rs587784393

Orientation

minus

Stabilized

minus

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

Make rs587784393(-;-)

Make rs587784393(-;AAGCTGACGG)

Reference

GRCh38.p2 38.2/144

Chromosome

1

Position

42943312

Gene

SLC2A1

is a	snp
is	mentioned by
dbSNP	rs587784393
dbSNP (classic)	rs587784393
ClinGen	rs587784393
ebi	rs587784393
HLI	rs587784393
Exac	rs587784393
Gnomad	rs587784393
Varsome	rs587784393
LitVar	rs587784393
Map	rs587784393
PheGenI	rs587784393
Biobank	rs587784393
1000 genomes	rs587784393
hgdp	rs587784393
ensembl	rs587784393
geneview	rs587784393
scholar	rs587784393
google	rs587784393
pharmgkb	rs587784393
gwascentral	rs587784393
openSNP	rs587784393
23andMe	rs587784393
SNPshot	rs587784393
SNPdbe	rs587784393
MSV3d	rs587784393
GWAS Ctlg	rs587784393

Max Magnitude

0

ClinVar
Risk	rs587784393(-;-)
Alt	rs587784393(-;-)
Reference	Rs587784393(AAGCTGACGG;AAGCTGACGG)
Significance	Pathogenic
Disease	GLUT1 deficiency syndrome 1
Variation	info
Gene	SLC2A1
CLNDBN	GLUT1 deficiency syndrome 1
Reversed	1
HGVS	NC_000001.10:g.43408983_43408992delCCGTCAGCTT
CLNSRC
CLNACC	RCV000147524.1,