rs80359824

Orientation

minus

Stabilized

minus

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

Make rs80359824(C;T)

Make rs80359824(T;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

42929253

Gene

SLC2A1

is a	snp
is	mentioned by
dbSNP	rs80359824
dbSNP (classic)	rs80359824
ClinGen	rs80359824
ebi	rs80359824
HLI	rs80359824
Exac	rs80359824
Gnomad	rs80359824
Varsome	rs80359824
LitVar	rs80359824
Map	rs80359824
PheGenI	rs80359824
Biobank	rs80359824
1000 genomes	rs80359824
hgdp	rs80359824
ensembl	rs80359824
geneview	rs80359824
scholar	rs80359824
google	rs80359824
pharmgkb	rs80359824
gwascentral	rs80359824
openSNP	rs80359824
23andMe	rs80359824
SNPshot	rs80359824
SNPdbe	rs80359824
MSV3d	rs80359824
GWAS Ctlg	rs80359824

Max Magnitude

0

ClinVar
Risk	rs80359824(T;T)
Alt	rs80359824(T;T)
Reference	Rs80359824(C;C)
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.43394924G>A
CLNSRC
CLNACC

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