Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397516828
rs397516828
RAF1
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		C 0.700 CausalMutation CLINVAR External ear anomalies and hearing impairment in Noonan Syndrome. 25862627

2015
dbSNP: rs397516828
rs397516828
RAF1
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		C 0.700 CausalMutation CLINVAR A Novel Noonan Syndrome RAF1 Mutation: Lethal Course in a Preterm Infant. 26266034

2015
dbSNP: rs397516828
rs397516828
RAF1
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		A 0.700 GeneticVariation CLINVAR Two variants on chromosome 17 confer prostate cancer risk, and the one in TCF2 protects against type 2 diabetes. 17603485

2007
dbSNP: rs397516828
rs397516828
RAF1
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		A 0.700 CausalMutation CLINVAR Germline gain-of-function mutations in RAF1 cause Noonan syndrome. 17603482

2007
dbSNP: rs397516828
rs397516828
RAF1
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		A 0.700 GeneticVariation CLINVAR Germline gain-of-function mutations in RAF1 cause Noonan syndrome. 17603482

2007
dbSNP: rs397516828
rs397516828
RAF1
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		A 0.700 CausalMutation CLINVAR Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. 17603483

2007