rs556189727

This variant is located in the H6PD gene.

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GWAS Catalog Trait Associations (1)

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

GDH/6PGL endoplasmic bifunctional protein measurement

Sun BB et al. “Genomic atlas of the human plasma proteome.” Nature 558(7708):73-79 (2018)

Allele G

OR —

β 0.440

p 3.0e-38

N 3,301

Large GWAS

European

About H6PD

There are 2 forms of glucose-6-phosphate dehydrogenase. G form is X-linked and H form, encoded by this gene, is autosomally linked. This H form shows activity with other hexose-6-phosphates, especially galactose-6-phosphate, whereas the G form is specific for glucose-6-phosphate. Both forms are present in most tissues, but H form is not found in red cells. [provided by RefSeq, Jul 2008]

View all H6PD variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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