Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397516815
rs397516815
RAF1
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		C 0.700 GeneticVariation CLINVAR Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. 17603483

2007