rs80359836

Orientation

minus

Stabilized

minus

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

Make rs80359836(-;-)

Make rs80359836(-;C)

Reference

GRCh38 38.1/141

Chromosome

1

Position

42929670

Gene

SLC2A1

is a	snp
is	mentioned by
dbSNP	rs80359836
dbSNP (classic)	rs80359836
ClinGen	rs80359836
ebi	rs80359836
HLI	rs80359836
Exac	rs80359836
Gnomad	rs80359836
Varsome	rs80359836
LitVar	rs80359836
Map	rs80359836
PheGenI	rs80359836
Biobank	rs80359836
1000 genomes	rs80359836
hgdp	rs80359836
ensembl	rs80359836
geneview	rs80359836
scholar	rs80359836
google	rs80359836
pharmgkb	rs80359836
gwascentral	rs80359836
openSNP	rs80359836
23andMe	rs80359836
SNPshot	rs80359836
SNPdbe	rs80359836
MSV3d	rs80359836
GWAS Ctlg	rs80359836

Max Magnitude

0

ClinVar
Risk
Alt
Reference	Rs80359836(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.43395341delG
CLNSRC
CLNACC

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