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: rs1057518773
rs1057518773 		19 38505868 stop gained G/A snv
CUI: C0026848
Disease: Myopathy
Myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1057518885
rs1057518885 		1.000 0.040 19 38561362 missense variant G/A snv 8.0E-06
CUI: C0024591
Disease: Malignant hyperpyrexia due to anesthesia
Malignant hyperpyrexia due to anesthesia 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs1057518940
rs1057518940 		0.925 0.040 19 38499718 missense variant G/A snv
CUI: C0332878
Disease: Congenital contracture
Congenital contracture 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1057518940
rs1057518940 		0.925 0.040 19 38499718 missense variant G/A snv
CUI: C1850794
Disease: Proximal amyotrophy
Proximal amyotrophy 		0.700 0
dbSNP: rs1057518940
rs1057518940 		0.925 0.040 19 38499718 missense variant G/A snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs1057518940
rs1057518940 		0.925 0.040 19 38499718 missense variant G/A snv
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		Mental Disorders 0.700 0
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
dbSNP: rs1057518970
rs1057518970 		1.000 0.120 19 38448398 missense variant C/T snv 8.0E-06 2.1E-05
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency 		Respiratory Tract Diseases 0.700 0
dbSNP: rs111364670
rs111364670 		1.000 0.080 19 38510566 splice donor variant G/A;T snv
CUI: C0546264
Disease: Congenital Fiber Type Disproportion
Congenital Fiber Type Disproportion 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs111436401
rs111436401 		0.851 0.160 19 38523116 splice donor variant G/A snv 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: rs111436401
rs111436401 		0.851 0.160 19 38523116 splice donor variant G/A snv 4.0E-06
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs111436401
rs111436401 		0.851 0.160 19 38523116 splice donor variant G/A snv 4.0E-06
CUI: C0546264
Disease: Congenital Fiber Type Disproportion
Congenital Fiber Type Disproportion 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs111436401
rs111436401 		0.851 0.160 19 38523116 splice donor variant G/A snv 4.0E-06
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 0.700 0
dbSNP: rs111565359
rs111565359 		1.000 0.040 19 38535197 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: rs111657878
rs111657878 		1.000 0.040 19 38585947 missense variant T/C snv
CUI: C2930980
Disease: Malignant hyperthermia susceptibility type 1
Malignant hyperthermia susceptibility type 1 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs111888148
rs111888148 		1.000 0.040 19 38455463 missense variant G/A;T snv 5.6E-05
CUI: C2930980
Disease: Malignant hyperthermia susceptibility type 1
Malignant hyperthermia susceptibility type 1 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs112151058
rs112151058 		1.000 0.040 19 38517541 missense variant G/A;C snv
CUI: C2930980
Disease: Malignant hyperthermia susceptibility type 1
Malignant hyperthermia susceptibility type 1 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs112196644
rs112196644 		1.000 0.040 19 38504869 missense variant A/G snv
CUI: C2930980
Disease: Malignant hyperthermia susceptibility type 1
Malignant hyperthermia susceptibility type 1 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs112563513
rs112563513 		1.000 0.040 19 38499223 missense variant G/A snv 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: 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: rs112772310
rs112772310 		1.000 0.040 19 38506492 missense variant G/A 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: rs113210953
rs113210953 		1.000 0.040 19 38580485 missense variant A/G snv
CUI: C2930980
Disease: Malignant hyperthermia susceptibility type 1
Malignant hyperthermia susceptibility type 1 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs113332073
rs113332073 		1.000 0.040 19 38448791 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: rs113460156
rs113460156 		19 38473772 splice donor variant G/A;C snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0