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rs80359830

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CA;CA) 0 common in clinvar
Make rs80359830(CA;T)
Make rs80359830(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position42943252
GeneSLC2A1
is asnp
is mentioned by
dbSNPrs80359830
ebirs80359830
HLIrs80359830
Exacrs80359830
Varsomers80359830
Maprs80359830
PheGenIrs80359830
hapmaprs80359830
1000 genomesrs80359830
hgdprs80359830
ensemblrs80359830
gopubmedrs80359830
geneviewrs80359830
scholarrs80359830
googlers80359830
pharmgkbrs80359830
gwascentralrs80359830
openSNPrs80359830
23andMers80359830
23andMe allrs80359830
SNP Nexus

SNPshotrs80359830
SNPdbers80359830
MSV3drs80359830
GWAS Ctlgrs80359830
Max Magnitude0
ClinVar
Risk rs80359830(T;T)
Alt rs80359830(T;T)
Reference rs80359830(CA;CA)
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.43408923_43408924delTGinsA
CLNSRC
CLNACC


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