rs397518447
|
0.925 |
0.040 |
16 |
9829585 |
missense variant |
G/T
|
snv
|
|
|
EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION
|
|
0.800 |
1.000 |
13 |
2010 |
2017 |
rs397518470
|
1.000 |
|
16 |
9840745 |
missense variant |
C/A;T
|
snv
|
|
|
EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION
|
|
0.800 |
1.000 |
13 |
2010 |
2017 |
rs762659685
|
1.000 |
|
16 |
9822286 |
missense variant |
C/T
|
snv
|
|
|
EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION
|
|
0.800 |
1.000 |
13 |
2010 |
2017 |
rs1250662891
|
0.925 |
0.040 |
16 |
10180176 |
missense variant |
G/C
|
snv
|
4.0E-06
|
|
EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION
|
|
0.700 |
1.000 |
12 |
2010 |
2017 |
rs1360906241
|
1.000 |
|
16 |
9840788 |
missense variant |
G/A
|
snv
|
|
|
EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION
|
|
0.700 |
1.000 |
12 |
2010 |
2017 |
rs1555482933
|
0.925 |
0.040 |
16 |
9764834 |
missense variant |
T/A
|
snv
|
|
|
EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION
|
|
0.700 |
1.000 |
12 |
2010 |
2017 |
rs1555488144
|
0.925 |
0.040 |
16 |
9798454 |
missense variant |
C/T
|
snv
|
|
|
EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION
|
|
0.700 |
1.000 |
12 |
2010 |
2017 |
rs1555491648
|
0.925 |
0.040 |
16 |
9822337 |
missense variant |
G/A
|
snv
|
|
|
EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION
|
|
0.700 |
1.000 |
12 |
2010 |
2017 |
rs1555496111
|
0.925 |
0.040 |
16 |
9849778 |
missense variant |
A/G
|
snv
|
|
|
EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION
|
|
0.700 |
1.000 |
12 |
2010 |
2017 |
rs199528312
|
1.000 |
|
16 |
9938097 |
missense variant |
G/A
|
snv
|
3.6E-05
|
1.4E-05
|
EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION
|
|
0.700 |
1.000 |
12 |
2010 |
2017 |
rs397514557
|
1.000 |
|
16 |
9829485 |
missense variant |
G/C
|
snv
|
|
|
EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION
|
|
0.800 |
1.000 |
12 |
2010 |
2017 |
rs397518450
|
1.000 |
|
16 |
9834227 |
missense variant |
G/C
|
snv
|
|
|
EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION
|
|
0.800 |
1.000 |
12 |
2010 |
2017 |
rs397518468
|
1.000 |
|
16 |
9840706 |
missense variant |
G/A
|
snv
|
|
|
EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION
|
|
0.700 |
1.000 |
12 |
2010 |
2017 |
rs397518471
|
1.000 |
|
16 |
9829476 |
missense variant |
A/C
|
snv
|
|
|
EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION
|
|
0.800 |
1.000 |
12 |
2010 |
2017 |
rs886039239
|
1.000 |
|
16 |
9764617 |
missense variant |
T/C
|
snv
|
8.0E-06
|
|
EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION
|
|
0.700 |
1.000 |
12 |
2010 |
2017 |
rs933322445
|
1.000 |
|
16 |
9764747 |
missense variant |
C/T
|
snv
|
|
|
EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION
|
|
0.700 |
1.000 |
12 |
2010 |
2017 |
rs397518465
|
0.925 |
0.040 |
16 |
9937958 |
splice donor variant |
C/A;T
|
snv
|
|
|
EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION
|
|
0.700 |
1.000 |
4 |
2013 |
2017 |
rs4998386
|
1.000 |
0.040 |
16 |
9976688 |
intron variant |
C/T
|
snv
|
|
0.11
|
Caffeine related disorders
|
|
0.020 |
0.500 |
2 |
2014 |
2018 |
rs11074547
|
|
|
16 |
10043032 |
intron variant |
T/G
|
snv
|
|
0.32
|
Vital capacity
|
|
0.700 |
1.000 |
1 |
2019 |
2019 |
rs16966656
|
0.925 |
0.040 |
16 |
9898362 |
intron variant |
C/A;G
|
snv
|
|
|
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
|
|
0.700 |
1.000 |
1 |
2018 |
2018 |
rs4780790
|
|
|
16 |
10087779 |
intron variant |
G/T
|
snv
|
|
0.68
|
Vital capacity
|
|
0.700 |
1.000 |
1 |
2019 |
2019 |
rs72776049
|
|
|
16 |
10127597 |
intron variant |
T/C
|
snv
|
|
0.24
|
mathematical ability
|
|
0.700 |
1.000 |
1 |
2018 |
2018 |
rs796052551
|
0.882 |
0.040 |
16 |
9768997 |
missense variant |
T/C
|
snv
|
|
|
Profound global developmental delay
|
|
0.010 |
1.000 |
1 |
2017 |
2017 |
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 |
|
|