rs121918361
|
1.000 |
0.120 |
X |
63724557 |
missense variant |
C/G
|
snv
|
|
|
Hyperekplexia and Epilepsy
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.810 |
1.000 |
3 |
2004 |
2015 |
rs1135401795
|
1.000 |
0.120 |
X |
63674097 |
stop gained |
G/A
|
snv
|
|
|
Hyperekplexia and Epilepsy
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
4 |
2008 |
2018 |
rs1569476483
|
1.000 |
0.120 |
X |
63697124 |
splice donor variant |
C/T
|
snv
|
|
|
Hyperekplexia and Epilepsy
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
3 |
2015 |
2017 |
rs111810219
|
1.000 |
0.080 |
X |
63717947 |
intron variant |
G/A
|
snv
|
|
2.3E-02
|
Alopecia
|
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
1 |
2017 |
2017 |
rs1556358991
|
1.000 |
0.120 |
X |
63674063 |
stop gained |
C/T
|
snv
|
|
|
Hyperekplexia and Epilepsy
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1556389083
|
1.000 |
0.120 |
X |
63697145 |
missense variant |
C/G
|
snv
|
|
|
Hyperekplexia and Epilepsy
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1556401714
|
1.000 |
0.120 |
X |
63706328 |
missense variant |
C/T
|
snv
|
|
|
Hyperekplexia and Epilepsy
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1556401730
|
1.000 |
0.120 |
X |
63706329 |
missense variant |
G/A
|
snv
|
|
|
Hyperekplexia and Epilepsy
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1569458475
|
1.000 |
0.120 |
X |
63674061 |
stop gained |
G/A
|
snv
|
|
|
Hyperekplexia and Epilepsy
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs397514460
|
1.000 |
0.120 |
X |
63785142 |
stop gained |
G/A;T
|
snv
|
|
|
Hyperekplexia and Epilepsy
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1429108797
|
1.000 |
0.160 |
X |
63638143 |
missense variant |
T/C
|
snv
|
|
|
Mild Mental Retardation
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.010 |
1.000 |
1 |
2019 |
2019 |