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rs80359837

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80359837(-;-)
Make rs80359837(-;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position42929275
GeneSLC2A1
is asnp
is mentioned by
dbSNPrs80359837
ebirs80359837
HLIrs80359837
Exacrs80359837
Varsomers80359837
Maprs80359837
PheGenIrs80359837
hapmaprs80359837
1000 genomesrs80359837
hgdprs80359837
ensemblrs80359837
gopubmedrs80359837
geneviewrs80359837
scholarrs80359837
googlers80359837
pharmgkbrs80359837
gwascentralrs80359837
openSNPrs80359837
23andMers80359837
23andMe allrs80359837
SNP Nexus

SNPshotrs80359837
SNPdbers80359837
MSV3drs80359837
GWAS Ctlgrs80359837
Max Magnitude0
ClinVar
Risk rs80359837(;)
Alt rs80359837(;)
Reference rs80359837(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.43394946delC
CLNSRC
CLNACC


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