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: rs199472936
rs199472936 		0.882 0.120 7 150951592 missense variant C/A;T snv
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.830 1.000 32 1995 2017
dbSNP: rs199472944
rs199472944 		0.882 0.120 7 150951552 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 30 1997 2015
dbSNP: rs121912505
rs121912505 		1.000 0.120 7 150952574 missense variant T/C snv
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.810 1.000 25 1995 2017
dbSNP: rs199472944
rs199472944 		0.882 0.120 7 150951552 missense variant G/A snv
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.800 1.000 25 1995 2009
dbSNP: rs199473005
rs199473005 		0.925 0.120 7 150948939 missense variant C/A;T snv
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.800 1.000 25 1995 2017
dbSNP: rs199472833
rs199472833 		1.000 0.120 7 150974926 missense variant A/C;G;T snv
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.800 1.000 24 1995 2017
dbSNP: rs199472865
rs199472865 		1.000 0.120 7 150959598 missense variant C/A;G snv 4.0E-06; 2.8E-05
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 24 1995 2017
dbSNP: rs199472881
rs199472881 		1.000 0.120 7 150958103 missense variant A/C;G snv
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 24 1995 2017
dbSNP: rs199472893
rs199472893 		1.000 0.120 7 150952744 missense variant A/C;G snv
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.800 1.000 24 1995 2017
dbSNP: rs199472953
rs199472953 		1.000 0.120 7 150951517 missense variant C/T snv
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.800 1.000 24 1995 2017
dbSNP: rs199472957
rs199472957 		0.882 0.120 7 150951507 missense variant T/A;C;G snv
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.800 1.000 24 1995 2017
dbSNP: rs199472958
rs199472958 		0.925 0.120 7 150951505 missense variant C/G;T snv 2.0E-05
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.800 1.000 24 1995 2017
dbSNP: rs199473004
rs199473004 		0.925 0.120 7 150948938 missense variant T/C snv
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.800 1.000 24 1995 2017
dbSNP: rs199473006
rs199473006 		1.000 0.120 7 150948912 missense variant G/A;C;T snv
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 24 1995 2017
dbSNP: rs199473428
rs199473428 		0.851 0.120 7 150951643 missense variant C/A;G;T snv 8.0E-06
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.800 1.000 24 1995 2012
dbSNP: rs199473668
rs199473668 		1.000 0.120 7 150948455 missense variant C/A;G;T snv 4.1E-06; 9.0E-05
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 24 1995 2017
dbSNP: rs199472995
rs199472995 		1.000 0.120 7 150950246 missense variant C/A snv
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.800 1.000 23 1995 2012
dbSNP: rs36210422
rs36210422 		0.882 0.120 7 150958449 missense variant G/A;C snv 3.2E-04
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.800 1.000 23 1995 2012
dbSNP: rs121912507
rs121912507 		0.882 0.120 7 150951511 missense variant C/G;T snv
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.820 1.000 22 1995 2019
dbSNP: rs199473529
rs199473529 		1.000 0.120 7 150951475 missense variant A/C;G snv
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.720 1.000 22 1995 2009
dbSNP: rs121912504
rs121912504 		0.851 0.200 7 150951711 missense variant G/A snv
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.810 1.000 21 1995 2014
dbSNP: rs199472970
rs199472970 		1.000 0.120 7 150951473 missense variant G/C;T snv
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.800 1.000 21 1995 2016
dbSNP: rs199472999
rs199472999 		0.925 0.120 7 150949034 missense variant A/C;G snv
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.710 1.000 21 1995 2009
dbSNP: rs199473522
rs199473522 		0.882 0.120 7 150951583 missense variant C/T snv
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.710 1.000 21 1995 2017
dbSNP: rs199473545
rs199473545 		1.000 0.120 7 150946929 missense variant G/A;C snv 3.3E-05; 4.1E-06
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.710 1.000 21 1995 2016