Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs796053248
rs796053248
SLC2A1
0.807 0.360 1 42929885 missense variant G/A;T snv 4.0E-06
CUI: C4551966
Disease: GLUT1 DEFICIENCY SYNDROME 1
GLUT1 DEFICIENCY SYNDROME 1 		0.700 0
dbSNP: rs796053248
rs796053248
SLC2A1
0.807 0.360 1 42929885 missense variant G/A;T snv 4.0E-06
CUI: C1842534
Disease: DYSTONIA 18 (disorder)
DYSTONIA 18 (disorder) 		0.700 0
dbSNP: rs796053248
rs796053248
SLC2A1
0.807 0.360 1 42929885 missense variant G/A;T snv 4.0E-06
CUI: C1832855
Disease: CHOREOATHETOSIS/SPASTICITY, EPISODIC
CHOREOATHETOSIS/SPASTICITY, EPISODIC 		0.700 0
dbSNP: rs796053248
rs796053248
SLC2A1
0.807 0.360 1 42929885 missense variant G/A;T snv 4.0E-06
CUI: C3149117
Disease: GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE
GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs796053248
rs796053248
SLC2A1
0.807 0.360 1 42929885 missense variant G/A;T snv 4.0E-06
CUI: C3553859
Disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12 		0.700 0
dbSNP: rs796053248
rs796053248
SLC2A1
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 		0.700 0