rs796052839
|
|
0.882 |
0.200 |
X |
100407579 |
missense variant
|
T/C;G
|
snv
|
|
|
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
|
0.800 |
1.000 |
8 |
1990 |
2017 |
rs587784299
|
|
1.000 |
0.200 |
X |
100407903 |
missense variant
|
T/A;C
|
snv
|
|
|
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
|
0.800 |
1.000 |
4 |
2008 |
2017 |
rs1569315231
|
|
1.000 |
0.200 |
X |
100407680 |
stop gained
|
G/C
|
snv
|
|
|
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs191333060
|
|
1.000 |
0.040 |
X |
100296405 |
missense variant
|
G/A;C
|
snv
|
1.3E-03
|
|
Epilepsy, Rolandic
|
0.700 |
1.000 |
1 |
2018 |
2018 |
rs769967221
|
|
1.000 |
0.200 |
X |
100407415 |
stop gained
|
G/A;T
|
snv
|
|
|
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
|
0.700 |
1.000 |
1 |
2012 |
2012 |
rs1057521256
|
|
1.000 |
0.200 |
X |
100406783 |
stop gained
|
G/A;C
|
snv
|
|
|
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
|
0.700 |
|
0 |
|
|
rs1060502176
|
|
1.000 |
0.200 |
X |
100407891 |
missense variant
|
G/A;C
|
snv
|
|
|
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
|
0.700 |
|
0 |
|
|
rs132630323
|
|
1.000 |
0.200 |
X |
100407276 |
missense variant
|
A/T
|
snv
|
|
|
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
|
0.800 |
|
0 |
|
|
rs132630324
|
|
1.000 |
0.200 |
X |
100408345 |
stop gained
|
G/A
|
snv
|
|
|
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
|
0.700 |
|
0 |
|
|
rs132630325
|
|
1.000 |
0.200 |
X |
100406586 |
stop gained
|
G/C
|
snv
|
|
|
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
|
0.700 |
|
0 |
|
|
rs132630326
|
|
1.000 |
0.200 |
X |
100408456 |
stop gained
|
C/A;T
|
snv
|
|
|
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
|
0.700 |
|
0 |
|
|
rs1555985105
|
|
1.000 |
0.200 |
X |
100407043 |
stop gained
|
G/A
|
snv
|
|
|
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
|
0.700 |
|
0 |
|
|
rs1555985780
|
|
1.000 |
0.200 |
X |
100408330 |
missense variant
|
C/G
|
snv
|
|
|
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
|
0.700 |
|
0 |
|
|
rs1569314809
|
|
1.000 |
0.200 |
X |
100407256 |
missense variant
|
C/A
|
snv
|
|
|
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
|
0.700 |
|
0 |
|
|
rs1569315876
|
|
1.000 |
0.200 |
X |
100408136 |
stop gained
|
G/C
|
snv
|
|
|
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
|
0.700 |
|
0 |
|
|
rs201989363
|
|
1.000 |
0.200 |
X |
100406898 |
missense variant
|
G/A;C;T
|
snv
|
4.4E-05
|
|
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
|
0.800 |
1.000 |
0 |
2008 |
2016 |
rs267606933
|
|
1.000 |
0.200 |
X |
100406927 |
missense variant
|
G/A;C
|
snv
|
|
|
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
|
0.800 |
1.000 |
0 |
2008 |
2016 |
rs796052812
|
|
1.000 |
0.200 |
X |
100407484 |
missense variant
|
G/A
|
snv
|
|
|
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
|
0.700 |
|
0 |
|
|
rs796052837
|
|
1.000 |
0.200 |
X |
100408100 |
stop gained
|
G/C;T
|
snv
|
|
|
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
|
0.700 |
|
0 |
|
|
rs797045873
|
|
1.000 |
0.200 |
X |
100408108 |
stop gained
|
G/A
|
snv
|
|
|
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
|
0.700 |
|
0 |
|
|
rs1555985372
|
|
1.000 |
|
X |
100407591 |
frameshift variant
|
-/C
|
delins
|
|
|
Dysmorphic features
|
0.700 |
1.000 |
16 |
2008 |
2017 |
rs1555985372
|
|
1.000 |
|
X |
100407591 |
frameshift variant
|
-/C
|
delins
|
|
|
Muscle hypotonia
|
0.700 |
1.000 |
16 |
2008 |
2017 |
rs758946412
|
|
0.790 |
0.240 |
X |
100407507 |
frameshift variant
|
G/-;GG
|
delins
|
|
|
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
|
0.700 |
1.000 |
6 |
2008 |
2017 |
rs1131691646
|
|
1.000 |
0.200 |
X |
100407077 |
frameshift variant
|
G/-;GG
|
delins
|
|
|
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
|
0.700 |
1.000 |
2 |
2010 |
2012 |
rs779136255
|
|
1.000 |
0.200 |
X |
100403522 |
coding sequence variant
|
-/CTCTTTCCCCTTAGGCTCACTTTCTCC
|
delins
|
5.8E-06
|
1.9E-05
|
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
|
0.700 |
1.000 |
1 |
2011 |
2011 |