Disease: Short QT Syndrome 1 ×
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: rs104894021
rs104894021 		0.851 0.120 7 150951629 missense variant G/C;T snv
CUI: C1865020
Disease: Short QT Syndrome 1
Short QT Syndrome 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.800 1.000 2 2004 2005
dbSNP: rs199473428
rs199473428 		0.851 0.120 7 150951643 missense variant C/A;G;T snv 8.0E-06
CUI: C1865020
Disease: Short QT Syndrome 1
Short QT Syndrome 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 4 1999 2012
dbSNP: rs199472885
rs199472885 		0.925 0.120 7 150957485 missense variant G/A snv 1.0E-04 8.4E-05
CUI: C1865020
Disease: Short QT Syndrome 1
Short QT Syndrome 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs199472957
rs199472957 		0.882 0.120 7 150951507 missense variant T/A;C;G snv
CUI: C1865020
Disease: Short QT Syndrome 1
Short QT Syndrome 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs794728382
rs794728382 		0.925 0.120 7 150950962 stop gained G/A snv
CUI: C1865020
Disease: Short QT Syndrome 1
Short QT Syndrome 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs972201049
rs972201049 		0.925 0.120 7 150955481 missense variant G/A snv 3.3E-05 2.1E-05
CUI: C1865020
Disease: Short QT Syndrome 1
Short QT Syndrome 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0