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: 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: 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: 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: rs199472918
rs199472918
0.882 0.120 7 150951738 missense variant A/G snv 7.2E-05 5.6E-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 29 1995 2017
dbSNP: rs199472902
rs199472902
1.000 0.120 7 150952630 missense variant G/A snv 2.4E-05 1.4E-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 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: rs121912512
rs121912512
0.882 0.120 7 150950311 missense variant C/T snv 4.0E-06 1.4E-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: 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: 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: 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: 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: 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: rs121912506
rs121912506
0.925 0.120 7 150948984 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 0.800 1.000 20 1995 2009
dbSNP: rs121912508
rs121912508
0.925 0.120 7 150951649 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 20 1995 2009
dbSNP: rs121912510
rs121912510
0.925 0.120 7 150948995 missense variant G/A snv 4.0E-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 20 1995 2009
dbSNP: rs121912511
rs121912511
0.925 0.120 7 150974825 missense variant T/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 20 1995 2009
dbSNP: rs121912513
rs121912513
1.000 0.120 7 150948866 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 20 1995 2009
dbSNP: rs121912516
rs121912516
0.882 0.120 7 150951721 missense variant 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 20 1995 2009