rs12720459, KCNQ1

N. diseases: 7
Disease: Long QT Syndrome 1 ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Long QT Syndrome 1
CUI: C4551647
Disease: Long QT Syndrome 1
0.850 GeneticVariation UNIPROT Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 27854360 2017
Long QT Syndrome 1
CUI: C4551647
Disease: Long QT Syndrome 1
0.850 GeneticVariation BEFREE Enhanced effects of isoflurane on the long QT syndrome 1-associated A341V mutant. 25585005 2015
Long QT Syndrome 1
CUI: C4551647
Disease: Long QT Syndrome 1
0.850 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965 2015
Long QT Syndrome 1
CUI: C4551647
Disease: Long QT Syndrome 1
0.850 GeneticVariation BEFREE The study assesses complexity of the cardiac control directed to the sinus node and to ventricles in long QT syndrome type 1 (LQT1) patients with KCNQ1-A341V mutation. 24705789 2014
Long QT Syndrome 1
CUI: C4551647
Disease: Long QT Syndrome 1
0.850 GeneticVariation UNIPROT ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249 2013
Long QT Syndrome 1
CUI: C4551647
Disease: Long QT Syndrome 1
0.850 GeneticVariation UNIPROT Executive summary: HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromes. 23994779 2013
Long QT Syndrome 1
CUI: C4551647
Disease: Long QT Syndrome 1
0.850 GeneticVariation UNIPROT HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA). 21810866 2011
Long QT Syndrome 1
CUI: C4551647
Disease: Long QT Syndrome 1
0.850 GeneticVariation BEFREE Seventy-eight patients, all with a single KCNQ1-A341V mutation, from 21 families and 8 countries were compared with 166 SA patients with A341V and with 205 non-A341V LQT1 patients. 17984373 2007
Long QT Syndrome 1
CUI: C4551647
Disease: Long QT Syndrome 1
0.850 GeneticVariation BEFREE Does pregnancy increase cardiac risk for LQT1 patients with the KCNQ1-A341V mutation? 17010804 2006
Long QT Syndrome 1
CUI: C4551647
Disease: Long QT Syndrome 1
0.850 GeneticVariation BEFREE This study also unexpectedly determined that KCNQ1-A341V is associated with greater risk than that reported for large databases of LQT1 patients: A341V MCs are more symptomatic by age 40 years (79% versus 30%) and become symptomatic earlier (7+/-4 versus 13+/-9 years, both P<0.001). 16246960 2005
Long QT Syndrome 1
CUI: C4551647
Disease: Long QT Syndrome 1
0.850 CausalMutation CLINVAR
Long QT Syndrome 1
CUI: C4551647
Disease: Long QT Syndrome 1
0.850 CausalMutation CLINVAR