Variant Gene Disease Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918593
rs121918593
Malignant hyperpyrexia due to anesthesia
0.850 GeneticVariation UNIPROT Ryanodine receptor type 1 gene variants in the malignant hyperthermia-susceptible population of the United States. 23558838

2013

dbSNP: rs121918593
rs121918593
Malignant hyperpyrexia due to anesthesia
0.850 GeneticVariation UNIPROT Correlations between genotype and pharmacological, histological, functional, and clinical phenotypes in malignant hyperthermia susceptibility. 16163667

2006

dbSNP: rs121918593
rs121918593
Malignant hyperpyrexia due to anesthesia
0.850 GeneticVariation UNIPROT Malignant hyperthermia in North America: genetic screening of the three hot spots in the type I ryanodine receptor gene. 15448513

2004

dbSNP: rs121918593
rs121918593
Malignant hyperpyrexia due to anesthesia
0.850 GeneticVariation UNIPROT Mutations in the RYR1 gene in Italian patients at risk for malignant hyperthermia: evidence for a cluster of novel mutations in the C-terminal region. 12208234

2003

dbSNP: rs121918593
rs121918593
Malignant hyperpyrexia due to anesthesia
0.850 GeneticVariation UNIPROT 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. 12059893

2002

dbSNP: rs121918593
rs121918593
Malignant hyperpyrexia due to anesthesia
0.850 GeneticVariation UNIPROT North American malignant hyperthermia population: screening of the ryanodine receptor gene and identification of novel mutations. 11575529

2001

dbSNP: rs121918593
rs121918593
Malignant hyperpyrexia due to anesthesia
0.850 GeneticVariation UNIPROT Detection of a novel RYR1 mutation in four malignant hyperthermia pedigrees. 7849712

1995

dbSNP: rs121918593
rs121918593
Malignant hyperpyrexia due to anesthesia
0.850 GeneticVariation UNIPROT The substitution of Arg for Gly2433 in the human skeletal muscle ryanodine receptor is associated with malignant hyperthermia. 7881417

1995