rs199472712
|
0.882 |
0.120 |
11 |
2572053 |
missense variant |
G/A;T
|
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 |
3 |
1998 |
2015 |
rs199473451
|
0.925 |
0.120 |
11 |
2527971 |
missense variant |
A/G
|
snv
|
|
|
Long QT Syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.700 |
1.000 |
3 |
2003 |
2007 |
rs397508075
|
1.000 |
0.120 |
11 |
2585254 |
stop gained |
C/T
|
snv
|
|
|
Long QT Syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.700 |
1.000 |
3 |
2009 |
2013 |
rs397508087
|
1.000 |
0.120 |
11 |
2588799 |
frameshift variant |
C/-;CC
|
delins
|
|
|
Long QT Syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.700 |
1.000 |
3 |
2003 |
2016 |
rs397508133
|
1.000 |
0.120 |
11 |
2583433 |
splice acceptor variant |
A/C;G
|
snv
|
|
|
Long QT Syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.700 |
1.000 |
3 |
1997 |
2016 |
rs794728568
|
0.925 |
0.120 |
11 |
2570707 |
missense variant |
G/A;T
|
snv
|
|
|
Long QT Syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.700 |
1.000 |
3 |
2012 |
2016 |
rs1564820372
|
1.000 |
0.120 |
11 |
2571324 |
splice acceptor variant |
G/C
|
snv
|
|
|
Long QT Syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.700 |
1.000 |
2 |
1997 |
2009 |
rs1564820729
|
1.000 |
0.120 |
11 |
2572011 |
splice acceptor variant |
A/C
|
snv
|
|
|
Long QT Syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.700 |
1.000 |
2 |
1997 |
2009 |
rs199472807
|
0.925 |
0.120 |
11 |
2777002 |
missense variant |
G/A;C
|
snv
|
|
|
Long QT Syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.700 |
1.000 |
2 |
2003 |
2016 |
rs397508096
|
1.000 |
0.120 |
11 |
2445251 |
stop gained |
C/G
|
snv
|
|
|
Long QT Syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.700 |
1.000 |
2 |
2005 |
2009 |
rs397508111
|
0.882 |
0.120 |
11 |
2528023 |
splice region variant |
G/A;C
|
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 |
2 |
1999 |
2013 |
rs397508117
|
0.925 |
0.120 |
11 |
2570712 |
frameshift variant |
-/G
|
delins
|
|
|
Long QT Syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.700 |
1.000 |
2 |
1997 |
2011 |
rs397508120
|
0.882 |
0.120 |
11 |
2570734 |
frameshift variant |
G/-
|
delins
|
|
|
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
|
|
Long QT Syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.700 |
1.000 |
1 |
2003 |
2003 |
rs763462603
|
0.925 |
0.120 |
11 |
2570665 |
frameshift variant |
TCTGGTCCGCC/-;TCTGGTCCGCCTCTGGTCCGCC
|
delins
|
|
|
Long QT Syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.700 |
1.000 |
1 |
2009 |
2009 |
rs1060500623
|
1.000 |
0.120 |
11 |
2445295 |
frameshift variant |
C/-
|
delins
|
|
|
Long QT Syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1060500626
|
1.000 |
0.120 |
11 |
2572069 |
frameshift variant |
AGGCTCCTGG/-
|
delins
|
|
|
Long QT Syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1060500628
|
1.000 |
0.120 |
11 |
2572062 |
stop gained |
G/T
|
snv
|
|
|
Long QT Syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1060500629
|
1.000 |
0.120 |
11 |
2587616 |
stop gained |
G/A
|
snv
|
|
|
Long QT Syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs12720458
|
0.716 |
0.240 |
11 |
2585264 |
missense variant |
A/G
|
snv
|
4.0E-05
|
1.4E-05
|
Long QT Syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1435990592
|
1.000 |
0.120 |
11 |
2445295 |
frameshift variant |
CGGCCGCGCCC/-
|
delins
|
|
|
Long QT Syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1464992494
|
1.000 |
0.120 |
11 |
2847874 |
frameshift variant |
-/G
|
delins
|
|
|
Long QT Syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1554893228
|
1.000 |
0.120 |
11 |
2572899 |
stop gained |
C/G
|
snv
|
|
|
Long QT Syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1554958043
|
1.000 |
0.120 |
11 |
2445192 |
stop gained |
A/T
|
snv
|
|
|
Long QT Syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1554958132
|
1.000 |
0.120 |
11 |
2445478 |
frameshift variant |
-/GC
|
delins
|
|
|
Long QT Syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|