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rs80359829

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in complete genomics
Make rs80359829(A;T)
Make rs80359829(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position42927154
GeneSLC2A1
is asnp
is mentioned by
dbSNPrs80359829
ebirs80359829
HLIrs80359829
Exacrs80359829
Varsomers80359829
Maprs80359829
PheGenIrs80359829
hapmaprs80359829
1000 genomesrs80359829
hgdprs80359829
ensemblrs80359829
gopubmedrs80359829
geneviewrs80359829
scholarrs80359829
googlers80359829
pharmgkbrs80359829
gwascentralrs80359829
openSNPrs80359829
23andMers80359829
23andMe allrs80359829
SNP Nexus

SNPshotrs80359829
SNPdbers80359829
MSV3drs80359829
GWAS Ctlgrs80359829
Max Magnitude0
OMIM138140
Desc
Variant0002
Relatedalso
ClinVar
Risk rs80359829(T;T)
Alt rs80359829(T;T)
Reference rs80359829(A;A)
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.43392825T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000017486.23,


[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.