rs80359818, SLC2A1

N. diseases: 8
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
GLUT1 DEFICIENCY SYNDROME 1
CUI: C4551966
Disease: GLUT1 DEFICIENCY SYNDROME 1
35 0.776 0.360 1 42930766 missense variant G/A snv 0.800 1.000 3 2002 2009
CHOREOATHETOSIS/SPASTICITY, EPISODIC
CUI: C1832855
Disease: CHOREOATHETOSIS/SPASTICITY, EPISODIC
7 0.776 0.360 1 42930766 missense variant G/A snv 0.800 0
DYSTONIA 18 (disorder)
CUI: C1842534
Disease: DYSTONIA 18 (disorder)
19 0.776 0.360 1 42930766 missense variant G/A snv 0.800 0
Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly
CUI: C1837206
Disease: Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly
8 0.776 0.360 1 42930766 missense variant G/A snv 0.700 0
GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE
CUI: C3149117
Disease: GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE
19 0.776 0.360 1 42930766 missense variant G/A snv 0.700 0
Glut1 Deficiency Syndrome
CUI: C1847501
Disease: Glut1 Deficiency Syndrome
7 0.776 0.360 1 42930766 missense variant G/A snv 0.010 1.000 1 2011 2011
Myoclonic Absence Epilepsy
CUI: C0393703
Disease: Myoclonic Absence Epilepsy
1 0.776 0.360 1 42930766 missense variant G/A snv 0.010 1.000 1 2011 2011
Myoclonic absences
CUI: C4023512
Disease: Myoclonic absences
2 0.776 0.360 1 42930766 missense variant G/A snv 0.010 1.000 1 2011 2011