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rs80359833

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs80359833(-;-)
Make rs80359833(-;C)
Make rs80359833(C;C)
ReferenceGRCh38 38.1/141
Chromosome1
Position42929989
GeneSLC2A1
is asnp
is mentioned by
dbSNPrs80359833
ebirs80359833
HLIrs80359833
Exacrs80359833
Varsomers80359833
Maprs80359833
PheGenIrs80359833
hapmaprs80359833
1000 genomesrs80359833
hgdprs80359833
ensemblrs80359833
gopubmedrs80359833
geneviewrs80359833
scholarrs80359833
googlers80359833
pharmgkbrs80359833
gwascentralrs80359833
openSNPrs80359833
23andMers80359833
23andMe allrs80359833
SNP Nexus

SNPshotrs80359833
SNPdbers80359833
MSV3drs80359833
GWAS Ctlgrs80359833
Max Magnitude0
ClinVar
Risk rs80359833(C;C)
Alt rs80359833(C;C)
Reference rs80359833(;)
Significance Pathogenic
Disease Glucose transporter type 1 deficiency syndrome
Variation info
Gene SLC2A1
CLNDBN Glucose transporter type 1 deficiency syndrome
Reversed 1
HGVS NC_000001.10:g.43395660_43395661insG
CLNSRC
CLNACC


[PMID 15622525] Glut-1 deficiency syndrome: clinical, genetic, and therapeutic aspects.