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: 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 11 2000 2014
dbSNP: rs199473456
rs199473456
0.882 0.120 11 2571394 missense variant C/T snv 1.2E-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 0.700 1.000 11 1999 2014
dbSNP: rs199473394
rs199473394
0.925 0.120 11 2570685 missense variant G/A snv 7.0E-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 9 2000 2018
dbSNP: rs199473411
rs199473411
0.882 0.120 11 2585275 missense variant C/A;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 9 1997 2014
dbSNP: rs12720458
rs12720458
0.716 0.240 11 2585264 missense variant A/G snv 4.0E-05 1.4E-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 0.700 1.000 8 2005 2016
dbSNP: rs397508118
rs397508118
0.851 0.120 11 2570720 frameshift variant GCGCT/- delins 1.4E-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 0.700 1.000 6 1999 2015
dbSNP: rs151344631
rs151344631
0.827 0.200 11 2571333 missense variant G/A snv 8.0E-06 3.5E-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 0.700 1.000 4 2008 2015
dbSNP: rs794728568
rs794728568
0.925 0.120 11 2570707 missense variant G/A;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 3 2016 2016
dbSNP: rs397508091
rs397508091
0.925 0.120 11 2662080 stop gained 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 1.000 2 2009 2009
dbSNP: rs397508120
rs397508120
0.882 0.120 11 2570734 frameshift variant G/- delins
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 2 2002 2009
dbSNP: rs120074186
rs120074186
0.851 0.120 11 2572979 stop gained G/A;C;T snv 1.6E-05; 4.0E-06; 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 1 2003 2003
dbSNP: rs794728565
rs794728565
0.882 0.120 11 2527943 frameshift variant G/- delins
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 2009 2009
dbSNP: rs794728530
rs794728530
1.000 0.120 11 2768851 stop gained 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 0
dbSNP: rs12720459
rs12720459
0.807 0.160 11 2583535 missense 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 0.040 1.000 4 2005 2015
dbSNP: rs12720449
rs12720449
0.925 0.120 11 2588804 missense variant C/A;G;T snv 7.2E-05; 7.5E-03; 2.0E-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 2004 2004
dbSNP: rs199472696
rs199472696
0.851 0.120 11 2570670 missense variant C/T snv 4.0E-06 1.4E-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
dbSNP: rs199472719
rs199472719
0.882 0.120 11 2572104 missense variant C/T snv 4.1E-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 2000 2000
dbSNP: rs199473447
rs199473447
1.000 0.120 11 2445412 missense variant A/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 2006 2006