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: rs118192161
rs118192161
Malignant hyperpyrexia due to anesthesia
0.760 GeneticVariation UNIPROT

dbSNP: rs118192176
rs118192176
Malignant hyperpyrexia due to anesthesia
0.750 GeneticVariation UNIPROT

dbSNP: rs118192162
rs118192162
Malignant hyperpyrexia due to anesthesia
0.740 GeneticVariation UNIPROT

dbSNP: rs193922748
rs193922748
Malignant hyperpyrexia due to anesthesia
0.710 GeneticVariation UNIPROT

dbSNP: rs118192178
rs118192178
Malignant hyperpyrexia due to anesthesia
0.710 GeneticVariation UNIPROT

dbSNP: rs118192168
rs118192168
Malignant hyperpyrexia due to anesthesia
0.710 GeneticVariation UNIPROT

dbSNP: rs63749869
rs63749869
Malignant hyperpyrexia due to anesthesia
0.700 GeneticVariation UNIPROT

dbSNP: rs144336148
rs144336148
Malignant hyperpyrexia due to anesthesia
0.700 GeneticVariation UNIPROT

dbSNP: rs118192116
rs118192116
Malignant hyperpyrexia due to anesthesia
0.700 GeneticVariation UNIPROT

dbSNP: rs1801086
rs1801086
Malignant hyperpyrexia due to anesthesia
0.710 GeneticVariation UNIPROT Polymorphisms and deduced amino acid substitutions in the coding sequence of the ryanodine receptor (RYR1) gene in individuals with malignant hyperthermia. 1354642

1992

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: rs121918592
rs121918592
Malignant hyperpyrexia due to anesthesia
0.740 GeneticVariation UNIPROT Detection of a novel common mutation in the ryanodine receptor gene in malignant hyperthermia: implications for diagnosis and heterogeneity studies. 8012359

1994

dbSNP: rs193922747
rs193922747
Malignant hyperpyrexia due to anesthesia
0.700 GeneticVariation UNIPROT Identification of heterozygous and homozygous individuals with the novel RYR1 mutation Cys35Arg in a large kindred. 9066328

1997

dbSNP: rs193922770
rs193922770
Malignant hyperpyrexia due to anesthesia
0.710 GeneticVariation UNIPROT Detection of a novel mutation in the ryanodine receptor gene in an Irish malignant hyperthermia pedigree: correlation of the IVCT response with the affected and unaffected haplotypes. 9138151

1997

dbSNP: rs193922772
rs193922772
Malignant hyperpyrexia due to anesthesia
0.700 GeneticVariation UNIPROT Detection of a novel mutation at amino acid position 614 in the ryanodine receptor in malignant hyperthermia. 9389851

1997

dbSNP: rs28933397
rs28933397
Malignant hyperpyrexia due to anesthesia
0.800 GeneticVariation UNIPROT Novel mutations at a CpG dinucleotide in the ryanodine receptor in malignant hyperthermia. 9450902

1998

dbSNP: rs121918594
rs121918594
Malignant hyperpyrexia due to anesthesia
0.710 GeneticVariation UNIPROT Novel mutations at a CpG dinucleotide in the ryanodine receptor in malignant hyperthermia. 9450902

1998

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: rs118192175
rs118192175
Malignant hyperpyrexia due to anesthesia
0.700 GeneticVariation UNIPROT Identification of novel mutations in the ryanodine-receptor gene (RYR1) in malignant hyperthermia: genotype-phenotype correlation. 9497245

1998

dbSNP: rs28933396
rs28933396
Malignant hyperpyrexia due to anesthesia
0.730 GeneticVariation UNIPROT Mutation screening of the RYR1 gene and identification of two novel mutations in Italian malignant hyperthermia families. 10051009

1999

dbSNP: rs118192122
rs118192122
Malignant hyperpyrexia due to anesthesia
0.720 GeneticVariation UNIPROT Mutation screening of the RYR1 gene and identification of two novel mutations in Italian malignant hyperthermia families. 10051009

1999

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

dbSNP: rs118192124
rs118192124
Malignant hyperpyrexia due to anesthesia
0.730 GeneticVariation UNIPROT Malignant hyperthermia in infancy and identification of novel RYR1 mutation. 10823104

2000