Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs794729221
rs794729221
SLC2A1
0.925 0.240 1 42929736 stop gained G/A snv
CUI: C1847501
Disease: Glut1 Deficiency Syndrome
Glut1 Deficiency Syndrome 		0.700 1.000 1 2008 2008
dbSNP: rs794729221
rs794729221
SLC2A1
0.925 0.240 1 42929736 stop gained G/A snv
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		0.700 0