rs548424453
|
Entrez Id: |
57468 |
Gene Symbol: |
SLC12A5 |
SLC12A5
|
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 14
|
|
0.800 |
GeneticVariation |
UNIPROT |
Regulatory domain or CpG site variation in SLC12A5, encoding the chloride transporter KCC2, in human autism and schizophrenia.
|
26528127 |
2015 |
rs863225304
|
Entrez Id: |
57468 |
Gene Symbol: |
SLC12A5 |
SLC12A5
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 34
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizures.
|
26333769 |
2015 |
rs863225305
|
Entrez Id: |
57468 |
Gene Symbol: |
SLC12A5 |
SLC12A5
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 34
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizures.
|
26333769 |
2015 |
rs863225306
|
Entrez Id: |
57468 |
Gene Symbol: |
SLC12A5 |
SLC12A5
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 34
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizures.
|
26333769 |
2015 |
rs548424453
|
Entrez Id: |
57468 |
Gene Symbol: |
SLC12A5 |
SLC12A5
|
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 14
|
|
0.800 |
GeneticVariation |
UNIPROT |
A variant of KCC2 from patients with febrile seizures impairs neuronal Cl- extrusion and dendritic spine formation.
|
24668262 |
2014 |
rs548424453
|
Entrez Id: |
57468 |
Gene Symbol: |
SLC12A5 |
SLC12A5
|
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 14
|
|
0.800 |
GeneticVariation |
UNIPROT |
Genetically encoded impairment of neuronal KCC2 cotransporter function in human idiopathic generalized epilepsy.
|
24928908 |
2014 |
rs548424453
|
Entrez Id: |
57468 |
Gene Symbol: |
SLC12A5 |
SLC12A5
|
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 14
|
T |
0.800 |
SusceptibilityMutation |
CLINVAR |
|
|
|
rs863225304
|
Entrez Id: |
57468 |
Gene Symbol: |
SLC12A5 |
SLC12A5
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 34
|
C |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs863225305
|
Entrez Id: |
57468 |
Gene Symbol: |
SLC12A5 |
SLC12A5
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 34
|
A |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs863225306
|
Entrez Id: |
57468 |
Gene Symbol: |
SLC12A5 |
SLC12A5
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 34
|
A |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs12624433
|
Entrez Id: |
57468 |
Gene Symbol: |
SLC12A5 |
SLC12A5
|
Major Depressive Disorder
|
A |
0.700 |
GeneticVariation |
GWASCAT |
Genome-wide meta-analysis of depression identifies 102 independent variants and highlights the importance of the prefrontal brain regions.
|
30718901 |
2019 |
rs12624433
|
Entrez Id: |
57468 |
Gene Symbol: |
SLC12A5 |
SLC12A5
|
mathematical ability
|
A |
0.700 |
GeneticVariation |
GWASCAT |
Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.
|
30038396 |
2018 |
rs6094239
|
Entrez Id: |
57468 |
Gene Symbol: |
SLC12A5 |
SLC12A5
|
Blood Protein Measurement
|
A |
0.700 |
GeneticVariation |
GWASCAT |
Co-regulatory networks of human serum proteins link genetics to disease.
|
30072576 |
2018 |
rs142740233
|
Entrez Id: |
57468 |
Gene Symbol: |
SLC12A5 |
SLC12A5
|
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 14
|
|
0.700 |
GeneticVariation |
UNIPROT |
Regulatory domain or CpG site variation in SLC12A5, encoding the chloride transporter KCC2, in human autism and schizophrenia.
|
26528127 |
2015 |
rs142740233
|
Entrez Id: |
57468 |
Gene Symbol: |
SLC12A5 |
SLC12A5
|
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 14
|
|
0.700 |
GeneticVariation |
UNIPROT |
A variant of KCC2 from patients with febrile seizures impairs neuronal Cl- extrusion and dendritic spine formation.
|
24668262 |
2014 |
rs142740233
|
Entrez Id: |
57468 |
Gene Symbol: |
SLC12A5 |
SLC12A5
|
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 14
|
|
0.700 |
GeneticVariation |
UNIPROT |
Genetically encoded impairment of neuronal KCC2 cotransporter function in human idiopathic generalized epilepsy.
|
24928908 |
2014 |
rs10432735
|
SLC12A5;LOC105372632;SLC12A5-AS1
|
Serum albumin measurement
|
|
0.700 |
GeneticVariation |
GWASDB |
Genome-wide association study identifies multiple loci influencing human serum metabolite levels.
|
22286219 |
2012 |
rs1220094830
|
Entrez Id: |
57468 |
Gene Symbol: |
SLC12A5 |
SLC12A5
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 34
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1259210706
|
Entrez Id: |
57468 |
Gene Symbol: |
SLC12A5 |
SLC12A5
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 34
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1555863145
|
Entrez Id: |
57468 |
Gene Symbol: |
SLC12A5 |
SLC12A5
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 34
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1555863593
|
Entrez Id: |
57468 |
Gene Symbol: |
SLC12A5 |
SLC12A5
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 34
|
CT |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1555868402
|
Entrez Id: |
57468 |
Gene Symbol: |
SLC12A5 |
SLC12A5
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 34
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1568858867
|
Entrez Id: |
57468 |
Gene Symbol: |
SLC12A5 |
SLC12A5
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 34
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1568859798
|
Entrez Id: |
57468 |
Gene Symbol: |
SLC12A5 |
SLC12A5
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 34
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1568862550
|
Entrez Id: |
57468 |
Gene Symbol: |
SLC12A5 |
SLC12A5
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 34
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|