rs796053248, SLC2A1

N. diseases: 6
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.
CHOREOATHETOSIS/SPASTICITY, EPISODIC
CUI: C1832855
Disease: CHOREOATHETOSIS/SPASTICITY, EPISODIC
7 0.807 0.360 1 42929885 missense variant G/A;T snv 4.0E-06 0.700 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 0.807 0.360 1 42929885 missense variant G/A;T snv 4.0E-06 0.700 0
DYSTONIA 18 (disorder)
CUI: C1842534
Disease: DYSTONIA 18 (disorder)
19 0.807 0.360 1 42929885 missense variant G/A;T snv 4.0E-06 0.700 0
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12
CUI: C3553859
Disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12
11 0.807 0.360 1 42929885 missense variant G/A;T snv 4.0E-06 0.700 0
GLUT1 DEFICIENCY SYNDROME 1
CUI: C4551966
Disease: GLUT1 DEFICIENCY SYNDROME 1
35 0.807 0.360 1 42929885 missense variant G/A;T snv 4.0E-06 0.700 0
GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE
CUI: C3149117
Disease: GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE
19 0.807 0.360 1 42929885 missense variant G/A;T snv 4.0E-06 0.700 0