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rs80359842

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(TGGTACGGGCAT;TGGTACGGGCAT) 0 common in clinvar
Make rs80359842(-;-)
Make rs80359842(-;TGGTACGGGCAT)
ReferenceGRCh38 38.1/141
Chromosome1
Position42929863
GeneSLC2A1
is asnp
is mentioned by
dbSNPrs80359842
ebirs80359842
HLIrs80359842
Exacrs80359842
Varsomers80359842
Maprs80359842
PheGenIrs80359842
hapmaprs80359842
1000 genomesrs80359842
hgdprs80359842
ensemblrs80359842
gopubmedrs80359842
geneviewrs80359842
scholarrs80359842
googlers80359842
pharmgkbrs80359842
gwascentralrs80359842
openSNPrs80359842
23andMers80359842
23andMe allrs80359842
SNP Nexus

SNPshotrs80359842
SNPdbers80359842
MSV3drs80359842
GWAS Ctlgrs80359842
Max Magnitude0
ClinVar
Risk
Alt
Reference Rs80359842(TGGTACGGGCAT;TGGTACGGGCAT)
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.43395534_43395545delATGCCCGTACCAinsTC
CLNSRC
CLNACC


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