Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs869312673
rs869312673
SLC2A1
T 0.700 CausalMutation CLINVAR Genomic diagnosis for children with intellectual disability and/or developmental delay. 28554332

2017
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: rs796053263
rs796053263
SLC2A1
A 0.700 CausalMutation CLINVAR Glucose transport 1 deficiency presenting as infantile spasms with a mutation identified in exon 9 of SLC2A1. 28018440

2016
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 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 The clinical and genetic heterogeneity of paroxysmal dyskinesias. 26598494

2015
dbSNP: rs776095655
rs776095655
SLC2A1
T 0.700 CausalMutation CLINVAR Nationwide survey of glucose transporter-1 deficiency syndrome (GLUT-1DS) in Japan. 25487684

2015
dbSNP: rs776095655
rs776095655
SLC2A1
A 0.700 CausalMutation CLINVAR From splitting GLUT1 deficiency syndromes to overlapping phenotypes. 26193382

2015
dbSNP: rs776095655
rs776095655
SLC2A1
A 0.700 CausalMutation CLINVAR Nationwide survey of glucose transporter-1 deficiency syndrome (GLUT-1DS) in Japan. 25487684

2015
dbSNP: rs796053263
rs796053263
SLC2A1
A 0.700 CausalMutation CLINVAR From splitting GLUT1 deficiency syndromes to overlapping phenotypes. 26193382

2015
dbSNP: rs796053263
rs796053263
SLC2A1
A 0.700 CausalMutation CLINVAR Nationwide survey of glucose transporter-1 deficiency syndrome (GLUT-1DS) in Japan. 25487684

2015
dbSNP: rs869312673
rs869312673
SLC2A1
T 0.700 CausalMutation CLINVAR From splitting GLUT1 deficiency syndromes to overlapping phenotypes. 26193382

2015
dbSNP: rs13306758
rs13306758
SLC2A1
A 0.700 CausalMutation CLINVAR The many faces of Glut1 deficiency syndrome. 23340081

2014
dbSNP: rs267607061
rs267607061
SLC2A1
A 0.700 CausalMutation CLINVAR Good outcome in patients with early dietary treatment of GLUT-1 deficiency syndrome: results from a retrospective Norwegian study. 23448551

2013
dbSNP: rs869312673
rs869312673
SLC2A1
T 0.700 CausalMutation CLINVAR Reversible white matter lesions during ketogenic diet therapy in glucose transporter 1 deficiency syndrome. 24080273

2013
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 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: rs267607061
rs267607061
SLC2A1
A 0.700 CausalMutation CLINVAR Early onset absence epilepsy: 1 in 10 cases is caused by GLUT1 deficiency. 23106342

2012
dbSNP: rs776095655
rs776095655
SLC2A1
A 0.700 CausalMutation CLINVAR Unusual sensitivity to steroid treatment in intractable childhood epilepsy suggests GLUT1 deficiency syndrome. 22976442

2012
dbSNP: rs776095655
rs776095655
SLC2A1
A 0.700 CausalMutation CLINVAR Allelic variations of glut-1 deficiency syndrome: the chinese experience. 22704013

2012
dbSNP: rs796053263
rs796053263
SLC2A1
A 0.700 CausalMutation CLINVAR Unusual sensitivity to steroid treatment in intractable childhood epilepsy suggests GLUT1 deficiency syndrome. 22976442

2012
dbSNP: rs796053263
rs796053263
SLC2A1
A 0.700 CausalMutation CLINVAR Allelic variations of glut-1 deficiency syndrome: the chinese experience. 22704013

2012