rs1557644984, 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.
Absence Seizures
CUI: C4316903
Disease: Absence Seizures
8 0.925 0.080 1 42927622 missense variant A/G snv 0.700 0
Gait Ataxia
CUI: C0751837
Disease: Gait Ataxia
17 0.925 0.080 1 42927622 missense variant A/G snv 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.925 0.080 1 42927622 missense variant A/G snv 0.700 0
GLUT1 DEFICIENCY SYNDROME 1
CUI: C4551966
Disease: GLUT1 DEFICIENCY SYNDROME 1
35 0.925 0.080 1 42927622 missense variant A/G snv 0.700 0
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.925 0.080 1 42927622 missense variant A/G snv 0.700 0