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rs80359812

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs80359812(A;T)
Make rs80359812(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position42943239
GeneSLC2A1
is asnp
is mentioned by
dbSNPrs80359812
ebirs80359812
HLIrs80359812
Exacrs80359812
Varsomers80359812
Maprs80359812
PheGenIrs80359812
hapmaprs80359812
1000 genomesrs80359812
hgdprs80359812
ensemblrs80359812
gopubmedrs80359812
geneviewrs80359812
scholarrs80359812
googlers80359812
pharmgkbrs80359812
gwascentralrs80359812
openSNPrs80359812
23andMers80359812
23andMe allrs80359812
SNP Nexus

SNPshotrs80359812
SNPdbers80359812
MSV3drs80359812
GWAS Ctlgrs80359812
Max Magnitude0
ClinVar
Risk rs80359812(T;T)
Alt rs80359812(T;T)
Reference rs80359812(A;A)
Significance Pathogenic
Disease GLUT1 deficiency syndrome 2
Variation info
Gene SLC2A1
CLNDBN GLUT1 deficiency syndrome 2
Reversed 1
HGVS NC_000001.10:g.43408910T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000030921.23,


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