rs796053253

Orientation

minus

Stabilized

minus

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

Make rs796053253(C;T)

Make rs796053253(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

1

Position

42929211

Gene

SLC2A1

is a	snp
is	mentioned by
dbSNP	rs796053253
dbSNP (classic)	rs796053253
ClinGen	rs796053253
ebi	rs796053253
HLI	rs796053253
Exac	rs796053253
Gnomad	rs796053253
Varsome	rs796053253
LitVar	rs796053253
Map	rs796053253
PheGenI	rs796053253
Biobank	rs796053253
1000 genomes	rs796053253
hgdp	rs796053253
ensembl	rs796053253
geneview	rs796053253
scholar	rs796053253
google	rs796053253
pharmgkb	rs796053253
gwascentral	rs796053253
openSNP	rs796053253
23andMe	rs796053253
SNPshot	rs796053253
SNPdbe	rs796053253
MSV3d	rs796053253
GWAS Ctlg	rs796053253

Max Magnitude

0

ClinVar
Risk	rs796053253(T;T)
Alt	rs796053253(T;T)
Reference	Rs796053253(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.43394882G>A
CLNSRC	UniProtKB (protein)
CLNACC	RCV000189366.3, RCV000458906.1,