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