rs80359819, SLC2A1

N. diseases: 2
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
CUI: C1847501
Disease: Glut1 Deficiency Syndrome
7 0.925 0.080 1 42930754 missense variant C/G;T snv 0.700 0
GLUT1 DEFICIENCY SYNDROME 1
CUI: C4551966
Disease: GLUT1 DEFICIENCY SYNDROME 1
35 0.925 0.080 1 42930754 missense variant C/G;T snv 0.700 0