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rs878853161

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AT;AT) 0 common in clinvar
Make rs878853161(-;-)
Make rs878853161(-;AT)
ReferenceGRCh38.p2 38.2/147
Chromosome1
Position42929977
GeneSLC2A1
is asnp
is mentioned by
dbSNPrs878853161
dbSNP (classic)rs878853161
ClinGenrs878853161
ebirs878853161
HLIrs878853161
Exacrs878853161
Gnomadrs878853161
Varsomers878853161
LitVarrs878853161
Maprs878853161
PheGenIrs878853161
Biobankrs878853161
1000 genomesrs878853161
hgdprs878853161
ensemblrs878853161
geneviewrs878853161
scholarrs878853161
googlers878853161
pharmgkbrs878853161
gwascentralrs878853161
openSNPrs878853161
23andMers878853161
SNPshotrs878853161
SNPdbers878853161
MSV3drs878853161
GWAS Ctlgrs878853161
Max Magnitude0
ClinVar
Risk rs878853161(-;-)
Alt rs878853161(-;-)
Reference Rs878853161(AT;AT)
Significance Pathogenic
Disease GLUT1 deficiency syndrome 1
Variation info
Gene SLC2A1
CLNDBN GLUT1 deficiency syndrome 1
Reversed 1
HGVS NC_000001.10:g.43395648_43395649delAT
CLNSRC
CLNACC RCV000224978.1,