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: rs10500279
rs10500279
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
CUI: C0149721
Disease:
Left Ventricular Hypertrophy 		0.700 GeneticVariation GWASDB Common variants in RYR1 are associated with left ventricular hypertrophy assessed by electrocardiogram. 21828061 2012
dbSNP: rs1057518773
rs1057518773
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
CUI: C0026848
Disease:
Myopathy 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1057518885
rs1057518885
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
CUI: C0024591
Disease:
Malignant hyperpyrexia due to anesthesia 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1057518940
rs1057518940
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
CUI: C1837658
Disease:
Gross motor development delay 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1057518940
rs1057518940
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
CUI: C0349588
Disease:
Short stature 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1057518940
rs1057518940
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
CUI: C0332878
Disease:
Congenital contracture 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1057518940
rs1057518940
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
CUI: C1850794
Disease:
Proximal amyotrophy 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1057518970
rs1057518970
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
CUI: C0026848
Disease:
Myopathy 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1057518970
rs1057518970
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
CUI: C0035229
Disease:
Respiratory Insufficiency 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1057518970
rs1057518970
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
CUI: C0699743
Disease:
Congenital muscular dystrophy (disorder) 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs111272095
rs111272095
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
CUI: C2930980
Disease:
Malignant hyperthermia susceptibility type 1 		0.700 GeneticVariation UNIPROT Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 27854360 2017
dbSNP: rs111272095
rs111272095
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
CUI: C2930980
Disease:
Malignant hyperthermia susceptibility type 1 		0.700 GeneticVariation UNIPROT ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249 2013
dbSNP: rs111272095
rs111272095
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
CUI: C2930980
Disease:
Malignant hyperthermia susceptibility type 1 		0.700 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965 2015
dbSNP: rs111272095
rs111272095
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
CUI: C2930980
Disease:
Malignant hyperthermia susceptibility type 1 		0.700 GeneticVariation UNIPROT Malignant hyperthermia genetic testing in North America Working Group Meeting. Bethesda, Maryland. September 4-5, 2002. 14870754 2004
dbSNP: rs111364296
rs111364296
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
CUI: C2930980
Disease:
Malignant hyperthermia susceptibility type 1 		0.700 GeneticVariation UNIPROT Malignant hyperthermia genetic testing in North America Working Group Meeting. Bethesda, Maryland. September 4-5, 2002. 14870754 2004
dbSNP: rs111364296
rs111364296
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
CUI: C2930980
Disease:
Malignant hyperthermia susceptibility type 1 		0.700 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965 2015
dbSNP: rs111364296
rs111364296
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
CUI: C2930980
Disease:
Malignant hyperthermia susceptibility type 1 		0.700 GeneticVariation UNIPROT ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249 2013
dbSNP: rs111364296
rs111364296
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
CUI: C2930980
Disease:
Malignant hyperthermia susceptibility type 1 		0.700 GeneticVariation UNIPROT Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 27854360 2017
dbSNP: rs111364670
rs111364670
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
CUI: C0546264
Disease:
Congenital Fiber Type Disproportion 		T 0.700 CausalMutation CLINVAR
dbSNP: rs111436401
rs111436401
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
CUI: C0751951
Disease:
Central Core Myopathy (disorder) 		A 0.700 CausalMutation CLINVAR
dbSNP: rs111436401
rs111436401
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
CUI: C2930980
Disease:
Malignant hyperthermia susceptibility type 1 		A 0.700 CausalMutation CLINVAR
dbSNP: rs111436401
rs111436401
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
CUI: C0546264
Disease:
Congenital Fiber Type Disproportion 		A 0.700 CausalMutation CLINVAR
dbSNP: rs111436401
rs111436401
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
CUI: C1850674
Disease:
MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA (disorder) 		A 0.700 CausalMutation CLINVAR
dbSNP: rs111565359
rs111565359
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
CUI: C2930980
Disease:
Malignant hyperthermia susceptibility type 1 		0.700 GeneticVariation UNIPROT
dbSNP: rs111657878
rs111657878
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
CUI: C2930980
Disease:
Malignant hyperthermia susceptibility type 1 		0.700 GeneticVariation UNIPROT