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: rs199472737
rs199472737 		1.000 0.120 11 2572942 missense variant C/T snv 3.6E-05 2.1E-05
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.800 1.000 24 1996 2017
dbSNP: rs199473442
rs199473442 		1.000 0.120 11 2445103 missense variant C/G;T snv
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.800 1.000 24 1996 2017
dbSNP: rs199473443
rs199473443 		1.000 0.120 11 2445117 missense variant C/T snv 1.7E-04
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.800 1.000 24 1996 2017
dbSNP: rs199472794
rs199472794 		1.000 0.120 11 2775985 missense variant G/A;C snv
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.800 1.000 22 1996 2015
dbSNP: rs120074179
rs120074179 		0.925 0.120 11 2572089 missense variant G/A;C;T snv
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.800 1.000 20 1996 2015
dbSNP: rs120074180
rs120074180 		1.000 0.120 11 2572882 missense variant C/G;T snv 4.0E-06
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.800 1.000 20 1996 2015
dbSNP: rs120074181
rs120074181 		0.925 0.120 11 2572981 missense variant G/A;C snv
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.800 1.000 20 1996 2015
dbSNP: rs120074185
rs120074185 		0.925 0.120 11 2776032 missense variant C/A;T snv 1.1E-05; 1.1E-05
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.800 1.000 20 1996 2015
dbSNP: rs120074190
rs120074190 		0.882 0.120 11 2778009 missense variant G/A snv 4.8E-05 5.6E-05
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.800 1.000 20 1996 2015
dbSNP: rs120074194
rs120074194 		0.925 0.120 11 2572871 missense variant G/A;T snv
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.800 1.000 20 1996 2015
dbSNP: rs199472709
rs199472709 		0.790 0.120 11 2572021 missense variant G/A;T snv
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.800 1.000 20 1996 2015
dbSNP: rs199472720
rs199472720 		0.925 0.120 11 2572105 missense variant G/A;T snv 1.6E-05
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.800 1.000 20 1996 2015
dbSNP: rs199472776
rs199472776 		0.882 0.120 11 2587630 missense variant C/G;T snv 4.0E-06; 2.0E-04
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.800 1.000 20 1996 2015
dbSNP: rs199472795
rs199472795 		0.807 0.120 11 2775984 missense variant C/T snv 7.0E-06
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.800 1.000 20 1996 2015
dbSNP: rs199472814
rs199472814 		1.000 0.120 11 2778015 missense variant G/A;T snv
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.800 1.000 20 1996 2015
dbSNP: rs199472821
rs199472821 		1.000 0.120 11 2847848 missense variant G/A snv 1.1E-05 1.4E-05
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.800 1.000 20 1996 2015
dbSNP: rs199473411
rs199473411 		0.882 0.120 11 2585275 missense variant C/A;T snv
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.800 1.000 20 1996 2015
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: C4551509
Disease: Jervell And Lange-Nielsen Syndrome 1
Jervell And Lange-Nielsen Syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.800 1.000 6 1998 2015
dbSNP: rs120074190
rs120074190 		0.882 0.120 11 2778009 missense variant G/A snv 4.8E-05 5.6E-05
CUI: C4551509
Disease: Jervell And Lange-Nielsen Syndrome 1
Jervell And Lange-Nielsen Syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.800 1.000 6 1998 2015
dbSNP: rs17215500
rs17215500 		0.807 0.240 11 2768881 stop gained C/G;T snv 1.0E-04
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.800 1.000 5 2011 2017
dbSNP: rs147445322
rs147445322 		0.882 0.120 11 2847803 missense variant G/A;T snv 7.2E-05; 5.5E-06
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.800 1.000 4 2011 2017
dbSNP: rs17221854
rs17221854 		0.807 0.120 11 2777990 missense variant C/T snv 1.6E-05
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.800 1.000 4 2011 2017
dbSNP: rs2074238
rs2074238 		1.000 0.120 11 2463573 intron variant T/A;C snv
CUI: C0429028
Disease: QT interval feature (observable entity)
QT interval feature (observable entity) 		0.800 1.000 4 2009 2019
dbSNP: rs12296050
rs12296050 		11 2468112 intron variant C/T snv 0.32
CUI: C0429028
Disease: QT interval feature (observable entity)
QT interval feature (observable entity) 		0.800 1.000 3 2009 2019
dbSNP: rs16928297
rs16928297 		11 2464890 intron variant T/G snv 0.33
CUI: C0429028
Disease: QT interval feature (observable entity)
QT interval feature (observable entity) 		0.800 1.000 2 2009 2019