rs12720459
|
0.807 |
0.160 |
11 |
2583535 |
missense variant |
C/A;G;T
|
snv
|
|
|
Long QT Syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.770 |
1.000 |
13 |
1996 |
2019 |
rs120074190
|
0.882 |
0.120 |
11 |
2778009 |
missense variant |
G/A
|
snv
|
4.8E-05
|
5.6E-05
|
Long QT Syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.730 |
1.000 |
11 |
1999 |
2017 |
rs151344631
|
0.827 |
0.200 |
11 |
2571333 |
missense variant |
G/A
|
snv
|
8.0E-06
|
3.5E-05
|
Long QT Syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.730 |
1.000 |
6 |
2008 |
2018 |
rs120074189
|
0.851 |
0.120 |
11 |
2778003 |
missense variant |
C/T
|
snv
|
|
|
Long QT Syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.720 |
0.917 |
12 |
1998 |
2019 |
rs17215500
|
0.807 |
0.240 |
11 |
2768881 |
stop gained |
C/G;T
|
snv
|
1.0E-04
|
|
Long QT Syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.720 |
1.000 |
8 |
1999 |
2015 |
rs199472795
|
0.807 |
0.120 |
11 |
2775984 |
missense variant |
C/T
|
snv
|
|
7.0E-06
|
Long QT Syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.710 |
1.000 |
12 |
2000 |
2015 |
rs199473480
|
0.925 |
0.120 |
11 |
2776006 |
stop gained |
C/A;T
|
snv
|
|
|
Long QT Syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.710 |
1.000 |
12 |
2004 |
2016 |
rs120074179
|
0.925 |
0.120 |
11 |
2572089 |
missense variant |
G/A;C;T
|
snv
|
|
|
Long QT Syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.710 |
1.000 |
11 |
1996 |
2012 |
rs199472756
|
0.925 |
0.120 |
11 |
2583486 |
missense variant |
G/A
|
snv
|
|
|
Long QT Syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.710 |
1.000 |
9 |
2009 |
2016 |
rs199472776
|
0.882 |
0.120 |
11 |
2587630 |
missense variant |
C/G;T
|
snv
|
4.0E-06;
2.0E-04
|
|
Long QT Syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.710 |
1.000 |
9 |
2007 |
2015 |
rs199473460
|
0.925 |
0.120 |
11 |
2572862 |
missense variant |
T/C;G
|
snv
|
|
|
Long QT Syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.710 |
0.857 |
7 |
1993 |
2012 |
rs794728562
|
1.000 |
0.120 |
11 |
2776985 |
splice acceptor variant |
G/-
|
delins
|
|
|
Long QT Syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.710 |
1.000 |
5 |
1999 |
2018 |
rs1064795333
|
1.000 |
0.120 |
11 |
2528005 |
frameshift variant |
CT/-
|
delins
|
|
|
Long QT Syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.710 |
1.000 |
1 |
2014 |
2014 |
rs120074184
|
0.925 |
0.120 |
11 |
2583453 |
missense variant |
G/A;C;T
|
snv
|
|
|
Long QT Syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.710 |
1.000 |
1 |
2009 |
2009 |
rs120074185
|
0.925 |
0.120 |
11 |
2776032 |
missense variant |
C/A;T
|
snv
|
1.1E-05;
1.1E-05
|
|
Long QT Syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.710 |
1.000 |
1 |
2005 |
2005 |
rs193922365
|
0.925 |
0.120 |
11 |
2572970 |
missense variant |
C/A;T
|
snv
|
4.0E-06
|
|
Long QT Syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.710 |
1.000 |
1 |
2015 |
2015 |
rs199472730
|
0.882 |
0.120 |
11 |
2572895 |
missense variant |
C/G;T
|
snv
|
|
|
Long QT Syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.710 |
1.000 |
1 |
2011 |
2011 |
rs199472765
|
0.925 |
0.120 |
11 |
2585225 |
stop gained |
C/A;G
|
snv
|
|
|
Long QT Syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.710 |
1.000 |
1 |
2011 |
2011 |
rs199473479
|
0.925 |
0.120 |
11 |
2768888 |
missense variant |
T/G
|
snv
|
|
|
Long QT Syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.710 |
1.000 |
1 |
2007 |
2007 |
rs199472815
|
0.851 |
0.120 |
11 |
2778024 |
missense variant |
G/A;C
|
snv
|
2.0E-05
|
|
Long QT Syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.700 |
1.000 |
16 |
2000 |
2014 |
rs199473456
|
0.882 |
0.120 |
11 |
2571394 |
missense variant |
C/T
|
snv
|
1.2E-05
|
|
Long QT Syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.700 |
1.000 |
15 |
1999 |
2015 |
rs120074193
|
0.807 |
0.120 |
11 |
2572870 |
missense variant |
G/A;C
|
snv
|
4.0E-06
|
|
Long QT Syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.700 |
1.000 |
13 |
1997 |
2015 |
rs199472719
|
0.882 |
0.120 |
11 |
2572104 |
missense variant |
C/T
|
snv
|
4.1E-06
|
|
Long QT Syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.700 |
1.000 |
12 |
2000 |
2015 |
rs199473411
|
0.882 |
0.120 |
11 |
2585275 |
missense variant |
C/A;T
|
snv
|
|
|
Long QT Syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.700 |
1.000 |
11 |
1997 |
2015 |
rs1060500621
|
1.000 |
0.120 |
11 |
2572846 |
missense variant |
GA/TT
|
mnv
|
|
|
Long QT Syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.700 |
1.000 |
10 |
1999 |
2016 |