rs80359834

Orientation

minus

Stabilized

minus

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

Make rs80359834(-;G)

Make rs80359834(G;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

42929750

Gene

SLC2A1

is a	snp
is	mentioned by
dbSNP	rs80359834
dbSNP (classic)	rs80359834
ClinGen	rs80359834
ebi	rs80359834
HLI	rs80359834
Exac	rs80359834
Gnomad	rs80359834
Varsome	rs80359834
LitVar	rs80359834
Map	rs80359834
PheGenI	rs80359834
Biobank	rs80359834
1000 genomes	rs80359834
hgdp	rs80359834
ensembl	rs80359834
geneview	rs80359834
scholar	rs80359834
google	rs80359834
pharmgkb	rs80359834
gwascentral	rs80359834
openSNP	rs80359834
23andMe	rs80359834
SNPshot	rs80359834
SNPdbe	rs80359834
MSV3d	rs80359834
GWAS Ctlg	rs80359834

Max Magnitude

0

ClinVar
Risk	rs80359834(G;G)
Alt	rs80359834(G;G)
Reference	Rs80359834(;)
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.43395421_43395422insC
CLNSRC
CLNACC

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