rs80359827

Orientation

minus

Stabilized

minus

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

Make rs80359827(C;T)

Make rs80359827(T;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

42927694

Gene

SLC2A1

is a	snp
is	mentioned by
dbSNP	rs80359827
dbSNP (classic)	rs80359827
ClinGen	rs80359827
ebi	rs80359827
HLI	rs80359827
Exac	rs80359827
Gnomad	rs80359827
Varsome	rs80359827
LitVar	rs80359827
Map	rs80359827
PheGenI	rs80359827
Biobank	rs80359827
1000 genomes	rs80359827
hgdp	rs80359827
ensembl	rs80359827
geneview	rs80359827
scholar	rs80359827
google	rs80359827
pharmgkb	rs80359827
gwascentral	rs80359827
openSNP	rs80359827
23andMe	rs80359827
SNPshot	rs80359827
SNPdbe	rs80359827
MSV3d	rs80359827
GWAS Ctlg	rs80359827

Max Magnitude

0

ClinVar
Risk	rs80359827(T;T)
Alt	rs80359827(T;T)
Reference	Rs80359827(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.43393365G>A
CLNSRC
CLNACC

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