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