rs80359826

Orientation

minus

Stabilized

minus

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

Make rs80359826(C;T)

Make rs80359826(T;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

42929018

Gene

SLC2A1

is a	snp
is	mentioned by
dbSNP	rs80359826
dbSNP (classic)	rs80359826
ClinGen	rs80359826
ebi	rs80359826
HLI	rs80359826
Exac	rs80359826
Gnomad	rs80359826
Varsome	rs80359826
LitVar	rs80359826
Map	rs80359826
PheGenI	rs80359826
Biobank	rs80359826
1000 genomes	rs80359826
hgdp	rs80359826
ensembl	rs80359826
geneview	rs80359826
scholar	rs80359826
google	rs80359826
pharmgkb	rs80359826
gwascentral	rs80359826
openSNP	rs80359826
23andMe	rs80359826
SNPshot	rs80359826
SNPdbe	rs80359826
MSV3d	rs80359826
GWAS Ctlg	rs80359826

Max Magnitude

0

ClinVar
Risk	rs80359826(A;A) rs80359826(T;T)
Alt	rs80359826(A;A) rs80359826(T;T)
Reference	Rs80359826(C;C)
Significance	Pathogenic
Disease	not provided Microcephaly Seizure Disorders intellectual deficiency GLUT1 deficiency syndrome 1
Variation	info
Gene	SLC2A1
CLNDBN	not provided Microcephaly Seizure Disorders intellectual deficiency GLUT1 deficiency syndrome 1, autosomal recessive
Reversed	1
HGVS	NC_000001.10:g.43394689G>A
CLNSRC
CLNACC	RCV000189360.2, RCV000415466.1, RCV000461498.1,

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