Source: UNIPROT

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28933396
rs28933396
RYR1
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		0.740 GeneticVariation UNIPROT Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population. 27234031

2017
dbSNP: rs28933396
rs28933396
RYR1
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		0.740 GeneticVariation UNIPROT Genotype-Phenotype Correlations of Malignant Hyperthermia and Central Core Disease Mutations in the Central Region of the RYR1 Channel. 27586648

2016
dbSNP: rs28933396
rs28933396
RYR1
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		0.740 GeneticVariation UNIPROT Several Ryanodine Receptor Type 1 Gene Mutations of p.Arg2508 Are Potential Sources of Malignant Hyperthermia. 26381711

2015
dbSNP: rs28933396
rs28933396
RYR1
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		0.740 GeneticVariation UNIPROT Novel RYR1 missense mutations in six Chinese patients with central core disease. 24561095

2014
dbSNP: rs28933396
rs28933396
RYR1
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		0.740 GeneticVariation UNIPROT Ryanodine receptor type 1 gene variants in the malignant hyperthermia-susceptible population of the United States. 23558838

2013
dbSNP: rs28933396
rs28933396
RYR1
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		0.740 GeneticVariation UNIPROT Dominant and recessive RYR1 mutations in adults with core lesions and mild muscle symptoms. 21674524

2011
dbSNP: rs28933396
rs28933396
RYR1
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		0.740 GeneticVariation UNIPROT Functional properties of RYR1 mutations identified in Swedish patients with malignant hyperthermia and central core disease. 20142353

2010
dbSNP: rs28933396
rs28933396
RYR1
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		0.740 GeneticVariation UNIPROT Novel RYR1 missense mutation causes core rod myopathy. 18312400

2008
dbSNP: rs28933396
rs28933396
RYR1
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		0.740 GeneticVariation UNIPROT Inheritance of a novel RYR1 mutation in a family with myotonic dystrophy type 1. 17204054

2007
dbSNP: rs28933396
rs28933396
RYR1
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		0.740 GeneticVariation UNIPROT Dominant and recessive central core disease associated with RYR1 mutations and fetal akinesia. 12937085

2003
dbSNP: rs28933396
rs28933396
RYR1
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		0.740 GeneticVariation UNIPROT Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene. 12565913

2003
dbSNP: rs28933396
rs28933396
RYR1
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		0.740 GeneticVariation UNIPROT A recessive form of central core disease, transiently presenting as multi-minicore disease, is associated with a homozygous mutation in the ryanodine receptor type 1 gene. 12112081

2002
dbSNP: rs28933396
rs28933396
RYR1
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		0.740 GeneticVariation UNIPROT Autosomal recessive inheritance of RYR1 mutations in a congenital myopathy with cores. 12136074

2002
dbSNP: rs28933396
rs28933396
RYR1
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		0.740 GeneticVariation UNIPROT Familial and sporadic forms of central core disease are associated with mutations in the C-terminal domain of the skeletal muscle ryanodine receptor. 11709545

2001
dbSNP: rs28933396
rs28933396
RYR1
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		0.740 GeneticVariation UNIPROT A novel ryanodine receptor gene mutation causing both cores and rods in congenital myopathy. 11113224

2000
dbSNP: rs28933396
rs28933396
RYR1
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		0.740 GeneticVariation UNIPROT A mutation in the transmembrane/luminal domain of the ryanodine receptor is associated with abnormal Ca2+ release channel function and severe central core disease. 10097181

1999
dbSNP: rs28933396
rs28933396
RYR1
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		0.740 GeneticVariation UNIPROT Identification of novel mutations in the ryanodine-receptor gene (RYR1) in malignant hyperthermia: genotype-phenotype correlation. 9497245

1998
dbSNP: rs28933396
rs28933396
RYR1
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		0.740 GeneticVariation UNIPROT Mutation screening of the RYR1 gene in malignant hyperthermia: detection of a novel Tyr to Ser mutation in a pedigree with associated central cores. 7829078

1994
dbSNP: rs28933396
rs28933396
RYR1
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		0.740 GeneticVariation UNIPROT Mutations in the ryanodine receptor gene in central core disease and malignant hyperthermia. 8220423

1993
dbSNP: rs28933396
rs28933396
RYR1
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		0.740 GeneticVariation UNIPROT A mutation in the human ryanodine receptor gene associated with central core disease. 8220422

1993