rs121909740

Orientation

minus

Stabilized

minus

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

Make rs121909740(A;A)

Make rs121909740(A;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

42929637

Gene

SLC2A1

is a	snp
is	mentioned by
dbSNP	rs121909740
dbSNP (classic)	rs121909740
ClinGen	rs121909740
ebi	rs121909740
HLI	rs121909740
Exac	rs121909740
Gnomad	rs121909740
Varsome	rs121909740
LitVar	rs121909740
Map	rs121909740
PheGenI	rs121909740
Biobank	rs121909740
1000 genomes	rs121909740
hgdp	rs121909740
ensembl	rs121909740
geneview	rs121909740
scholar	rs121909740
google	rs121909740
pharmgkb	rs121909740
gwascentral	rs121909740
openSNP	rs121909740
23andMe	rs121909740
SNPshot	rs121909740
SNPdbe	rs121909740
MSV3d	rs121909740
GWAS Ctlg	rs121909740

Max Magnitude

0

OMIM	138140
Desc
Variant	0010
Related	also

ClinVar
Risk	rs121909740(A;A)
Alt	rs121909740(A;A)
Reference	Rs121909740(G;G)
Significance	Pathogenic
Disease	GLUT1 deficiency syndrome 2 GLUT1 deficiency syndrome 1 not provided
Variation	info
Gene	SLC2A1
CLNDBN	GLUT1 deficiency syndrome 2 GLUT1 deficiency syndrome 1 not provided
Reversed	1
HGVS	NC_000001.10:g.43395308C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000017494.24, RCV000147534.1, RCV000189361.2,