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: rs376612295
rs376612295 		1.000 0.080 1 237454494 missense variant C/G snv 1.0E-04 7.0E-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 0
dbSNP: rs79457258
rs79457258 		1.000 0.080 1 237550629 missense variant G/A;C snv 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 0.010 1.000 1 2009 2009
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
dbSNP: rs189345192
rs189345192 		1.000 0.080 1 237792207 missense variant G/A;C;T snv 3.6E-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 0
dbSNP: rs759830423
rs759830423 		1.000 0.080 1 237445447 missense variant C/T snv 2.0E-05 2.1E-05
CUI: C1631597
Disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder) 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2012 2012
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: rs753733164
rs753733164 		1.000 0.080 1 237784887 missense variant A/G snv 1.6E-05 2.8E-05
CUI: C1631597
Disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder) 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2015 2015
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: 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: 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: rs730880191
rs730880191 		1.000 0.080 1 237566623 missense variant G/A snv 8.0E-06; 4.0E-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 0
dbSNP: rs1239093704
rs1239093704 		1.000 0.080 1 237759849 missense variant G/T snv 4.0E-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 0
dbSNP: rs730880196
rs730880196 		1.000 0.080 1 237784037 missense variant A/C;G snv 4.0E-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 0
dbSNP: rs772220753
rs772220753 		1.000 0.080 1 237640956 missense variant A/G snv 4.0E-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 0
dbSNP: rs1060500142
rs1060500142 		1.000 0.080 1 237330939 missense variant C/T snv 4.0E-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 3 2005 2012
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: 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