rs74315442
|
0.851 |
0.200 |
21 |
43774297 |
stop gained |
G/A
|
snv
|
4.0E-05
|
2.1E-05
|
Severe intellectual disability
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs74315442
|
0.851 |
0.200 |
21 |
43774297 |
stop gained |
G/A
|
snv
|
4.0E-05
|
2.1E-05
|
Unverricht-Lundborg Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.710 |
1.000 |
11 |
1996 |
2016 |
rs147484110
|
0.807 |
0.200 |
21 |
43774760 |
splice acceptor variant |
C/G
|
snv
|
1.5E-04
|
2.7E-04
|
Unverricht-Lundborg Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
4 |
1996 |
2012 |
rs386833440
|
1.000 |
0.080 |
21 |
43774658 |
splice region variant |
C/T
|
snv
|
|
|
Unverricht-Lundborg Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2002 |
2002 |
rs386833443
|
1.000 |
0.080 |
21 |
43776204 |
splice region variant |
C/T
|
snv
|
|
|
Unverricht-Lundborg Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.710 |
1.000 |
1 |
2018 |
2018 |
rs74315443
|
1.000 |
0.080 |
21 |
43776260 |
missense variant |
C/A;G
|
snv
|
8.0E-06
|
|
Unverricht-Lundborg Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.810 |
1.000 |
1 |
1997 |
1997 |
rs121909346
|
1.000 |
0.080 |
21 |
43774287 |
missense variant |
T/G
|
snv
|
|
|
Unverricht-Lundborg Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs312262707
|
1.000 |
0.080 |
21 |
43774639 |
splice donor variant |
GAGGCCCACACTCTACCT/-
|
delins
|
|
|
Unverricht-Lundborg Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs312262708
|
1.000 |
0.080 |
21 |
43774677 |
missense variant |
C/T
|
snv
|
|
1.4E-05
|
Unverricht-Lundborg Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs386833439
|
1.000 |
0.080 |
21 |
43774701 |
stop gained |
G/T
|
snv
|
|
7.0E-06
|
Unverricht-Lundborg Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs386833441
|
1.000 |
0.080 |
21 |
43774332 |
splice acceptor variant |
T/C
|
snv
|
|
|
Unverricht-Lundborg Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs545986367
|
0.882 |
0.080 |
21 |
43774690 |
stop gained |
G/A
|
snv
|
3.2E-05
|
7.0E-06
|
Unverricht-Lundborg Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs796943858
|
0.882 |
0.080 |
21 |
43774280 |
frameshift variant |
GA/-
|
delins
|
2.0E-05
|
5.6E-05
|
Unverricht-Lundborg Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs864309482
|
1.000 |
0.080 |
21 |
43774637 |
splice donor variant |
CTCCTGAGGCCCACACTCTA/TT
|
delins
|
|
|
Unverricht-Lundborg Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|