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rs886044287

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CG;CG) 0 common in clinvar
Chromosome1
Position42929215
GeneSLC2A1
is asnp
is mentioned by
dbSNPrs886044287
dbSNP (classic)rs886044287
ClinGenrs886044287
ebirs886044287
HLIrs886044287
Exacrs886044287
Gnomadrs886044287
Varsomers886044287
LitVarrs886044287
Maprs886044287
PheGenIrs886044287
Biobankrs886044287
1000 genomesrs886044287
hgdprs886044287
ensemblrs886044287
geneviewrs886044287
scholarrs886044287
googlers886044287
pharmgkbrs886044287
gwascentralrs886044287
openSNPrs886044287
23andMers886044287
SNPshotrs886044287
SNPdbers886044287
MSV3drs886044287
GWAS Ctlgrs886044287
Max Magnitude0
ClinVar
Risk rs886044287(-;-)
Alt rs886044287(-;-)
Reference Rs886044287(CG;CG)
Significance Pathogenic
Disease GLUT1 deficiency syndrome 1
Variation info
Gene SLC2A1
CLNDBN GLUT1 deficiency syndrome 1
Reversed 0
HGVS NC_000001.10:g.43394886_43394887delCG
CLNSRC
CLNACC RCV000341326.1,