RYR1, ryanodine receptor 1, 6261

N. diseases: 320; N. variants: 248
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs978984063
rs978984063
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
CUI: C0751951
Disease:
Central Core Myopathy (disorder) 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs976108591
rs976108591
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
CUI: C2930980
Disease:
Malignant hyperthermia susceptibility type 1 		0.700 GeneticVariation UNIPROT
dbSNP: rs886039586
rs886039586
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
CUI: C0751951
Disease:
Central Core Myopathy (disorder) 		0.700 GeneticVariation UNIPROT
dbSNP: rs878854375
rs878854375
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
CUI: C0751951
Disease:
Central Core Myopathy (disorder) 		A 0.700 GeneticVariation CLINVAR Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases. 27854218 2016
dbSNP: rs876661306
rs876661306
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
CUI: C1850674
Disease:
MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA (disorder) 		C 0.700 CausalMutation CLINVAR
dbSNP: rs797045935
rs797045935
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
CUI: C0026848
Disease:
Myopathy 		A 0.700 CausalMutation CLINVAR
dbSNP: rs797045934
rs797045934
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
CUI: C0026848
Disease:
Myopathy 		A 0.700 CausalMutation CLINVAR
dbSNP: rs797045933
rs797045933
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
CUI: C0026848
Disease:
Myopathy 		ATCCTAT 0.700 GeneticVariation CLINVAR
dbSNP: rs797045932
rs797045932
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
CUI: C0026848
Disease:
Myopathy 		C 0.700 CausalMutation CLINVAR
dbSNP: rs797045931
rs797045931
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
CUI: C0026848
Disease:
Myopathy 		T 0.700 CausalMutation CLINVAR
dbSNP: rs774919231
rs774919231
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
CUI: C0026848
Disease:
Myopathy 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs774919231
rs774919231
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
CUI: C0699743
Disease:
Congenital muscular dystrophy (disorder) 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs774919231
rs774919231
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
CUI: C0035229
Disease:
Respiratory Insufficiency 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs772288551
rs772288551
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
CUI: C0024591
Disease:
Malignant hyperpyrexia due to anesthesia 		0.010 GeneticVariation BEFREE We propose that R2355W is confirmed as being an MH-causative mutation and suggest that V2354M is a RYR1 mutation likely to cause MH. 24361844 2014
dbSNP: rs771741606
rs771741606
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
CUI: C0751951
Disease:
Central Core Myopathy (disorder) 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs767928113
rs767928113
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
CUI: C0751951
Disease:
Central Core Myopathy (disorder) 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs767382534
rs767382534
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
CUI: C0026848
Disease:
Myopathy 		0.010 GeneticVariation BEFREE We report the identification of four <i>RYR1</i> variants in two Italian families: one with myopathy and variants c.4003C>T (p.R1335C) and c.7035C>A (p.S2345R), and another with CCD and variants c.9293G>T (p.S3098I) and c.14771_14772insTAGACAGGGTGTTGCTCTGTTGCCCTTCTT (p.F4924_V4925insRQGVALLPFF). 31165076 2019
dbSNP: rs767382534
rs767382534
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
CUI: C0751951
Disease:
Central Core Myopathy (disorder) 		0.010 GeneticVariation BEFREE We report the identification of four <i>RYR1</i> variants in two Italian families: one with myopathy and variants c.4003C>T (p.R1335C) and c.7035C>A (p.S2345R), and another with CCD and variants c.9293G>T (p.S3098I) and c.14771_14772insTAGACAGGGTGTTGCTCTGTTGCCCTTCTT (p.F4924_V4925insRQGVALLPFF). 31165076 2019
dbSNP: rs763944786
rs763944786
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
CUI: C1836609
Disease:
Progressive distal muscle weakness 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs763944786
rs763944786
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
CUI: C0427064
Disease:
Pelvic girdle weakness 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs763944786
rs763944786
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
CUI: C0036439
Disease:
Scoliosis, unspecified 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs763944786
rs763944786
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
CUI: C0221629
Disease:
Proximal muscle weakness 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs763944786
rs763944786
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
CUI: C1837658
Disease:
Gross motor development delay 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs763259167
rs763259167
Entrez Id: 6261;107985290
Gene Symbol: RYR1;LOC107985290
RYR1;LOC107985290
CUI: C2930980
Disease:
Malignant hyperthermia susceptibility type 1 		0.700 GeneticVariation UNIPROT Identification and functional characterization of a novel ryanodine receptor mutation causing malignant hyperthermia in North American and South American families. 11525881 2001
dbSNP: rs763259167
rs763259167
Entrez Id: 6261;107985290
Gene Symbol: RYR1;LOC107985290
RYR1;LOC107985290
CUI: C2930980
Disease:
Malignant hyperthermia susceptibility type 1 		0.700 GeneticVariation UNIPROT Ryanodine receptor gene point mutation and malignant hyperthermia susceptibility. 7751854 1995