rs121909739
|
|
DYSTONIA 18 (disorder)
|
T |
0.810 |
CausalMutation
|
CLINVAR |
|
|
|
rs864309514
|
|
Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly
|
T |
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
rs80359825
|
|
GLUT1 DEFICIENCY SYNDROME 1
|
A |
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
rs80359818
|
|
DYSTONIA 18 (disorder)
|
A |
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
rs80359818
|
|
CHOREOATHETOSIS/SPASTICITY, EPISODIC
|
A |
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
rs398123069
|
|
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12
|
C |
0.800 |
SusceptibilityMutation
|
CLINVAR |
|
|
|
rs397514564
|
|
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12
|
G |
0.800 |
SusceptibilityMutation
|
CLINVAR |
|
|
|
rs387907313
|
|
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12
|
A |
0.800 |
SusceptibilityMutation
|
CLINVAR |
|
|
|
rs387907312
|
|
CHOREOATHETOSIS/SPASTICITY, EPISODIC
|
A |
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
rs267607061
|
|
DYSTONIA 18 (disorder)
|
A |
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
rs267607060
|
|
DYSTONIA 18 (disorder)
|
AT |
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
rs202060209
|
|
DYSTONIA 18 (disorder)
|
A |
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
rs1553155986
|
|
GLUT1 DEFICIENCY SYNDROME 1
|
T |
0.800 |
GeneticVariation
|
CLINVAR |
|
|
|
rs13306758
|
|
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12
|
A |
0.800 |
GeneticVariation
|
CLINVAR |
|
|
|
rs13306758
|
|
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12
|
A |
0.800 |
SusceptibilityMutation
|
CLINVAR |
|
|
|
rs121909740
|
|
DYSTONIA 18 (disorder)
|
T |
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
rs80359825
|
|
Glut1 Deficiency Syndrome
|
A |
0.710 |
GeneticVariation
|
CLINVAR |
|
|
|
rs878853161
|
|
Speech Delay
|
G |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs878853161
|
|
Dystonia
|
G |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs878853161
|
|
Moderate intellectual disability
|
G |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs878853161
|
|
Autism Spectrum Disorders
|
G |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs878853161
|
|
Congenital anomaly of face
|
G |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs878853161
|
|
GLUT1 DEFICIENCY SYNDROME 1
|
G |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs878853161
|
|
Seizures
|
G |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs864309522
|
|
Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly
|
A |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|