rs121909739

Orientation

minus

Stabilized

minus

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

Make rs121909739(A;A)

Make rs121909739(A;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

42929242

Gene

SLC2A1

is a	snp
is	mentioned by
dbSNP	rs121909739
dbSNP (classic)	rs121909739
ClinGen	rs121909739
ebi	rs121909739
HLI	rs121909739
Exac	rs121909739
Gnomad	rs121909739
Varsome	rs121909739
LitVar	rs121909739
Map	rs121909739
PheGenI	rs121909739
Biobank	rs121909739
1000 genomes	rs121909739
hgdp	rs121909739
ensembl	rs121909739
geneview	rs121909739
scholar	rs121909739
google	rs121909739
pharmgkb	rs121909739
gwascentral	rs121909739
openSNP	rs121909739
23andMe	rs121909739
SNPshot	rs121909739
SNPdbe	rs121909739
MSV3d	rs121909739
GWAS Ctlg	rs121909739

Max Magnitude

0

OMIM	138140
Desc
Variant	0009
Related	also

ClinVar
Risk	rs121909739(A;A)
Alt	rs121909739(A;A)
Reference	Rs121909739(G;G)
Significance	Pathogenic
Disease	GLUT1 deficiency syndrome 2 not provided GLUT1 deficiency syndrome 1 Epilepsy GLUT1 deficiency syndrome 1
Variation	info
Gene	SLC2A1
CLNDBN	GLUT1 deficiency syndrome 2 not provided GLUT1 deficiency syndrome 1 Epilepsy, idiopathic generalized, susceptibility to, 12 GLUT1 deficiency syndrome 1, autosomal recessive
Reversed	1
HGVS	NC_000001.10:g.43394913C>T
CLNSRC	HGMD OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000017493.28, RCV000153967.3, RCV000179919.1, RCV000179920.1, RCV000473987.1,