SLC2A1, solute carrier family 2 member 1, 6513

N. diseases: 34; N. variants: 55
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: rs121909739
rs121909739 		0.925 0.040 1 42929242 missense variant C/T snv
CUI: C1842534
Disease: DYSTONIA 18 (disorder)
DYSTONIA 18 (disorder) 		Nervous System Diseases 0.810 1.000 0 2003 2011
dbSNP: rs80359818
rs80359818 		0.776 0.360 1 42930766 missense variant G/A snv
CUI: C4551966
Disease: GLUT1 DEFICIENCY SYNDROME 1
GLUT1 DEFICIENCY SYNDROME 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 3 2002 2009
dbSNP: rs121909740
rs121909740 		0.925 0.120 1 42929637 missense variant C/A;T snv 4.0E-06
CUI: C1842534
Disease: DYSTONIA 18 (disorder)
DYSTONIA 18 (disorder) 		Nervous System Diseases 0.800 1.000 0 2003 2011
dbSNP: rs13306758
rs13306758 		0.807 0.360 1 42927148 missense variant G/A;T snv 2.8E-03
CUI: C3553859
Disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12 		0.800 0
dbSNP: rs1553155986
rs1553155986 		0.827 0.280 1 42929008 missense variant C/T snv
CUI: C4551966
Disease: GLUT1 DEFICIENCY SYNDROME 1
GLUT1 DEFICIENCY SYNDROME 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 0 1999 2018
dbSNP: rs202060209
rs202060209 		0.925 0.040 1 42931047 missense variant G/A;T snv 2.4E-05
CUI: C1842534
Disease: DYSTONIA 18 (disorder)
DYSTONIA 18 (disorder) 		Nervous System Diseases 0.800 1.000 0 2003 2011
dbSNP: rs267607060
rs267607060 		1.000 0.040 1 42930858 missense variant GA/AT mnv
CUI: C1842534
Disease: DYSTONIA 18 (disorder)
DYSTONIA 18 (disorder) 		Nervous System Diseases 0.800 1.000 0 2003 2011
dbSNP: rs267607061
rs267607061 		0.925 0.040 1 42930865 missense variant G/A;T snv 7.0E-06
CUI: C1842534
Disease: DYSTONIA 18 (disorder)
DYSTONIA 18 (disorder) 		Nervous System Diseases 0.800 1.000 0 2003 2011
dbSNP: rs387907312
rs387907312 		0.882 0.200 1 42929918 missense variant G/A snv
CUI: C1832855
Disease: CHOREOATHETOSIS/SPASTICITY, EPISODIC
CHOREOATHETOSIS/SPASTICITY, EPISODIC 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 0 2011 2011
dbSNP: rs387907313
rs387907313 		1.000 1 42929766 missense variant G/A snv 4.0E-06
CUI: C3553859
Disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12 		0.800 0
dbSNP: rs397514564
rs397514564 		1.000 1 42929884 missense variant C/G;T snv 1.2E-05
CUI: C3553859
Disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12 		0.800 1.000 0 2009 2015
dbSNP: rs398123069
rs398123069 		1.000 1 42927651 missense variant T/C snv
CUI: C3553859
Disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12 		0.800 0
dbSNP: rs80359818
rs80359818 		0.776 0.360 1 42930766 missense variant G/A snv
CUI: C1832855
Disease: CHOREOATHETOSIS/SPASTICITY, EPISODIC
CHOREOATHETOSIS/SPASTICITY, EPISODIC 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases 0.800 0
dbSNP: rs80359818
rs80359818 		0.776 0.360 1 42930766 missense variant G/A snv
CUI: C1842534
Disease: DYSTONIA 18 (disorder)
DYSTONIA 18 (disorder) 		Nervous System Diseases 0.800 0
dbSNP: rs80359825
rs80359825 		0.790 0.360 1 42929009 missense variant G/A snv
CUI: C4551966
Disease: GLUT1 DEFICIENCY SYNDROME 1
GLUT1 DEFICIENCY SYNDROME 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 0
dbSNP: rs864309514
rs864309514 		1.000 0.280 1 42929603 missense variant C/T snv
CUI: C1837206
Disease: Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly
Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.800 1.000 0 2011 2012
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: rs1413339367
rs1413339367 		1 42930661 stop gained G/A snv
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		Nervous System Diseases 0.700 1.000 21 1991 2016
dbSNP: rs1553156053
rs1553156053 		1.000 1 42929652 stop gained G/A snv
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		Nervous System Diseases 0.700 1.000 21 1991 2016
dbSNP: rs1553156053
rs1553156053 		1.000 1 42929652 stop gained G/A snv
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 1.000 21 1991 2016
dbSNP: rs1553156053
rs1553156053 		1.000 1 42929652 stop gained G/A snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 21 1991 2016
dbSNP: rs776095655
rs776095655 		0.827 0.160 1 42927684 missense variant C/A;T snv 4.0E-06
CUI: C3149117
Disease: GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE
GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE 		0.700 1.000 7 1997 2015
dbSNP: rs1553155986
rs1553155986 		0.827 0.280 1 42929008 missense variant C/T snv
CUI: C3149117
Disease: GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE
GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE 		0.700 1.000 6 2001 2015
dbSNP: rs796053263
rs796053263 		1.000 1 42927685 missense variant G/A snv
CUI: C3149117
Disease: GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE
GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE 		0.700 1.000 6 2011 2016
dbSNP: rs1553155887
rs1553155887 		1.000 1 42927704 frameshift variant T/- delins
CUI: C3149117
Disease: GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE
GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE 		0.700 1.000 5 2011 2015