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: rs6094239
rs6094239
Entrez Id: 57468
Gene Symbol: SLC12A5
SLC12A5
CUI: C2985280
Disease:
Blood Protein Measurement 		A 0.700 GeneticVariation GWASCAT Co-regulatory networks of human serum proteins link genetics to disease. 30072576 2018
dbSNP: rs1397360375
rs1397360375
Entrez Id: 57468;105372632;109729184
Gene Symbol: SLC12A5;LOC105372632;SLC12A5-AS1
SLC12A5;LOC105372632;SLC12A5-AS1
CUI: C4518639
Disease:
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
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 Regulatory domain or CpG site variation in SLC12A5, encoding the chloride transporter KCC2, in human autism and schizophrenia. 26528127 2015
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: 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 Regulatory domain or CpG site variation in SLC12A5, encoding the chloride transporter KCC2, in human autism and schizophrenia. 26528127 2015
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: rs863225304
rs863225304
Entrez Id: 57468
Gene Symbol: SLC12A5
SLC12A5
CUI: C4225257
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 34 		C 0.800 CausalMutation CLINVAR
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
dbSNP: rs863225305
rs863225305
Entrez Id: 57468
Gene Symbol: SLC12A5
SLC12A5
CUI: C4225257
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 34 		A 0.800 CausalMutation CLINVAR
dbSNP: rs863225305
rs863225305
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
dbSNP: rs863225306
rs863225306
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 		0.800 GeneticVariation UNIPROT Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizures. 26333769 2015
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