rs80359843

Orientation

minus

Stabilized

minus

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

Make rs80359843(G;T)

Make rs80359843(T;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

42929209

Gene

SLC2A1

is a	snp
is	mentioned by
dbSNP	rs80359843
dbSNP (classic)	rs80359843
ClinGen	rs80359843
ebi	rs80359843
HLI	rs80359843
Exac	rs80359843
Gnomad	rs80359843
Varsome	rs80359843
LitVar	rs80359843
Map	rs80359843
PheGenI	rs80359843
Biobank	rs80359843
1000 genomes	rs80359843
hgdp	rs80359843
ensembl	rs80359843
geneview	rs80359843
scholar	rs80359843
google	rs80359843
pharmgkb	rs80359843
gwascentral	rs80359843
openSNP	rs80359843
23andMe	rs80359843
SNPshot	rs80359843
SNPdbe	rs80359843
MSV3d	rs80359843
GWAS Ctlg	rs80359843

Max Magnitude

0

ClinVar
Risk	rs80359843(C;C) rs80359843(T;T)
Alt	rs80359843(C;C) rs80359843(T;T)
Reference	Rs80359843(G;G)
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.43394880C>A
CLNSRC
CLNACC

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