rs202060209

Orientation

plus

Stabilized

plus

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

Make rs202060209(G;T)

Make rs202060209(T;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

42931047

Gene

SLC2A1

is a	snp
is	mentioned by
dbSNP	rs202060209
dbSNP (classic)	rs202060209
ClinGen	rs202060209
ebi	rs202060209
HLI	rs202060209
Exac	rs202060209
Gnomad	rs202060209
Varsome	rs202060209
LitVar	rs202060209
Map	rs202060209
PheGenI	rs202060209
Biobank	rs202060209
1000 genomes	rs202060209
hgdp	rs202060209
ensembl	rs202060209
geneview	rs202060209
scholar	rs202060209
google	rs202060209
pharmgkb	rs202060209
gwascentral	rs202060209
openSNP	rs202060209
23andMe	rs202060209
SNPshot	rs202060209
SNPdbe	rs202060209
MSV3d	rs202060209
GWAS Ctlg	rs202060209

GMAF

0.0004591

Max Magnitude

0

ClinVar
Risk	rs202060209(A;A) rs202060209(T;T)
Alt	rs202060209(A;A) rs202060209(T;T)
Reference	Rs202060209(G;G)
Significance	Pathogenic
Disease	GLUT1 deficiency syndrome 2 not provided Glucose transporter type 1 deficiency syndrome Dystonia
Variation	info
Gene	SLC2A1
CLNDBN	GLUT1 deficiency syndrome 2 not provided Glucose transporter type 1 deficiency syndrome Dystonia
Reversed	0
HGVS	NC_000001.10:g.43396718G>A; NC_000001.10:g.43396718G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000017499.28, RCV000426262.1, RCV000315546.1, RCV000400449.1,