Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs199473035
rs199473035 		1.000 0.120 7 150945388 missense variant G/A snv 4.8E-05 2.1E-05
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 24 1995 2017
dbSNP: rs199473547
rs199473547 		1.000 0.080 7 150945441 missense variant C/T snv 1.4E-05
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs199473546
rs199473546 		1.000 0.120 7 150945502 missense variant T/C snv 1.4E-05
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 20 1995 2009
dbSNP: rs199473545
rs199473545 		1.000 0.120 7 150946929 missense variant G/A;C snv 3.3E-05; 4.1E-06
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.710 1.000 21 1995 2016
dbSNP: rs762510312
rs762510312 		0.925 0.120 7 150946956 missense variant G/A;C snv 4.8E-05; 1.2E-05
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2012 2012
dbSNP: rs762510312
rs762510312 		0.925 0.120 7 150946956 missense variant G/A;C snv 4.8E-05; 1.2E-05
CUI: C0039070
Disease: Syncope
Syncope 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs762510312
rs762510312 		0.925 0.120 7 150946956 missense variant G/A;C snv 4.8E-05; 1.2E-05
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2012 2012
dbSNP: rs199473029
rs199473029 		1.000 0.120 7 150946974 missense variant T/C snv 4.0E-06 2.1E-05
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 20 1995 2009
dbSNP: rs1554423863
rs1554423863 		1.000 0.120 7 150947005 stop gained G/A snv
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs199473027
rs199473027 		1.000 0.120 7 150947011 missense variant G/C snv
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 20 1995 2009
dbSNP: rs199473026
rs199473026 		1.000 0.120 7 150947334 missense variant A/G snv
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 20 1995 2009
dbSNP: rs794728472
rs794728472 		7 150947344 frameshift variant G/- delins
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.700 0
dbSNP: rs199473024
rs199473024 		7 150947362 missense variant T/C snv 7.0E-06
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.020 1.000 2 2014 2018
dbSNP: rs199473024
rs199473024 		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: rs794728470
rs794728470 		1.000 0.120 7 150947367 frameshift variant -/TCGCCCCG delins 1.4E-05
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.700 0
dbSNP: rs794728470
rs794728470 		1.000 0.120 7 150947367 frameshift variant -/TCGCCCCG delins 1.4E-05
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs199473544
rs199473544 		1.000 0.120 7 150947368 missense variant C/A;T snv 2.8E-05; 1.2E-04
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 20 1995 2009
dbSNP: rs794728466
rs794728466 		1.000 0.120 7 150947371 frameshift variant CCGGGGCCGCC/-;CCGGGGCCGCCCCGGGGCCGCC delins 1.4E-05
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs199473022
rs199473022 		1.000 0.120 7 150947373 missense variant C/T snv 6.9E-05 1.3E-04
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 20 1995 2009
dbSNP: rs794728469
rs794728469 		1.000 0.120 7 150947373 frameshift variant C/-;CC;CCC;CCCC;CCCCC delins
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 2 2013 2017
dbSNP: rs794728468
rs794728468 		1.000 0.120 7 150947377 frameshift variant G/- delins
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 2 2005 2010
dbSNP: rs1554424070
rs1554424070 		1.000 0.120 7 150947378 frameshift variant CGCCGACCCGGGC/- delins
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 2 2006 2009
dbSNP: rs794728467
rs794728467 		7 150947380 frameshift variant -/CCGCC;CGCC delins
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.700 0
dbSNP: rs1554424079
rs1554424079 		1.000 0.120 7 150947381 frameshift variant -/GC delins
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs199473021
rs199473021 		1.000 0.120 7 150947383 missense variant G/A;T snv 1.3E-04; 6.9E-06
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 20 1995 2009