rs80359839

Orientation

minus

Stabilized

minus

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

Make rs80359839(-;-)

Make rs80359839(-;C)

Reference

GRCh38 38.1/141

Chromosome

1

Position

42927685

Gene

SLC2A1

is a	snp
is	mentioned by
dbSNP	rs80359839
dbSNP (classic)	rs80359839
ClinGen	rs80359839
ebi	rs80359839
HLI	rs80359839
Exac	rs80359839
Gnomad	rs80359839
Varsome	rs80359839
LitVar	rs80359839
Map	rs80359839
PheGenI	rs80359839
Biobank	rs80359839
1000 genomes	rs80359839
hgdp	rs80359839
ensembl	rs80359839
geneview	rs80359839
scholar	rs80359839
google	rs80359839
pharmgkb	rs80359839
gwascentral	rs80359839
openSNP	rs80359839
23andMe	rs80359839
SNPshot	rs80359839
SNPdbe	rs80359839
MSV3d	rs80359839
GWAS Ctlg	rs80359839

Max Magnitude

0

ClinVar
Risk
Alt
Reference	Rs80359839(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.43393356delG
CLNSRC
CLNACC

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