rs587784397

Orientation

minus

Stabilized

minus

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

Make rs587784397(C;T)

Make rs587784397(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

1

Position

42929613

Gene

SLC2A1

is a	snp
is	mentioned by
dbSNP	rs587784397
dbSNP (classic)	rs587784397
ClinGen	rs587784397
ebi	rs587784397
HLI	rs587784397
Exac	rs587784397
Gnomad	rs587784397
Varsome	rs587784397
LitVar	rs587784397
Map	rs587784397
PheGenI	rs587784397
Biobank	rs587784397
1000 genomes	rs587784397
hgdp	rs587784397
ensembl	rs587784397
geneview	rs587784397
scholar	rs587784397
google	rs587784397
pharmgkb	rs587784397
gwascentral	rs587784397
openSNP	rs587784397
23andMe	rs587784397
SNPshot	rs587784397
SNPdbe	rs587784397
MSV3d	rs587784397
GWAS Ctlg	rs587784397

Max Magnitude

0

ClinVar
Risk	rs587784397(T;T)
Alt	rs587784397(T;T)
Reference	Rs587784397(C;C)
Significance	Pathogenic
Disease	GLUT1 deficiency syndrome 1
Variation	info
Gene	SLC2A1
CLNDBN	GLUT1 deficiency syndrome 1
Reversed	1
HGVS	NC_000001.10:g.43395284G>A
CLNSRC	Courtagen Life Sciences
CLNACC	RCV000147535.2,