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rs80359813

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80359813(C;T)
Make rs80359813(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position42931124
GeneSLC2A1
is asnp
is mentioned by
dbSNPrs80359813
ebirs80359813
HLIrs80359813
Exacrs80359813
Varsomers80359813
Maprs80359813
PheGenIrs80359813
hapmaprs80359813
1000 genomesrs80359813
hgdprs80359813
ensemblrs80359813
gopubmedrs80359813
geneviewrs80359813
scholarrs80359813
googlers80359813
pharmgkbrs80359813
gwascentralrs80359813
openSNPrs80359813
23andMers80359813
23andMe allrs80359813
SNP Nexus

SNPshotrs80359813
SNPdbers80359813
MSV3drs80359813
GWAS Ctlgrs80359813
Max Magnitude0
ClinVar
Risk rs80359813(T;T)
Alt rs80359813(T;T)
Reference rs80359813(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.43396795G>A
CLNSRC
CLNACC


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