SLC12A5, solute carrier family 12 member 5, 57468

N. diseases: 135; N. variants: 20
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs548424453
rs548424453
Entrez Id: 57468
Gene Symbol: SLC12A5
SLC12A5
CUI: C4225245
Disease:
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 14 		T 0.800 SusceptibilityMutation CLINVAR
dbSNP: rs863225304
rs863225304
Entrez Id: 57468
Gene Symbol: SLC12A5
SLC12A5
CUI: C4225257
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 34 		C 0.800 CausalMutation CLINVAR
dbSNP: rs863225305
rs863225305
Entrez Id: 57468
Gene Symbol: SLC12A5
SLC12A5
CUI: C4225257
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 34 		A 0.800 CausalMutation CLINVAR
dbSNP: rs863225306
rs863225306
Entrez Id: 57468
Gene Symbol: SLC12A5
SLC12A5
CUI: C4225257
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 34 		A 0.800 CausalMutation CLINVAR
dbSNP: rs1220094830
rs1220094830
Entrez Id: 57468
Gene Symbol: SLC12A5
SLC12A5
CUI: C4225257
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 34 		C 0.700 CausalMutation CLINVAR
dbSNP: rs1259210706
rs1259210706
Entrez Id: 57468
Gene Symbol: SLC12A5
SLC12A5
CUI: C4225257
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 34 		C 0.700 CausalMutation CLINVAR
dbSNP: rs1555863145
rs1555863145
Entrez Id: 57468
Gene Symbol: SLC12A5
SLC12A5
CUI: C4225257
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 34 		C 0.700 CausalMutation CLINVAR
dbSNP: rs1555863593
rs1555863593
Entrez Id: 57468
Gene Symbol: SLC12A5
SLC12A5
CUI: C4225257
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 34 		CT 0.700 CausalMutation CLINVAR
dbSNP: rs1555868402
rs1555868402
Entrez Id: 57468
Gene Symbol: SLC12A5
SLC12A5
CUI: C4225257
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 34 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1568858867
rs1568858867
Entrez Id: 57468
Gene Symbol: SLC12A5
SLC12A5
CUI: C4225257
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 34 		C 0.700 CausalMutation CLINVAR
dbSNP: rs1568859798
rs1568859798
Entrez Id: 57468
Gene Symbol: SLC12A5
SLC12A5
CUI: C4225257
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 34 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1568862550
rs1568862550
Entrez Id: 57468
Gene Symbol: SLC12A5
SLC12A5
CUI: C4225257
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 34 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1568866916
rs1568866916
Entrez Id: 57468
Gene Symbol: SLC12A5
SLC12A5
CUI: C4225257
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 34 		T 0.700 CausalMutation CLINVAR
dbSNP: rs368484023
rs368484023
Entrez Id: 57468
Gene Symbol: SLC12A5
SLC12A5
CUI: C4225257
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 34 		G 0.700 CausalMutation CLINVAR
dbSNP: rs750336750
rs750336750
Entrez Id: 57468
Gene Symbol: SLC12A5
SLC12A5
CUI: C4225257
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 34 		T 0.700 CausalMutation CLINVAR
dbSNP: rs10432735
rs10432735
Entrez Id: 57468;105372632;109729184
Gene Symbol: SLC12A5;LOC105372632;SLC12A5-AS1
SLC12A5;LOC105372632;SLC12A5-AS1
CUI: C0523465
Disease:
Serum albumin measurement 		0.700 GeneticVariation GWASDB Genome-wide association study identifies multiple loci influencing human serum metabolite levels. 22286219 2012
dbSNP: rs548424453
rs548424453
Entrez Id: 57468
Gene Symbol: SLC12A5
SLC12A5
CUI: C4225245
Disease:
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
dbSNP: rs548424453
rs548424453
Entrez Id: 57468
Gene Symbol: SLC12A5
SLC12A5
CUI: C4225245
Disease:
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
dbSNP: rs142740233
rs142740233
Entrez Id: 57468
Gene Symbol: SLC12A5
SLC12A5
CUI: C4225245
Disease:
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
dbSNP: rs142740233
rs142740233
Entrez Id: 57468
Gene Symbol: SLC12A5
SLC12A5
CUI: C4225245
Disease:
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
dbSNP: rs142740233
rs142740233
Entrez Id: 57468
Gene Symbol: SLC12A5
SLC12A5
CUI: C0009952
Disease:
Febrile Convulsions 		0.010 GeneticVariation BEFREE Our data suggest that KCC2-R952H is a bona fide susceptibility variant for febrile seizures. 24668262 2014
dbSNP: rs142740233
rs142740233
Entrez Id: 57468
Gene Symbol: SLC12A5
SLC12A5
CUI: C0270850
Disease:
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
dbSNP: rs548424453
rs548424453
Entrez Id: 57468
Gene Symbol: SLC12A5
SLC12A5
CUI: C0270850
Disease:
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
dbSNP: rs548424453
rs548424453
Entrez Id: 57468
Gene Symbol: SLC12A5
SLC12A5
CUI: C4225245
Disease:
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
dbSNP: rs863225304
rs863225304
Entrez Id: 57468
Gene Symbol: SLC12A5
SLC12A5
CUI: C4225257
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 34 		0.800 GeneticVariation UNIPROT Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizures. 26333769 2015