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rs80359839

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80359839(-;-)
Make rs80359839(-;C)
ReferenceGRCh38 38.1/141
Chromosome1
Position42927685
GeneSLC2A1
is asnp
is mentioned by
dbSNPrs80359839
ebirs80359839
HLIrs80359839
Exacrs80359839
Varsomers80359839
Maprs80359839
PheGenIrs80359839
hapmaprs80359839
1000 genomesrs80359839
hgdprs80359839
ensemblrs80359839
gopubmedrs80359839
geneviewrs80359839
scholarrs80359839
googlers80359839
pharmgkbrs80359839
gwascentralrs80359839
openSNPrs80359839
23andMers80359839
23andMe allrs80359839
SNP Nexus

SNPshotrs80359839
SNPdbers80359839
MSV3drs80359839
GWAS Ctlgrs80359839
Max Magnitude0
ClinVar
Risk rs80359839(;)
Alt rs80359839(;)
Reference rs80359839(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.43393356delG
CLNSRC
CLNACC


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