rs80359812

Orientation

minus

Stabilized

minus

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

Make rs80359812(A;T)

Make rs80359812(T;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

42943239

Gene

SLC2A1

is a	snp
is	mentioned by
dbSNP	rs80359812
dbSNP (classic)	rs80359812
ClinGen	rs80359812
ebi	rs80359812
HLI	rs80359812
Exac	rs80359812
Gnomad	rs80359812
Varsome	rs80359812
LitVar	rs80359812
Map	rs80359812
PheGenI	rs80359812
Biobank	rs80359812
1000 genomes	rs80359812
hgdp	rs80359812
ensembl	rs80359812
geneview	rs80359812
scholar	rs80359812
google	rs80359812
pharmgkb	rs80359812
gwascentral	rs80359812
openSNP	rs80359812
23andMe	rs80359812
SNPshot	rs80359812
SNPdbe	rs80359812
MSV3d	rs80359812
GWAS Ctlg	rs80359812

Max Magnitude

0

ClinVar
Risk	rs80359812(T;T)
Alt	rs80359812(T;T)
Reference	Rs80359812(A;A)
Significance	Pathogenic
Disease	GLUT1 deficiency syndrome 2
Variation	info
Gene	SLC2A1
CLNDBN	GLUT1 deficiency syndrome 2
Reversed	1
HGVS	NC_000001.10:g.43408910T>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000030921.24,

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