rs794729221, 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 0.240 1 42929736 stop gained G/A snv 0.700 1.000 1 2008 2008
Mental Retardation
CUI: C0025362
Disease: Mental Retardation
98 0.925 0.240 1 42929736 stop gained G/A snv 0.700 0