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rs80359823

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80359823(C;T)
Make rs80359823(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position42929298
GeneSLC2A1
is asnp
is mentioned by
dbSNPrs80359823
ebirs80359823
HLIrs80359823
Exacrs80359823
Varsomers80359823
Maprs80359823
PheGenIrs80359823
hapmaprs80359823
1000 genomesrs80359823
hgdprs80359823
ensemblrs80359823
gopubmedrs80359823
geneviewrs80359823
scholarrs80359823
googlers80359823
pharmgkbrs80359823
gwascentralrs80359823
openSNPrs80359823
23andMers80359823
23andMe allrs80359823
SNP Nexus

SNPshotrs80359823
SNPdbers80359823
MSV3drs80359823
GWAS Ctlgrs80359823
Max Magnitude0
ClinVar
Risk rs80359823(T;T)
Alt rs80359823(T;T)
Reference rs80359823(C;C)
Significance Pathogenic
Disease not provided Glucose transporter type 1 deficiency syndrome
Variation info
Gene SLC2A1
CLNDBN not provided Glucose transporter type 1 deficiency syndrome
Reversed 1
HGVS NC_000001.10:g.43394969G>A
CLNSRC
CLNACC RCV000189397.2, RCV000193872.1,


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