rs776095655, 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, AUTOSOMAL RECESSIVE
CUI: C3149117
Disease: GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE
19 0.827 0.160 1 42927684 missense variant C/A;T snv 4.0E-06 0.700 1.000 7 1997 2015
Broad-based gait
CUI: C0856863
Disease: Broad-based gait
24 0.827 0.160 1 42927684 missense variant C/A;T snv 4.0E-06 0.700 1.000 3 2011 2015
Esotropia
CUI: C0014877
Disease: Esotropia
39 0.827 0.160 1 42927684 missense variant C/A;T snv 4.0E-06 0.700 1.000 3 2011 2015
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.827 0.160 1 42927684 missense variant C/A;T snv 4.0E-06 0.700 1.000 3 2011 2015
GLUT1 DEFICIENCY SYNDROME 1
CUI: C4551966
Disease: GLUT1 DEFICIENCY SYNDROME 1
35 0.827 0.160 1 42927684 missense variant C/A;T snv 4.0E-06 0.700 1.000 3 2011 2015
Movement Disorders
CUI: C0026650
Disease: Movement Disorders
247 0.827 0.160 1 42927684 missense variant C/A;T snv 4.0E-06 0.700 1.000 3 2011 2015
Seizures
CUI: C0036572
Disease: Seizures
553 0.827 0.160 1 42927684 missense variant C/A;T snv 4.0E-06 0.700 1.000 3 2011 2015
Myoclonic Epilepsy
CUI: C0014550
Disease: Myoclonic Epilepsy
9 0.827 0.160 1 42927684 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2011 2011