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rs80359836

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80359836(-;-)
Make rs80359836(-;C)
ReferenceGRCh38 38.1/141
Chromosome1
Position42929670
GeneSLC2A1
is asnp
is mentioned by
dbSNPrs80359836
ebirs80359836
HLIrs80359836
Exacrs80359836
Varsomers80359836
Maprs80359836
PheGenIrs80359836
hapmaprs80359836
1000 genomesrs80359836
hgdprs80359836
ensemblrs80359836
gopubmedrs80359836
geneviewrs80359836
scholarrs80359836
googlers80359836
pharmgkbrs80359836
gwascentralrs80359836
openSNPrs80359836
23andMers80359836
23andMe allrs80359836
SNP Nexus

SNPshotrs80359836
SNPdbers80359836
MSV3drs80359836
GWAS Ctlgrs80359836
Max Magnitude0
ClinVar
Risk rs80359836(;)
Alt rs80359836(;)
Reference rs80359836(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.43395341delG
CLNSRC
CLNACC


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