rs12720458
|
0.716 |
0.240 |
11 |
2585264 |
missense variant |
A/G
|
snv
|
4.0E-05
|
1.4E-05
|
Long QT Syndrome 1
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.800 |
1.000 |
1 |
2013 |
2013 |
rs199472709
|
0.790 |
0.120 |
11 |
2572021 |
missense variant |
G/A;T
|
snv
|
|
|
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 |
rs120074193
|
0.807 |
0.120 |
11 |
2572870 |
missense variant |
G/A;C
|
snv
|
4.0E-06
|
|
Long QT Syndrome 1
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.810 |
1.000 |
26 |
1996 |
2017 |
rs199472795
|
0.807 |
0.120 |
11 |
2775984 |
missense variant |
C/T
|
snv
|
|
7.0E-06
|
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 |
rs12720459
|
0.807 |
0.160 |
11 |
2583535 |
missense variant |
C/A;G;T
|
snv
|
|
|
Long QT Syndrome 1
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.850 |
1.000 |
10 |
2005 |
2017 |
rs17215500
|
0.807 |
0.240 |
11 |
2768881 |
stop gained |
C/G;T
|
snv
|
1.0E-04
|
|
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 |
rs17221854
|
0.807 |
0.120 |
11 |
2777990 |
missense variant |
C/T
|
snv
|
1.6E-05
|
|
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 |
rs397508097
|
0.807 |
0.120 |
11 |
2768917 |
stop gained |
C/T
|
snv
|
2.8E-05
|
1.4E-05
|
Long QT Syndrome 1
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.710 |
1.000 |
1 |
2012 |
2012 |
rs199473457
|
0.827 |
0.200 |
11 |
2572020 |
missense variant |
C/A;T
|
snv
|
|
|
Long QT Syndrome 1
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.810 |
1.000 |
27 |
1996 |
2015 |
rs151344631
|
0.827 |
0.200 |
11 |
2571333 |
missense variant |
G/A
|
snv
|
8.0E-06
|
3.5E-05
|
Long QT Syndrome 1
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.710 |
1.000 |
1 |
2014 |
2014 |
rs199472755
|
0.851 |
0.120 |
11 |
2583478 |
missense variant |
C/A;G;T
|
snv
|
4.0E-06
|
|
Long QT Syndrome 1
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.810 |
1.000 |
25 |
1996 |
2017 |
rs120074189
|
0.851 |
0.120 |
11 |
2778003 |
missense variant |
C/T
|
snv
|
|
|
Long QT Syndrome 1
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.700 |
1.000 |
20 |
1996 |
2015 |
rs199472815
|
0.851 |
0.120 |
11 |
2778024 |
missense variant |
G/A;C
|
snv
|
2.0E-05
|
|
Long QT Syndrome 1
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.700 |
1.000 |
20 |
1996 |
2015 |
rs120074186
|
0.851 |
0.120 |
11 |
2572979 |
stop gained |
G/A;C;T
|
snv
|
1.6E-05;
4.0E-06;
4.0E-06
|
|
Long QT Syndrome 1
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs199472696
|
0.851 |
0.120 |
11 |
2570670 |
missense variant |
C/T
|
snv
|
4.0E-06
|
1.4E-05
|
Long QT Syndrome 1
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs397508118
|
0.851 |
0.120 |
11 |
2570720 |
frameshift variant |
GCGCT/-
|
delins
|
|
1.4E-05
|
Long QT Syndrome 1
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs199472719
|
0.882 |
0.120 |
11 |
2572104 |
missense variant |
C/T
|
snv
|
4.1E-06
|
|
Long QT Syndrome 1
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.800 |
1.000 |
25 |
1996 |
2017 |
rs120074187
|
0.882 |
0.120 |
11 |
2572963 |
missense variant |
G/A
|
snv
|
4.8E-05
|
2.1E-05
|
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 |
rs199472702
|
0.882 |
0.120 |
11 |
2570754 |
missense variant |
G/A;C
|
snv
|
8.1E-06
|
|
Long QT Syndrome 1
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.710 |
1.000 |
21 |
1996 |
2015 |
rs120074190
|
0.882 |
0.120 |
11 |
2778009 |
missense variant |
G/A
|
snv
|
4.8E-05
|
5.6E-05
|
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 |
rs120074196
|
0.882 |
0.120 |
11 |
2572057 |
missense variant |
G/A;C
|
snv
|
4.0E-06
|
|
Long QT Syndrome 1
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.700 |
1.000 |
20 |
1996 |
2015 |
rs143709408
|
0.882 |
0.200 |
11 |
2527999 |
missense variant |
C/T
|
snv
|
1.6E-04
|
3.6E-04
|
Long QT Syndrome 1
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.700 |
1.000 |
20 |
1996 |
2015 |
rs199472712
|
0.882 |
0.120 |
11 |
2572053 |
missense variant |
G/A;T
|
snv
|
4.0E-06
|
|
Long QT Syndrome 1
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.700 |
1.000 |
20 |
1996 |
2015 |
rs199472730
|
0.882 |
0.120 |
11 |
2572895 |
missense variant |
C/G;T
|
snv
|
|
|
Long QT Syndrome 1
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.700 |
1.000 |
20 |
1996 |
2015 |
rs199472776
|
0.882 |
0.120 |
11 |
2587630 |
missense variant |
C/G;T
|
snv
|
4.0E-06;
2.0E-04
|
|
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 |