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: 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: rs767910122
rs767910122
KCNH2
0.724 0.280 7 150948446 frameshift variant -/GTCCG ins 4.4E-05
CUI: C0040479
Disease: Torsades de Pointes
Torsades de Pointes 		0.010 1.000 1 2012 2012
dbSNP: rs767910122
rs767910122
KCNH2
0.724 0.280 7 150948446 frameshift variant -/GTCCG ins 4.4E-05
CUI: C0030443
Disease: Familial Periodic Paralysis
Familial Periodic Paralysis 		0.010 1.000 1 2017 2017
dbSNP: rs767910122
rs767910122
KCNH2
0.724 0.280 7 150948446 frameshift variant -/GTCCG ins 4.4E-05
CUI: C0018790
Disease: Cardiac Arrest
Cardiac Arrest 		0.010 1.000 1 2017 2017
dbSNP: rs767910122
rs767910122
KCNH2
0.724 0.280 7 150948446 frameshift variant -/GTCCG ins 4.4E-05
CUI: C1563715
Disease: Andersen Syndrome
Andersen Syndrome 		0.010 1.000 1 2016 2016
dbSNP: rs767910122
rs767910122
KCNH2
0.724 0.280 7 150948446 frameshift variant -/GTCCG ins 4.4E-05
CUI: C0220621
Disease: Childhood Acute Myeloid Leukemia
Childhood Acute Myeloid Leukemia 		0.010 1.000 1 2015 2015
dbSNP: rs767910122
rs767910122
KCNH2
0.724 0.280 7 150948446 frameshift variant -/GTCCG ins 4.4E-05
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		0.010 1.000 1 2017 2017
dbSNP: rs767910122
rs767910122
KCNH2
0.724 0.280 7 150948446 frameshift variant -/GTCCG ins 4.4E-05
CUI: C0038644
Disease: Sudden infant death syndrome
Sudden infant death syndrome 		0.010 1.000 1 2010 2010
dbSNP: rs767910122
rs767910122
KCNH2
0.724 0.280 7 150948446 frameshift variant -/GTCCG ins 4.4E-05
CUI: C1141890
Disease: Congenital long QT syndrome
Congenital long QT syndrome 		0.010 1.000 1 2005 2005
dbSNP: rs767910122
rs767910122
KCNH2
0.724 0.280 7 150948446 frameshift variant -/GTCCG ins 4.4E-05
CUI: C1279412
Disease: periodic paralysis (finding)
periodic paralysis (finding) 		0.010 1.000 1 2017 2017
dbSNP: rs767910122
rs767910122
KCNH2
0.724 0.280 7 150948446 frameshift variant -/GTCCG ins 4.4E-05
CUI: C0155626
Disease: Acute myocardial infarction
Acute myocardial infarction 		0.010 1.000 1 2012 2012
dbSNP: rs767910122
rs767910122
KCNH2
0.724 0.280 7 150948446 frameshift variant -/GTCCG ins 4.4E-05
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		0.010 1.000 1 2019 2019
dbSNP: rs767910122
rs767910122
KCNH2
0.724 0.280 7 150948446 frameshift variant -/GTCCG ins 4.4E-05
CUI: C0030552
Disease: Paresis
Paresis 		0.010 1.000 1 2017 2017
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: rs199472837
rs199472837
KCNH2
1.000 0.120 7 150974891 missense variant A/C snv
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		0.010 1.000 1 2009 2009
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: rs199473529
rs199473529
KCNH2
1.000 0.120 7 150951475 missense variant A/C;G snv
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		0.720 1.000 2 1995 2009
dbSNP: rs199472942
rs199472942
KCNH2
0.925 0.120 7 150951562 missense variant A/C;G snv
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.710 1.000 1 2005 2005
dbSNP: rs199472999
rs199472999
KCNH2
0.925 0.120 7 150949034 missense variant A/C;G snv
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		0.710 1.000 1 1995 2009
dbSNP: rs28928904
rs28928904
KCNH2
0.925 0.120 7 150951615 missense variant A/C;G;T snv 4.0E-06
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.720 1.000 2 1996 2005
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