rs796053263

Orientation

minus

Stabilized

minus

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

Make rs796053263(C;T)

Make rs796053263(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

1

Position

42927685

Gene

SLC2A1

is a	snp
is	mentioned by
dbSNP	rs796053263
dbSNP (classic)	rs796053263
ClinGen	rs796053263
ebi	rs796053263
HLI	rs796053263
Exac	rs796053263
Gnomad	rs796053263
Varsome	rs796053263
LitVar	rs796053263
Map	rs796053263
PheGenI	rs796053263
Biobank	rs796053263
1000 genomes	rs796053263
hgdp	rs796053263
ensembl	rs796053263
geneview	rs796053263
scholar	rs796053263
google	rs796053263
pharmgkb	rs796053263
gwascentral	rs796053263
openSNP	rs796053263
23andMe	rs796053263
SNPshot	rs796053263
SNPdbe	rs796053263
MSV3d	rs796053263
GWAS Ctlg	rs796053263

Max Magnitude

0

ClinVar
Risk	rs796053263(T;T)
Alt	rs796053263(T;T)
Reference	Rs796053263(C;C)
Significance	Pathogenic
Disease	not provided GLUT1 deficiency syndrome 1
Variation	info
Gene	SLC2A1
CLNDBN	not provided GLUT1 deficiency syndrome 1, autosomal recessive
Reversed	1
HGVS	NC_000001.10:g.43393356G>A
CLNSRC
CLNACC	RCV000189378.1, RCV000463311.1,