rs80359815

Orientation

minus

Stabilized

minus

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

Make rs80359815(A;A)

Make rs80359815(A;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

42930864

Gene

SLC2A1

is a	snp
is	mentioned by
dbSNP	rs80359815
dbSNP (classic)	rs80359815
ClinGen	rs80359815
ebi	rs80359815
HLI	rs80359815
Exac	rs80359815
Gnomad	rs80359815
Varsome	rs80359815
LitVar	rs80359815
Map	rs80359815
PheGenI	rs80359815
Biobank	rs80359815
1000 genomes	rs80359815
hgdp	rs80359815
ensembl	rs80359815
geneview	rs80359815
scholar	rs80359815
google	rs80359815
pharmgkb	rs80359815
gwascentral	rs80359815
openSNP	rs80359815
23andMe	rs80359815
SNPshot	rs80359815
SNPdbe	rs80359815
MSV3d	rs80359815
GWAS Ctlg	rs80359815

Max Magnitude

0

ClinVar
Risk	rs80359815(A;A)
Alt	rs80359815(A;A)
Reference	Rs80359815(G;G)
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.43396535C>T
CLNSRC
CLNACC

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