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: rs267607061
rs267607061
SLC2A1
0.925 0.040 1 42930865 missense variant G/A;T snv 7.0E-06
CUI: C1842534
Disease: DYSTONIA 18 (disorder)
DYSTONIA 18 (disorder) 		0.800 1.000 0 2003 2011
dbSNP: rs267607061
rs267607061
SLC2A1
0.925 0.040 1 42930865 missense variant G/A;T snv 7.0E-06
CUI: C3149117
Disease: GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE
GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE 		0.700 1.000 5 2008 2013