Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894575
rs104894575
KCNJ2
0.810 GeneticVariation BEFREE We determined that WT and D71V AS mutant K<sub>IR</sub>2.1 channels are localized to the sarcolemma and the transverse tubules (T-tubules) of skeletal muscle fibers, while the ∆314-315 AS K<sub>IR</sub>2.1 mutation prevents proper trafficking of the homo- or hetero-meric channel complexes. 29018970

2018
dbSNP: rs104894585
rs104894585
KCNJ2
T 0.810 CausalMutation CLINVAR Andersen-Tawil syndrome: report of 3 novel mutations and high risk of symptomatic cardiac involvement. 24861851

2015
dbSNP: rs104894585
rs104894585
KCNJ2
T 0.810 CausalMutation CLINVAR Prevalence of early-onset atrial fibrillation in congenital long QT syndrome. 18452873

2008
dbSNP: rs104894575
rs104894575
KCNJ2
0.810 GeneticVariation UNIPROT Corticosteroid-exacerbated symptoms in an Andersen's syndrome kindred. 17324964

2007
dbSNP: rs104894585
rs104894585
KCNJ2
0.810 GeneticVariation UNIPROT Corticosteroid-exacerbated symptoms in an Andersen's syndrome kindred. 17324964

2007
dbSNP: rs104894585
rs104894585
KCNJ2
T 0.810 CausalMutation CLINVAR In this study, we characterized the KCNJ2 channels with an ATS mutation (T75M) which is associated with cardiac phenotypes of bi-directional ventricular tachycardia, syncope, and QT(c) prolongation. 17582433

2007
dbSNP: rs104894585
rs104894585
KCNJ2
0.810 GeneticVariation BEFREE T75M-KCNJ2 mutation causing Andersen-Tawil syndrome enhances inward rectification by changing Mg2+ sensitivity. 17582433

2007
dbSNP: rs104894585
rs104894585
KCNJ2
T 0.810 CausalMutation CLINVAR KCNJ2 mutations in arrhythmia patients referred for LQT testing: a mutation T305A with novel effect on rectification properties. 17341397

2007
dbSNP: rs104894575
rs104894575
KCNJ2
0.810 GeneticVariation UNIPROT Functional and clinical characterization of a mutation in KCNJ2 associated with Andersen-Tawil syndrome. 16571646

2006
dbSNP: rs104894585
rs104894585
KCNJ2
0.810 GeneticVariation UNIPROT Functional and clinical characterization of a mutation in KCNJ2 associated with Andersen-Tawil syndrome. 16571646

2006
dbSNP: rs104894585
rs104894585
KCNJ2
T 0.810 CausalMutation CLINVAR Electrocardiographic features in Andersen-Tawil syndrome patients with KCNJ2 mutations: characteristic T-U-wave patterns predict the KCNJ2 genotype. 15911703

2005
dbSNP: rs104894585
rs104894585
KCNJ2
T 0.810 CausalMutation CLINVAR Andersen-Tawil syndrome: new potassium channel mutations and possible phenotypic variation. 16217063

2005
dbSNP: rs104894575
rs104894575
KCNJ2
0.810 GeneticVariation UNIPROT Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome). 12163457

2002
dbSNP: rs104894575
rs104894575
KCNJ2
0.810 GeneticVariation UNIPROT KCNJ2 mutation results in Andersen syndrome with sex-specific cardiac and skeletal muscle phenotypes. 12148092

2002
dbSNP: rs104894585
rs104894585
KCNJ2
0.810 GeneticVariation UNIPROT Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome). 12163457

2002
dbSNP: rs104894585
rs104894585
KCNJ2
0.810 GeneticVariation UNIPROT KCNJ2 mutation results in Andersen syndrome with sex-specific cardiac and skeletal muscle phenotypes. 12148092

2002
dbSNP: rs104894575
rs104894575
KCNJ2
0.810 GeneticVariation UNIPROT Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome. 11371347

2001
dbSNP: rs104894585
rs104894585
KCNJ2
0.810 GeneticVariation UNIPROT Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome. 11371347

2001
dbSNP: rs104894575
rs104894575
KCNJ2
T 0.810 CausalMutation CLINVAR

dbSNP: rs104894585
rs104894585
KCNJ2
G 0.810 CausalMutation CLINVAR

dbSNP: rs104894578
rs104894578
KCNJ2
T 0.800 CausalMutation CLINVAR Genetic testing revealed a de novo heterozygous mutation (R218W) in KCNJ2 associated with ATS. 25415519

2014
dbSNP: rs104894580
rs104894580
KCNJ2
T 0.800 CausalMutation CLINVAR Cardiac characteristics and long-term outcome in Andersen-Tawil syndrome patients related to KCNJ2 mutation. 23867365

2013
dbSNP: rs104894578
rs104894578
KCNJ2
T 0.800 CausalMutation CLINVAR Phenotype variability in patients carrying KCNJ2 mutations. 22589293

2012
dbSNP: rs104894580
rs104894580
KCNJ2
T 0.800 CausalMutation CLINVAR Membrane dysfunction in Andersen-Tawil syndrome assessed by velocity recovery cycles. 22806368

2012
dbSNP: rs104894580
rs104894580
KCNJ2
T 0.800 CausalMutation CLINVAR Phenotype variability in patients carrying KCNJ2 mutations. 22589293

2012