rs794729221

Orientation

minus

Stabilized

minus

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

Make rs794729221(C;T)

Make rs794729221(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

1

Position

42929736

Gene

SLC2A1

is a	snp
is	mentioned by
dbSNP	rs794729221
dbSNP (classic)	rs794729221
ClinGen	rs794729221
ebi	rs794729221
HLI	rs794729221
Exac	rs794729221
Gnomad	rs794729221
Varsome	rs794729221
LitVar	rs794729221
Map	rs794729221
PheGenI	rs794729221
Biobank	rs794729221
1000 genomes	rs794729221
hgdp	rs794729221
ensembl	rs794729221
geneview	rs794729221
scholar	rs794729221
google	rs794729221
pharmgkb	rs794729221
gwascentral	rs794729221
openSNP	rs794729221
23andMe	rs794729221
SNPshot	rs794729221
SNPdbe	rs794729221
MSV3d	rs794729221
GWAS Ctlg	rs794729221

Max Magnitude

0

ClinVar
Risk	rs794729221(T;T)
Alt	rs794729221(T;T)
Reference	Rs794729221(C;C)
Significance	Pathogenic
Disease	GLUT1 deficiency syndrome 1 Intellectual disability
Variation	info
Gene	SLC2A1
CLNDBN	GLUT1 deficiency syndrome 1 Intellectual disability
Reversed	1
HGVS	NC_000001.10:g.43395407G>A
CLNSRC
CLNACC	RCV000184042.1, RCV000224228.1,