rs80359818

Orientation

minus

Stabilized

minus

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

Make rs80359818(C;T)

Make rs80359818(T;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

42930766

Gene

SLC2A1

is a	snp
is	mentioned by
dbSNP	rs80359818
dbSNP (classic)	rs80359818
ClinGen	rs80359818
ebi	rs80359818
HLI	rs80359818
Exac	rs80359818
Gnomad	rs80359818
Varsome	rs80359818
LitVar	rs80359818
Map	rs80359818
PheGenI	rs80359818
Biobank	rs80359818
1000 genomes	rs80359818
hgdp	rs80359818
ensembl	rs80359818
geneview	rs80359818
scholar	rs80359818
google	rs80359818
pharmgkb	rs80359818
gwascentral	rs80359818
openSNP	rs80359818
23andMe	rs80359818
SNPshot	rs80359818
SNPdbe	rs80359818
MSV3d	rs80359818
GWAS Ctlg	rs80359818

Max Magnitude

0

ClinVar
Risk	rs80359818(T;T)
Alt	rs80359818(T;T)
Reference	Rs80359818(C;C)
Significance	Pathogenic
Disease	GLUT1 deficiency syndrome 1 GLUT1 deficiency syndrome 2 Dystonia 9 not provided Epilepsy
Variation	info
Gene	SLC2A1
CLNDBN	GLUT1 deficiency syndrome 1 GLUT1 deficiency syndrome 2 Dystonia 9 not provided Epilepsy, idiopathic generalized, susceptibility to, 12
Reversed	1
HGVS	NC_000001.10:g.43396437G>A
CLNSRC	HGMD OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000017498.24, RCV000030838.28, RCV000030839.28, RCV000081431.5, RCV000178276.1,

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