rs120074178, KCNQ1

N. diseases: 2
Disease: Long QT Syndrome ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Long QT Syndrome
CUI: C0023976
Disease: Long QT Syndrome
0.700 GeneticVariation CLINVAR Novel Kv7.1-phosphatidylinositol 4,5-bisphosphate interaction sites uncovered by charge neutralization scanning. 24947509 2014
Long QT Syndrome
CUI: C0023976
Disease: Long QT Syndrome
0.700 CausalMutation CLINVAR Genotype-phenotype analysis of three Chinese families with Jervell and Lange-Nielsen syndrome. 22629021 2012
Long QT Syndrome
CUI: C0023976
Disease: Long QT Syndrome
0.700 CausalMutation CLINVAR Patient-specific induced pluripotent stem-cell models for long-QT syndrome. 20660394 2010
Long QT Syndrome
CUI: C0023976
Disease: Long QT Syndrome
0.700 GeneticVariation CLINVAR A new homozygous mutation of the KCNQ1 gene associated with both Romano-Ward and incomplete Jervell Lange-Nielsen syndromes in two sisters. 20138589 2010
Long QT Syndrome
CUI: C0023976
Disease: Long QT Syndrome
0.700 CausalMutation CLINVAR Clinical aspects of type-1 long-QT syndrome by location, coding type, and biophysical function of mutations involving the KCNQ1 gene. 17470695 2007
Long QT Syndrome
CUI: C0023976
Disease: Long QT Syndrome
0.700 CausalMutation CLINVAR Novel mutations in KvLQT1 that affect Iks activation through interactions with Isk. 10728423 2000
Long QT Syndrome
CUI: C0023976
Disease: Long QT Syndrome
0.700 CausalMutation CLINVAR Functional effects of mutations in KvLQT1 that cause long QT syndrome. 10376919 1999
Long QT Syndrome
CUI: C0023976
Disease: Long QT Syndrome
0.700 CausalMutation CLINVAR Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias. 8528244 1996