|| susceptibility to malignant hyperthermia
|| common in complete genomics
rs118192176, aka p.Val2168Met or p.V2168M, is a SNP in the RYR1 gene leading to increased susceptibility to malignant hyperthermia when heterozygous.
[PMID 9497245] Identification of novel mutations in the ryanodine-receptor gene (RYR1) in malignant hyperthermia: genotype-phenotype correlation.
[PMID 12059893] Mutation screening in the ryanodine receptor 1 gene (RYR1) in patients susceptible to malignant hyperthermia who show definite IVCT results: identification of three novel mutations.
[PMID 12434264] [Current aspects of the diagnosis of malignant hyperthermia].
[PMID 16917943] Mutations in RYR1 in malignant hyperthermia and central core disease.
[PMID 17710899] Molecular genetic detection of susceptibility to malignant hyperthermia in Belgian families.