|
rs587780446
|
1.000 |
0.080 |
2 |
165991478 |
frameshift variant |
G/-
|
del
|
|
|
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
0.700 |
|
0 |
|
|
|
rs794726739
|
0.925 |
0.080 |
2 |
165991601 |
stop gained |
G/A
|
snv
|
|
|
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
0.700 |
|
0 |
|
|
|
rs1131691773
|
1.000 |
0.080 |
2 |
165991675 |
missense variant |
A/G
|
snv
|
|
|
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
0.700 |
|
0 |
|
|
|
rs121918815
|
1.000 |
0.080 |
2 |
165991679 |
missense variant |
C/A
|
snv
|
|
|
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
0.700 |
1.000 |
20 |
2000 |
2011 |
|
rs121918814
|
1.000 |
0.080 |
2 |
165991706 |
missense variant |
C/A
|
snv
|
|
|
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
0.700 |
1.000 |
20 |
2000 |
2011 |
|
rs121918783
|
0.925 |
0.080 |
2 |
165991720 |
missense variant |
A/G
|
snv
|
|
|
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
0.700 |
1.000 |
20 |
2000 |
2011 |
|
rs121918813
|
1.000 |
0.080 |
2 |
165991892 |
missense variant |
C/G;T
|
snv
|
|
|
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
0.700 |
1.000 |
20 |
2000 |
2011 |
|
rs121918812
|
1.000 |
0.080 |
2 |
165992050 |
missense variant |
T/C
|
snv
|
|
|
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
0.700 |
1.000 |
20 |
2000 |
2011 |
|
rs121918629
|
0.925 |
0.080 |
2 |
165992149 |
missense variant |
G/A
|
snv
|
|
|
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
0.700 |
|
0 |
|
|
|
rs1559104676
|
1.000 |
0.080 |
2 |
165992209 |
missense variant |
A/G
|
snv
|
|
|
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
0.700 |
|
0 |
|
|
|
rs121917932
|
1.000 |
0.080 |
2 |
165992215 |
missense variant |
A/G
|
snv
|
|
|
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
0.700 |
1.000 |
20 |
2000 |
2011 |
|
rs121918744
|
0.882 |
0.080 |
2 |
165992221 |
missense variant |
G/A;T
|
snv
|
|
|
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
0.700 |
1.000 |
20 |
2000 |
2011 |
|
rs121918811
|
0.882 |
0.080 |
2 |
165992306 |
missense variant |
G/A
|
snv
|
|
7.0E-06
|
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
0.700 |
1.000 |
20 |
2000 |
2011 |
|
rs121917955
|
0.925 |
0.080 |
2 |
165992307 |
missense variant |
G/C;T
|
snv
|
|
|
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
0.800 |
1.000 |
20 |
2000 |
2011 |
|
rs121918622
|
0.790 |
0.080 |
2 |
165992332 |
missense variant |
C/A;T
|
snv
|
4.0E-06
|
|
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
0.800 |
1.000 |
20 |
2000 |
2011 |
|
rs121917976
|
0.882 |
0.080 |
2 |
165992341 |
missense variant |
C/G;T
|
snv
|
|
|
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
0.700 |
|
0 |
|
|
|
rs1057521079
|
0.925 |
0.080 |
2 |
165992362 |
missense variant |
A/T
|
snv
|
|
|
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
0.700 |
|
0 |
|
|
|
rs121918630
|
0.925 |
0.080 |
2 |
165994167 |
missense variant |
C/A
|
snv
|
4.0E-06
|
|
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
0.700 |
|
0 |
|
|
|
rs575368466
|
1.000 |
0.080 |
2 |
165994211 |
missense variant |
C/T
|
snv
|
4.0E-06
|
|
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
0.700 |
1.000 |
20 |
2000 |
2011 |
|
rs139300715
|
0.882 |
0.080 |
2 |
165996047 |
stop gained |
G/A;C;T
|
snv
|
2.0E-05
|
|
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
0.700 |
|
0 |
|
|
|
rs1553522266
|
1.000 |
0.080 |
2 |
165998033 |
splice region variant |
C/A
|
snv
|
|
|
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
0.700 |
|
0 |
|
|
|
rs794729200
|
0.925 |
0.080 |
2 |
165998070 |
missense variant |
T/C;G
|
snv
|
4.0E-06
|
|
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
0.700 |
1.000 |
2 |
2006 |
2010 |
|
rs121918627
|
1.000 |
0.080 |
2 |
166002473 |
missense variant |
A/G
|
snv
|
|
|
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
0.800 |
1.000 |
20 |
2000 |
2011 |
|
rs121918805
|
0.925 |
0.080 |
2 |
166002660 |
missense variant |
C/A;T
|
snv
|
2.0E-05
|
|
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
0.700 |
1.000 |
20 |
2000 |
2011 |
|
rs121917954
|
0.925 |
0.080 |
2 |
166002699 |
missense variant |
C/A;G
|
snv
|
|
|
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
0.800 |
1.000 |
20 |
2000 |
2011 |