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rs80359822

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AA;AA) 0 common in clinvar
Make rs80359822(AA;GT)
Make rs80359822(GT;GT)
ReferenceGRCh38 38.1/141
Chromosome1
Position42929693
GeneSLC2A1
is asnp
is mentioned by
dbSNPrs80359822
ebirs80359822
HLIrs80359822
Exacrs80359822
Varsomers80359822
Maprs80359822
PheGenIrs80359822
hapmaprs80359822
1000 genomesrs80359822
hgdprs80359822
ensemblrs80359822
gopubmedrs80359822
geneviewrs80359822
scholarrs80359822
googlers80359822
pharmgkbrs80359822
gwascentralrs80359822
openSNPrs80359822
23andMers80359822
23andMe allrs80359822
SNP Nexus

SNPshotrs80359822
SNPdbers80359822
MSV3drs80359822
GWAS Ctlgrs80359822
Max Magnitude0
ClinVar
Risk rs80359822(GT;GT)
Alt rs80359822(GT;GT)
Reference rs80359822(AA;AA)
Significance Pathogenic
Disease GLUT1 deficiency syndrome 1 not specified
Variation info
Gene SLC2A1
CLNDBN GLUT1 deficiency syndrome 1, autosomal recessive not specified
Reversed 1
HGVS NC_000001.10:g.43395364_43395365delTTinsAC
CLNSRC OMIM Allelic Variant
CLNACC RCV000017488.29, RCV000189388.1,


[PMID 10980529] Mutational analysis of GLUT1 (SLC2A1) in Glut-1 deficiency syndrome.


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