Disease: 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: rs199472815
rs199472815 		0.851 0.120 11 2778024 missense variant G/A;C snv 2.0E-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 1.000 16 2000 2014
dbSNP: rs199473456
rs199473456 		0.882 0.120 11 2571394 missense variant C/T snv 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 0.700 1.000 15 1999 2015
dbSNP: rs120074193
rs120074193 		0.807 0.120 11 2572870 missense variant G/A;C snv 4.0E-06
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 13 1997 2015
dbSNP: rs12720459
rs12720459 		0.807 0.160 11 2583535 missense variant C/A;G;T snv
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.770 1.000 13 1996 2019
dbSNP: rs120074189
rs120074189 		0.851 0.120 11 2778003 missense variant C/T snv
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.720 0.917 12 1998 2019
dbSNP: rs199472719
rs199472719 		0.882 0.120 11 2572104 missense variant C/T snv 4.1E-06
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 12 2000 2015
dbSNP: rs199472795
rs199472795 		0.807 0.120 11 2775984 missense variant C/T snv 7.0E-06
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.710 1.000 12 2000 2015
dbSNP: rs199473480
rs199473480 		0.925 0.120 11 2776006 stop gained C/A;T snv
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.710 1.000 12 2004 2016
dbSNP: rs120074179
rs120074179 		0.925 0.120 11 2572089 missense variant G/A;C;T snv
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.710 1.000 11 1996 2012
dbSNP: rs120074190
rs120074190 		0.882 0.120 11 2778009 missense variant G/A snv 4.8E-05 5.6E-05
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.730 1.000 11 1999 2017
dbSNP: rs199473411
rs199473411 		0.882 0.120 11 2585275 missense variant C/A;T snv
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 11 1997 2015
dbSNP: rs1060500621
rs1060500621 		1.000 0.120 11 2572846 missense variant GA/TT mnv
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 10 1999 2016
dbSNP: rs199472756
rs199472756 		0.925 0.120 11 2583486 missense variant G/A snv
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.710 1.000 9 2009 2016
dbSNP: rs199472776
rs199472776 		0.882 0.120 11 2587630 missense variant C/G;T snv 4.0E-06; 2.0E-04
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.710 1.000 9 2007 2015
dbSNP: rs199472805
rs199472805 		0.925 0.120 11 2777000 missense variant T/C;G snv
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 9 2005 2015
dbSNP: rs397508097
rs397508097 		0.807 0.120 11 2768917 stop gained C/T snv 2.8E-05 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 1.000 9 2001 2014
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: 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 8 1996 2014
dbSNP: rs17215500
rs17215500 		0.807 0.240 11 2768881 stop gained C/G;T snv 1.0E-04
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.720 1.000 8 1999 2015
dbSNP: rs199472696
rs199472696 		0.851 0.120 11 2570670 missense variant C/T snv 4.0E-06 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 1.000 8 1997 2013
dbSNP: rs199472800
rs199472800 		0.925 0.120 11 2776033 missense variant G/A;T snv 2.3E-05; 5.7E-06
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 8 1997 2014
dbSNP: rs179489
rs179489 		0.925 0.120 11 2570652 missense variant G/A;C snv 1.2E-05; 4.0E-06
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 7 1998 2015
dbSNP: rs199472687
rs199472687 		0.827 0.120 11 2527962 missense variant G/A snv
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 7 2005 2015
dbSNP: rs199472709
rs199472709 		0.790 0.120 11 2572021 missense variant G/A;T snv
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 7 2004 2015
dbSNP: rs199472713
rs199472713 		0.925 0.120 11 2572056 missense variant C/A;T snv 4.0E-06
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 7 1999 2015
dbSNP: rs199473460
rs199473460 		0.925 0.120 11 2572862 missense variant T/C;G snv
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.710 0.857 7 1993 2012