RYR1, ryanodine receptor 1, 6261

N. diseases: 29; N. variants: 225
Source: CURATED ×
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs193922744
rs193922744 		1.000 0.040 19 38433867 missense variant T/G snv
CUI: C2930980
Disease: Malignant hyperthermia susceptibility type 1
Malignant hyperthermia susceptibility type 1 		Pathological Conditions, Signs and Symptoms 0.700 1.000 20 1991 2015
dbSNP: rs71356805
rs71356805 		19 38434439 intron variant G/C snv 1.8E-02
CUI: C0200641
Disease: Blood basophil count (lab test)
Blood basophil count (lab test) 		0.700 1.000 1 2016 2016
dbSNP: rs193922747
rs193922747 		1.000 0.040 19 38440802 missense variant T/C snv 4.2E-06 7.0E-06
CUI: C2930980
Disease: Malignant hyperthermia susceptibility type 1
Malignant hyperthermia susceptibility type 1 		Pathological Conditions, Signs and Symptoms 0.700 1.000 20 1991 2015
dbSNP: rs193922748
rs193922748 		0.925 0.120 19 38440829 missense variant C/T snv 4.1E-06
CUI: C2930980
Disease: Malignant hyperthermia susceptibility type 1
Malignant hyperthermia susceptibility type 1 		Pathological Conditions, Signs and Symptoms 0.700 1.000 20 1991 2015
dbSNP: rs193922748
rs193922748 		0.925 0.120 19 38440829 missense variant C/T snv 4.1E-06
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 20 1993 2017
dbSNP: rs139161723
rs139161723 		1.000 19 38440830 missense variant G/A snv 1.2E-05 7.0E-06
CUI: C4016368
Disease: CENTRAL CORE DISEASE, AUTOSOMAL RECESSIVE
CENTRAL CORE DISEASE, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs118192160
rs118192160 		1.000 0.080 19 38442361 missense variant G/A snv 4.0E-06 7.0E-06
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1555762532
rs1555762532 		19 38442362 missense variant A/G snv
CUI: C0035410
Disease: Rhabdomyolysis
Rhabdomyolysis 		Musculoskeletal Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1456276440
rs1456276440 		1.000 0.080 19 38442391 stop gained C/T snv 4.0E-06
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs118192173
rs118192173 		1.000 0.160 19 38443612 missense variant C/T snv 8.0E-05 5.6E-05
CUI: C1850674
Disease: MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA (disorder)
MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA (disorder) 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 1 2012 2012
dbSNP: rs193922752
rs193922752 		1.000 0.080 19 38444203 missense variant A/C;G snv
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs118192161
rs118192161 		0.882 0.120 19 38444211 missense variant C/T snv
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		Musculoskeletal Diseases; Nervous System Diseases 0.730 1.000 0 2001 2011
dbSNP: rs118192161
rs118192161 		0.882 0.120 19 38444211 missense variant C/T snv
CUI: C2930980
Disease: Malignant hyperthermia susceptibility type 1
Malignant hyperthermia susceptibility type 1 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs193922753
rs193922753 		1.000 0.040 19 38444212 missense variant G/A;T snv 8.0E-06
CUI: C2930980
Disease: Malignant hyperthermia susceptibility type 1
Malignant hyperthermia susceptibility type 1 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs193922754
rs193922754 		1.000 0.040 19 38444217 missense variant G/A;T snv
CUI: C2930980
Disease: Malignant hyperthermia susceptibility type 1
Malignant hyperthermia susceptibility type 1 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs193922755
rs193922755 		1.000 0.040 19 38444220 missense variant G/A snv
CUI: C2930980
Disease: Malignant hyperthermia susceptibility type 1
Malignant hyperthermia susceptibility type 1 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs193922757
rs193922757 		1.000 0.040 19 38444253 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C2930980
Disease: Malignant hyperthermia susceptibility type 1
Malignant hyperthermia susceptibility type 1 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs118192115
rs118192115 		1.000 0.080 19 38446484 missense variant G/A snv
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 2 2012 2012
dbSNP: rs112596687
rs112596687 		1.000 0.040 19 38446517 missense variant T/A;C;G snv 4.0E-06; 4.0E-06
CUI: C2930980
Disease: Malignant hyperthermia susceptibility type 1
Malignant hyperthermia susceptibility type 1 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs193922760
rs193922760 		1.000 0.040 19 38446520 missense variant A/T snv
CUI: C2930980
Disease: Malignant hyperthermia susceptibility type 1
Malignant hyperthermia susceptibility type 1 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs367543054
rs367543054 		1.000 0.080 19 38446706 stop gained T/G snv
CUI: C0546264
Disease: Congenital Fiber Type Disproportion
Congenital Fiber Type Disproportion 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1801086
rs1801086 		0.925 0.040 19 38446710 missense variant G/A;C;T snv 1.2E-05; 8.0E-06
CUI: C2930980
Disease: Malignant hyperthermia susceptibility type 1
Malignant hyperthermia susceptibility type 1 		Pathological Conditions, Signs and Symptoms 0.700 1.000 4 2004 2017
dbSNP: rs1278804520
rs1278804520 		1.000 0.080 19 38448392 stop gained C/T snv 4.0E-06 7.0E-06
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 3 2006 2013
dbSNP: rs1057518970
rs1057518970 		1.000 0.120 19 38448398 missense variant C/T snv 8.0E-06 2.1E-05
CUI: C0699743
Disease: Congenital muscular dystrophy (disorder)
Congenital muscular dystrophy (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1057518970
rs1057518970 		1.000 0.120 19 38448398 missense variant C/T snv 8.0E-06 2.1E-05
CUI: C0026848
Disease: Myopathy
Myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0