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rs80356489

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 5 glycogen storage disease type 1b disease allele
(C;T) 3 carrier for glycogen storage disease type 1b disease allele
(T;T) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome11
Position119028223
GeneSLC37A4
is asnp
is mentioned by
dbSNPrs80356489
ebirs80356489
HLIrs80356489
Exacrs80356489
Varsomers80356489
Maprs80356489
PheGenIrs80356489
hapmaprs80356489
1000 genomesrs80356489
hgdprs80356489
ensemblrs80356489
gopubmedrs80356489
geneviewrs80356489
scholarrs80356489
googlers80356489
pharmgkbrs80356489
gwascentralrs80356489
openSNPrs80356489
23andMers80356489
23andMe allrs80356489
SNP Nexus

SNPshotrs80356489
SNPdbers80356489
MSV3drs80356489
GWAS Ctlgrs80356489
Max Magnitude5

rs80356489, also known as Trp118Arg or W118R, is a SNP in the solute carrier family 37 (glucose-6-phosphate transporter), member 4 SLC37A4 gene.

This mutation is reported by 23andMe as accounting for approximately 40% of glycogen storage disease type 1b-causing mutations in people of Japanese ancestry; 23andMe uses the term i5012878 for this SNP.

OMIM602671
Desc
Variant0003
Relatedalso
ClinVar
Risk rs80356489(C;C)
Alt rs80356489(C;C)
Reference rs80356489(T;T)
Significance Pathogenic
Disease Glucose-6-phosphate transport defect not provided
Variation info
Gene SLC37A4
CLNDBN Glucose-6-phosphate transport defect not provided
Reversed 1
HGVS NC_000011.9:g.118898933A>G
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000007332.4, RCV000059128.1,


[PMID 9675154] Molecular analysis of glycogen storage disease type Ib: identification of a prevalent mutation among Japanese patients and assignment of a putative glucose-6-phosphate translocase gene to chromosome 11.

[PMID 10385064] Case report: Hepatocellular carcinoma in type 1a glycogen storage disease with identification of a glucose-6-phosphatase gene mutation in one family.

[PMID 10482875] Glycogen storage disease type Ib: structural and mutational analysis of the microsomal glucose-6-phosphate transporter gene.

[PMID 12373566] Glycogen storage disease type I: diagnosis and phenotype/genotype correlation.

[PMID 15059622] Genetic testing of glycogen storage disease type Ib in Japan: five novel G6PT1 mutations and a rapid detection method for a prevalent mutation W118R.

[PMID 9675154] Molecular analysis of glycogen storage disease type Ib: identification of a prevalent mutation among Japanese patients and assignment of a putative glucose-6-phosphate translocase gene to chromosome 11.