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rs80359815

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80359815(A;A)
Make rs80359815(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position42930864
GeneSLC2A1
is asnp
is mentioned by
dbSNPrs80359815
ebirs80359815
HLIrs80359815
Exacrs80359815
Varsomers80359815
Maprs80359815
PheGenIrs80359815
hapmaprs80359815
1000 genomesrs80359815
hgdprs80359815
ensemblrs80359815
gopubmedrs80359815
geneviewrs80359815
scholarrs80359815
googlers80359815
pharmgkbrs80359815
gwascentralrs80359815
openSNPrs80359815
23andMers80359815
23andMe allrs80359815
SNP Nexus

SNPshotrs80359815
SNPdbers80359815
MSV3drs80359815
GWAS Ctlgrs80359815
Max Magnitude0
ClinVar
Risk rs80359815(A;A)
Alt rs80359815(A;A)
Reference rs80359815(G;G)
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.43396535C>T
CLNSRC
CLNACC


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