Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397516826
rs397516826
RAF1
0.700 GeneticVariation UNIPROT Noonan syndrome associated with both a new Jnk-activating familial SOS1 and a de novo RAF1 mutations. 20683980

2010
dbSNP: rs397516826
rs397516826
RAF1
0.700 GeneticVariation UNIPROT Germline gain-of-function mutations in RAF1 cause Noonan syndrome. 17603482

2007
dbSNP: rs397516826
rs397516826
RAF1
0.700 GeneticVariation UNIPROT Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. 17603483

2007