rs754945616, RASA1

N. diseases: 3
Disease: Costello syndrome (disorder) ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Costello syndrome (disorder)
CUI: C0587248
Disease: Costello syndrome (disorder)
0.010 GeneticVariation BEFREE Attenuated phenotype of Costello syndrome and early death in a patient with an HRAS mutation (c.179G>T; p.Gly60Val) affecting signalling dynamics. 28139825 2017