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rs80359832

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CTC;CTC) 0 common in clinvar
Make rs80359832(-;-)
Make rs80359832(-;CTC)
ReferenceGRCh38 38.1/141
Chromosome1
Position42930635
GeneSLC2A1
is asnp
is mentioned by
dbSNPrs80359832
ebirs80359832
HLIrs80359832
Exacrs80359832
Varsomers80359832
Maprs80359832
PheGenIrs80359832
hapmaprs80359832
1000 genomesrs80359832
hgdprs80359832
ensemblrs80359832
gopubmedrs80359832
geneviewrs80359832
scholarrs80359832
googlers80359832
pharmgkbrs80359832
gwascentralrs80359832
openSNPrs80359832
23andMers80359832
23andMe allrs80359832
SNP Nexus

SNPshotrs80359832
SNPdbers80359832
MSV3drs80359832
GWAS Ctlgrs80359832
Max Magnitude0
ClinVar
Risk rs80359832(;)
Alt rs80359832(;)
Reference rs80359832(CTC;CTC)
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.43396306_43396308delGAG
CLNSRC
CLNACC


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