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rs80359838

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(TG;TG) 0 common in clinvar
Make rs80359838(-;-)
Make rs80359838(-;TG)
ReferenceGRCh38 38.1/141
Chromosome1
Position42929025
GeneSLC2A1
is asnp
is mentioned by
dbSNPrs80359838
ebirs80359838
HLIrs80359838
Exacrs80359838
Varsomers80359838
Maprs80359838
PheGenIrs80359838
hapmaprs80359838
1000 genomesrs80359838
hgdprs80359838
ensemblrs80359838
gopubmedrs80359838
geneviewrs80359838
scholarrs80359838
googlers80359838
pharmgkbrs80359838
gwascentralrs80359838
openSNPrs80359838
23andMers80359838
23andMe allrs80359838
SNP Nexus

SNPshotrs80359838
SNPdbers80359838
MSV3drs80359838
GWAS Ctlgrs80359838
Max Magnitude0
ClinVar
Risk rs80359838(;)
Alt rs80359838(;)
Reference rs80359838(TG;TG)
Significance Pathogenic
Disease not provided Epilepsy Glucose transporter type 1 deficiency syndrome
Variation info
Gene SLC2A1
CLNDBN not provided Epilepsy, idiopathic generalized, susceptibility to, 12 Glucose transporter type 1 deficiency syndrome
Reversed 1
HGVS NC_000001.10:g.43394696_43394697delCA
CLNSRC HGMD
CLNACC RCV000081441.3, RCV000180297.1, RCV000180298.1,


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