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rs80359840

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs80359840(-;-)
Make rs80359840(-;ATCG)
Make rs80359840(ATCG;ATCG)
ReferenceGRCh38 38.1/141
Chromosome1
Position42927136
GeneSLC2A1
is asnp
is mentioned by
dbSNPrs80359840
ebirs80359840
HLIrs80359840
Exacrs80359840
Varsomers80359840
Maprs80359840
PheGenIrs80359840
hapmaprs80359840
1000 genomesrs80359840
hgdprs80359840
ensemblrs80359840
gopubmedrs80359840
geneviewrs80359840
scholarrs80359840
googlers80359840
pharmgkbrs80359840
gwascentralrs80359840
openSNPrs80359840
23andMers80359840
23andMe allrs80359840
SNP Nexus

SNPshotrs80359840
SNPdbers80359840
MSV3drs80359840
GWAS Ctlgrs80359840
Max Magnitude0
ClinVar
Risk rs80359840(ATCG;ATCG)
Alt rs80359840(ATCG;ATCG)
Reference rs80359840(;)
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.43392807_43392808insCGAT
CLNSRC
CLNACC


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