rs587784390

Orientation

minus

Stabilized

minus

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

Make rs587784390(A;G)

Make rs587784390(G;G)

Reference

GRCh38.p2 38.2/144

Chromosome

1

Position

42943240

Gene

SLC2A1

is a	snp
is	mentioned by
dbSNP	rs587784390
dbSNP (classic)	rs587784390
ClinGen	rs587784390
ebi	rs587784390
HLI	rs587784390
Exac	rs587784390
Gnomad	rs587784390
Varsome	rs587784390
LitVar	rs587784390
Map	rs587784390
PheGenI	rs587784390
Biobank	rs587784390
1000 genomes	rs587784390
hgdp	rs587784390
ensembl	rs587784390
geneview	rs587784390
scholar	rs587784390
google	rs587784390
pharmgkb	rs587784390
gwascentral	rs587784390
openSNP	rs587784390
23andMe	rs587784390
SNPshot	rs587784390
SNPdbe	rs587784390
MSV3d	rs587784390
GWAS Ctlg	rs587784390

Max Magnitude

0

ClinVar
Risk	rs587784390(G;G)
Alt	rs587784390(G;G)
Reference	Rs587784390(A;A)
Significance	Probable-Pathogenic
Disease	GLUT1 deficiency syndrome 1
Variation	info
Gene	SLC2A1
CLNDBN	GLUT1 deficiency syndrome 1
Reversed	1
HGVS	NC_000001.10:g.43408911T>C
CLNSRC
CLNACC	RCV000147518.1,