CALM1, calmodulin 1, 801

N. diseases: 253; N. variants: 10
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: rs267607276
rs267607276 		0.925 0.080 14 90401385 missense variant A/G;T snv
CUI: C3554047
Disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4 		0.800 1.000 4 2012 2016
dbSNP: rs267607277
rs267607277 		0.807 0.120 14 90404386 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 0.710 1.000 1 2012 2012
dbSNP: rs267607277
rs267607277 		0.807 0.120 14 90404386 missense variant A/G snv
CUI: C4015671
Disease: LONG QT SYNDROME 14
LONG QT SYNDROME 14 		0.700 1.000 5 2012 2015
dbSNP: rs267607277
rs267607277 		0.807 0.120 14 90404386 missense variant A/G snv
CUI: C3554047
Disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4 		0.700 1.000 5 2012 2015
dbSNP: rs1555366045
rs1555366045 		0.925 14 90404491 missense variant G/A snv
CUI: C3554047
Disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4 		0.700 0
dbSNP: rs1555366045
rs1555366045 		0.925 14 90404491 missense variant G/A snv
CUI: C4015671
Disease: LONG QT SYNDROME 14
LONG QT SYNDROME 14 		0.700 0
dbSNP: rs199744595
rs199744595 		0.925 0.120 14 90404693 missense variant C/G;T snv 2.4E-05
CUI: C4015671
Disease: LONG QT SYNDROME 14
LONG QT SYNDROME 14 		0.700 0
dbSNP: rs267607276
rs267607276 		0.925 0.080 14 90401385 missense variant A/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 0.700 0
dbSNP: rs730882252
rs730882252 		0.882 0.120 14 90404482 missense variant A/G snv
CUI: C4015671
Disease: LONG QT SYNDROME 14
LONG QT SYNDROME 14 		0.700 0
dbSNP: rs730882252
rs730882252 		0.882 0.120 14 90404482 missense variant A/G snv
CUI: C4015695
Disease: LONG QT SYNDROME 15
LONG QT SYNDROME 15 		0.700 0
dbSNP: rs730882253
rs730882253 		1.000 14 90403951 missense variant T/C snv
CUI: C4015671
Disease: LONG QT SYNDROME 14
LONG QT SYNDROME 14 		0.700 0
dbSNP: rs12885713
rs12885713 		0.827 0.200 14 90397013 intron variant C/A;G;T snv
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		Musculoskeletal Diseases 0.030 0.333 3 2008 2018
dbSNP: rs1085307479
rs1085307479 		1.000 0.120 14 90404691 missense variant T/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: rs12885713
rs12885713 		0.827 0.200 14 90397013 intron variant C/A;G;T snv
CUI: C0029410
Disease: Osteoarthritis of hip
Osteoarthritis of hip 		Musculoskeletal Diseases 0.010 < 0.001 1 2008 2008
dbSNP: rs12885713
rs12885713 		0.827 0.200 14 90397013 intron variant C/A;G;T snv
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		Musculoskeletal Diseases 0.010 1.000 1 2009 2009
dbSNP: rs12885713
rs12885713 		0.827 0.200 14 90397013 intron variant C/A;G;T snv
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs12885713
rs12885713 		0.827 0.200 14 90397013 intron variant C/A;G;T snv
CUI: C0263746
Disease: Osteoarthritis of the hand
Osteoarthritis of the hand 		Musculoskeletal Diseases 0.010 < 0.001 1 2008 2008
dbSNP: rs199744595
rs199744595 		0.925 0.120 14 90404693 missense variant C/G;T snv 2.4E-05
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: rs267607277
rs267607277 		0.807 0.120 14 90404386 missense variant A/G snv
CUI: C0018790
Disease: Cardiac Arrest
Cardiac Arrest 		Cardiovascular Diseases 0.010 1.000 1 2016 2016
dbSNP: rs267607277
rs267607277 		0.807 0.120 14 90404386 missense variant A/G 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: rs267607277
rs267607277 		0.807 0.120 14 90404386 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: rs3179089
rs3179089 		1.000 0.080 14 90407068 3 prime UTR variant C/G snv 0.39
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs5871
rs5871 		0.925 0.200 14 90405134 3 prime UTR variant T/C snv 0.12
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		Musculoskeletal Diseases 0.010 1.000 1 2009 2009
dbSNP: rs5871
rs5871 		0.925 0.200 14 90405134 3 prime UTR variant T/C snv 0.12
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs730882252
rs730882252 		0.882 0.120 14 90404482 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