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rs80359843

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80359843(G;T)
Make rs80359843(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position42929209
GeneSLC2A1
is asnp
is mentioned by
dbSNPrs80359843
ebirs80359843
HLIrs80359843
Exacrs80359843
Varsomers80359843
Maprs80359843
PheGenIrs80359843
hapmaprs80359843
1000 genomesrs80359843
hgdprs80359843
ensemblrs80359843
gopubmedrs80359843
geneviewrs80359843
scholarrs80359843
googlers80359843
pharmgkbrs80359843
gwascentralrs80359843
openSNPrs80359843
23andMers80359843
23andMe allrs80359843
SNP Nexus

SNPshotrs80359843
SNPdbers80359843
MSV3drs80359843
GWAS Ctlgrs80359843
Max Magnitude0
ClinVar
Risk rs80359843(C,T;C,T)
Alt rs80359843(C,T;C,T)
Reference rs80359843(G;G)
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.43394880C>A
CLNSRC
CLNACC


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