Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs193922764
rs193922764
RYR1
CUI: C0024591
Disease: Malignant hyperpyrexia due to anesthesia
Malignant hyperpyrexia due to anesthesia 		T 0.700 GeneticVariation CLINVAR Analysis of the entire ryanodine receptor type 1 and alpha 1 subunit of the dihydropyridine receptor (CACNA1S) coding regions for variants associated with malignant hyperthermia in Australian families. 25735680

2015
dbSNP: rs193922764
rs193922764
RYR1
CUI: C0024591
Disease: Malignant hyperpyrexia due to anesthesia
Malignant hyperpyrexia due to anesthesia 		T 0.700 GeneticVariation CLINVAR Functional and genetic characterization of clinical malignant hyperthermia crises: a multi-centre study. 24433488

2014
dbSNP: rs193922764
rs193922764
RYR1
CUI: C0024591
Disease: Malignant hyperpyrexia due to anesthesia
Malignant hyperpyrexia due to anesthesia 		T 0.700 GeneticVariation CLINVAR Skeletal muscle ryanodine receptor mutations associated with malignant hyperthermia showed enhanced intensity and sensitivity to triggering drugs when expressed in human embryonic kidney cells. 23459219

2013
dbSNP: rs193922764
rs193922764
RYR1
CUI: C0024591
Disease: Malignant hyperpyrexia due to anesthesia
Malignant hyperpyrexia due to anesthesia 		T 0.700 GeneticVariation CLINVAR Genotype-phenotype correlations in recessive RYR1-related myopathies. 23919265

2013
dbSNP: rs193922764
rs193922764
RYR1
CUI: C0024591
Disease: Malignant hyperpyrexia due to anesthesia
Malignant hyperpyrexia due to anesthesia 		T 0.700 GeneticVariation CLINVAR Identification of genetic mutations in Australian malignant hyperthermia families using sequencing of RYR1 hotspots. 18564801

2008
dbSNP: rs193922764
rs193922764
RYR1
CUI: C0024591
Disease: Malignant hyperpyrexia due to anesthesia
Malignant hyperpyrexia due to anesthesia 		T 0.700 GeneticVariation CLINVAR Adult onset multi/minicore myopathy associated with a mutation in the RYR1 gene. 14999498

2004
dbSNP: rs193922764
rs193922764
RYR1
CUI: C0024591
Disease: Malignant hyperpyrexia due to anesthesia
Malignant hyperpyrexia due to anesthesia 		T 0.700 GeneticVariation CLINVAR [Current aspects of the diagnosis of malignant hyperthermia]. 12434264

2002
dbSNP: rs193922764
rs193922764
RYR1
CUI: C0024591
Disease: Malignant hyperpyrexia due to anesthesia
Malignant hyperpyrexia due to anesthesia 		T 0.700 GeneticVariation CLINVAR Malignant hyperthermia associated with exercise-induced rhabdomyolysis or congenital abnormalities and a novel RYR1 mutation in New Zealand and Australian pedigrees. 12066726

2002
dbSNP: rs193922764
rs193922764
RYR1
CUI: C0024591
Disease: Malignant hyperpyrexia due to anesthesia
Malignant hyperpyrexia due to anesthesia 		T 0.700 GeneticVariation CLINVAR 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

2002