rs80359831

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(-;-)	0	common in clinvar

Make rs80359831(-;TCCTGCCCACCACGCTCACCACC)

Make rs80359831(TCCTGCCCACCACGCTCACCACC;TCCTGCCCACCACGCTCACCACC)

Reference

GRCh38 38.1/141

Chromosome

1

Position

42931131

Gene

SLC2A1

is a	snp
is	mentioned by
dbSNP	rs80359831
dbSNP (classic)	rs80359831
ClinGen	rs80359831
ebi	rs80359831
HLI	rs80359831
Exac	rs80359831
Gnomad	rs80359831
Varsome	rs80359831
LitVar	rs80359831
Map	rs80359831
PheGenI	rs80359831
Biobank	rs80359831
1000 genomes	rs80359831
hgdp	rs80359831
ensembl	rs80359831
geneview	rs80359831
scholar	rs80359831
google	rs80359831
pharmgkb	rs80359831
gwascentral	rs80359831
openSNP	rs80359831
23andMe	rs80359831
SNPshot	rs80359831
SNPdbe	rs80359831
MSV3d	rs80359831
GWAS Ctlg	rs80359831

Max Magnitude

0

ClinVar
Risk	rs80359831(TCCTGCCCACCACGCTCACCACC;TCCTGCCCACCACGCTCACCACC)
Alt	rs80359831(TCCTGCCCACCACGCTCACCACC;TCCTGCCCACCACGCTCACCACC)
Reference	Rs80359831(;)
Significance	Pathogenic
Disease	Glucose transporter type 1 deficiency syndrome
Variation	info
Gene	SLC2A1
CLNDBN	Glucose transporter type 1 deficiency syndrome
Reversed	1
HGVS	NC_000001.10:g.43396802_43396803insGGTGGTGAGCGTGGTGGGCAGGA
CLNSRC
CLNACC

[PMID 15622525] Glut-1 deficiency syndrome: clinical, genetic, and therapeutic aspects.