Disease: Short QT Syndrome 3 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894578
rs104894578
Entrez Id: 3759
Gene Symbol: KCNJ2
KCNJ2
CUI: C1865018
Disease:
Short QT Syndrome 3 		T 0.700 CausalMutation CLINVAR Andersen-Tawil syndrome with early fixed myopathy. 25415519 2014
dbSNP: rs104894578
rs104894578
Entrez Id: 3759
Gene Symbol: KCNJ2
KCNJ2
CUI: C1865018
Disease:
Short QT Syndrome 3 		T 0.700 CausalMutation CLINVAR Phenotype variability in patients carrying KCNJ2 mutations. 22589293 2012
dbSNP: rs104894578
rs104894578
Entrez Id: 3759
Gene Symbol: KCNJ2
KCNJ2
CUI: C1865018
Disease:
Short QT Syndrome 3 		T 0.700 CausalMutation CLINVAR Mutations of KCNJ2 gene associated with Andersen-Tawil syndrome in Korean families. 17211524 2007
dbSNP: rs104894578
rs104894578
Entrez Id: 3759
Gene Symbol: KCNJ2
KCNJ2
CUI: C1865018
Disease:
Short QT Syndrome 3 		T 0.700 CausalMutation CLINVAR Genotype-phenotype correlations of KCNJ2 mutations in Japanese patients with Andersen-Tawil syndrome. 17221872 2007
dbSNP: rs104894578
rs104894578
Entrez Id: 3759
Gene Symbol: KCNJ2
KCNJ2
CUI: C1865018
Disease:
Short QT Syndrome 3 		T 0.700 CausalMutation CLINVAR Impaired interaction between the slide helix and the C-terminus of Kir2.1: a novel mechanism of Andersen syndrome. 17568571 2007
dbSNP: rs104894578
rs104894578
Entrez Id: 3759
Gene Symbol: KCNJ2
KCNJ2
CUI: C1865018
Disease:
Short QT Syndrome 3 		T 0.700 CausalMutation CLINVAR Andersen syndrome: an association of periodic paralysis, cardiac arrhythmia and dysmorphic abnormalities. 17119796 2006
dbSNP: rs104894578
rs104894578
Entrez Id: 3759
Gene Symbol: KCNJ2
KCNJ2
CUI: C1865018
Disease:
Short QT Syndrome 3 		T 0.700 CausalMutation CLINVAR Andersen-Tawil syndrome: new potassium channel mutations and possible phenotypic variation. 16217063 2005
dbSNP: rs104894578
rs104894578
Entrez Id: 3759
Gene Symbol: KCNJ2
KCNJ2
CUI: C1865018
Disease:
Short QT Syndrome 3 		T 0.700 CausalMutation CLINVAR PIP2 binding residues of Kir2.1 are common targets of mutations causing Andersen syndrome. 12796536 2003
dbSNP: rs104894578
rs104894578
Entrez Id: 3759
Gene Symbol: KCNJ2
KCNJ2
CUI: C1865018
Disease:
Short QT Syndrome 3 		T 0.700 CausalMutation CLINVAR Andersen mutations of KCNJ2 suppress the native inward rectifier current IK1 in a dominant-negative fashion. 12909315 2003
dbSNP: rs104894578
rs104894578
Entrez Id: 3759
Gene Symbol: KCNJ2
KCNJ2
CUI: C1865018
Disease:
Short QT Syndrome 3 		T 0.700 CausalMutation CLINVAR Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome. 11371347 2001