rs35404275
This variant is located in the H6PD gene.
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
level of GDH/6PGL endoplasmic bifunctional protein in blood serum
Surapaneni A et al. “Identification of 969 protein quantitative trait loci in an African American population with kidney disease attributed to hypertension.” Kidney International 102(5):1167-1177 (2022)
Allele G
OR 1.31
p 1.0e-12
N 466
Small GWAS
African American or Afro-Caribbean
▶ClinVar annotation
Benign★★★☆
2 submitters2 publicationsAbout 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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