Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs864309514
rs864309514
SLC2A1
0.800 GeneticVariation UNIPROT An infant with pseudohyperkalemia, hemolysis, and seizures: cation-leaky GLUT1-deficiency syndrome due to a SLC2A1 mutation. 22492876

2012
dbSNP: rs864309514
rs864309514
SLC2A1
0.800 GeneticVariation UNIPROT Stomatin-deficient cryohydrocytosis results from mutations in SLC2A1: a novel form of GLUT1 deficiency syndrome. 21791420

2011
dbSNP: rs864309514
rs864309514
SLC2A1
T 0.800 CausalMutation CLINVAR

dbSNP: rs796053272
rs796053272
SLC2A1
C 0.700 CausalMutation CLINVAR Clinical utility of genetic testing in pediatric drug-resistant epilepsy: a pilot study. 25108116

2014
dbSNP: rs13306758
rs13306758
SLC2A1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1557646867
rs1557646867
SLC2A1
CT 0.700 CausalMutation CLINVAR

dbSNP: rs796053248
rs796053248
SLC2A1
A 0.700 CausalMutation CLINVAR

dbSNP: rs80359818
rs80359818
SLC2A1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs80359825
rs80359825
SLC2A1
A 0.700 CausalMutation CLINVAR

dbSNP: rs864309522
rs864309522
SLC2A1
A 0.700 CausalMutation CLINVAR