rs80359819

Orientation

minus

Stabilized

minus

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

Make rs80359819(A;A)

Make rs80359819(A;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

42930754

Gene

SLC2A1

is a	snp
is	mentioned by
dbSNP	rs80359819
dbSNP (classic)	rs80359819
ClinGen	rs80359819
ebi	rs80359819
HLI	rs80359819
Exac	rs80359819
Gnomad	rs80359819
Varsome	rs80359819
LitVar	rs80359819
Map	rs80359819
PheGenI	rs80359819
Biobank	rs80359819
1000 genomes	rs80359819
hgdp	rs80359819
ensembl	rs80359819
geneview	rs80359819
scholar	rs80359819
google	rs80359819
pharmgkb	rs80359819
gwascentral	rs80359819
openSNP	rs80359819
23andMe	rs80359819
SNPshot	rs80359819
SNPdbe	rs80359819
MSV3d	rs80359819
GWAS Ctlg	rs80359819

Max Magnitude

0

ClinVar
Risk	rs80359819(A;A) rs80359819(C;C)
Alt	rs80359819(A;A) rs80359819(C;C)
Reference	Rs80359819(G;G)
Significance	Pathogenic
Disease	not provided
Variation	info
Gene	SLC2A1
CLNDBN	not provided
Reversed	1
HGVS	NC_000001.10:g.43396425C>G
CLNSRC
CLNACC	RCV000189352.1,

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