rs80359825

Orientation

minus

Stabilized

minus

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

Make rs80359825(C;T)

Make rs80359825(T;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

42929009

Gene

SLC2A1

is a	snp
is	mentioned by
dbSNP	rs80359825
dbSNP (classic)	rs80359825
ClinGen	rs80359825
ebi	rs80359825
HLI	rs80359825
Exac	rs80359825
Gnomad	rs80359825
Varsome	rs80359825
LitVar	rs80359825
Map	rs80359825
PheGenI	rs80359825
Biobank	rs80359825
1000 genomes	rs80359825
hgdp	rs80359825
ensembl	rs80359825
geneview	rs80359825
scholar	rs80359825
google	rs80359825
pharmgkb	rs80359825
gwascentral	rs80359825
openSNP	rs80359825
23andMe	rs80359825
SNPshot	rs80359825
SNPdbe	rs80359825
MSV3d	rs80359825
GWAS Ctlg	rs80359825

Max Magnitude

0

ClinVar
Risk	rs80359825(T;T)
Alt	rs80359825(T;T)
Reference	Rs80359825(C;C)
Significance	Pathogenic
Disease	Epilepsy GLUT1 deficiency syndrome 1
Variation	info
Gene	SLC2A1
CLNDBN	Epilepsy, idiopathic generalized, susceptibility to, 12 GLUT1 deficiency syndrome 1
Reversed	1
HGVS	NC_000001.10:g.43394680G>A
CLNSRC	UniProtKB (protein)
CLNACC	RCV000180299.1, RCV000180300.1,

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