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rs80359818

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80359818(C;T)
Make rs80359818(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position42930766
GeneSLC2A1
is asnp
is mentioned by
dbSNPrs80359818
ebirs80359818
HLIrs80359818
Exacrs80359818
Varsomers80359818
Maprs80359818
PheGenIrs80359818
hapmaprs80359818
1000 genomesrs80359818
hgdprs80359818
ensemblrs80359818
gopubmedrs80359818
geneviewrs80359818
scholarrs80359818
googlers80359818
pharmgkbrs80359818
gwascentralrs80359818
openSNPrs80359818
23andMers80359818
23andMe allrs80359818
SNP Nexus

SNPshotrs80359818
SNPdbers80359818
MSV3drs80359818
GWAS Ctlgrs80359818
Max Magnitude0
ClinVar
Risk rs80359818(T;T)
Alt rs80359818(T;T)
Reference rs80359818(C;C)
Significance Pathogenic
Disease Glucose transporter type 1 deficiency syndrome GLUT1 deficiency syndrome 2 Dystonia 9 not provided Epilepsy
Variation info
Gene SLC2A1
CLNDBN Glucose transporter type 1 deficiency syndrome GLUT1 deficiency syndrome 2 Dystonia 9 not provided Epilepsy, idiopathic generalized, susceptibility to, 12
Reversed 1
HGVS NC_000001.10:g.43396437G>A
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000017498.23, RCV000030838.27, RCV000030839.27, RCV000081431.5, RCV000178276.1,


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