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: rs118192138
rs118192138 		1.000 0.080 19 38572221 missense variant T/C snv
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		Musculoskeletal Diseases; Nervous System Diseases 0.800 0
dbSNP: rs118192141
rs118192141 		1.000 0.080 19 38575959 missense variant A/C snv 7.0E-06
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		Musculoskeletal Diseases; Nervous System Diseases 0.800 0
dbSNP: rs118192149
rs118192149 		1.000 0.080 19 38584967 missense variant G/C snv
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		Musculoskeletal Diseases; Nervous System Diseases 0.800 0
dbSNP: rs118192177
rs118192177 		0.851 0.160 19 38496283 missense variant C/G;T snv 2.0E-05
CUI: C2930980
Disease: Malignant hyperthermia susceptibility type 1
Malignant hyperthermia susceptibility type 1 		Pathological Conditions, Signs and Symptoms 0.800 0
dbSNP: rs118192178
rs118192178 		0.882 0.120 19 38500898 missense variant C/G;T snv
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		Musculoskeletal Diseases; Nervous System Diseases 0.800 0
dbSNP: rs118192184
rs118192184 		1.000 0.080 19 38585036 missense variant A/G snv
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		Musculoskeletal Diseases; Nervous System Diseases 0.800 0
dbSNP: rs118192170
rs118192170 		0.882 0.120 19 38584989 missense variant T/A;C snv
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		Musculoskeletal Diseases; Nervous System Diseases 0.760 1.000 0 2001 2011
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: rs118192167
rs118192167 		0.925 0.120 19 38580004 missense variant A/G snv
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		Musculoskeletal Diseases; Nervous System Diseases 0.720 1.000 0 2003 2004
dbSNP: rs118192172
rs118192172 		0.851 0.120 19 38457545 missense variant C/G;T snv 8.7E-05 1.1E-04
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		Musculoskeletal Diseases; Nervous System Diseases 0.720 1.000 0 1995 1999
dbSNP: rs118192116
rs118192116 		0.925 0.120 19 38451850 missense variant C/G;T snv 4.0E-06
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		Musculoskeletal Diseases; Nervous System Diseases 0.710 1.000 0 1995 1995
dbSNP: rs118192123
rs118192123 		0.925 0.120 19 38500640 missense variant T/C snv
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		Musculoskeletal Diseases; Nervous System Diseases 0.710 1.000 0 2003 2003
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