rs267607061

Orientation

minus

Stabilized

minus

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

Make rs267607061(C;T)

Make rs267607061(T;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

42930865

Gene

SLC2A1

is a	snp
is	mentioned by
dbSNP	rs267607061
dbSNP (classic)	rs267607061
ClinGen	rs267607061
ebi	rs267607061
HLI	rs267607061
Exac	rs267607061
Gnomad	rs267607061
Varsome	rs267607061
LitVar	rs267607061
Map	rs267607061
PheGenI	rs267607061
Biobank	rs267607061
1000 genomes	rs267607061
hgdp	rs267607061
ensembl	rs267607061
geneview	rs267607061
scholar	rs267607061
google	rs267607061
pharmgkb	rs267607061
gwascentral	rs267607061
openSNP	rs267607061
23andMe	rs267607061
SNPshot	rs267607061
SNPdbe	rs267607061
MSV3d	rs267607061
GWAS Ctlg	rs267607061

Max Magnitude

0

ClinVar
Risk	rs267607061(T;T)
Alt	rs267607061(T;T)
Reference	Rs267607061(C;C)
Significance	Pathogenic
Disease	GLUT1 deficiency syndrome 2 not provided
Variation	info
Gene	SLC2A1
CLNDBN	GLUT1 deficiency syndrome 2 not provided
Reversed	1
HGVS	NC_000001.10:g.43396536G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000030922.28, RCV000442654.1,