CALM2, calmodulin 2, 805

N. diseases: 252; N. variants: 12
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: rs398124647
rs398124647 		0.807 0.120 2 47161851 missense variant T/A;C snv
CUI: C4015695
Disease: LONG QT SYNDROME 15
LONG QT SYNDROME 15 		0.800 1.000 6 2013 2016
dbSNP: rs398124648
rs398124648 		0.925 0.080 2 47161748 missense variant A/C snv
CUI: C4015695
Disease: LONG QT SYNDROME 15
LONG QT SYNDROME 15 		0.800 1.000 6 2013 2016
dbSNP: rs398124649
rs398124649 		0.925 0.080 2 47161737 missense variant T/G snv
CUI: C4015695
Disease: LONG QT SYNDROME 15
LONG QT SYNDROME 15 		0.800 1.000 6 2013 2016
dbSNP: rs398124650
rs398124650 		0.882 0.120 2 47161744 missense variant C/G;T snv
CUI: C4015695
Disease: LONG QT SYNDROME 15
LONG QT SYNDROME 15 		0.800 1.000 6 2013 2016
dbSNP: rs398124647
rs398124647 		0.807 0.120 2 47161851 missense variant T/A;C snv
CUI: C3554047
Disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4 		0.700 1.000 4 2012 2016
dbSNP: rs815815
rs815815 		1.000 0.080 2 47171925 non coding transcript exon variant C/A;T snv
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2011 2011
dbSNP: rs11551462
rs11551462 		0.925 0.120 2 47160802 missense variant A/G snv
CUI: C4015671
Disease: LONG QT SYNDROME 14
LONG QT SYNDROME 14 		0.700 0
dbSNP: rs1553431702
rs1553431702 		1.000 2 47161730 missense variant G/C snv
CUI: C4015695
Disease: LONG QT SYNDROME 15
LONG QT SYNDROME 15 		0.700 0
dbSNP: rs1553431711
rs1553431711 		1.000 0.120 2 47161816 missense variant T/A snv
CUI: C0035828
Disease: Romano-Ward Syndrome
Romano-Ward Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs1558693760
rs1558693760 		1.000 0.120 2 47160792 missense variant A/C snv
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs730882254
rs730882254 		1.000 2 47161857 missense variant T/A snv
CUI: C4015695
Disease: LONG QT SYNDROME 15
LONG QT SYNDROME 15 		0.700 0
dbSNP: rs11551437
rs11551437 		1.000 0.080 2 47161833 missense variant G/A snv
CUI: C0151636
Disease: Premature ventricular contractions
Premature ventricular contractions 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2016 2016
dbSNP: rs11551437
rs11551437 		1.000 0.080 2 47161833 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 0.010 1.000 1 2016 2016
dbSNP: rs11551437
rs11551437 		1.000 0.080 2 47161833 missense variant G/A snv
CUI: C0039070
Disease: Syncope
Syncope 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs11551462
rs11551462 		0.925 0.120 2 47160802 missense variant A/G snv
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2017 2017
dbSNP: rs398124647
rs398124647 		0.807 0.120 2 47161851 missense variant T/A;C snv
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2017 2017
dbSNP: rs398124647
rs398124647 		0.807 0.120 2 47161851 missense variant T/A;C snv
CUI: C1141890
Disease: Congenital long QT syndrome
Congenital long QT syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs398124647
rs398124647 		0.807 0.120 2 47161851 missense variant T/A;C snv
CUI: C0018790
Disease: Cardiac Arrest
Cardiac Arrest 		Cardiovascular Diseases 0.010 1.000 1 2016 2016
dbSNP: rs398124647
rs398124647 		0.807 0.120 2 47161851 missense variant T/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 0.010 1.000 1 2014 2014
dbSNP: rs398124648
rs398124648 		0.925 0.080 2 47161748 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 0.010 1.000 1 2014 2014
dbSNP: rs398124649
rs398124649 		0.925 0.080 2 47161737 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 0.010 1.000 1 2014 2014
dbSNP: rs398124650
rs398124650 		0.882 0.120 2 47161744 missense variant C/G;T snv
CUI: C1141890
Disease: Congenital long QT syndrome
Congenital long QT syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs398124650
rs398124650 		0.882 0.120 2 47161744 missense variant C/G;T snv
CUI: C1631597
Disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder) 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs752149020
rs752149020 		0.925 0.040 2 47176459 missense variant G/A;C snv 4.0E-06
CUI: C0029410
Disease: Osteoarthritis of hip
Osteoarthritis of hip 		Musculoskeletal Diseases 0.010 < 0.001 1 2008 2008
dbSNP: rs752149020
rs752149020 		0.925 0.040 2 47176459 missense variant G/A;C snv 4.0E-06
CUI: C0263746
Disease: Osteoarthritis of the hand
Osteoarthritis of the hand 		Musculoskeletal Diseases 0.010 < 0.001 1 2008 2008