rs80359830

Orientation

minus

Stabilized

minus

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

Make rs80359830(CA;T)

Make rs80359830(T;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

42943252

Gene

SLC2A1

is a	snp
is	mentioned by
dbSNP	rs80359830
dbSNP (classic)	rs80359830
ClinGen	rs80359830
ebi	rs80359830
HLI	rs80359830
Exac	rs80359830
Gnomad	rs80359830
Varsome	rs80359830
LitVar	rs80359830
Map	rs80359830
PheGenI	rs80359830
Biobank	rs80359830
1000 genomes	rs80359830
hgdp	rs80359830
ensembl	rs80359830
geneview	rs80359830
scholar	rs80359830
google	rs80359830
pharmgkb	rs80359830
gwascentral	rs80359830
openSNP	rs80359830
23andMe	rs80359830
SNPshot	rs80359830
SNPdbe	rs80359830
MSV3d	rs80359830
GWAS Ctlg	rs80359830

Max Magnitude

0

ClinVar
Risk	rs80359830(T;T)
Alt	rs80359830(T;T)
Reference	Rs80359830(CA;CA)
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.43408923_43408924delTGinsA
CLNSRC
CLNACC

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