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rs80356492

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80356492(A;A)
Make rs80356492(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position119025215
GeneSLC37A4
is asnp
is mentioned by
dbSNPrs80356492
ebirs80356492
HLIrs80356492
Exacrs80356492
Varsomers80356492
Maprs80356492
PheGenIrs80356492
hapmaprs80356492
1000 genomesrs80356492
hgdprs80356492
ensemblrs80356492
gopubmedrs80356492
geneviewrs80356492
scholarrs80356492
googlers80356492
pharmgkbrs80356492
gwascentralrs80356492
openSNPrs80356492
23andMers80356492
23andMe allrs80356492
SNP Nexus

SNPshotrs80356492
SNPdbers80356492
MSV3drs80356492
GWAS Ctlgrs80356492
Max Magnitude0
ClinVar
Risk rs80356492(A;A)
Alt rs80356492(A;A)
Reference rs80356492(G;G)
Significance Untested
Disease not provided
Variation info
Gene SLC37A4
CLNDBN not provided
Reversed 1
HGVS NC_000011.9:g.118895925C>T
CLNSRC UniProtKB (variants)
CLNACC RCV000059118.1,


[PMID 10518030] Mutations in the glucose-6-phosphate transporter (G6PT) gene in patients with glycogen storage diseases type 1b and 1c.


[PMID 10923042] Molecular analysis in glycogen storage disease 1 non-A: DHPLC detection of the highly prevalent exon 8 mutations of the G6PT1 gene in German patients.