rs80359814

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(G;G)	0	common in complete genomics

Make rs80359814(A;A)

Make rs80359814(A;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

42931049

Gene

SLC2A1

is a	snp
is	mentioned by
dbSNP	rs80359814
dbSNP (classic)	rs80359814
ClinGen	rs80359814
ebi	rs80359814
HLI	rs80359814
Exac	rs80359814
Gnomad	rs80359814
Varsome	rs80359814
LitVar	rs80359814
Map	rs80359814
PheGenI	rs80359814
Biobank	rs80359814
1000 genomes	rs80359814
hgdp	rs80359814
ensembl	rs80359814
geneview	rs80359814
scholar	rs80359814
google	rs80359814
pharmgkb	rs80359814
gwascentral	rs80359814
openSNP	rs80359814
23andMe	rs80359814
SNPshot	rs80359814
SNPdbe	rs80359814
MSV3d	rs80359814
GWAS Ctlg	rs80359814

Max Magnitude

0

OMIM	138140
Desc
Variant	0006
Related	also

ClinVar
Risk	rs80359814(A;A)
Alt	rs80359814(A;A)
Reference	Rs80359814(G;G)
Significance	Pathogenic
Disease	GLUT1 deficiency syndrome 1
Variation	info
Gene	SLC2A1
CLNDBN	GLUT1 deficiency syndrome 1
Reversed	1
HGVS	NC_000001.10:g.43396720C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000017490.29,

[PMID 11136715] Autosomal dominant transmission of GLUT1 deficiency.