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: rs79891110
rs79891110
0.807 0.320 12 2504944 stop gained 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 0.710 1.000 12 2004 2016
dbSNP: rs786205748
rs786205748
1.000 0.120 12 2566465 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 0.710 1.000 2 2015 2019
dbSNP: rs750835733
rs750835733
1.000 0.120 12 2593252 missense variant C/G;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 0.710 1.000 1 2013 2013
dbSNP: rs587782933
rs587782933
0.827 0.200 12 2504526 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 6 2005 2016
dbSNP: rs1343191564
rs1343191564
1.000 0.120 12 2688616 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 0.010 1.000 1 2019 2019
dbSNP: rs377564636
rs377564636
1.000 0.120 12 2679529 missense variant G/A 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 0.010 1.000 1 2019 2019
dbSNP: rs749945590
rs749945590
1.000 0.120 12 2688601 missense variant G/A snv 1.2E-05 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 0.010 1.000 1 2019 2019
dbSNP: rs786205745
rs786205745
0.807 0.320 12 2504538 missense variant G/A;C snv
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2016 2016