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rs80359821

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80359821(C;C)
Make rs80359821(C;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position42929719
GeneSLC2A1
is asnp
is mentioned by
dbSNPrs80359821
ebirs80359821
HLIrs80359821
Exacrs80359821
Varsomers80359821
Maprs80359821
PheGenIrs80359821
hapmaprs80359821
1000 genomesrs80359821
hgdprs80359821
ensemblrs80359821
gopubmedrs80359821
geneviewrs80359821
scholarrs80359821
googlers80359821
pharmgkbrs80359821
gwascentralrs80359821
openSNPrs80359821
23andMers80359821
23andMe allrs80359821
SNP Nexus

SNPshotrs80359821
SNPdbers80359821
MSV3drs80359821
GWAS Ctlgrs80359821
Max Magnitude0
ClinVar
Risk rs80359821(C;C)
Alt rs80359821(C;C)
Reference rs80359821(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.43395390C>G
CLNSRC
CLNACC


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