rs80359833

Orientation

minus

Stabilized

minus

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

Make rs80359833(-;C)

Make rs80359833(C;C)

Reference

GRCh38 38.1/141

Chromosome

1

Position

42929989

Gene

SLC2A1

is a	snp
is	mentioned by
dbSNP	rs80359833
dbSNP (classic)	rs80359833
ClinGen	rs80359833
ebi	rs80359833
HLI	rs80359833
Exac	rs80359833
Gnomad	rs80359833
Varsome	rs80359833
LitVar	rs80359833
Map	rs80359833
PheGenI	rs80359833
Biobank	rs80359833
1000 genomes	rs80359833
hgdp	rs80359833
ensembl	rs80359833
geneview	rs80359833
scholar	rs80359833
google	rs80359833
pharmgkb	rs80359833
gwascentral	rs80359833
openSNP	rs80359833
23andMe	rs80359833
SNPshot	rs80359833
SNPdbe	rs80359833
MSV3d	rs80359833
GWAS Ctlg	rs80359833

Max Magnitude

0

ClinVar
Risk	rs80359833(C;C)
Alt	rs80359833(C;C)
Reference	Rs80359833(;)
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.43395660_43395661insG
CLNSRC
CLNACC

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