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rs80359827

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80359827(C;T)
Make rs80359827(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position42927694
GeneSLC2A1
is asnp
is mentioned by
dbSNPrs80359827
ebirs80359827
HLIrs80359827
Exacrs80359827
Varsomers80359827
Maprs80359827
PheGenIrs80359827
hapmaprs80359827
1000 genomesrs80359827
hgdprs80359827
ensemblrs80359827
gopubmedrs80359827
geneviewrs80359827
scholarrs80359827
googlers80359827
pharmgkbrs80359827
gwascentralrs80359827
openSNPrs80359827
23andMers80359827
23andMe allrs80359827
SNP Nexus

SNPshotrs80359827
SNPdbers80359827
MSV3drs80359827
GWAS Ctlgrs80359827
Max Magnitude0
ClinVar
Risk rs80359827(T;T)
Alt rs80359827(T;T)
Reference rs80359827(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.43393365G>A
CLNSRC
CLNACC


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