rs80359842

Orientation

minus

Stabilized

minus

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

Make rs80359842(-;-)

Make rs80359842(-;TGGTACGGGCAT)

Reference

GRCh38 38.1/141

Chromosome

1

Position

42929863

Gene

SLC2A1

is a	snp
is	mentioned by
dbSNP	rs80359842
dbSNP (classic)	rs80359842
ClinGen	rs80359842
ebi	rs80359842
HLI	rs80359842
Exac	rs80359842
Gnomad	rs80359842
Varsome	rs80359842
LitVar	rs80359842
Map	rs80359842
PheGenI	rs80359842
Biobank	rs80359842
1000 genomes	rs80359842
hgdp	rs80359842
ensembl	rs80359842
geneview	rs80359842
scholar	rs80359842
google	rs80359842
pharmgkb	rs80359842
gwascentral	rs80359842
openSNP	rs80359842
23andMe	rs80359842
SNPshot	rs80359842
SNPdbe	rs80359842
MSV3d	rs80359842
GWAS Ctlg	rs80359842

Max Magnitude

0

ClinVar
Risk
Alt
Reference	Rs80359842(TGGTACGGGCAT;TGGTACGGGCAT)
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.43395534_43395545delATGCCCGTACCAinsTC
CLNSRC
CLNACC

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