2007
dbSNP: rs397516826
rs397516826
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C1969057
Disease:
Noonan Syndrome 5 		0.700 GeneticVariation UNIPROT Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. 17603483 2007
dbSNP: rs80338798
rs80338798
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C1969057
Disease:
Noonan Syndrome 5 		0.700 GeneticVariation UNIPROT Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. 17603483 2007
dbSNP: rs121434594
rs121434594
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C1969057
Disease:
Noonan Syndrome 5 		0.800 GeneticVariation UNIPROT Germline gain-of-function mutations in RAF1 cause Noonan syndrome. 17603482 2007
dbSNP: rs397516827
rs397516827
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C1969057
Disease:
Noonan Syndrome 5 		0.800 GeneticVariation UNIPROT Germline gain-of-function mutations in RAF1 cause Noonan syndrome. 17603482 2007
dbSNP: rs397516828
rs397516828
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C1969057
Disease:
Noonan Syndrome 5 		0.800 GeneticVariation UNIPROT Germline gain-of-function mutations in RAF1 cause Noonan syndrome. 17603482 2007
dbSNP: rs397516830
rs397516830
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C1969057
Disease:
Noonan Syndrome 5 		0.800 GeneticVariation UNIPROT Germline gain-of-function mutations in RAF1 cause Noonan syndrome. 17603482 2007
dbSNP: rs80338796
rs80338796
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C1969057
Disease:
Noonan Syndrome 5 		0.800 GeneticVariation UNIPROT Germline gain-of-function mutations in RAF1 cause Noonan syndrome. 17603482 2007