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: rs776095655
rs776095655
SLC2A1
0.827 0.160 1 42927684 missense variant C/A;T snv 4.0E-06
CUI: C3149117
Disease: GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE
GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE 		0.700 1.000 7 1997 2015
dbSNP: rs776095655
rs776095655
SLC2A1
0.827 0.160 1 42927684 missense variant C/A;T snv 4.0E-06
CUI: C4551966
Disease: GLUT1 DEFICIENCY SYNDROME 1
GLUT1 DEFICIENCY SYNDROME 1 		0.700 1.000 3 2011 2015
dbSNP: rs776095655
rs776095655
SLC2A1
0.827 0.160 1 42927684 missense variant C/A;T snv 4.0E-06
CUI: C0014877
Disease: Esotropia
Esotropia 		0.700 1.000 3 2011 2015
dbSNP: rs776095655
rs776095655
SLC2A1
0.827 0.160 1 42927684 missense variant C/A;T snv 4.0E-06
CUI: C0036572
Disease: Seizures
Seizures 		0.700 1.000 3 2011 2015
dbSNP: rs776095655
rs776095655
SLC2A1
0.827 0.160 1 42927684 missense variant C/A;T snv 4.0E-06
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 1.000 3 2011 2015
dbSNP: rs776095655
rs776095655
SLC2A1
0.827 0.160 1 42927684 missense variant C/A;T snv 4.0E-06
CUI: C0856863
Disease: Broad-based gait
Broad-based gait 		0.700 1.000 3 2011 2015
dbSNP: rs776095655
rs776095655
SLC2A1
0.827 0.160 1 42927684 missense variant C/A;T snv 4.0E-06
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.700 1.000 3 2011 2015