rs1057518821

Orientation

minus

Stabilized

minus

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

Make rs1057518821(-;G)

Make rs1057518821(G;G)

Reference

GRCh38.p7 38.3/150

Chromosome

1

Position

42930671

Gene

SLC2A1

is a	snp
is	mentioned by
dbSNP	rs1057518821
dbSNP (classic)	rs1057518821
ClinGen	rs1057518821
ebi	rs1057518821
HLI	rs1057518821
Exac	rs1057518821
Gnomad	rs1057518821
Varsome	rs1057518821
LitVar	rs1057518821
Map	rs1057518821
PheGenI	rs1057518821
Biobank	rs1057518821
1000 genomes	rs1057518821
hgdp	rs1057518821
ensembl	rs1057518821
geneview	rs1057518821
scholar	rs1057518821
google	rs1057518821
pharmgkb	rs1057518821
gwascentral	rs1057518821
openSNP	rs1057518821
23andMe	rs1057518821
SNPshot	rs1057518821
SNPdbe	rs1057518821
MSV3d	rs1057518821
GWAS Ctlg	rs1057518821

Max Magnitude

0

ClinVar
Risk	rs1057518821(G;G)
Alt	rs1057518821(G;G)
Reference	Rs1057518821(-;-)
Significance	Pathogenic
Disease	Ataxia Global developmental delay Microcephaly Myoclonus Seizures
Variation	info
Gene	SLC2A1
CLNDBN	Ataxia Global developmental delay Microcephaly Myoclonus Seizures
Reversed	1
HGVS	NC_000001.10:g.43396343dupC
CLNSRC
CLNACC	RCV000415305.1,