rs80359813

Orientation

minus

Stabilized

minus

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

Make rs80359813(C;T)

Make rs80359813(T;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

42931124

Gene

SLC2A1

is a	snp
is	mentioned by
dbSNP	rs80359813
dbSNP (classic)	rs80359813
ClinGen	rs80359813
ebi	rs80359813
HLI	rs80359813
Exac	rs80359813
Gnomad	rs80359813
Varsome	rs80359813
LitVar	rs80359813
Map	rs80359813
PheGenI	rs80359813
Biobank	rs80359813
1000 genomes	rs80359813
hgdp	rs80359813
ensembl	rs80359813
geneview	rs80359813
scholar	rs80359813
google	rs80359813
pharmgkb	rs80359813
gwascentral	rs80359813
openSNP	rs80359813
23andMe	rs80359813
SNPshot	rs80359813
SNPdbe	rs80359813
MSV3d	rs80359813
GWAS Ctlg	rs80359813

Max Magnitude

0

ClinVar
Risk	rs80359813(T;T)
Alt	rs80359813(T;T)
Reference	Rs80359813(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.43396795G>A
CLNSRC
CLNACC

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