Variant Gene Disease Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs118192172
rs118192172
Malignant hyperpyrexia due to anesthesia
0.900 GeneticVariation UNIPROT

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

dbSNP: rs118192177
rs118192177
Malignant hyperpyrexia due to anesthesia
0.820 GeneticVariation UNIPROT Ryanodine receptor type 1 gene variants in the malignant hyperthermia-susceptible population of the United States. 23558838

2013

dbSNP: rs118192177
rs118192177
Malignant hyperpyrexia due to anesthesia
0.820 GeneticVariation UNIPROT Correlations between genotype and pharmacological, histological, functional, and clinical phenotypes in malignant hyperthermia susceptibility. 16163667

2006

dbSNP: rs118192177
rs118192177
Malignant hyperpyrexia due to anesthesia
0.820 GeneticVariation UNIPROT Malignant hyperthermia in North America: genetic screening of the three hot spots in the type I ryanodine receptor gene. 15448513

2004

dbSNP: rs118192177
rs118192177
Malignant hyperpyrexia due to anesthesia
0.820 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: rs118192177
rs118192177
Malignant hyperpyrexia due to anesthesia
0.820 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: rs118192177
rs118192177
Malignant hyperpyrexia due to anesthesia
0.820 GeneticVariation UNIPROT North American malignant hyperthermia population: screening of the ryanodine receptor gene and identification of novel mutations. 11575529

2001

dbSNP: rs118192177
rs118192177
Malignant hyperpyrexia due to anesthesia
0.820 GeneticVariation UNIPROT Identification of novel mutations in the ryanodine-receptor gene (RYR1) in malignant hyperthermia: genotype-phenotype correlation. 9497245

1998

dbSNP: rs146876145
rs146876145
Malignant hyperpyrexia due to anesthesia
0.800 GeneticVariation UNIPROT Correlations between genotype and pharmacological, histological, functional, and clinical phenotypes in malignant hyperthermia susceptibility. 16163667

2006

dbSNP: rs146876145
rs146876145
Malignant hyperpyrexia due to anesthesia
0.800 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: rs146876145
rs146876145
Malignant hyperpyrexia due to anesthesia
0.800 GeneticVariation UNIPROT Presence of two different genetic traits in malignant hyperthermia families: implication for genetic analysis, diagnosis, and incidence of malignant hyperthermia susceptibility. 12411788

2002

dbSNP: rs193922764
rs193922764
Malignant hyperpyrexia due to anesthesia
0.800 GeneticVariation UNIPROT Divergent Activity Profiles of Type 1 Ryanodine Receptor Channels Carrying Malignant Hyperthermia and Central Core Disease Mutations in the Amino-Terminal Region. 26115329

2016

dbSNP: rs193922764
rs193922764
Malignant hyperpyrexia due to anesthesia
0.800 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: rs193922764
rs193922764
Malignant hyperpyrexia due to anesthesia
0.800 GeneticVariation UNIPROT Malignant hyperthermia associated with exercise-induced rhabdomyolysis or congenital abnormalities and a novel RYR1 mutation in New Zealand and Australian pedigrees. 12066726

2002

dbSNP: rs193922768
rs193922768
Malignant hyperpyrexia due to anesthesia
0.800 GeneticVariation UNIPROT Scanning for mutations of the ryanodine receptor (RYR1) gene by denaturing HPLC: detection of three novel malignant hyperthermia alleles. 12709367

2003

dbSNP: rs193922816
rs193922816
Malignant hyperpyrexia due to anesthesia
0.800 GeneticVariation UNIPROT Presence of two different genetic traits in malignant hyperthermia families: implication for genetic analysis, diagnosis, and incidence of malignant hyperthermia susceptibility. 12411788

2002

dbSNP: rs193922816
rs193922816
Malignant hyperpyrexia due to anesthesia
0.800 GeneticVariation UNIPROT Novel mutation in the RYR1 gene (R2454C) in a patient with malignant hyperthermia. 10612851

2000