SLC2A1, solute carrier family 2 member 1, 6513

N. diseases: 687; N. variants: 76
Disease: Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly ×
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: 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: 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: 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
dbSNP: rs1557646867
rs1557646867 		0.827 0.360 1 42931159 frameshift variant -/T delins
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
dbSNP: rs796053248
rs796053248 		0.807 0.360 1 42929885 missense variant G/A;T snv 4.0E-06
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
dbSNP: rs80359818
rs80359818 		0.776 0.360 1 42930766 missense variant G/A 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 0
dbSNP: rs80359825
rs80359825 		0.790 0.360 1 42929009 missense variant G/A 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 0
dbSNP: rs864309522
rs864309522 		1.000 0.280 1 42927212 inframe deletion TGA/- delins
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