rs121917753
|
1.000 |
0.080 |
2 |
165373331 |
missense variant |
G/A;T
|
snv
|
|
|
SEIZURES, BENIGN FAMILIAL INFANTILE, 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.810 |
1.000 |
16 |
2001 |
2018 |
rs121917751
|
0.925 |
0.080 |
2 |
165344666 |
missense variant |
G/A
|
snv
|
|
|
SEIZURES, BENIGN FAMILIAL INFANTILE, 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.800 |
1.000 |
17 |
2001 |
2018 |
rs121917752
|
0.925 |
0.080 |
2 |
165309414 |
missense variant |
G/A
|
snv
|
|
|
SEIZURES, BENIGN FAMILIAL INFANTILE, 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.800 |
1.000 |
17 |
2001 |
2018 |
rs121917748
|
0.882 |
0.120 |
2 |
165308751 |
missense variant |
C/T
|
snv
|
2.0E-05
|
|
SEIZURES, BENIGN FAMILIAL INFANTILE, 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.800 |
1.000 |
16 |
2001 |
2018 |
rs121917749
|
1.000 |
0.080 |
2 |
165374700 |
missense variant |
C/T
|
snv
|
|
|
SEIZURES, BENIGN FAMILIAL INFANTILE, 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.800 |
1.000 |
16 |
2001 |
2018 |
rs121917750
|
0.925 |
0.080 |
2 |
165386881 |
missense variant |
C/G
|
snv
|
|
|
SEIZURES, BENIGN FAMILIAL INFANTILE, 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.800 |
1.000 |
16 |
2001 |
2018 |
rs121917754
|
1.000 |
0.080 |
2 |
165354279 |
missense variant |
C/A
|
snv
|
|
|
SEIZURES, BENIGN FAMILIAL INFANTILE, 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.800 |
1.000 |
16 |
2001 |
2018 |
rs1553463119
|
1.000 |
0.080 |
2 |
165386960 |
missense variant |
A/G
|
snv
|
|
|
SEIZURES, BENIGN FAMILIAL INFANTILE, 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.800 |
1.000 |
16 |
2001 |
2018 |
rs387906687
|
1.000 |
0.080 |
2 |
165310379 |
missense variant |
A/G
|
snv
|
|
|
SEIZURES, BENIGN FAMILIAL INFANTILE, 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.800 |
1.000 |
16 |
2001 |
2018 |
rs767224097
|
1.000 |
0.080 |
2 |
165388729 |
missense variant |
A/C
|
snv
|
4.0E-06
|
|
SEIZURES, BENIGN FAMILIAL INFANTILE, 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
15 |
2001 |
2018 |
rs796053126
|
0.925 |
0.080 |
2 |
165354267 |
stop gained |
G/A;T
|
snv
|
|
|
SEIZURES, BENIGN FAMILIAL INFANTILE, 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
5 |
2013 |
2017 |
rs794727152
|
0.925 |
0.080 |
2 |
165342465 |
missense variant |
G/A
|
snv
|
|
|
SEIZURES, BENIGN FAMILIAL INFANTILE, 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
4 |
2013 |
2017 |
rs796053138
|
0.925 |
0.080 |
2 |
165377645 |
stop gained |
C/G;T
|
snv
|
|
|
SEIZURES, BENIGN FAMILIAL INFANTILE, 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
2 |
2016 |
2017 |
rs1553567409
|
0.925 |
0.080 |
2 |
165308794 |
missense variant |
C/T
|
snv
|
|
|
SEIZURES, BENIGN FAMILIAL INFANTILE, 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2017 |
2017 |
rs1553579225
|
0.925 |
0.080 |
2 |
165344558 |
stop gained |
C/T
|
snv
|
|
|
SEIZURES, BENIGN FAMILIAL INFANTILE, 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs190111194
|
0.925 |
0.080 |
2 |
165373330 |
missense variant |
C/T
|
snv
|
4.0E-06
|
|
SEIZURES, BENIGN FAMILIAL INFANTILE, 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs387906684
|
0.851 |
0.120 |
2 |
165367327 |
stop gained |
G/A;T
|
snv
|
|
|
SEIZURES, BENIGN FAMILIAL INFANTILE, 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2009 |
2009 |
rs796053156
|
0.925 |
0.080 |
2 |
165388685 |
missense variant |
G/A
|
snv
|
|
|
SEIZURES, BENIGN FAMILIAL INFANTILE, 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2017 |
2017 |
rs869312663
|
0.882 |
0.200 |
2 |
165381114 |
missense variant |
A/G
|
snv
|
|
|
SEIZURES, BENIGN FAMILIAL INFANTILE, 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2017 |
2017 |
rs1057520413
|
1.000 |
0.080 |
2 |
165310406 |
missense variant |
G/A
|
snv
|
|
|
SEIZURES, BENIGN FAMILIAL INFANTILE, 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1060503101
|
0.925 |
0.080 |
2 |
165388782 |
missense variant |
C/T
|
snv
|
|
|
SEIZURES, BENIGN FAMILIAL INFANTILE, 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1060503102
|
0.925 |
0.080 |
2 |
165388682 |
stop gained |
C/T
|
snv
|
|
|
SEIZURES, BENIGN FAMILIAL INFANTILE, 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1553461662
|
0.925 |
0.080 |
2 |
165377611 |
frameshift variant |
-/T
|
delins
|
|
|
SEIZURES, BENIGN FAMILIAL INFANTILE, 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1553462227
|
0.925 |
0.080 |
2 |
165381148 |
missense variant |
T/C
|
snv
|
|
|
SEIZURES, BENIGN FAMILIAL INFANTILE, 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1553463513
|
1.000 |
0.080 |
2 |
165388923 |
missense variant |
G/C
|
snv
|
|
|
SEIZURES, BENIGN FAMILIAL INFANTILE, 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|