SLC2A1, solute carrier family 2 member 1, 6513

N. diseases: 687; N. variants: 76
Source: ALL
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: rs3806400
rs3806400 		1.000 1 42960707 intron variant C/A;T snv
CUI: C0376705
Disease: Viral Load result
Viral Load result 		0.700 1.000 1 2019 2019
dbSNP: rs3806400
rs3806400 		1.000 1 42960707 intron variant C/A;T snv
CUI: C1836230
Disease: HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO
HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO 		0.700 1.000 1 2019 2019
dbSNP: rs387907312
rs387907312 		0.882 0.200 1 42929918 missense variant G/A snv
CUI: C3149117
Disease: GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE
GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE 		0.700 1.000 1 2011 2011
dbSNP: rs6657798
rs6657798 		1 42942608 intron variant C/G;T snv 0.23
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2019 2019
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: rs796053272
rs796053272 		0.827 0.360 1 42943323 splice acceptor variant T/C snv
CUI: C3553859
Disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12 		0.700 1.000 1 2014 2014
dbSNP: rs796053272
rs796053272 		0.827 0.360 1 42943323 splice acceptor variant T/C snv
CUI: C4551966
Disease: GLUT1 DEFICIENCY SYNDROME 1
GLUT1 DEFICIENCY SYNDROME 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 1 2014 2014
dbSNP: rs796053272
rs796053272 		0.827 0.360 1 42943323 splice acceptor variant T/C snv
CUI: C1832855
Disease: CHOREOATHETOSIS/SPASTICITY, EPISODIC
CHOREOATHETOSIS/SPASTICITY, EPISODIC 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 1 2014 2014
dbSNP: rs796053272
rs796053272 		0.827 0.360 1 42943323 splice acceptor variant T/C snv
CUI: C1842534
Disease: DYSTONIA 18 (disorder)
DYSTONIA 18 (disorder) 		Nervous System Diseases 0.700 1.000 1 2014 2014
dbSNP: rs796053272
rs796053272 		0.827 0.360 1 42943323 splice acceptor variant T/C 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 0.700 1.000 1 2014 2014
dbSNP: rs80359826
rs80359826 		0.807 0.120 1 42929018 stop gained G/A;T snv 4.0E-06
CUI: C4551966
Disease: GLUT1 DEFICIENCY SYNDROME 1
GLUT1 DEFICIENCY SYNDROME 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 1 2000 2000
dbSNP: rs80359826
rs80359826 		0.807 0.120 1 42929018 stop gained G/A;T snv 4.0E-06
CUI: C1842534
Disease: DYSTONIA 18 (disorder)
DYSTONIA 18 (disorder) 		Nervous System Diseases 0.700 1.000 1 2000 2000
dbSNP: rs1057518821
rs1057518821 		1.000 1 42930671 frameshift variant -/C delins
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1057518821
rs1057518821 		1.000 1 42930671 frameshift variant -/C delins
CUI: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1057518821
rs1057518821 		1.000 1 42930671 frameshift variant -/C delins
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0
dbSNP: rs1057518821
rs1057518821 		1.000 1 42930671 frameshift variant -/C delins
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1057518821
rs1057518821 		1.000 1 42930671 frameshift variant -/C delins
CUI: C0027066
Disease: Myoclonus
Myoclonus 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1057518953
rs1057518953 		1 42930742 missense variant C/T snv
CUI: C0393588
Disease: Dystonia, Paroxysmal
Dystonia, Paroxysmal 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1057520545
rs1057520545 		1.000 0.040 1 42930649 missense variant C/T snv
CUI: C1842534
Disease: DYSTONIA 18 (disorder)
DYSTONIA 18 (disorder) 		Nervous System Diseases 0.700 0
dbSNP: rs1187210267
rs1187210267 		1.000 1 42931091 missense variant A/G snv 4.0E-06
CUI: C3553859
Disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12 		0.700 0
dbSNP: rs121909740
rs121909740 		0.925 0.120 1 42929637 missense variant C/A;T snv 4.0E-06
CUI: C4551966
Disease: GLUT1 DEFICIENCY SYNDROME 1
GLUT1 DEFICIENCY SYNDROME 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs13306758
rs13306758 		0.807 0.360 1 42927148 missense variant G/A;T snv 2.8E-03
CUI: C1842534
Disease: DYSTONIA 18 (disorder)
DYSTONIA 18 (disorder) 		Nervous System Diseases 0.700 0
dbSNP: rs13306758
rs13306758 		0.807 0.360 1 42927148 missense variant G/A;T snv 2.8E-03
CUI: C1832855
Disease: CHOREOATHETOSIS/SPASTICITY, EPISODIC
CHOREOATHETOSIS/SPASTICITY, EPISODIC 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs13306758
rs13306758 		0.807 0.360 1 42927148 missense variant G/A;T snv 2.8E-03
CUI: C4551966
Disease: GLUT1 DEFICIENCY SYNDROME 1
GLUT1 DEFICIENCY SYNDROME 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs13306758
rs13306758 		0.807 0.360 1 42927148 missense variant G/A;T snv 2.8E-03
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 0.700 0