SLC2A1, solute carrier family 2 member 1, 6513

N. diseases: 34; N. variants: 55
Source: CLINVAR ×
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909739
rs121909739
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C1842534
Disease:
DYSTONIA 18 (disorder) 		T 0.810 CausalMutation CLINVAR
dbSNP: rs80359818
rs80359818
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C4551966
Disease:
GLUT1 DEFICIENCY SYNDROME 1 		A 0.800 CausalMutation CLINVAR Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1. 19798636 2009
dbSNP: rs80359818
rs80359818
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C4551966
Disease:
GLUT1 DEFICIENCY SYNDROME 1 		A 0.800 CausalMutation CLINVAR Disease-associated Glut1 single amino acid substitute mutations S66F, R126C, and T295M constitute Glut1-deficiency states in vitro. 17052934 2007
dbSNP: rs80359818
rs80359818
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C4551966
Disease:
GLUT1 DEFICIENCY SYNDROME 1 		A 0.800 CausalMutation CLINVAR Imaging the metabolic footprint of Glut1 deficiency on the brain. 12325075 2002
dbSNP: rs121909740
rs121909740
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C1842534
Disease:
DYSTONIA 18 (disorder) 		T 0.800 CausalMutation CLINVAR
dbSNP: rs13306758
rs13306758
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C3553859
Disease:
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12 		A 0.800 GeneticVariation CLINVAR
dbSNP: rs13306758
rs13306758
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C3553859
Disease:
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12 		A 0.800 SusceptibilityMutation CLINVAR
dbSNP: rs1553155986
rs1553155986
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C4551966
Disease:
GLUT1 DEFICIENCY SYNDROME 1 		T 0.800 GeneticVariation CLINVAR
dbSNP: rs202060209
rs202060209
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C1842534
Disease:
DYSTONIA 18 (disorder) 		A 0.800 CausalMutation CLINVAR
dbSNP: rs267607060
rs267607060
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C1842534
Disease:
DYSTONIA 18 (disorder) 		AT 0.800 CausalMutation CLINVAR
dbSNP: rs267607061
rs267607061
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C1842534
Disease:
DYSTONIA 18 (disorder) 		A 0.800 CausalMutation CLINVAR
dbSNP: rs387907312
rs387907312
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C1832855
Disease:
CHOREOATHETOSIS/SPASTICITY, EPISODIC 		A 0.800 CausalMutation CLINVAR
dbSNP: rs387907313
rs387907313
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C3553859
Disease:
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12 		A 0.800 SusceptibilityMutation CLINVAR
dbSNP: rs397514564
rs397514564
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C3553859
Disease:
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12 		G 0.800 SusceptibilityMutation CLINVAR
dbSNP: rs398123069
rs398123069
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C3553859
Disease:
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12 		C 0.800 SusceptibilityMutation CLINVAR
dbSNP: rs80359818
rs80359818
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C1842534
Disease:
DYSTONIA 18 (disorder) 		A 0.800 CausalMutation CLINVAR
dbSNP: rs80359818
rs80359818
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C1832855
Disease:
CHOREOATHETOSIS/SPASTICITY, EPISODIC 		A 0.800 CausalMutation CLINVAR
dbSNP: rs80359825
rs80359825
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C4551966
Disease:
GLUT1 DEFICIENCY SYNDROME 1 		A 0.800 CausalMutation CLINVAR
dbSNP: rs864309514
rs864309514
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C1837206
Disease:
Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly 		T 0.800 CausalMutation CLINVAR
dbSNP: rs80359825
rs80359825
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C1847501
Disease:
Glut1 Deficiency Syndrome 		A 0.710 GeneticVariation CLINVAR
dbSNP: rs1553155982
rs1553155982
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C0376532
Disease:
Epilepsy, Rolandic 		A 0.700 CausalMutation CLINVAR Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy. 29358611 2018
dbSNP: rs869312673
rs869312673
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C3149117
Disease:
GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE 		T 0.700 CausalMutation CLINVAR Genomic diagnosis for children with intellectual disability and/or developmental delay. 28554332 2017
dbSNP: rs121909739
rs121909739
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C3149117
Disease:
GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE 		T 0.700 CausalMutation CLINVAR Paroxysmal Exercise-induced Dyskinesias Caused by GLUT1 Deficiency Syndrome. 27351150 2016
dbSNP: rs121909739
rs121909739
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C3149117
Disease:
GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE 		T 0.700 CausalMutation CLINVAR CoQ10 Deficiency Is Not a Common Finding in GLUT1 Deficiency Syndrome. 26615598 2016
dbSNP: rs1413339367
rs1413339367
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C0026650
Disease:
Movement Disorders 		A 0.700 CausalMutation CLINVAR Glut1 deficiency syndrome: Absence epilepsy and La Soupe du Jour. 26336901 2016