Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057518885
rs1057518885
RYR1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs193922781
rs193922781
RYR1
T 0.700 CausalMutation CLINVAR

dbSNP: rs118192172
rs118192172
RYR1
0.090 GeneticVariation BEFREE A substitution of cysteine for arginine 614 in the ryanodine receptor is potentially causative of human malignant hyperthermia. 1774074

1991
dbSNP: rs118192172
rs118192172
RYR1
0.090 GeneticVariation BEFREE A cysteine-for-arginine substitution (R614C) in the human skeletal muscle calcium release channel cosegregates with malignant hyperthermia. 1510267

1992
dbSNP: rs118192172
rs118192172
RYR1
0.090 GeneticVariation BEFREE Several observations support the view that a single RYR1 mutation is causal of malignant hyperthermia in all breeds of pigs and in at least some human families: the substitution of Cys for Arg615 as the sole deduced amino acid sequence change in a comparison of malignant hyperthermia and normal porcine RYR1 cDNAs; the linkage of this mutation to malignant hyperthermia in over 450 pigs in six breeds, including 338 meioses; and the appearance of the corresponding mutation, Cys for Arg614, across a species barrier, in a few human families, where it also cosegregates with malignant hyperthermia. 1329295

1992
dbSNP: rs1801086
rs1801086
RYR1
0.010 GeneticVariation BEFREE Of 45 families tested, a single family presented the Arg for Gly248 substitution where it segregated with malignant hyperthermia, making it a candidate mutation for predisposition to MH in man. 1354642

1992
dbSNP: rs745380388
rs745380388
MEPE
0.010 GeneticVariation BEFREE Of 45 families tested, a single family presented the Arg for Gly248 substitution where it segregated with malignant hyperthermia, making it a candidate mutation for predisposition to MH in man. 1354642

1992
dbSNP: rs121918593
rs121918593
RYR1
0.070 GeneticVariation BEFREE The substitution of Arg for Gly2433 in the human skeletal muscle ryanodine receptor is associated with malignant hyperthermia. 7881417

1994
dbSNP: rs28933396
rs28933396
RYR1
0.030 GeneticVariation BEFREE This mutation is adjacent to a mutation (Arg2434 to His) previously linked to MH and central core disease (Y. Zhang et al., Nature Genet.1993, 5, 46-50). 7881417

1994
dbSNP: rs118192172
rs118192172
RYR1
0.090 GeneticVariation BEFREE The frequencies of occurrence of the C1840T and C487T mutations were 2% and 1%, respectively, in MH-positive subjects and were the only two mutations identified. 7547049

1995
dbSNP: rs118192161
rs118192161
RYR1
0.060 GeneticVariation BEFREE We report here that one of these, the Arg163Cys substitution, does not cosegregate with MH susceptibility. 8592342

1995
dbSNP: rs118192161
rs118192161
RYR1
0.060 GeneticVariation BEFREE The frequencies of occurrence of the C1840T and C487T mutations were 2% and 1%, respectively, in MH-positive subjects and were the only two mutations identified. 7547049

1995
dbSNP: rs121918592
rs121918592
RYR1
0.050 GeneticVariation BEFREE A simple method to detect the RYR1 mutation G1021A, a cause of malignant hyperthermia susceptibility. 7554356

1995
dbSNP: rs756042537
rs756042537
CACNA1C
0.010 GeneticVariation BEFREE We report here that one of these, the Arg163Cys substitution, does not cosegregate with MH susceptibility. 8592342

1995
dbSNP: rs118192172
rs118192172
RYR1
0.090 GeneticVariation BEFREE Because there is strong evidence supporting the causal nature of the Arg614Cys mutation, the discordant persons are not closely related within the pedigree as they would be if a second MH mutation were segregating, and the CHCT is not 100% accurate, we propose that the observed discordance between DNA test results and CHCT assignment in this kindred results from two false-positive diagnoses by the CHCT. 8602662

1996
dbSNP: rs121918592
rs121918592
RYR1
0.050 GeneticVariation BEFREE RYR mutation G1021A (Gly341Arg) is not frequent in Danish and Swedish families with malignant hyperthermia susceptibility. 8828983

1996
dbSNP: rs118192172
rs118192172
RYR1
0.090 GeneticVariation BEFREE These findings may suggest that it is necessary to reconsider the specificity of the IVCT and the role of C1840T as a cause of MH susceptibility in some families exhibiting this mutation. 9520251

1997
dbSNP: rs121918592
rs121918592
RYR1
0.050 GeneticVariation BEFREE In one large family, the G1021A mutation was found but did not show complete cosegregation with MH susceptibility: it occurred in only 7/12 MHS individuals in the kinship, and susceptibility was inherited from parents who were G1021 homozygotes, as well as from parents who were heterozygotes. 9106529

1997
dbSNP: rs118192177
rs118192177
RYR1
T 0.720 CausalMutation CLINVAR Identification of novel mutations in the ryanodine-receptor gene (RYR1) in malignant hyperthermia: genotype-phenotype correlation. 9497245

1998
dbSNP: rs118192161
rs118192161
RYR1
0.060 GeneticVariation BEFREE We also present evidence demonstrating that overexpression of wild-type RYR1 in cells obtained from MH-susceptible individuals does not restore the MH-negative phenotype, as far as Ca2+ transients elicited by halothane are concerned; on the other hand, overexpression of a mutated RYR1 Arg163Cys Ca2+ channel in muscle cells obtained from MH-negative individuals conveys hypersensitivity to halothane. 9502764

1998
dbSNP: rs121918592
rs121918592
RYR1
0.050 GeneticVariation BEFREE MH normal (165) and MH susceptible (114) North American patients were screened for the presence of the G1021A mutation. 9831351

1998
dbSNP: rs121918592
rs121918592
RYR1
0.050 GeneticVariation BEFREE Gly341Arg mutation indicating malignant hyperthermia susceptibility: specific cause of chronically elevated serum creatine kinase activity. 9543323

1998
dbSNP: rs118192177
rs118192177
RYR1
T 0.720 CausalMutation CLINVAR Screening of the ryanodine receptor gene in 105 malignant hyperthermia families: novel mutations and concordance with the in vitro contracture test. 10484775

1999
dbSNP: rs118192172
rs118192172
RYR1
0.090 GeneticVariation BEFREE Screening for these 21 mutations in 105 MH families including 10 CCD families phenotyped by the in vitro contracture test (IVCT) according to the European protocol revealed the following approximate distribution: 9% Arg-614-Cys, 1% Arg-614-Leu, 1% Arg-2163-Cys, 1% Val-2168-Met, 3% Thr-2206-Met and 7% Gly-2434-Arg. 10484775

1999
dbSNP: rs121918593
rs121918593
RYR1
0.070 GeneticVariation BEFREE Malignant hyperthermia causing Gly2435Arg mutation of the ryanodine receptor facilitates ryanodine-induced calcium release in myotubes. 10700782

1999