Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909739
rs121909739
SLC2A1
T 0.700 CausalMutation CLINVAR Familial paroxysmal exercise-induced dyskinesia and benign epilepsy: a clinical and neurophysiological study of an uncommon disorder. 11076005

2000
dbSNP: rs121909739
rs121909739
SLC2A1
T 0.700 CausalMutation CLINVAR GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak. 18451999

2008
dbSNP: rs121909739
rs121909739
SLC2A1
T 0.700 CausalMutation CLINVAR CoQ10 Deficiency Is Not a Common Finding in GLUT1 Deficiency Syndrome. 26615598

2016
dbSNP: rs121909739
rs121909739
SLC2A1
T 0.700 CausalMutation CLINVAR Paroxysmal Exercise-induced Dyskinesias Caused by GLUT1 Deficiency Syndrome. 27351150

2016
dbSNP: rs13306758
rs13306758
SLC2A1
A 0.700 CausalMutation CLINVAR The many faces of Glut1 deficiency syndrome. 23340081

2014
dbSNP: rs13306758
rs13306758
SLC2A1
A 0.700 CausalMutation CLINVAR Glucose transporter 1 deficiency in the idiopathic generalized epilepsies. 23280796

2012
dbSNP: rs1553155887
rs1553155887
SLC2A1
G 0.700 GeneticVariation CLINVAR From splitting GLUT1 deficiency syndromes to overlapping phenotypes. 26193382

2015
dbSNP: rs1553155887
rs1553155887
SLC2A1
G 0.700 GeneticVariation CLINVAR Glucose transporter 1 deficiency as a treatable cause of myoclonic astatic epilepsy. 21555602

2011
dbSNP: rs1553155887
rs1553155887
SLC2A1
G 0.700 GeneticVariation CLINVAR Allelic variations of glut-1 deficiency syndrome: the chinese experience. 22704013

2012
dbSNP: rs1553155887
rs1553155887
SLC2A1
G 0.700 GeneticVariation CLINVAR Unusual sensitivity to steroid treatment in intractable childhood epilepsy suggests GLUT1 deficiency syndrome. 22976442

2012
dbSNP: rs1553155887
rs1553155887
SLC2A1
G 0.700 GeneticVariation CLINVAR Nationwide survey of glucose transporter-1 deficiency syndrome (GLUT-1DS) in Japan. 25487684

2015
dbSNP: rs1553155986
rs1553155986
SLC2A1
T 0.700 CausalMutation CLINVAR From splitting GLUT1 deficiency syndromes to overlapping phenotypes. 26193382

2015
dbSNP: rs1553155986
rs1553155986
SLC2A1
T 0.700 CausalMutation CLINVAR Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder. 20129935

2010
dbSNP: rs1553155986
rs1553155986
SLC2A1
T 0.700 CausalMutation CLINVAR Glucose transporter type 1 deficiency syndrome (Glut1DS): methylxanthines potentiate GLUT1 haploinsufficiency in vitro. 11477212

2001
dbSNP: rs1553155986
rs1553155986
SLC2A1
T 0.700 CausalMutation CLINVAR GLUT1 gene mutations cause sporadic paroxysmal exercise-induced dyskinesias. 19630075

2009
dbSNP: rs1553155986
rs1553155986
SLC2A1
T 0.700 CausalMutation CLINVAR Glucose transporter 1 deficiency as a treatable cause of myoclonic astatic epilepsy. 21555602

2011
dbSNP: rs1553155986
rs1553155986
SLC2A1
T 0.700 CausalMutation CLINVAR The clinical and genetic heterogeneity of paroxysmal dyskinesias. 26598494

2015
dbSNP: rs1553156051
rs1553156051
SLC2A1
A 0.700 CausalMutation CLINVAR

dbSNP: rs1553156199
rs1553156199
SLC2A1
GC 0.700 CausalMutation CLINVAR Seizure control and acceptance of the ketogenic diet in GLUT1 deficiency syndrome: a 2- to 5-year follow-up of 15 children enrolled prospectively. 16217704

2005
dbSNP: rs1557646893
rs1557646893
SLC2A1
ACC 0.700 CausalMutation CLINVAR

dbSNP: rs202060209
rs202060209
SLC2A1
A 0.700 CausalMutation CLINVAR

dbSNP: rs267607059
rs267607059
SLC2A1
A 0.700 GeneticVariation CLINVAR Autosomal recessive inheritance of GLUT1 deficiency syndrome. 20221955

2009
dbSNP: rs267607059
rs267607059
SLC2A1
A 0.700 CausalMutation CLINVAR

dbSNP: rs267607059
rs267607059
SLC2A1
A 0.700 GeneticVariation CLINVAR Glut1 deficiency: inheritance pattern determined by haploinsufficiency. 20687207

2010
dbSNP: rs267607061
rs267607061
SLC2A1
A 0.700 CausalMutation CLINVAR GLUT1 deficiency without epilepsy: yet another case. 18403583

2008