rs80359835

Orientation

minus

Stabilized

minus

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

Make rs80359835(-;-)

Make rs80359835(-;A)

Reference

GRCh38 38.1/141

Chromosome

1

Position

42929735

Gene

SLC2A1

is a	snp
is	mentioned by
dbSNP	rs80359835
dbSNP (classic)	rs80359835
ClinGen	rs80359835
ebi	rs80359835
HLI	rs80359835
Exac	rs80359835
Gnomad	rs80359835
Varsome	rs80359835
LitVar	rs80359835
Map	rs80359835
PheGenI	rs80359835
Biobank	rs80359835
1000 genomes	rs80359835
hgdp	rs80359835
ensembl	rs80359835
geneview	rs80359835
scholar	rs80359835
google	rs80359835
pharmgkb	rs80359835
gwascentral	rs80359835
openSNP	rs80359835
23andMe	rs80359835
SNPshot	rs80359835
SNPdbe	rs80359835
MSV3d	rs80359835
GWAS Ctlg	rs80359835

Max Magnitude

0

ClinVar
Risk
Alt
Reference	Rs80359835(A;A)
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.43395406delT
CLNSRC
CLNACC

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