Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs367634266
rs367634266
ELN
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		0.010 GeneticVariation BEFREE We report a patient with Costello syndrome due to a rare tandem base substitution (c.35_36GC>AA) resulting in the p.G12E missense change. 25133308

2015