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rs80359835

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs80359835(-;-)
Make rs80359835(-;A)
ReferenceGRCh38 38.1/141
Chromosome1
Position42929735
GeneSLC2A1
is asnp
is mentioned by
dbSNPrs80359835
ebirs80359835
HLIrs80359835
Exacrs80359835
Varsomers80359835
Maprs80359835
PheGenIrs80359835
hapmaprs80359835
1000 genomesrs80359835
hgdprs80359835
ensemblrs80359835
gopubmedrs80359835
geneviewrs80359835
scholarrs80359835
googlers80359835
pharmgkbrs80359835
gwascentralrs80359835
openSNPrs80359835
23andMers80359835
23andMe allrs80359835
SNP Nexus

SNPshotrs80359835
SNPdbers80359835
MSV3drs80359835
GWAS Ctlgrs80359835
Max Magnitude0
ClinVar
Risk rs80359835(;)
Alt rs80359835(;)
Reference rs80359835(A;A)
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.43395406delT
CLNSRC
CLNACC


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