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rs80359819

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80359819(A;A)
Make rs80359819(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position42930754
GeneSLC2A1
is asnp
is mentioned by
dbSNPrs80359819
ebirs80359819
HLIrs80359819
Exacrs80359819
Varsomers80359819
Maprs80359819
PheGenIrs80359819
hapmaprs80359819
1000 genomesrs80359819
hgdprs80359819
ensemblrs80359819
gopubmedrs80359819
geneviewrs80359819
scholarrs80359819
googlers80359819
pharmgkbrs80359819
gwascentralrs80359819
openSNPrs80359819
23andMers80359819
23andMe allrs80359819
SNP Nexus

SNPshotrs80359819
SNPdbers80359819
MSV3drs80359819
GWAS Ctlgrs80359819
Max Magnitude0
ClinVar
Risk rs80359819(A;A)
Alt rs80359819(A;A)
Reference rs80359819(G;G)
Significance Pathogenic
Disease not provided
Variation info
Gene SLC2A1
CLNDBN not provided
Reversed 1
HGVS NC_000001.10:g.43396425C>G
CLNSRC
CLNACC RCV000189352.1,


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