rs1057524089
|
1.000 |
|
16 |
9938479 |
stop gained |
G/A
|
snv
|
|
|
EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION
|
|
0.700 |
|
0 |
|
|
rs1060503228
|
1.000 |
|
16 |
9834148 |
stop gained |
G/C
|
snv
|
|
|
EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION
|
|
0.700 |
|
0 |
|
|
rs1064795143
|
1.000 |
|
16 |
9798269 |
splice donor variant |
GGTCTTACCATCACCCACA/-
|
del
|
|
|
EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION
|
|
0.700 |
|
0 |
|
|
rs1445802934
|
1.000 |
|
16 |
9822363 |
missense variant |
G/A
|
snv
|
4.0E-06
|
|
EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION
|
|
0.700 |
|
0 |
|
|
rs1555483699
|
0.851 |
0.120 |
16 |
9768994 |
missense variant |
C/T
|
snv
|
|
|
Poor school performance
|
|
0.700 |
|
0 |
|
|
rs1555483699
|
0.851 |
0.120 |
16 |
9768994 |
missense variant |
C/T
|
snv
|
|
|
Seizures
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1555483699
|
0.851 |
0.120 |
16 |
9768994 |
missense variant |
C/T
|
snv
|
|
|
Gait Ataxia
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1555483699
|
0.851 |
0.120 |
16 |
9768994 |
missense variant |
C/T
|
snv
|
|
|
Large head (disorder)
|
|
0.700 |
|
0 |
|
|
rs1555483699
|
0.851 |
0.120 |
16 |
9768994 |
missense variant |
C/T
|
snv
|
|
|
Large hand
|
|
0.700 |
|
0 |
|
|
rs1555483699
|
0.851 |
0.120 |
16 |
9768994 |
missense variant |
C/T
|
snv
|
|
|
EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION
|
|
0.700 |
|
0 |
|
|
rs1555483699
|
0.851 |
0.120 |
16 |
9768994 |
missense variant |
C/T
|
snv
|
|
|
Eczema
|
Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs1555483699
|
0.851 |
0.120 |
16 |
9768994 |
missense variant |
C/T
|
snv
|
|
|
Absent speech
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1555483699
|
0.851 |
0.120 |
16 |
9768994 |
missense variant |
C/T
|
snv
|
|
|
Strabismus
|
Eye Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1555483699
|
0.851 |
0.120 |
16 |
9768994 |
missense variant |
C/T
|
snv
|
|
|
Global developmental delay
|
|
0.700 |
|
0 |
|
|
rs1555492758
|
1.000 |
|
16 |
9829494 |
missense variant |
T/C
|
snv
|
|
|
EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION
|
|
0.700 |
|
0 |
|
|
rs1555492769
|
1.000 |
|
16 |
9829529 |
stop gained |
C/T
|
snv
|
|
|
EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION
|
|
0.700 |
|
0 |
|
|
rs1555493585
|
1.000 |
|
16 |
9834209 |
stop gained |
C/G;T
|
snv
|
|
|
EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION
|
|
0.700 |
|
0 |
|
|
rs387906637
|
1.000 |
|
16 |
9938314 |
stop gained |
G/A
|
snv
|
|
|
EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION
|
|
0.700 |
|
0 |
|
|
rs397518466
|
1.000 |
|
16 |
10180410 |
start lost |
A/G
|
snv
|
|
|
EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION
|
|
0.700 |
|
0 |
|
|
rs397518467
|
1.000 |
|
16 |
9764715 |
stop gained |
G/C
|
snv
|
|
|
EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION
|
|
0.700 |
|
0 |
|
|
rs397518469
|
1.000 |
|
16 |
9849963 |
splice acceptor variant |
T/C
|
snv
|
|
|
EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION
|
|
0.700 |
|
0 |
|
|
rs397518472
|
1.000 |
|
16 |
9822391 |
stop gained |
G/A
|
snv
|
|
|
EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION
|
|
0.700 |
|
0 |
|
|
rs751455326
|
1.000 |
|
16 |
9768993 |
missense variant |
G/A;T
|
snv
|
4.0E-06
|
|
Seizures
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs751455326
|
1.000 |
|
16 |
9768993 |
missense variant |
G/A;T
|
snv
|
4.0E-06
|
|
EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION
|
|
0.700 |
|
0 |
|
|
rs761168789
|
1.000 |
|
16 |
9891000 |
missense variant |
G/A
|
snv
|
4.0E-06
|
|
EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION
|
|
0.700 |
|
0 |
|
|