SLC2A1, solute carrier family 2 member 1, 6513

N. diseases: 34; N. variants: 55
Disease: GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE ×
Source: CLINVAR ×
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs776095655
rs776095655 		0.827 0.160 1 42927684 missense variant C/A;T snv 4.0E-06
CUI: C3149117
Disease: GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE
GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE 		0.700 1.000 7 1997 2015
dbSNP: rs1553155986
rs1553155986 		0.827 0.280 1 42929008 missense variant C/T snv
CUI: C3149117
Disease: GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE
GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE 		0.700 1.000 6 2001 2015
dbSNP: rs796053263
rs796053263 		1.000 1 42927685 missense variant G/A snv
CUI: C3149117
Disease: GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE
GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE 		0.700 1.000 6 2011 2016
dbSNP: rs1553155887
rs1553155887 		1.000 1 42927704 frameshift variant T/- delins
CUI: C3149117
Disease: GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE
GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE 		0.700 1.000 5 2011 2015
dbSNP: rs267607061
rs267607061 		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
dbSNP: rs121909739
rs121909739 		0.925 0.040 1 42929242 missense variant C/T snv
CUI: C3149117
Disease: GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE
GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE 		0.700 1.000 4 2000 2016
dbSNP: rs869312673
rs869312673 		1.000 1 42930036 splice acceptor variant C/G;T snv
CUI: C3149117
Disease: GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE
GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE 		0.700 1.000 4 2011 2017
dbSNP: rs13306758
rs13306758 		0.807 0.360 1 42927148 missense variant G/A;T snv 2.8E-03
CUI: C3149117
Disease: GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE
GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE 		0.700 1.000 2 2012 2014
dbSNP: rs267607059
rs267607059 		0.925 0.080 1 42927118 missense variant G/A snv
CUI: C3149117
Disease: GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE
GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE 		0.700 1.000 2 2009 2010
dbSNP: rs1553156199
rs1553156199 		1.000 1 42931093 frameshift variant -/C delins
CUI: C3149117
Disease: GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE
GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE 		0.700 1.000 1 2005 2005
dbSNP: rs387907312
rs387907312 		0.882 0.200 1 42929918 missense variant G/A snv
CUI: C3149117
Disease: GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE
GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE 		0.700 1.000 1 2011 2011
dbSNP: rs1553156051
rs1553156051 		1.000 1 42929625 stop gained G/A snv
CUI: C3149117
Disease: GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE
GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs1557646893
rs1557646893 		1.000 1 42931205 splice acceptor variant -/CC delins
CUI: C3149117
Disease: GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE
GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs202060209
rs202060209 		0.925 0.040 1 42931047 missense variant G/A;T snv 2.4E-05
CUI: C3149117
Disease: GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE
GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs796053248
rs796053248 		0.807 0.360 1 42929885 missense variant G/A;T snv 4.0E-06
CUI: C3149117
Disease: GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE
GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs796053253
rs796053253 		0.925 0.040 1 42929211 missense variant G/A snv
CUI: C3149117
Disease: GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE
GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs80359816
rs80359816 		0.882 0.080 1 42930765 missense variant C/A;T snv
CUI: C3149117
Disease: GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE
GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs80359818
rs80359818 		0.776 0.360 1 42930766 missense variant G/A snv
CUI: C3149117
Disease: GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE
GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs80359826
rs80359826 		0.807 0.120 1 42929018 stop gained G/A;T snv 4.0E-06
CUI: C3149117
Disease: GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE
GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE 		0.700 0