Source: UNIPROT

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: rs121909739
rs121909739
SLC2A1
0.925 0.040 1 42929242 missense variant C/T snv
CUI: C1842534
Disease: DYSTONIA 18 (disorder)
DYSTONIA 18 (disorder) 		0.810 1.000 9 2003 2011
dbSNP: rs1553155986
rs1553155986
SLC2A1
0.827 0.280 1 42929008 missense variant C/T snv
CUI: C4551966
Disease: GLUT1 DEFICIENCY SYNDROME 1
GLUT1 DEFICIENCY SYNDROME 1 		0.800 1.000 13 1999 2018
dbSNP: rs121909740
rs121909740
SLC2A1
0.925 0.120 1 42929637 missense variant C/A;T snv 4.0E-06
CUI: C1842534
Disease: DYSTONIA 18 (disorder)
DYSTONIA 18 (disorder) 		0.800 1.000 9 2003 2011
dbSNP: rs202060209
rs202060209
SLC2A1
0.925 0.040 1 42931047 missense variant G/A;T snv 2.4E-05
CUI: C1842534
Disease: DYSTONIA 18 (disorder)
DYSTONIA 18 (disorder) 		0.800 1.000 9 2003 2011
dbSNP: rs267607060
rs267607060
SLC2A1
1.000 0.040 1 42930858 missense variant GA/AT mnv
CUI: C1842534
Disease: DYSTONIA 18 (disorder)
DYSTONIA 18 (disorder) 		0.800 1.000 9 2003 2011
dbSNP: rs267607061
rs267607061
SLC2A1
0.925 0.040 1 42930865 missense variant G/A;T snv 7.0E-06
CUI: C1842534
Disease: DYSTONIA 18 (disorder)
DYSTONIA 18 (disorder) 		0.800 1.000 9 2003 2011
dbSNP: rs397514564
rs397514564
SLC2A1
1.000 1 42929884 missense variant C/G;T snv 1.2E-05
CUI: C3553859
Disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12 		0.800 1.000 4 2009 2015
dbSNP: rs864309514
rs864309514
SLC2A1
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 		0.800 1.000 2 2011 2012
dbSNP: rs387907312
rs387907312
SLC2A1
0.882 0.200 1 42929918 missense variant G/A snv
CUI: C1832855
Disease: CHOREOATHETOSIS/SPASTICITY, EPISODIC
CHOREOATHETOSIS/SPASTICITY, EPISODIC 		0.800 1.000 1 2011 2011
dbSNP: rs13306758
rs13306758
SLC2A1
0.807 0.360 1 42927148 missense variant G/A;T snv 2.8E-03
CUI: C3553859
Disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12 		0.800 0
dbSNP: rs387907313
rs387907313
SLC2A1
1.000 1 42929766 missense variant G/A snv 4.0E-06
CUI: C3553859
Disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12 		0.800 0
dbSNP: rs398123069
rs398123069
SLC2A1
1.000 1 42927651 missense variant T/C snv
CUI: C3553859
Disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12 		0.800 0
dbSNP: rs80359818
rs80359818
SLC2A1
0.776 0.360 1 42930766 missense variant G/A snv
CUI: C1842534
Disease: DYSTONIA 18 (disorder)
DYSTONIA 18 (disorder) 		0.800 0
dbSNP: rs80359818
rs80359818
SLC2A1
0.776 0.360 1 42930766 missense variant G/A snv
CUI: C1832855
Disease: CHOREOATHETOSIS/SPASTICITY, EPISODIC
CHOREOATHETOSIS/SPASTICITY, EPISODIC 		0.800 0
dbSNP: rs80359818
rs80359818
SLC2A1
0.776 0.360 1 42930766 missense variant G/A snv
CUI: C4551966
Disease: GLUT1 DEFICIENCY SYNDROME 1
GLUT1 DEFICIENCY SYNDROME 1 		0.800 1.000 0 2002 2009
dbSNP: rs80359825
rs80359825
SLC2A1
0.790 0.360 1 42929009 missense variant G/A snv
CUI: C4551966
Disease: GLUT1 DEFICIENCY SYNDROME 1
GLUT1 DEFICIENCY SYNDROME 1 		0.800 0
dbSNP: rs121909738
rs121909738
SLC2A1
1.000 0.080 1 42929694 missense variant T/C snv 1.2E-05 5.6E-05
CUI: C4551966
Disease: GLUT1 DEFICIENCY SYNDROME 1
GLUT1 DEFICIENCY SYNDROME 1 		0.700 1.000 13 1999 2018
dbSNP: rs267607059
rs267607059
SLC2A1
0.925 0.080 1 42927118 missense variant G/A snv
CUI: C4551966
Disease: GLUT1 DEFICIENCY SYNDROME 1
GLUT1 DEFICIENCY SYNDROME 1 		0.700 1.000 13 1999 2018
dbSNP: rs886039517
rs886039517
SLC2A1
1.000 0.080 1 42929917 missense variant C/T snv
CUI: C4551966
Disease: GLUT1 DEFICIENCY SYNDROME 1
GLUT1 DEFICIENCY SYNDROME 1 		0.700 1.000 13 1999 2018
dbSNP: rs1553155986
rs1553155986
SLC2A1
0.827 0.280 1 42929008 missense variant C/T snv
CUI: C1842534
Disease: DYSTONIA 18 (disorder)
DYSTONIA 18 (disorder) 		0.700 1.000 9 2003 2011
dbSNP: rs142986731
rs142986731
SLC2A1
1.000 1 42931142 missense variant G/A snv 2.8E-05 4.2E-05
CUI: C3553859
Disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12 		0.700 1.000 4 2009 2015
dbSNP: rs201815571
rs201815571
SLC2A1
1.000 1 42931169 missense variant C/G;T snv 4.0E-06 1.4E-05
CUI: C3553859
Disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12 		0.700 1.000 4 2009 2015
dbSNP: rs1057520545
rs1057520545
SLC2A1
1.000 0.040 1 42930649 missense variant C/T snv
CUI: C1842534
Disease: DYSTONIA 18 (disorder)
DYSTONIA 18 (disorder) 		0.700 0
dbSNP: rs1187210267
rs1187210267
SLC2A1
1.000 1 42931091 missense variant A/G snv 4.0E-06
CUI: C3553859
Disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12 		0.700 0
dbSNP: rs387907312
rs387907312
SLC2A1
0.882 0.200 1 42929918 missense variant G/A snv
CUI: C4551966
Disease: GLUT1 DEFICIENCY SYNDROME 1
GLUT1 DEFICIENCY SYNDROME 1 		0.700 0