Source: INFERRED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894228
rs104894228
A 0.700 CausalMutation CLINVAR ClinGen's RASopathy Expert Panel consensus methods for variant interpretation. 29493581

2018

dbSNP: rs104894228
rs104894228
A 0.700 CausalMutation CLINVAR Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13C. 21438134

2011

dbSNP: rs104894228
rs104894228
A 0.700 CausalMutation CLINVAR HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation. 16329078

2006