Disease: Short QT Syndrome 3 ×
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: rs104894584
rs104894584 		0.851 0.120 17 70175553 missense variant G/A snv
CUI: C1865018
Disease: Short QT Syndrome 3
Short QT Syndrome 3 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.820 1.000 3 2005 2017
dbSNP: rs104894578
rs104894578 		0.807 0.280 17 70175691 missense variant C/T snv
CUI: C1865018
Disease: Short QT Syndrome 3
Short QT Syndrome 3 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 10 2001 2014
dbSNP: rs199473377
rs199473377 		0.925 0.120 17 70175470 missense variant G/A;C snv
CUI: C1865018
Disease: Short QT Syndrome 3
Short QT Syndrome 3 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 8 2001 2013
dbSNP: rs104894580
rs104894580 		0.790 0.240 17 70175238 missense variant C/A;T snv 4.0E-06
CUI: C1865018
Disease: Short QT Syndrome 3
Short QT Syndrome 3 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 6 2002 2013
dbSNP: rs104894585
rs104894585 		0.851 0.120 17 70175263 missense variant C/G;T snv
CUI: C1865018
Disease: Short QT Syndrome 3
Short QT Syndrome 3 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 6 2005 2015
dbSNP: rs199473373
rs199473373 		0.882 0.120 17 70175283 missense variant C/T snv
CUI: C1865018
Disease: Short QT Syndrome 3
Short QT Syndrome 3 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 6 2005 2013
dbSNP: rs199473384
rs199473384 		0.925 0.120 17 70175692 missense variant G/A;C;T snv
CUI: C1865018
Disease: Short QT Syndrome 3
Short QT Syndrome 3 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 5 2001 2007
dbSNP: rs199473653
rs199473653 		0.925 0.120 17 70175284 missense variant G/A snv
CUI: C1865018
Disease: Short QT Syndrome 3
Short QT Syndrome 3 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 4 2005 2017
dbSNP: rs1567823248
rs1567823248 		0.925 0.120 17 70176140 frameshift variant C/- delins
CUI: C1865018
Disease: Short QT Syndrome 3
Short QT Syndrome 3 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 1 2011 2011