rs199472815
|
0.851 |
0.120 |
11 |
2778024 |
missense variant |
G/A;C
|
snv
|
2.0E-05
|
|
Congenital long QT syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.700 |
1.000 |
11 |
2000 |
2014 |
rs199473456
|
0.882 |
0.120 |
11 |
2571394 |
missense variant |
C/T
|
snv
|
1.2E-05
|
|
Congenital long QT syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.700 |
1.000 |
11 |
1999 |
2014 |
rs199473394
|
0.925 |
0.120 |
11 |
2570685 |
missense variant |
G/A
|
snv
|
|
7.0E-06
|
Congenital long QT syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.700 |
1.000 |
9 |
2000 |
2018 |
rs199473411
|
0.882 |
0.120 |
11 |
2585275 |
missense variant |
C/A;T
|
snv
|
|
|
Congenital long QT syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.700 |
1.000 |
9 |
1997 |
2014 |
rs12720458
|
0.716 |
0.240 |
11 |
2585264 |
missense variant |
A/G
|
snv
|
4.0E-05
|
1.4E-05
|
Congenital long QT syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.700 |
1.000 |
8 |
2005 |
2016 |
rs397508118
|
0.851 |
0.120 |
11 |
2570720 |
frameshift variant |
GCGCT/-
|
delins
|
|
1.4E-05
|
Congenital long QT syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.700 |
1.000 |
6 |
1999 |
2015 |
rs151344631
|
0.827 |
0.200 |
11 |
2571333 |
missense variant |
G/A
|
snv
|
8.0E-06
|
3.5E-05
|
Congenital long QT syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.700 |
1.000 |
4 |
2008 |
2015 |
rs794728568
|
0.925 |
0.120 |
11 |
2570707 |
missense variant |
G/A;T
|
snv
|
|
|
Congenital long QT syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.700 |
1.000 |
3 |
2016 |
2016 |
rs397508091
|
0.925 |
0.120 |
11 |
2662080 |
stop gained |
C/T
|
snv
|
|
|
Congenital long QT syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.700 |
1.000 |
2 |
2009 |
2009 |
rs397508120
|
0.882 |
0.120 |
11 |
2570734 |
frameshift variant |
G/-
|
delins
|
|
|
Congenital long QT syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.700 |
1.000 |
2 |
2002 |
2009 |
rs120074186
|
0.851 |
0.120 |
11 |
2572979 |
stop gained |
G/A;C;T
|
snv
|
1.6E-05;
4.0E-06;
4.0E-06
|
|
Congenital long QT syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.700 |
1.000 |
1 |
2003 |
2003 |
rs794728565
|
0.882 |
0.120 |
11 |
2527943 |
frameshift variant |
G/-
|
delins
|
|
|
Congenital long QT syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.700 |
1.000 |
1 |
2009 |
2009 |
rs794728530
|
1.000 |
0.120 |
11 |
2768851 |
stop gained |
G/T
|
snv
|
|
|
Congenital long QT syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs12720459
|
0.807 |
0.160 |
11 |
2583535 |
missense variant |
C/A;G;T
|
snv
|
|
|
Congenital long QT syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.040 |
1.000 |
4 |
2005 |
2015 |
rs12720449
|
0.925 |
0.120 |
11 |
2588804 |
missense variant |
C/A;G;T
|
snv
|
7.2E-05;
7.5E-03;
2.0E-05
|
|
Congenital long QT syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.010 |
1.000 |
1 |
2004 |
2004 |
rs199472696
|
0.851 |
0.120 |
11 |
2570670 |
missense variant |
C/T
|
snv
|
4.0E-06
|
1.4E-05
|
Congenital long QT syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.010 |
1.000 |
1 |
2018 |
2018 |
rs199472719
|
0.882 |
0.120 |
11 |
2572104 |
missense variant |
C/T
|
snv
|
4.1E-06
|
|
Congenital long QT syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.010 |
1.000 |
1 |
2000 |
2000 |
rs199473447
|
1.000 |
0.120 |
11 |
2445412 |
missense variant |
A/T
|
snv
|
|
|
Congenital long QT syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.010 |
1.000 |
1 |
2006 |
2006 |