CALM1, calmodulin 1, 801

N. diseases: 253; N. variants: 10
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267607277
rs267607277
Entrez Id: 801
Gene Symbol: CALM1
CALM1
CUI: C1631597
Disease:
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder) 		G 0.710 GeneticVariation CLINVAR
dbSNP: rs1555366045
rs1555366045
Entrez Id: 801
Gene Symbol: CALM1
CALM1
CUI: C3554047
Disease:
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1555366045
rs1555366045
Entrez Id: 801
Gene Symbol: CALM1
CALM1
CUI: C4015671
Disease:
LONG QT SYNDROME 14 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs199744595
rs199744595
Entrez Id: 801
Gene Symbol: CALM1
CALM1
CUI: C4015671
Disease:
LONG QT SYNDROME 14 		G 0.700 CausalMutation CLINVAR
dbSNP: rs267607276
rs267607276
Entrez Id: 801
Gene Symbol: CALM1
CALM1
CUI: C1631597
Disease:
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder) 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs730882252
rs730882252
Entrez Id: 801
Gene Symbol: CALM1
CALM1
CUI: C4015671
Disease:
LONG QT SYNDROME 14 		G 0.700 CausalMutation CLINVAR
dbSNP: rs730882252
rs730882252
Entrez Id: 801
Gene Symbol: CALM1
CALM1
CUI: C4015695
Disease:
LONG QT SYNDROME 15 		0.700 GeneticVariation UNIPROT
dbSNP: rs730882253
rs730882253
Entrez Id: 801
Gene Symbol: CALM1
CALM1
CUI: C4015671
Disease:
LONG QT SYNDROME 14 		C 0.700 CausalMutation CLINVAR
dbSNP: rs12885713
rs12885713
Entrez Id: 801
Gene Symbol: CALM1
CALM1
CUI: C0029410
Disease:
Osteoarthritis of hip 		0.010 GeneticVariation BEFREE A functional core promoter single nucleotide polymorphism (SNP) -16C/T (rs12885713) was recently associated with hip OA (HOA) in the Japanese population, while no association was found in a British group of patients with HOA. 18452398 2008
dbSNP: rs12885713
rs12885713
Entrez Id: 801
Gene Symbol: CALM1
CALM1
CUI: C0263746
Disease:
Osteoarthritis of the hand 		0.010 GeneticVariation BEFREE A functional core promoter single nucleotide polymorphism (SNP) -16C/T (rs12885713) was recently associated with hip OA (HOA) in the Japanese population, while no association was found in a British group of patients with HOA. 18452398 2008
dbSNP: rs267607277
rs267607277
Entrez Id: 801
Gene Symbol: CALM1
CALM1
CUI: C1631597
Disease:
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder) 		0.710 GeneticVariation BEFREE A second, de novo, missense mutation (c.293A>G [p.Asn97Ser]) was subsequently identified in an individual of Iraqi origin; this individual was diagnosed with CPVT from a screening of 61 arrhythmia samples with no identified RYR2 mutations. 23040497 2012
dbSNP: rs267607277
rs267607277
Entrez Id: 801
Gene Symbol: CALM1
CALM1
CUI: C3554047
Disease:
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4 		G 0.700 CausalMutation CLINVAR Arrhythmogenic Calmodulin Mutations Affect the Activation and Termination of Cardiac Ryanodine Receptor-mediated Ca2+ Release. 26309258 2015
dbSNP: rs267607277
rs267607277
Entrez Id: 801
Gene Symbol: CALM1
CALM1
CUI: C4015671
Disease:
LONG QT SYNDROME 14 		G 0.700 CausalMutation CLINVAR Arrhythmogenic Calmodulin Mutations Affect the Activation and Termination of Cardiac Ryanodine Receptor-mediated Ca2+ Release. 26309258 2015
dbSNP: rs267607276
rs267607276
Entrez Id: 801
Gene Symbol: CALM1
CALM1
CUI: C3554047
Disease:
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4 		0.800 GeneticVariation UNIPROT Arrhythmogenic calmodulin mutations impede activation of small-conductance calcium-activated potassium current. 27165696 2016
