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rs80359828

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs80359828(A;A)
Make rs80359828(A;C)
ReferenceGRCh38 38.1/141
Chromosome1
Position42927173
GeneSLC2A1
is asnp
is mentioned by
dbSNPrs80359828
ebirs80359828
HLIrs80359828
Exacrs80359828
Varsomers80359828
Maprs80359828
PheGenIrs80359828
hapmaprs80359828
1000 genomesrs80359828
hgdprs80359828
ensemblrs80359828
gopubmedrs80359828
geneviewrs80359828
scholarrs80359828
googlers80359828
pharmgkbrs80359828
gwascentralrs80359828
openSNPrs80359828
23andMers80359828
23andMe allrs80359828
SNP Nexus

SNPshotrs80359828
SNPdbers80359828
MSV3drs80359828
GWAS Ctlgrs80359828
Max Magnitude0
OMIM138140
Desc
Variant0003
Relatedalso
ClinVar
Risk rs80359828(A;A)
Alt rs80359828(A;A)
Reference rs80359828(C;C)
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.43392844G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000017487.27,


[PMID 9462754] GLUT-1 deficiency syndrome caused by haploinsufficiency of the blood-brain barrier hexose carrier.


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