Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121917756
rs121917756
HRAS ; LRRC56
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		0.710 GeneticVariation UNIPROT Two disease-associated mutations, G12V and G12S, have previously been observed in patients with Costello syndrome (CS), and two other mutations, E63K and Q22K, are novel. 17412879

2007