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rs80359820

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80359820(A;A)
Make rs80359820(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position42930706
GeneSLC2A1
is asnp
is mentioned by
dbSNPrs80359820
ebirs80359820
HLIrs80359820
Exacrs80359820
Varsomers80359820
Maprs80359820
PheGenIrs80359820
hapmaprs80359820
1000 genomesrs80359820
hgdprs80359820
ensemblrs80359820
gopubmedrs80359820
geneviewrs80359820
scholarrs80359820
googlers80359820
pharmgkbrs80359820
gwascentralrs80359820
openSNPrs80359820
23andMers80359820
23andMe allrs80359820
SNP Nexus

SNPshotrs80359820
SNPdbers80359820
MSV3drs80359820
GWAS Ctlgrs80359820
Max Magnitude0
ClinVar
Risk rs80359820(A;A)
Alt rs80359820(A;A)
Reference rs80359820(G;G)
Significance Pathogenic
Disease not provided
Variation info
Gene SLC2A1
CLNDBN not provided
Reversed 1
HGVS NC_000001.10:g.43396377C>G
CLNSRC
CLNACC RCV000189353.1,


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