Rs121918594

rs121918594, aka p.Arg2458His or p.R2458H, is a SNP in the RYR1 gene leading to increased susceptibility to malignant hyperthermia when heterozygous.

Mutations in RYR1 in malignant hyperthermia and central core disease.


 * is_associated_with_disease::Malignant hyperthermia
 * is_associated_with_disease::Central core myopathy