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rs80359814

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs80359814(A;A)
Make rs80359814(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position42931049
GeneSLC2A1
is asnp
is mentioned by
dbSNPrs80359814
ebirs80359814
HLIrs80359814
Exacrs80359814
Varsomers80359814
Maprs80359814
PheGenIrs80359814
hapmaprs80359814
1000 genomesrs80359814
hgdprs80359814
ensemblrs80359814
gopubmedrs80359814
geneviewrs80359814
scholarrs80359814
googlers80359814
pharmgkbrs80359814
gwascentralrs80359814
openSNPrs80359814
23andMers80359814
23andMe allrs80359814
SNP Nexus

SNPshotrs80359814
SNPdbers80359814
MSV3drs80359814
GWAS Ctlgrs80359814
Max Magnitude0
OMIM138140
Desc
Variant0006
Relatedalso
ClinVar
Risk rs80359814(A;A)
Alt rs80359814(A;A)
Reference rs80359814(G;G)
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.43396720C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000017490.28,


[PMID 11136715] Autosomal dominant transmission of GLUT1 deficiency.