Disease: Congenital long QT syndrome ×
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: rs137854601
rs137854601 		0.776 0.120 3 38551022 stop gained C/A;T snv 4.0E-06
CUI: C1141890
Disease: Congenital long QT syndrome
Congenital long QT syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 7 1999 2014
dbSNP: rs794728879
rs794728879 		0.925 0.120 3 38560146 splice donor variant C/A;G;T snv
CUI: C1141890
Disease: Congenital long QT syndrome
Congenital long QT syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 1 2013 2013
dbSNP: rs794728846
rs794728846 		0.925 0.120 3 38620972 splice acceptor variant C/T snv
CUI: C1141890
Disease: Congenital long QT syndrome
Congenital long QT syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs1480085793
rs1480085793 		1.000 0.120 3 38620919 stop gained G/A snv 4.0E-06
CUI: C1141890
Disease: Congenital long QT syndrome
Congenital long QT syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2007 2007
dbSNP: rs199473051
rs199473051 		0.925 0.120 3 38633058 missense variant C/T snv
CUI: C1141890
Disease: Congenital long QT syndrome
Congenital long QT syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 < 0.001 1 2013 2013
dbSNP: rs199473103
rs199473103 		0.925 0.120 3 38606102 missense variant A/G snv
CUI: C1141890
Disease: Congenital long QT syndrome
Congenital long QT syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2008 2008
dbSNP: rs199473225
rs199473225 		0.851 0.120 3 38560397 missense variant G/A;C snv
CUI: C1141890
Disease: Congenital long QT syndrome
Congenital long QT syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs199473317
rs199473317 		0.882 0.120 3 38551003 missense variant T/C snv
CUI: C1141890
Disease: Congenital long QT syndrome
Congenital long QT syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2000 2000
dbSNP: rs199473631
rs199473631 		0.925 0.120 3 38551085 missense variant C/T snv
CUI: C1141890
Disease: Congenital long QT syndrome
Congenital long QT syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2004 2004
dbSNP: rs770088052
rs770088052 		1.000 0.120 3 38581182 missense variant C/A;T snv 4.2E-06; 8.4E-06
CUI: C1141890
Disease: Congenital long QT syndrome
Congenital long QT syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2016 2016
dbSNP: rs780405533
rs780405533 		1.000 0.120 3 38560221 stop gained C/A;T snv 3.6E-05 2.1E-05
CUI: C1141890
Disease: Congenital long QT syndrome
Congenital long QT syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2018 2018