Disease: Long QT Syndrome 1 ×
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: rs12720459
rs12720459 		0.807 0.160 11 2583535 missense variant C/A;G;T snv
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.850 1.000 10 2005 2017
dbSNP: rs199473457
rs199473457 		0.827 0.200 11 2572020 missense variant C/A;T snv
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.810 1.000 27 1996 2015
dbSNP: rs120074193
rs120074193 		0.807 0.120 11 2572870 missense variant G/A;C snv 4.0E-06
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.810 1.000 26 1996 2017
dbSNP: rs120074191
rs120074191 		0.925 0.120 11 2445448 missense variant C/T snv
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.810 1.000 25 1996 2017
dbSNP: rs199472755
rs199472755 		0.851 0.120 11 2583478 missense variant C/A;G;T snv 4.0E-06
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.810 1.000 25 1996 2017
dbSNP: rs199472804
rs199472804 		0.925 0.120 11 2776997 missense variant C/A;T snv
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.810 1.000 23 1996 2019
dbSNP: rs120074178
rs120074178 		0.925 0.120 11 2570719 missense variant G/A;C;T snv 4.0E-06; 4.0E-06; 1.6E-05
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.810 1.000 22 1996 2015
dbSNP: rs120074184
rs120074184 		0.925 0.120 11 2583453 missense variant G/A;C;T snv
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.800 1.000 25 1996 2017
dbSNP: rs199472719
rs199472719 		0.882 0.120 11 2572104 missense variant C/T snv 4.1E-06
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.800 1.000 25 1996 2017
dbSNP: rs199472759
rs199472759 		0.925 0.120 11 2583529 missense variant T/A;C snv
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.800 1.000 25 1996 2017
dbSNP: rs74462309
rs74462309 		0.925 0.120 11 2583457 missense variant A/C;G;T snv
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.800 1.000 25 1996 2017
dbSNP: rs104894252
rs104894252 		1.000 0.120 11 2570715 missense variant G/A;C snv
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.800 1.000 24 1996 2017
dbSNP: rs120074177
rs120074177 		0.925 0.120 11 2570682 missense variant G/A;C snv 4.0E-06
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.800 1.000 24 1996 2017
dbSNP: rs120074182
rs120074182 		1.000 0.120 11 2583448 missense variant C/T snv
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.800 1.000 24 1996 2017
dbSNP: rs120074183
rs120074183 		1.000 0.120 11 2585213 missense variant G/A snv 1.4E-05
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.800 1.000 24 1996 2017
dbSNP: rs120074187
rs120074187 		0.882 0.120 11 2572963 missense variant G/A snv 4.8E-05 2.1E-05
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.800 1.000 24 1996 2017
dbSNP: rs193922365
rs193922365 		0.925 0.120 11 2572970 missense variant C/A;T snv 4.0E-06
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.800 1.000 24 1996 2017
dbSNP: rs199472737
rs199472737 		1.000 0.120 11 2572942 missense variant C/T snv 3.6E-05 2.1E-05
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.800 1.000 24 1996 2017
dbSNP: rs199473442
rs199473442 		1.000 0.120 11 2445103 missense variant C/G;T snv
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.800 1.000 24 1996 2017
dbSNP: rs199473443
rs199473443 		1.000 0.120 11 2445117 missense variant C/T snv 1.7E-04
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.800 1.000 24 1996 2017
dbSNP: rs199472794
rs199472794 		1.000 0.120 11 2775985 missense variant G/A;C snv
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.800 1.000 22 1996 2015
dbSNP: rs120074179
rs120074179 		0.925 0.120 11 2572089 missense variant G/A;C;T snv
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.800 1.000 20 1996 2015
dbSNP: rs120074180
rs120074180 		1.000 0.120 11 2572882 missense variant C/G;T snv 4.0E-06
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.800 1.000 20 1996 2015
dbSNP: rs120074181
rs120074181 		0.925 0.120 11 2572981 missense variant G/A;C snv
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.800 1.000 20 1996 2015
dbSNP: rs120074185
rs120074185 		0.925 0.120 11 2776032 missense variant C/A;T snv 1.1E-05; 1.1E-05
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.800 1.000 20 1996 2015