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
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
rs1568866916
×
Entrez Id:
57468
Gene Symbol:
SLC12A5
SLC12A5
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 34
T
0.700
CausalMutation
CLINVAR
rs368484023
×
Entrez Id:
57468
Gene Symbol:
SLC12A5
SLC12A5
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 34
G
0.700
CausalMutation
CLINVAR
rs750336750
×
Entrez Id:
57468
Gene Symbol:
SLC12A5
SLC12A5
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 34
T
0.700
CausalMutation
CLINVAR
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
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
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
Febrile Convulsions
0.010
GeneticVariation
BEFREE
Our data suggest that KCC2-R952H is a bona fide susceptibility variant for febrile seizures .
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
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
rs142740233
×
Entrez Id:
57468
Gene Symbol:
SLC12A5
SLC12A5
Idiopathic generalized epilepsy
0.010
GeneticVariation
BEFREE
Here, we report two non-synonymous functional variants in human KCC2, R952H and R1049C, exhibiting clear statistical association with idiopathic generalized epilepsy (IGE).
24928908
2014
rs548424453
×
Entrez Id:
57468
Gene Symbol:
SLC12A5
SLC12A5
Idiopathic generalized epilepsy
0.010
GeneticVariation
BEFREE
Here, we report two non-synonymous functional variants in human KCC2, R952H and R1049C , exhibiting clear statistical association with idiopathic generalized epilepsy (IGE ).
24928908
2014
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