rs267607060

Orientation

minus

Stabilized

minus

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

Make rs267607060(AT;AT)

Make rs267607060(AT;TC)

Reference

GRCh38 38.1/141

Chromosome

1

Position

42930858

Gene

SLC2A1

is a	snp
is	mentioned by
dbSNP	rs267607060
dbSNP (classic)	rs267607060
ClinGen	rs267607060
ebi	rs267607060
HLI	rs267607060
Exac	rs267607060
Gnomad	rs267607060
Varsome	rs267607060
LitVar	rs267607060
Map	rs267607060
PheGenI	rs267607060
Biobank	rs267607060
1000 genomes	rs267607060
hgdp	rs267607060
ensembl	rs267607060
geneview	rs267607060
scholar	rs267607060
google	rs267607060
pharmgkb	rs267607060
gwascentral	rs267607060
openSNP	rs267607060
23andMe	rs267607060
SNPshot	rs267607060
SNPdbe	rs267607060
MSV3d	rs267607060
GWAS Ctlg	rs267607060

Max Magnitude

0

ClinVar
Risk	rs267607060(AT;AT)
Alt	rs267607060(AT;AT)
Reference	Rs267607060(TC;TC)
Significance	Pathogenic
Disease	GLUT1 deficiency syndrome 2
Variation	info
Gene	SLC2A1
CLNDBN	GLUT1 deficiency syndrome 2
Reversed	1
HGVS	NC_000001.10:g.43396529_43396530delGAinsAT
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000017496.28,