Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121917759
rs121917759
HRAS ; LRRC56
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		A 0.800 GeneticVariation CLINVAR A structural systems biology approach for quantifying the systemic consequences of missense mutations in proteins. 23093928

2012
dbSNP: rs121917759
rs121917759
HRAS ; LRRC56
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		A 0.800 GeneticVariation CLINVAR Costello syndrome associated with novel germline HRAS mutations: an attenuated phenotype? 18247425

2008
dbSNP: rs121917759
rs121917759
HRAS ; LRRC56
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		A 0.800 GeneticVariation CLINVAR Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome. 17054105

2007
dbSNP: rs121917759
rs121917759
HRAS ; LRRC56
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		A 0.800 CausalMutation CLINVAR