rs80359838

Orientation

minus

Stabilized

minus

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

Make rs80359838(-;-)

Make rs80359838(-;TG)

Reference

GRCh38 38.1/141

Chromosome

1

Position

42929025

Gene

SLC2A1

is a	snp
is	mentioned by
dbSNP	rs80359838
dbSNP (classic)	rs80359838
ClinGen	rs80359838
ebi	rs80359838
HLI	rs80359838
Exac	rs80359838
Gnomad	rs80359838
Varsome	rs80359838
LitVar	rs80359838
Map	rs80359838
PheGenI	rs80359838
Biobank	rs80359838
1000 genomes	rs80359838
hgdp	rs80359838
ensembl	rs80359838
geneview	rs80359838
scholar	rs80359838
google	rs80359838
pharmgkb	rs80359838
gwascentral	rs80359838
openSNP	rs80359838
23andMe	rs80359838
SNPshot	rs80359838
SNPdbe	rs80359838
MSV3d	rs80359838
GWAS Ctlg	rs80359838

Max Magnitude

0

ClinVar
Risk	rs80359838(-;-)
Alt	rs80359838(-;-)
Reference	Rs80359838(TG;TG)
Significance	Pathogenic
Disease	not provided Epilepsy GLUT1 deficiency syndrome 1
Variation	info
Gene	SLC2A1
CLNDBN	not provided Epilepsy, idiopathic generalized, susceptibility to, 12 GLUT1 deficiency syndrome 1
Reversed	1
HGVS	NC_000001.10:g.43394696_43394697delCA
CLNSRC	HGMD
CLNACC	RCV000081441.3, RCV000180297.1, RCV000180298.1,

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