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: 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: rs28933396
rs28933396 		0.882 0.120 19 38499997 missense variant G/A;T snv
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		Musculoskeletal Diseases; Nervous System Diseases 0.740 1.000 20 1993 2017
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: rs118192177
rs118192177 		0.851 0.160 19 38496283 missense variant C/G;T snv 2.0E-05
CUI: C0024591
Disease: Malignant hyperpyrexia due to anesthesia
Malignant hyperpyrexia due to anesthesia 		Pathological Conditions, Signs and Symptoms 0.720 1.000 8 1998 2015
dbSNP: rs118192162
rs118192162 		0.851 0.120 19 38455359 missense variant A/C;G snv
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		Musculoskeletal Diseases; Nervous System Diseases 0.720 1.000 2 2003 2012
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: rs63749869
rs63749869 		0.925 0.120 19 38580440 missense variant G/A snv
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		Musculoskeletal Diseases; Nervous System Diseases 0.710 1.000 2 2012 2018
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: rs121918595
rs121918595 		0.925 0.040 19 38580094 missense variant C/T snv 4.0E-06
CUI: C2930980
Disease: Malignant hyperthermia susceptibility type 1
Malignant hyperthermia susceptibility type 1 		Pathological Conditions, Signs and Symptoms 0.700 1.000 24 1991 2017
dbSNP: rs146306934
rs146306934 		1.000 0.040 19 38499706 missense variant G/A;T snv 5.0E-05
CUI: C2930980
Disease: Malignant hyperthermia susceptibility type 1
Malignant hyperthermia susceptibility type 1 		Pathological Conditions, Signs and Symptoms 0.700 1.000 24 1991 2017
dbSNP: rs146429605
rs146429605 		1.000 0.040 19 38483293 missense variant A/G snv 9.0E-04 1.1E-03
CUI: C2930980
Disease: Malignant hyperthermia susceptibility type 1
Malignant hyperthermia susceptibility type 1 		Pathological Conditions, Signs and Symptoms 0.700 1.000 24 1991 2017
dbSNP: rs193922810
rs193922810 		1.000 0.040 19 38499984 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 1.000 24 1991 2017
dbSNP: rs121918592
rs121918592 		0.882 0.080 19 38448712 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 1.000 20 1991 2015
dbSNP: rs121918593
rs121918593 		0.925 0.040 19 38499993 missense variant G/A snv 3.2E-05 5.6E-05
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: rs121918594
rs121918594 		0.925 0.040 19 38500655 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 1.000 20 1991 2015
dbSNP: rs137932199
rs137932199 		1.000 0.080 19 38519292 missense variant G/A;T snv 8.8E-04; 1.0E-04
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 20 1993 2017
dbSNP: rs137933390
rs137933390 		0.882 0.080 19 38475335 missense variant A/G snv 2.7E-03 2.8E-03
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: rs140152019
rs140152019 		1.000 0.040 19 38496488 missense variant G/A snv 4.0E-06 2.1E-05
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: rs141646642
rs141646642 		1.000 0.080 19 38496278 missense variant C/G;T snv 4.1E-04
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 20 1993 2017
dbSNP: rs144336148
rs144336148 		1.000 0.040 19 38455472 missense variant G/A snv 1.1E-04 2.8E-04
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: rs145573319
rs145573319 		1.000 0.040 19 38477816 missense variant A/G snv 7.1E-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