rs767910122, KCNH2

N. diseases: 17
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.
Cardiac Arrhythmia
CUI: C0003811
Disease: Cardiac Arrhythmia
111 0.724 0.280 7 150948446 frameshift variant -/GTCCG ins 4.4E-05 0.020 1.000 2 2010 2017
Long QT Syndrome
CUI: C0023976
Disease: Long QT Syndrome
349 0.724 0.280 7 150948446 frameshift variant -/GTCCG ins 4.4E-05 0.020 1.000 2 2008 2010
Myocardial Infarction
CUI: C0027051
Disease: Myocardial Infarction
680 0.724 0.280 7 150948446 frameshift variant -/GTCCG ins 4.4E-05 0.020 1.000 2 2008 2012
Syncope
CUI: C0039070
Disease: Syncope
45 0.724 0.280 7 150948446 frameshift variant -/GTCCG ins 4.4E-05 0.020 1.000 2 2011 2017
Ventricular tachycardia, polymorphic
CUI: C0344432
Disease: Ventricular tachycardia, polymorphic
11 0.724 0.280 7 150948446 frameshift variant -/GTCCG ins 4.4E-05 0.020 1.000 2 2016 2017
Acute myocardial infarction
CUI: C0155626
Disease: Acute myocardial infarction
118 0.724 0.280 7 150948446 frameshift variant -/GTCCG ins 4.4E-05 0.010 1.000 1 2012 2012
Andersen Syndrome
CUI: C1563715
Disease: Andersen Syndrome
38 0.724 0.280 7 150948446 frameshift variant -/GTCCG ins 4.4E-05 0.010 1.000 1 2016 2016
Atrial Fibrillation
CUI: C0004238
Disease: Atrial Fibrillation
584 0.724 0.280 7 150948446 frameshift variant -/GTCCG ins 4.4E-05 0.010 1.000 1 2019 2019
Cardiac Arrest
CUI: C0018790
Disease: Cardiac Arrest
50 0.724 0.280 7 150948446 frameshift variant -/GTCCG ins 4.4E-05 0.010 1.000 1 2017 2017
Childhood Acute Myeloid Leukemia
CUI: C0220621
Disease: Childhood Acute Myeloid Leukemia
6 0.724 0.280 7 150948446 frameshift variant -/GTCCG ins 4.4E-05 0.010 1.000 1 2015 2015
Congenital long QT syndrome
CUI: C1141890
Disease: Congenital long QT syndrome
54 0.724 0.280 7 150948446 frameshift variant -/GTCCG ins 4.4E-05 0.010 1.000 1 2005 2005
Familial Periodic Paralysis
CUI: C0030443
Disease: Familial Periodic Paralysis
10 0.724 0.280 7 150948446 frameshift variant -/GTCCG ins 4.4E-05 0.010 1.000 1 2017 2017
Muscle Weakness
CUI: C0151786
Disease: Muscle Weakness
87 0.724 0.280 7 150948446 frameshift variant -/GTCCG ins 4.4E-05 0.010 1.000 1 2017 2017
Paresis
CUI: C0030552
Disease: Paresis
49 0.724 0.280 7 150948446 frameshift variant -/GTCCG ins 4.4E-05 0.010 1.000 1 2017 2017
periodic paralysis (finding)
CUI: C1279412
Disease: periodic paralysis (finding)
11 0.724 0.280 7 150948446 frameshift variant -/GTCCG ins 4.4E-05 0.010 1.000 1 2017 2017
Sudden infant death syndrome
CUI: C0038644
Disease: Sudden infant death syndrome
68 0.724 0.280 7 150948446 frameshift variant -/GTCCG ins 4.4E-05 0.010 1.000 1 2010 2010
Torsades de Pointes
CUI: C0040479
Disease: Torsades de Pointes
14 0.724 0.280 7 150948446 frameshift variant -/GTCCG ins 4.4E-05 0.010 1.000 1 2012 2012