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: 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
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: 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: rs193922801
rs193922801 		1.000 0.040 19 38499650 missense variant A/G snv 1.4E-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: rs193922802
rs193922802 		0.925 0.040 19 38499655 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 1.000 20 1991 2015
dbSNP: rs193922808
rs193922808 		1.000 0.080 19 38499954 missense variant G/A;C;T snv 3.2E-05; 4.0E-06; 3.2E-05
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 20 1993 2017
dbSNP: rs193922809
rs193922809 		1.000 0.040 19 38499975 missense variant G/A snv 1.2E-05 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: rs193922812
rs193922812 		1.000 0.040 19 38500003 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 1.000 20 1991 2015
dbSNP: rs193922816
rs193922816 		1.000 0.040 19 38500642 missense variant C/T snv 1.6E-05 1.4E-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: rs193922818
rs193922818 		1.000 0.040 19 38500899 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 1.000 20 1991 2015
dbSNP: rs193922839
rs193922839 		0.925 0.120 19 38534775 missense variant G/A;C snv 1.6E-05; 4.0E-06
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 20 1993 2017