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rs80359824

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80359824(C;T)
Make rs80359824(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position42929253
GeneSLC2A1
is asnp
is mentioned by
dbSNPrs80359824
ebirs80359824
HLIrs80359824
Exacrs80359824
Varsomers80359824
Maprs80359824
PheGenIrs80359824
hapmaprs80359824
1000 genomesrs80359824
hgdprs80359824
ensemblrs80359824
gopubmedrs80359824
geneviewrs80359824
scholarrs80359824
googlers80359824
pharmgkbrs80359824
gwascentralrs80359824
openSNPrs80359824
23andMers80359824
23andMe allrs80359824
SNP Nexus

SNPshotrs80359824
SNPdbers80359824
MSV3drs80359824
GWAS Ctlgrs80359824
Max Magnitude0
ClinVar
Risk rs80359824(T;T)
Alt rs80359824(T;T)
Reference rs80359824(C;C)
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.43394924G>A
CLNSRC
CLNACC


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