Disease: Noonan Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397516829
rs397516829
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C0028326
Disease:
Noonan Syndrome 		T 0.700 CausalMutation CLINVAR Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation. 20052757 2010
dbSNP: rs397516829
rs397516829
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C0028326
Disease:
Noonan Syndrome 		T 0.700 CausalMutation CLINVAR Mutations in conserved regions 1, 2, and 3 of Raf-1 that activate transforming activity. 11933072 2002