SLC2A1, solute carrier family 2 member 1, 6513

N. diseases: 34; N. variants: 55
Disease: Glut1 Deficiency Syndrome ×
Source: CLINVAR ×
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs80359825
rs80359825 		0.790 0.360 1 42929009 missense variant G/A snv
CUI: C1847501
Disease: Glut1 Deficiency Syndrome
Glut1 Deficiency Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.710 1.000 0 2011 2011
dbSNP: rs794729221
rs794729221 		0.925 0.240 1 42929736 stop gained G/A snv
CUI: C1847501
Disease: Glut1 Deficiency Syndrome
Glut1 Deficiency Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 1 2008 2008
dbSNP: rs1345986424
rs1345986424 		0.851 0.160 1 42943291 stop gained C/A;T snv
CUI: C1847501
Disease: Glut1 Deficiency Syndrome
Glut1 Deficiency Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs80359819
rs80359819 		0.925 0.080 1 42930754 missense variant C/G;T snv
CUI: C1847501
Disease: Glut1 Deficiency Syndrome
Glut1 Deficiency Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0