rs1135401773
|
1.000 |
0.200 |
X |
43731325 |
missense variant |
G/A
|
snv
|
|
|
Brunner Syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs1135401773
|
1.000 |
0.200 |
X |
43731325 |
missense variant |
G/A
|
snv
|
|
|
Poor school performance
|
|
0.700 |
|
0 |
|
|
rs1346551029
|
1.000 |
|
X |
43655101 |
5 prime UTR variant |
AGTACCCGCACCAGTACCGGCACCGGCACCAGTACCCGCACCAGTACCGGCACCGGCACC/-;AGTACCCGCACCAGTACCGGCACCGGCACC;AGTACCCGCACCAGTACCGGCACCGGCACCAGTACCCGCACCAGTACCGGCACCGGCACCAGTACCCGCACCAGTACCGGCACCGGCACC;AGTACCCGCACCAGTACCGGCACCGGCACCAGTACCCGCACCAGTACCGGCACCGGCACCAGTACCCGCACCAGTACCGGCACCGGCACCAGTACCCGCACCAGTACCGGCACCGGCACC
|
delins
|
|
1.3E-02
|
ANTISOCIAL BEHAVIOR, SUSCEPTIBILITY TO
|
|
0.700 |
|
0 |
|
|
rs1346551029
|
1.000 |
|
X |
43655101 |
5 prime UTR variant |
AGTACCCGCACCAGTACCGGCACCGGCACCAGTACCCGCACCAGTACCGGCACCGGCACC/-;AGTACCCGCACCAGTACCGGCACCGGCACC;AGTACCCGCACCAGTACCGGCACCGGCACCAGTACCCGCACCAGTACCGGCACCGGCACCAGTACCCGCACCAGTACCGGCACCGGCACC;AGTACCCGCACCAGTACCGGCACCGGCACCAGTACCCGCACCAGTACCGGCACCGGCACCAGTACCCGCACCAGTACCGGCACCGGCACCAGTACCCGCACCAGTACCGGCACCGGCACC
|
delins
|
|
1.3E-02
|
AUTISM, SEVERE
|
|
0.700 |
|
0 |
|
|
rs587777457
|
0.925 |
0.200 |
X |
43731695 |
missense variant |
G/T
|
snv
|
|
|
Brunner Syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs72554632
|
1.000 |
0.200 |
X |
43731784 |
stop gained |
C/T
|
snv
|
|
|
Brunner Syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs796065311
|
1.000 |
0.200 |
X |
43731344 |
frameshift variant |
-/T
|
ins
|
|
|
Brunner Syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs796065312
|
1.000 |
0.200 |
X |
43683572 |
missense variant |
C/T
|
snv
|
|
|
Brunner Syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|