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rs80359825

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80359825(C;T)
Make rs80359825(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position42929009
GeneSLC2A1
is asnp
is mentioned by
dbSNPrs80359825
ebirs80359825
HLIrs80359825
Exacrs80359825
Varsomers80359825
Maprs80359825
PheGenIrs80359825
hapmaprs80359825
1000 genomesrs80359825
hgdprs80359825
ensemblrs80359825
gopubmedrs80359825
geneviewrs80359825
scholarrs80359825
googlers80359825
pharmgkbrs80359825
gwascentralrs80359825
openSNPrs80359825
23andMers80359825
23andMe allrs80359825
SNP Nexus

SNPshotrs80359825
SNPdbers80359825
MSV3drs80359825
GWAS Ctlgrs80359825
Max Magnitude0
ClinVar
Risk rs80359825(T;T)
Alt rs80359825(T;T)
Reference rs80359825(C;C)
Significance Pathogenic
Disease Epilepsy Glucose transporter type 1 deficiency syndrome
Variation info
Gene SLC2A1
CLNDBN Epilepsy, idiopathic generalized, susceptibility to, 12 Glucose transporter type 1 deficiency syndrome
Reversed 1
HGVS NC_000001.10:g.43394680G>A
CLNSRC
CLNACC RCV000180299.1, RCV000180300.1,


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