rs7759

This is a upstream gene variant variant in the DPAGT1 gene.

GWAS Catalog Trait Associations (1)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

body height

Allele G
OR 0.01
p 3.0e-42
N 5,314,291
Large GWAS
European, Hispanic or Latin American, East Asian, African unspecified, South Asian

ClinVar annotation

Benign★★★
3 submitters1 publication

Acute intermittent porphyria (AIP); Congenital disorder of glycosylation (CDG); DPAGT1-congenital disorder of glycosylation

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About DPAGT1

The protein encoded by this gene is an enzyme that catalyzes the first step in the dolichol-linked oligosaccharide pathway for glycoprotein biosynthesis. This enzyme belongs to the glycosyltransferase family 4. This protein is an integral membrane protein of the endoplasmic reticulum. The congenital disorder of glycosylation type Ij is caused by mutation in the gene encoding this enzyme. [provided by RefSeq, Jul 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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