rs878853161, SLC2A1

N. diseases: 7
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.
Autism Spectrum Disorders
CUI: C1510586
Disease: Autism Spectrum Disorders
331 0.851 0.240 1 42929977 frameshift variant AT/- del 0.700 0
Congenital anomaly of face
CUI: C0266617
Disease: Congenital anomaly of face
7 0.851 0.240 1 42929977 frameshift variant AT/- del 0.700 0
Dystonia
CUI: C0013421
Disease: Dystonia
97 0.851 0.240 1 42929977 frameshift variant AT/- del 0.700 0
GLUT1 DEFICIENCY SYNDROME 1
CUI: C4551966
Disease: GLUT1 DEFICIENCY SYNDROME 1
35 0.851 0.240 1 42929977 frameshift variant AT/- del 0.700 0
Moderate intellectual disability
CUI: C0026351
Disease: Moderate intellectual disability
94 0.851 0.240 1 42929977 frameshift variant AT/- del 0.700 0
Seizures
CUI: C0036572
Disease: Seizures
553 0.851 0.240 1 42929977 frameshift variant AT/- del 0.700 0
Speech Delay
CUI: C0241210
Disease: Speech Delay
11 0.851 0.240 1 42929977 frameshift variant AT/- del 0.700 0