rs1397360375
SLC12A5;LOC105372632;SLC12A5-AS1
Epilepsy of infancy with migrating focal seizures
0.010
GeneticVariation
BEFREE
Whole exome sequencing (WES) in ten sporadic and one familial case of EIMFS revealed compound heterozygous SLC12A5 (encoding the neuronal K(+)-Cl(-) co-transporter KCC2) mutations in two families: c.279 + 1G > C causing skipping of exon 3 in the transcript (p.E50_Q93del) and c.572 C >T (p.A191V) in individuals 1 and 2, and c.967T > C (p.S323P) and c.1243 A > G (p.M415V) in individual 3.
27436767
2016
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
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
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
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
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