Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80338796
rs80338796
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
A 0.700 CausalMutation CLINVAR Germline gain-of-function mutations in RAF1 cause Noonan syndrome. 17603482

2007

dbSNP: rs80338796
rs80338796
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
A 0.700 CausalMutation CLINVAR Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. 17603483

2007