rs1057518953

Orientation

minus

Stabilized

minus

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

Make rs1057518953(A;A)

Make rs1057518953(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

1

Position

42930742

Gene

SLC2A1

is a	snp
is	mentioned by
dbSNP	rs1057518953
dbSNP (classic)	rs1057518953
ClinGen	rs1057518953
ebi	rs1057518953
HLI	rs1057518953
Exac	rs1057518953
Gnomad	rs1057518953
Varsome	rs1057518953
LitVar	rs1057518953
Map	rs1057518953
PheGenI	rs1057518953
Biobank	rs1057518953
1000 genomes	rs1057518953
hgdp	rs1057518953
ensembl	rs1057518953
geneview	rs1057518953
scholar	rs1057518953
google	rs1057518953
pharmgkb	rs1057518953
gwascentral	rs1057518953
openSNP	rs1057518953
23andMe	rs1057518953
SNPshot	rs1057518953
SNPdbe	rs1057518953
MSV3d	rs1057518953
GWAS Ctlg	rs1057518953

Max Magnitude

0

ClinVar
Risk	rs1057518953(A;A)
Alt	rs1057518953(A;A)
Reference	Rs1057518953(G;G)
Significance	Probable-Pathogenic
Disease	Paroxysmal dystonia GLUT1 deficiency syndrome 1
Variation	info
Gene	SLC2A1
CLNDBN	Paroxysmal dystonia GLUT1 deficiency syndrome 1, autosomal recessive
Reversed	1
HGVS	NC_000001.10:g.43396413C>T
CLNSRC
CLNACC	RCV000415325.1, RCV000458446.1,