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: 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: rs841853
rs841853 		0.882 0.200 1 42935767 intron variant A/C snv 0.66
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.030 1.000 3 2013 2019
dbSNP: rs2229682
rs2229682 		1.000 0.080 1 42929964 synonymous variant C/G;T snv 4.0E-06; 0.18
CUI: C0025312
Disease: Meningomyelocele
Meningomyelocele 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs13306758
rs13306758 		0.807 0.360 1 42927148 missense variant G/A;T snv 2.8E-03
CUI: C3149117
Disease: GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE
GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE 		0.700 1.000 2 2012 2014
dbSNP: rs841853
rs841853 		0.882 0.200 1 42935767 intron variant A/C snv 0.66
CUI: C0011881
Disease: Diabetic Nephropathy
Diabetic Nephropathy 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.020 1.000 2 2012 2018
dbSNP: rs841853
rs841853 		0.882 0.200 1 42935767 intron variant A/C snv 0.66
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.010 1.000 1 2012 2012
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
dbSNP: rs869312673
rs869312673 		1.000 1 42930036 splice acceptor variant C/G;T snv
CUI: C3149117
Disease: GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE
GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE 		0.700 1.000 4 2011 2017
dbSNP: rs776095655
rs776095655 		0.827 0.160 1 42927684 missense variant C/A;T snv 4.0E-06
CUI: C0014877
Disease: Esotropia
Esotropia 		Eye Diseases; Nervous System Diseases 0.700 1.000 3 2011 2015
dbSNP: rs776095655
rs776095655 		0.827 0.160 1 42927684 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 1.000 3 2011 2015
dbSNP: rs776095655
rs776095655 		0.827 0.160 1 42927684 missense variant C/A;T snv 4.0E-06
CUI: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 3 2011 2015
dbSNP: rs776095655
rs776095655 		0.827 0.160 1 42927684 missense variant C/A;T snv 4.0E-06
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		Nervous System Diseases 0.700 1.000 3 2011 2015
dbSNP: rs776095655
rs776095655 		0.827 0.160 1 42927684 missense variant C/A;T snv 4.0E-06
CUI: C0856863
Disease: Broad-based gait
Broad-based gait 		0.700 1.000 3 2011 2015
dbSNP: rs776095655
rs776095655 		0.827 0.160 1 42927684 missense variant C/A;T snv 4.0E-06
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 1.000 3 2011 2015
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 2 2011 2012
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: 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 1 2011 2011
dbSNP: rs776095655
rs776095655 		0.827 0.160 1 42927684 missense variant C/A;T snv 4.0E-06
CUI: C0014550
Disease: Myoclonic Epilepsy
Myoclonic Epilepsy 		Nervous System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs80359818
rs80359818 		0.776 0.360 1 42930766 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 0.010 1.000 1 2011 2011
dbSNP: rs80359818
rs80359818 		0.776 0.360 1 42930766 missense variant G/A snv
CUI: C0393703
Disease: Myoclonic Absence Epilepsy
Myoclonic Absence Epilepsy 		Nervous System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs80359818
rs80359818 		0.776 0.360 1 42930766 missense variant G/A snv
CUI: C4023512
Disease: Myoclonic absences
Myoclonic absences 		0.010 1.000 1 2011 2011
dbSNP: rs80359823
rs80359823 		0.882 0.080 1 42929298 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 0.010 1.000 1 2011 2011
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 1 2011 2011