rs796053272, SLC2A1

N. diseases: 5
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 0.827 0.360 1 42943323 splice acceptor variant T/C snv 0.700 1.000 1 2014 2014
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 0.827 0.360 1 42943323 splice acceptor variant T/C snv 0.700 1.000 1 2014 2014
DYSTONIA 18 (disorder)
CUI: C1842534
Disease: DYSTONIA 18 (disorder)
19 0.827 0.360 1 42943323 splice acceptor variant T/C snv 0.700 1.000 1 2014 2014
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12
CUI: C3553859
Disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12
11 0.827 0.360 1 42943323 splice acceptor variant T/C snv 0.700 1.000 1 2014 2014
GLUT1 DEFICIENCY SYNDROME 1
CUI: C4551966
Disease: GLUT1 DEFICIENCY SYNDROME 1
35 0.827 0.360 1 42943323 splice acceptor variant T/C snv 0.700 1.000 1 2014 2014