Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80359825
rs80359825
SLC2A1
0.710 GeneticVariation BEFREE The corresponding mutations in GLUT1 (R153C and R333W) are known to cause GLUT1 deficiency syndrome because arginine residues in this motif are reportedly important as the determinants of the membrane topology of human GLUT1. 22132964

2011
dbSNP: rs80359825
rs80359825
SLC2A1
A 0.710 GeneticVariation CLINVAR

dbSNP: rs794729221
rs794729221
SLC2A1
A 0.700 CausalMutation CLINVAR Paroxysmal movement disorders in GLUT1 deficiency syndrome. 18606970

2008
dbSNP: rs1345986424
rs1345986424
SLC2A1
A 0.700 CausalMutation CLINVAR

dbSNP: rs80359819
rs80359819
SLC2A1
T 0.700 CausalMutation CLINVAR

dbSNP: rs80359818
rs80359818
SLC2A1
0.010 GeneticVariation BEFREE Video/EEG recording of myoclonic absences in GLUT1 deficiency syndrome with a hot-spot R126C mutation in the SLC2A1 gene. 21546317

2011
dbSNP: rs80359823
rs80359823
SLC2A1
0.010 GeneticVariation BEFREE T295M-associated Glut1 deficiency syndrome with normal erythrocyte 3-OMG uptake. 20630673

2011
dbSNP: rs80359816
rs80359816
SLC2A1
0.010 GeneticVariation BEFREE These studies demonstrate the pathogenicity of the R126H missense mutation and transmission of Glut-1 deficiency syndrome as an autosomal dominant trait. 11603379

2001