dbSNP: rs12885713
rs12885713
Entrez Id: 801
Gene Symbol: CALM1
CALM1
CUI: C0029408
Disease:
Degenerative polyarthritis 		0.030 GeneticVariation BEFREE Based on the findings of our present study, the rs12885713 polymorphism of CALM1 did not appear to be associated with OA predisposition. 30200150 2018
dbSNP: rs3179089
rs3179089
Entrez Id: 801
Gene Symbol: CALM1
CALM1
CUI: C0948008
Disease:
Ischemic stroke 		0.010 GeneticVariation BEFREE CALM1 rs3179089</span> polymorphism was associated with IS risk in Chinese females, and related to blood coagulation of IS patients. 29713907 2018
dbSNP: rs267607277
rs267607277
Entrez Id: 801
Gene Symbol: CALM1
CALM1
CUI: C3554047
Disease:
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4 		G 0.700 CausalMutation CLINVAR Calmodulin mutations associated with long QT syndrome prevent inactivation of cardiac L-type Ca(2+) currents and promote proarrhythmic behavior in ventricular myocytes. 24816216 2014
dbSNP: rs267607277
rs267607277
Entrez Id: 801
Gene Symbol: CALM1
CALM1
CUI: C4015671
Disease:
LONG QT SYNDROME 14 		G 0.700 CausalMutation CLINVAR Calmodulin mutations associated with long QT syndrome prevent inactivation of cardiac L-type Ca(2+) currents and promote proarrhythmic behavior in ventricular myocytes. 24816216 2014
dbSNP: rs267607277
rs267607277
Entrez Id: 801
Gene Symbol: CALM1
CALM1
CUI: C4015671
Disease:
LONG QT SYNDROME 14 		G 0.700 CausalMutation CLINVAR Calmodulin mutations causing catecholaminergic polymorphic ventricular tachycardia confer opposing functional and biophysical molecular changes. 25557436 2015
dbSNP: rs267607277
rs267607277
Entrez Id: 801
Gene Symbol: CALM1
CALM1
CUI: C3554047
Disease:
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4 		G 0.700 CausalMutation CLINVAR Calmodulin mutations causing catecholaminergic polymorphic ventricular tachycardia confer opposing functional and biophysical molecular changes. 25557436 2015
dbSNP: rs267607276
rs267607276
Entrez Id: 801
Gene Symbol: CALM1
CALM1
CUI: C3554047
Disease:
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4 		0.800 GeneticVariation UNIPROT Distinctive malfunctions of calmodulin mutations associated with heart RyR2-mediated arrhythmic disease. 26164367 2015
dbSNP: rs267607277
rs267607277
Entrez Id: 801
Gene Symbol: CALM1
CALM1
CUI: C3554047
Disease:
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4 		G 0.700 CausalMutation CLINVAR Divergent regulation of ryanodine receptor 2 calcium release channels by arrhythmogenic human calmodulin missense mutants. 24563457 2014
dbSNP: rs267607277
rs267607277
Entrez Id: 801
Gene Symbol: CALM1
CALM1
CUI: C4015671
Disease:
LONG QT SYNDROME 14 		G 0.700 CausalMutation CLINVAR Divergent regulation of ryanodine receptor 2 calcium release channels by arrhythmogenic human calmodulin missense mutants. 24563457 2014
dbSNP: rs267607277
rs267607277
Entrez Id: 801
Gene Symbol: CALM1
CALM1
CUI: C3554047
Disease:
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4 		G 0.700 GeneticVariation CLINVAR Divergent regulation of ryanodine receptor 2 calcium release channels by arrhythmogenic human calmodulin missense mutants. 24563457 2014
dbSNP: rs1085307479
rs1085307479
Entrez Id: 801
Gene Symbol: CALM1
CALM1
CUI: C0023976
Disease:
Long QT Syndrome 		0.010 GeneticVariation BEFREE Elucidating arrhythmogenic mechanisms of long-QT syndrome CALM1-F142L mutation in patient-specific induced pluripotent stem cell-derived cardiomyocytes. 28158429 2017