rs80359840

Orientation

minus

Stabilized

minus

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

Make rs80359840(-;ATCG)

Make rs80359840(ATCG;ATCG)

Reference

GRCh38 38.1/141

Chromosome

1

Position

42927136

Gene

SLC2A1

is a	snp
is	mentioned by
dbSNP	rs80359840
dbSNP (classic)	rs80359840
ClinGen	rs80359840
ebi	rs80359840
HLI	rs80359840
Exac	rs80359840
Gnomad	rs80359840
Varsome	rs80359840
LitVar	rs80359840
Map	rs80359840
PheGenI	rs80359840
Biobank	rs80359840
1000 genomes	rs80359840
hgdp	rs80359840
ensembl	rs80359840
geneview	rs80359840
scholar	rs80359840
google	rs80359840
pharmgkb	rs80359840
gwascentral	rs80359840
openSNP	rs80359840
23andMe	rs80359840
SNPshot	rs80359840
SNPdbe	rs80359840
MSV3d	rs80359840
GWAS Ctlg	rs80359840

Max Magnitude

0

ClinVar
Risk	rs80359840(ATCG;ATCG)
Alt	rs80359840(ATCG;ATCG)
Reference	Rs80359840(;)
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.43392807_43392808insCGAT
CLNSRC
CLNACC

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