rs1805128, KCNE1

N. diseases: 10
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Long QT Syndrome
CUI: C0023976
Disease: Long QT Syndrome
349 0.776 0.160 21 34449382 missense variant C/T snv 9.4E-03 0.750 1.000 9 2000 2018
QT interval feature (observable entity)
CUI: C0429028
Disease: QT interval feature (observable entity)
226 0.776 0.160 21 34449382 missense variant C/T snv 9.4E-03 0.700 1.000 2 2014 2019
LONG QT SYNDROME 5
CUI: C1867904
Disease: LONG QT SYNDROME 5
21 0.776 0.160 21 34449382 missense variant C/T snv 9.4E-03 0.700 0
LONG QT SYNDROME 5, ACQUIRED, SUSCEPTIBILITY TO
CUI: C3150956
Disease: LONG QT SYNDROME 5, ACQUIRED, SUSCEPTIBILITY TO
1 0.776 0.160 21 34449382 missense variant C/T snv 9.4E-03 0.700 0
Cardiac Arrhythmia
CUI: C0003811
Disease: Cardiac Arrhythmia
111 0.776 0.160 21 34449382 missense variant C/T snv 9.4E-03 0.020 1.000 2 2009 2019
Torsades de Pointes
CUI: C0040479
Disease: Torsades de Pointes
14 0.776 0.160 21 34449382 missense variant C/T snv 9.4E-03 0.020 1.000 2 2012 2013
Atrial Fibrillation
CUI: C0004238
Disease: Atrial Fibrillation
584 0.776 0.160 21 34449382 missense variant C/T snv 9.4E-03 0.010 1.000 1 2007 2007
Congenital long QT syndrome
CUI: C1141890
Disease: Congenital long QT syndrome
54 0.776 0.160 21 34449382 missense variant C/T snv 9.4E-03 0.010 1 2013 2013
Heterotaxy Syndrome
CUI: C3178805
Disease: Heterotaxy Syndrome
8 0.776 0.160 21 34449382 missense variant C/T snv 9.4E-03 0.010 1.000 1 2013 2013
Long Qt Syndrome 2
CUI: C3150943
Disease: Long Qt Syndrome 2
267 0.776 0.160 21 34449382 missense variant C/T snv 9.4E-03 0.010 1 2011 2011