rs786205745
|
0.807 |
0.320 |
12 |
2504538 |
missense variant |
G/A;C
|
snv
|
|
|
Timothy syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Mental Disorders; Cardiovascular Diseases
|
0.730 |
1.000 |
4 |
2004 |
2015 |
rs79891110
|
0.807 |
0.320 |
12 |
2504944 |
stop gained |
G/A;T
|
snv
|
|
|
Timothy syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Mental Disorders; Cardiovascular Diseases
|
0.730 |
1.000 |
3 |
2011 |
2015 |
rs794727587
|
1.000 |
0.200 |
12 |
2665600 |
missense variant |
C/G
|
snv
|
|
|
Timothy syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Mental Disorders; Cardiovascular Diseases
|
0.710 |
< 0.001 |
1 |
2012 |
2012 |
rs80315385
|
0.882 |
0.200 |
12 |
2504932 |
missense variant |
G/A
|
snv
|
|
|
Timothy syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Mental Disorders; Cardiovascular Diseases
|
0.710 |
1.000 |
1 |
2013 |
2013 |
rs730880056
|
1.000 |
0.200 |
12 |
2593261 |
missense variant |
G/A;C
|
snv
|
1.2E-05
|
|
Timothy syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Mental Disorders; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs374528680
|
0.851 |
0.240 |
12 |
2686216 |
missense variant |
G/A;C
|
snv
|
4.0E-06;
6.0E-05
|
|
Timothy syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Mental Disorders; Cardiovascular Diseases
|
0.010 |
1.000 |
1 |
2016 |
2016 |
rs587782933
|
0.827 |
0.200 |
12 |
2504526 |
missense variant |
G/A
|
snv
|
|
|
Timothy syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Mental Disorders; Cardiovascular Diseases
|
0.010 |
1.000 |
1 |
2013 |
2013 |
rs797044881
|
1.000 |
0.200 |
12 |
2608651 |
missense variant |
T/C
|
snv
|
|
|
Timothy syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Mental Disorders; Cardiovascular Diseases
|
0.010 |
1.000 |
1 |
2015 |
2015 |