Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs794728391
rs794728391
KCNH2
0.925 0.120 7 150950167 splice donor variant C/A;G snv
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.710 1.000 1 2008 2008
dbSNP: rs104894021
rs104894021
KCNH2
0.851 0.120 7 150951629 missense variant G/C;T snv
CUI: C2348199
Disease: Short Qt Syndrome
Short Qt Syndrome 		0.080 1.000 8 2005 2019
dbSNP: rs199472830
rs199472830
KCNH2
0.925 0.120 7 150974931 missense variant G/T snv
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.030 1.000 3 1999 2015
dbSNP: rs3800779
rs3800779
KCNH2
1.000 0.040 7 150974126 intron variant C/A;T snv
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.030 1.000 3 2010 2019
dbSNP: rs121912507
rs121912507
KCNH2
0.882 0.120 7 150951511 missense variant C/G;T snv
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		0.020 1.000 2 2010 2017
dbSNP: rs1805123
rs1805123
KCNH2
0.724 0.280 7 150948446 missense variant T/A;C;G snv 1.3E-05; 0.18; 8.4E-06
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		0.020 1.000 2 2010 2017
dbSNP: rs1805123
rs1805123
KCNH2
0.724 0.280 7 150948446 missense variant T/A;C;G snv 1.3E-05; 0.18; 8.4E-06
CUI: C0039070
Disease: Syncope
Syncope 		0.020 1.000 2 2011 2017
dbSNP: rs1805123
rs1805123
KCNH2
0.724 0.280 7 150948446 missense variant T/A;C;G snv 1.3E-05; 0.18; 8.4E-06
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.020 1.000 2 2008 2010
dbSNP: rs1805123
rs1805123
KCNH2
0.724 0.280 7 150948446 missense variant T/A;C;G snv 1.3E-05; 0.18; 8.4E-06
CUI: C0344432
Disease: Ventricular tachycardia, polymorphic
Ventricular tachycardia, polymorphic 		0.020 1.000 2 2016 2017
dbSNP: rs1805123
rs1805123
KCNH2
0.724 0.280 7 150948446 missense variant T/A;C;G snv 1.3E-05; 0.18; 8.4E-06
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		0.020 1.000 2 2008 2012
dbSNP: rs199472862
rs199472862
KCNH2
1.000 0.120 7 150959673 missense variant A/C;G snv
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.020 1.000 2 2004 2005
dbSNP: rs199472947
rs199472947
KCNH2
1.000 0.080 7 150951540 missense variant G/A;C snv
CUI: C2348199
Disease: Short Qt Syndrome
Short Qt Syndrome 		0.020 1.000 2 2011 2019
dbSNP: rs199473024
rs199473024
KCNH2
7 150947362 missense variant T/C snv 7.0E-06
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		0.020 1.000 2 2014 2018
dbSNP: rs767910122
rs767910122
KCNH2
0.724 0.280 7 150948446 frameshift variant -/GTCCG ins 4.4E-05
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		0.020 1.000 2 2008 2012
dbSNP: rs767910122
rs767910122
KCNH2
0.724 0.280 7 150948446 frameshift variant -/GTCCG ins 4.4E-05
CUI: C0039070
Disease: Syncope
Syncope 		0.020 1.000 2 2011 2017
dbSNP: rs767910122
rs767910122
KCNH2
0.724 0.280 7 150948446 frameshift variant -/GTCCG ins 4.4E-05
CUI: C0344432
Disease: Ventricular tachycardia, polymorphic
Ventricular tachycardia, polymorphic 		0.020 1.000 2 2016 2017
dbSNP: rs767910122
rs767910122
KCNH2
0.724 0.280 7 150948446 frameshift variant -/GTCCG ins 4.4E-05
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.020 1.000 2 2008 2010
dbSNP: rs767910122
rs767910122
KCNH2
0.724 0.280 7 150948446 frameshift variant -/GTCCG ins 4.4E-05
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		0.020 1.000 2 2010 2017
dbSNP: rs769505732
rs769505732
KCNH2
0.925 0.120 7 150952696 missense variant G/A snv 4.0E-06
CUI: C1141890
Disease: Congenital long QT syndrome
Congenital long QT syndrome 		0.020 1.000 2 2005 2013
dbSNP: rs794728448
rs794728448
KCNH2
0.724 0.280 7 150948445 frameshift variant CT/G delins
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.020 1.000 2 2008 2010
dbSNP: rs794728448
rs794728448
KCNH2
0.724 0.280 7 150948445 frameshift variant CT/G delins
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		0.020 1.000 2 2010 2017
dbSNP: rs794728448
rs794728448
KCNH2
0.724 0.280 7 150948445 frameshift variant CT/G delins
CUI: C0039070
Disease: Syncope
Syncope 		0.020 1.000 2 2011 2017
dbSNP: rs794728448
rs794728448
KCNH2
0.724 0.280 7 150948445 frameshift variant CT/G delins
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		0.020 1.000 2 2008 2012
dbSNP: rs794728448
rs794728448
KCNH2
0.724 0.280 7 150948445 frameshift variant CT/G delins
CUI: C0344432
Disease: Ventricular tachycardia, polymorphic
Ventricular tachycardia, polymorphic 		0.020 1.000 2 2016 2017
dbSNP: rs104894021
rs104894021
KCNH2
0.851 0.120 7 150951629 missense variant G/C;T snv
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		0.010 1.000 1 2005 2005