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: 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: 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
dbSNP: rs104894021
rs104894021
KCNH2
0.851 0.120 7 150951629 missense variant G/C;T snv
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		0.010 1.000 1 2014 2014
dbSNP: rs104894021
rs104894021
KCNH2
0.851 0.120 7 150951629 missense variant G/C;T snv
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 2005 2005
dbSNP: rs1064795287
rs1064795287
KCNH2
0.925 0.120 7 150947683 frameshift variant GG/T delins
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.010 1.000 1 2018 2018
dbSNP: rs1064795287
rs1064795287
KCNH2
0.925 0.120 7 150947683 frameshift variant GG/T delins
CUI: C0038644
Disease: Sudden infant death syndrome
Sudden infant death syndrome 		0.010 1.000 1 2018 2018
dbSNP: rs1137617
rs1137617
KCNH2
1.000 0.120 7 150951110 stop gained A/C;G;T snv 0.66
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.010 1.000 1 2009 2009
dbSNP: rs1202891821
rs1202891821
KCNH2
1.000 0.080 7 150947849 frameshift variant -/TTGG ins
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		0.010 1.000 1 2014 2014
dbSNP: rs121912504
rs121912504
KCNH2
0.851 0.200 7 150951711 missense variant G/A snv
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.710 1.000 1 2018 2018
dbSNP: rs121912504
rs121912504
KCNH2
0.851 0.200 7 150951711 missense variant G/A snv
CUI: C0039070
Disease: Syncope
Syncope 		0.010 1.000 1 2016 2016
dbSNP: rs121912504
rs121912504
KCNH2
0.851 0.200 7 150951711 missense variant G/A snv
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.010 1.000 1 2016 2016
dbSNP: rs121912504
rs121912504
KCNH2
0.851 0.200 7 150951711 missense variant G/A snv
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		0.810 1.000 1 1995 2014
dbSNP: rs121912505
rs121912505
KCNH2
1.000 0.120 7 150952574 missense variant T/C snv
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		0.810 1.000 1 1995 2017
dbSNP: rs121912507
rs121912507
KCNH2
0.882 0.120 7 150951511 missense variant C/G;T snv
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		0.820 1.000 2 1995 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: rs121912507
rs121912507
KCNH2
0.882 0.120 7 150951511 missense variant C/G;T snv
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		0.010 1.000 1 2008 2008
dbSNP: rs121912507
rs121912507
KCNH2
0.882 0.120 7 150951511 missense variant C/G;T snv
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.710 1.000 1 1995 2013
dbSNP: rs121912511
rs121912511
KCNH2
0.925 0.120 7 150974825 missense variant T/G snv
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.010 1.000 1 2002 2002
dbSNP: rs121912512
rs121912512
KCNH2
0.882 0.120 7 150950311 missense variant C/T snv 4.0E-06 1.4E-05
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.710 1.000 1 2003 2003
dbSNP: rs121912512
rs121912512
KCNH2
0.882 0.120 7 150950311 missense variant C/T snv 4.0E-06 1.4E-05
CUI: C0042514
Disease: Tachycardia, Ventricular
Tachycardia, Ventricular 		0.010 1.000 1 2003 2003
dbSNP: rs121912516
rs121912516
KCNH2
0.882 0.120 7 150951721 missense variant C/G snv
CUI: C0042510
Disease: Ventricular Fibrillation
Ventricular Fibrillation 		0.010 1.000 1 2008 2008
dbSNP: rs121912516
rs121912516
KCNH2
0.882 0.120 7 150951721 missense variant C/G snv
CUI: C0344432
Disease: Ventricular tachycardia, polymorphic
Ventricular tachycardia, polymorphic 		0.010 1.000 1 2008 2008
dbSNP: rs1254179611
rs1254179611
KCNH2
1.000 0.120 7 150958295 missense variant G/A snv
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		0.010 1.000 1 2002 2002
dbSNP: rs1254179611
rs1254179611
KCNH2
1.000 0.120 7 150958295 missense variant G/A snv
CUI: C0039070
Disease: Syncope
Syncope 		0.010 1.000 1 2002 2002
dbSNP: rs1254179611
rs1254179611
KCNH2
1.000 0.120 7 150958295 missense variant G/A snv
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.010 1.000 1 2002 2002