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rs80359834

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs80359834(-;-)
Make rs80359834(-;G)
Make rs80359834(G;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position42929750
GeneSLC2A1
is asnp
is mentioned by
dbSNPrs80359834
ebirs80359834
HLIrs80359834
Exacrs80359834
Varsomers80359834
Maprs80359834
PheGenIrs80359834
hapmaprs80359834
1000 genomesrs80359834
hgdprs80359834
ensemblrs80359834
gopubmedrs80359834
geneviewrs80359834
scholarrs80359834
googlers80359834
pharmgkbrs80359834
gwascentralrs80359834
openSNPrs80359834
23andMers80359834
23andMe allrs80359834
SNP Nexus

SNPshotrs80359834
SNPdbers80359834
MSV3drs80359834
GWAS Ctlgrs80359834
Max Magnitude0
ClinVar
Risk rs80359834(G;G)
Alt rs80359834(G;G)
Reference rs80359834(;)
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.43395421_43395422insC
CLNSRC
CLNACC


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