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: 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: rs199473024
rs199473024
KCNH2
7 150947362 missense variant T/C snv 7.0E-06
CUI: C1560249
Disease: Adverse Event Associated with Cardiac Arrhythmia
Adverse Event Associated with Cardiac Arrhythmia 		0.010 1.000 1 2018 2018
dbSNP: rs757549384
rs757549384
KCNH2
7 150948478 synonymous variant C/T snv 4.0E-06
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		0.010 1.000 1 2008 2008
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: rs199472856
rs199472856
KCNH2
1.000 0.040 7 150974717 stop gained T/A;C snv
CUI: C0038644
Disease: Sudden infant death syndrome
Sudden infant death syndrome 		0.010 1.000 1 2005 2005
dbSNP: rs781140785
rs781140785
KCNH2
0.925 0.040 7 150952801 missense variant C/T snv 1.2E-05 4.2E-05
CUI: C0853193
Disease: Bipolar I disorder
Bipolar I disorder 		0.010 1.000 1 2014 2014
dbSNP: rs781140785
rs781140785
KCNH2
0.925 0.040 7 150952801 missense variant C/T snv 1.2E-05 4.2E-05
CUI: C0302847
Disease: major affective disorder
major affective disorder 		0.010 1.000 1 2014 2014
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: 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: rs1805120
rs1805120
KCNH2
0.882 0.080 7 150952443 synonymous variant G/A snv 0.30 0.26
CUI: C0085612
Disease: Ventricular arrhythmia
Ventricular arrhythmia 		0.010 1.000 1 2020 2020
dbSNP: rs1805120
rs1805120
KCNH2
0.882 0.080 7 150952443 synonymous variant G/A snv 0.30 0.26
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		0.010 1.000 1 2009 2009
dbSNP: rs1805120
rs1805120
KCNH2
0.882 0.080 7 150952443 synonymous variant G/A snv 0.30 0.26
CUI: C0155626
Disease: Acute myocardial infarction
Acute myocardial infarction 		0.010 1.000 1 2020 2020
dbSNP: rs199473547
rs199473547
KCNH2
1.000 0.080 7 150945441 missense variant C/T snv 1.4E-05
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		0.010 1.000 1 2014 2014
dbSNP: rs2968857
rs2968857
KCNH2
1.000 0.080 7 150965242 intron variant C/T snv 0.70
CUI: C0018799
Disease: Heart Diseases
Heart Diseases 		0.010 1.000 1 2009 2009
dbSNP: rs2968857
rs2968857
KCNH2
1.000 0.080 7 150965242 intron variant C/T snv 0.70
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		0.010 < 0.001 1 2009 2009
dbSNP: rs3807375
rs3807375
KCNH2
1.000 0.080 7 150970122 intron variant C/A;T snv
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		0.010 < 0.001 1 2009 2009
dbSNP: rs62492438
rs62492438
KCNH2
1.000 0.080 7 150955422 missense variant G/A;C snv 7.1E-05 4.2E-05
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		0.010 1.000 1 2004 2004
dbSNP: rs740952
rs740952
KCNH2
0.925 0.080 7 150952515 synonymous variant G/A;T snv 0.30; 7.2E-05
CUI: C0155626
Disease: Acute myocardial infarction
Acute myocardial infarction 		0.010 1.000 1 2020 2020
dbSNP: rs740952
rs740952
KCNH2
0.925 0.080 7 150952515 synonymous variant G/A;T snv 0.30; 7.2E-05
CUI: C0085612
Disease: Ventricular arrhythmia
Ventricular arrhythmia 		0.010 1.000 1 2020 2020
dbSNP: rs781255319
rs781255319
KCNH2
1.000 0.080 7 150947737 missense variant C/T snv
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		0.010 1.000 1 2014 2014
dbSNP: rs946110595
rs946110595
KCNH2
1.000 0.080 7 150957434 missense variant T/C snv
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		0.010 1.000 1 2004 2004
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: rs199472936
rs199472936
KCNH2
0.882 0.120 7 150951592 missense variant C/A;T snv
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		0.830 1.000 3 1995 2017
dbSNP: rs28928905
rs28928905
KCNH2
0.851 0.120 7 150952514 missense variant C/G;T snv
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.730 1.000 3 2001 2013