Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909739
rs121909739
SLC2A1
CUI: C1842534
Disease: DYSTONIA 18 (disorder)
DYSTONIA 18 (disorder) 		T 0.810 CausalMutation CLINVAR

dbSNP: rs121909740
rs121909740
SLC2A1
CUI: C1842534
Disease: DYSTONIA 18 (disorder)
DYSTONIA 18 (disorder) 		T 0.800 CausalMutation CLINVAR

dbSNP: rs13306758
rs13306758
SLC2A1
CUI: C3553859
Disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12 		A 0.800 GeneticVariation CLINVAR

dbSNP: rs13306758
rs13306758
SLC2A1
CUI: C3553859
Disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12 		A 0.800 SusceptibilityMutation CLINVAR

dbSNP: rs1553155986
rs1553155986
SLC2A1
CUI: C4551966
Disease: GLUT1 DEFICIENCY SYNDROME 1
GLUT1 DEFICIENCY SYNDROME 1 		T 0.800 GeneticVariation CLINVAR

dbSNP: rs202060209
rs202060209
SLC2A1
CUI: C1842534
Disease: DYSTONIA 18 (disorder)
DYSTONIA 18 (disorder) 		A 0.800 CausalMutation CLINVAR

dbSNP: rs267607060
rs267607060
SLC2A1
CUI: C1842534
Disease: DYSTONIA 18 (disorder)
DYSTONIA 18 (disorder) 		AT 0.800 CausalMutation CLINVAR

dbSNP: rs267607061
rs267607061
SLC2A1
CUI: C1842534
Disease: DYSTONIA 18 (disorder)
DYSTONIA 18 (disorder) 		A 0.800 CausalMutation CLINVAR

dbSNP: rs387907312
rs387907312
SLC2A1
CUI: C1832855
Disease: CHOREOATHETOSIS/SPASTICITY, EPISODIC
CHOREOATHETOSIS/SPASTICITY, EPISODIC 		A 0.800 CausalMutation CLINVAR

dbSNP: rs387907313
rs387907313
SLC2A1
CUI: C3553859
Disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12 		A 0.800 SusceptibilityMutation CLINVAR

dbSNP: rs397514564
rs397514564
SLC2A1
CUI: C3553859
Disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12 		G 0.800 SusceptibilityMutation CLINVAR

dbSNP: rs398123069
rs398123069
SLC2A1
CUI: C3553859
Disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12 		C 0.800 SusceptibilityMutation CLINVAR

dbSNP: rs80359818
rs80359818
SLC2A1
CUI: C4551966
Disease: GLUT1 DEFICIENCY SYNDROME 1
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
SLC2A1
CUI: C4551966
Disease: GLUT1 DEFICIENCY SYNDROME 1
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
SLC2A1
CUI: C4551966
Disease: GLUT1 DEFICIENCY SYNDROME 1
GLUT1 DEFICIENCY SYNDROME 1 		A 0.800 CausalMutation CLINVAR Imaging the metabolic footprint of Glut1 deficiency on the brain. 12325075

2002
dbSNP: rs80359818
rs80359818
SLC2A1
CUI: C1842534
Disease: DYSTONIA 18 (disorder)
DYSTONIA 18 (disorder) 		A 0.800 CausalMutation CLINVAR

dbSNP: rs80359818
rs80359818
SLC2A1
CUI: C1832855
Disease: CHOREOATHETOSIS/SPASTICITY, EPISODIC
CHOREOATHETOSIS/SPASTICITY, EPISODIC 		A 0.800 CausalMutation CLINVAR

dbSNP: rs80359825
rs80359825
SLC2A1
CUI: C4551966
Disease: GLUT1 DEFICIENCY SYNDROME 1
GLUT1 DEFICIENCY SYNDROME 1 		A 0.800 CausalMutation CLINVAR

dbSNP: rs864309514
rs864309514
SLC2A1
CUI: C1837206
Disease: Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly
Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly 		T 0.800 CausalMutation CLINVAR

dbSNP: rs80359825
rs80359825
SLC2A1
CUI: C1847501
Disease: Glut1 Deficiency Syndrome
Glut1 Deficiency Syndrome 		A 0.710 GeneticVariation CLINVAR

dbSNP: rs1057518821
rs1057518821
SLC2A1
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		GC 0.700 CausalMutation CLINVAR

dbSNP: rs1057518821
rs1057518821
SLC2A1
CUI: C0027066
Disease: Myoclonus
Myoclonus 		GC 0.700 CausalMutation CLINVAR

dbSNP: rs1057518821
rs1057518821
SLC2A1
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		GC 0.700 CausalMutation CLINVAR

dbSNP: rs1057518821
rs1057518821
SLC2A1
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		GC 0.700 CausalMutation CLINVAR

dbSNP: rs1057518821
rs1057518821
SLC2A1
CUI: C0036572
Disease: Seizures
Seizures 		GC 0.700 CausalMutation CLINVAR