Disease: Short stature ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80338796
rs80338796
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C0349588
Disease:
Short stature 		A 0.700 CausalMutation CLINVAR Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. 17603483 2007
dbSNP: rs80338796
rs80338796
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C0349588
Disease:
Short stature 		A 0.700 CausalMutation CLINVAR Germline gain-of-function mutations in RAF1 cause Noonan syndrome. 17603482 2007