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: rs74315447
rs74315447
0.925 0.120 21 34370639 missense variant T/C snv 2.6E-04 2.3E-04
CUI: C3150953
Disease: Long Qt Syndrome 6
Long Qt Syndrome 6
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.800 1.000 4 1999 2009
dbSNP: rs74315448
rs74315448
1.000 0.120 21 34370648 missense variant T/C snv 1.1E-03 6.1E-04
CUI: C3150953
Disease: Long Qt Syndrome 6
Long Qt Syndrome 6
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.800 1.000 4 1999 2009
dbSNP: rs74315449
rs74315449
0.882 0.120 21 34370557 missense variant C/A;T snv 4.0E-06; 1.3E-04
CUI: C1862394
Disease: Atrial Fibrillation, Familial, 4
Atrial Fibrillation, Familial, 4
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.800 1.000 1 2004 2004
dbSNP: rs141423405
rs141423405
1.000 0.120 21 34370707 missense variant C/T snv 6.4E-05 4.2E-05
CUI: C3150953
Disease: Long Qt Syndrome 6
Long Qt Syndrome 6
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 4 1999 2009
dbSNP: rs199473363
rs199473363
1.000 0.120 21 34370537 missense variant T/A snv
CUI: C3150953
Disease: Long Qt Syndrome 6
Long Qt Syndrome 6
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 4 1999 2009
dbSNP: rs199473364
rs199473364
1.000 0.120 21 34370671 missense variant G/A;C snv 2.0E-05; 2.4E-05
CUI: C3150953
Disease: Long Qt Syndrome 6
Long Qt Syndrome 6
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 4 1999 2009
dbSNP: rs199473365
rs199473365
1.000 0.120 21 34370708 missense variant G/A snv 8.0E-06 7.0E-06
CUI: C3150953
Disease: Long Qt Syndrome 6
Long Qt Syndrome 6
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 4 1999 2009
dbSNP: rs74424227
rs74424227
1.000 0.120 21 34370759 missense variant A/G snv 1.0E-04 2.1E-05
CUI: C3150953
Disease: Long Qt Syndrome 6
Long Qt Syndrome 6
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 4 1999 2009
dbSNP: rs10854373
rs10854373
21 34366284 intron variant C/G;T snv
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs13048252
rs13048252
21 34363867 intron variant G/A snv 0.51
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs74315449
rs74315449
0.882 0.120 21 34370557 missense variant C/A;T snv 4.0E-06; 1.3E-04
CUI: C3150953
Disease: Long Qt Syndrome 6
Long Qt Syndrome 6
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 1 2004 2004
dbSNP: rs142153692
rs142153692
1.000 0.120 21 34370518 missense variant G/A;C snv 1.9E-04; 4.0E-06
CUI: C3150953
Disease: Long Qt Syndrome 6
Long Qt Syndrome 6
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs148968498
rs148968498
1.000 0.120 21 34370558 missense variant G/A snv 6.4E-05 2.4E-04
CUI: C3150953
Disease: Long Qt Syndrome 6
Long Qt Syndrome 6
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs16991654
rs16991654
0.925 0.120 21 34370656 missense variant T/A;C snv 4.0E-06
CUI: C3150953
Disease: Long Qt Syndrome 6
Long Qt Syndrome 6
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs16991654
rs16991654
0.925 0.120 21 34370656 missense variant T/A;C snv 4.0E-06
LONG QT SYNDROME 3/6, DIGENIC Disorder
0.700 0
dbSNP: rs74315447
rs74315447
0.925 0.120 21 34370639 missense variant T/C snv 2.6E-04 2.3E-04
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.700 0
dbSNP: rs199473364
rs199473364
1.000 0.120 21 34370671 missense variant G/A;C snv 2.0E-05; 2.4E-05
CUI: C0340464
Disease: Premature Cardiac Complex
Premature Cardiac Complex
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2002 2002
dbSNP: rs199473648
rs199473648
1.000 0.080 21 34370507 missense variant C/T snv 2.5E-04 2.4E-04
CUI: C0020598
Disease: Hypocalcemia
Hypocalcemia
Nutritional and Metabolic Diseases 0.010 1.000 1 2008 2008
dbSNP: rs199473648
rs199473648
1.000 0.080 21 34370507 missense variant C/T snv 2.5E-04 2.4E-04
CUI: C0151723
Disease: Hypomagnesemia
Hypomagnesemia
Nutritional and Metabolic Diseases 0.010 1.000 1 2008 2008
dbSNP: rs199473648
rs199473648
1.000 0.080 21 34370507 missense variant C/T snv 2.5E-04 2.4E-04
CUI: C0232197
Disease: Fibrillation
Fibrillation
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2008 2008
dbSNP: rs199473648
rs199473648
1.000 0.080 21 34370507 missense variant C/T snv 2.5E-04 2.4E-04
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2008 2008
dbSNP: rs74315447
rs74315447
0.925 0.120 21 34370639 missense variant T/C snv 2.6E-04 2.3E-04
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2013 2013
dbSNP: rs74315449
rs74315449
0.882 0.120 21 34370557 missense variant C/A;T snv 4.0E-06; 1.3E-04
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2004 2004