RYR2, ryanodine receptor 2, 6262

N. diseases: 160; N. variants: 116
Disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder) ×
Source: ALL
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: rs190140598
rs190140598 		0.851 0.120 1 237445488 missense variant C/A;T snv 1.2E-05
CUI: C1631597
Disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder) 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.800 1.000 22 2002 2017
dbSNP: rs794728753
rs794728753 		1.000 0.080 1 237640940 missense variant G/A;C snv
CUI: C1631597
Disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder) 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.800 1.000 22 2001 2017
dbSNP: rs121918597
rs121918597 		0.925 0.080 1 237634937 missense variant C/T snv
CUI: C1631597
Disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder) 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.820 1.000 21 2001 2017
dbSNP: rs121918598
rs121918598 		0.851 0.080 1 237648523 missense variant G/A;C snv
CUI: C1631597
Disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder) 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.720 1.000 21 2001 2019
dbSNP: rs121918602
rs121918602 		0.925 0.120 1 237454396 missense variant T/C snv
CUI: C1631597
Disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder) 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.800 1.000 21 2001 2016
dbSNP: rs121918603
rs121918603 		0.882 0.080 1 237639068 missense variant C/T snv
CUI: C1631597
Disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder) 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.820 1.000 21 2001 2019
dbSNP: rs121918606
rs121918606 		0.925 0.080 1 237819181 missense variant C/G snv
CUI: C1631597
Disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder) 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.720 1.000 21 2001 2017
dbSNP: rs121918599
rs121918599 		0.925 0.080 1 237784024 missense variant C/G snv
CUI: C1631597
Disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder) 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.710 1.000 20 2001 2017
dbSNP: rs121918604
rs121918604 		0.882 0.080 1 237798037 missense variant G/A;T snv 1.7E-05
CUI: C1631597
Disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder) 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.810 1.000 20 2001 2018
dbSNP: rs121918600
rs121918600 		0.882 0.080 1 237791441 missense variant C/T snv
CUI: C1631597
Disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder) 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.850 1.000 19 2001 2017
dbSNP: rs121918605
rs121918605 		0.925 0.080 1 237784314 missense variant A/G snv
CUI: C1631597
Disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder) 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.800 1.000 19 2001 2017
dbSNP: rs794728708
rs794728708 		0.827 0.120 1 237377386 missense variant G/A;T snv
CUI: C1631597
Disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder) 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.830 1.000 19 2001 2018
dbSNP: rs764772142
rs764772142 		0.925 0.080 1 237377349 missense variant C/A;T snv 8.0E-06
CUI: C1631597
Disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder) 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.710 1.000 15 2001 2019
dbSNP: rs1185619003
rs1185619003 		1.000 0.080 1 237830557 missense variant A/G snv
CUI: C1631597
Disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder) 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.700 1.000 14 2001 2016
dbSNP: rs1202962809
rs1202962809 		1.000 0.080 1 237784184 missense variant A/C snv
CUI: C1631597
Disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder) 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.700 1.000 14 2001 2016
dbSNP: rs1218096653
rs1218096653 		1.000 0.080 1 237828391 missense variant T/G snv
CUI: C1631597
Disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder) 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.700 1.000 14 2001 2016
dbSNP: rs121918601
rs121918601 		0.925 0.120 1 237640938 missense variant A/T snv
CUI: C1631597
Disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder) 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.700 1.000 14 2001 2016
dbSNP: rs1349176732
rs1349176732 		1.000 0.080 1 237445485 missense variant A/T snv
CUI: C1631597
Disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder) 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.700 1.000 14 2001 2016
dbSNP: rs1349585791
rs1349585791 		1.000 0.080 1 237784148 missense variant G/A snv
CUI: C1631597
Disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder) 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.700 1.000 14 2001 2016
dbSNP: rs1359163728
rs1359163728 		1.000 0.080 1 237793903 missense variant G/C snv
CUI: C1631597
Disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder) 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.700 1.000 14 2001 2016
dbSNP: rs1456929288
rs1456929288 		1.000 0.080 1 237640988 missense variant G/A snv
CUI: C1631597
Disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder) 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.700 1.000 14 2001 2016
dbSNP: rs1457271141
rs1457271141 		1.000 0.080 1 237791448 missense variant T/G snv
CUI: C1631597
Disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder) 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.700 1.000 14 2001 2016
dbSNP: rs371121679
rs371121679 		1.000 0.080 1 237445471 missense variant G/A;T snv 8.0E-06
CUI: C1631597
Disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder) 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.700 1.000 14 2001 2016
dbSNP: rs397516510
rs397516510 		1.000 0.080 1 237791480 missense variant G/A;C;T snv
CUI: C1631597
Disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder) 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.800 1.000 14 2001 2016
dbSNP: rs769219555
rs769219555 		0.925 0.120 1 237648612 missense variant C/T snv 4.2E-05 8.4E-05
CUI: C1631597
Disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder) 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.700 1.000 14 2001 2016