rs34603401
This variant is located in the H6PD gene.
▶GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
blood protein amount
Gudjonsson A et al. “A genome-wide association study of serum proteins reveals shared loci with common diseases.” Nature Communications 13(1):480 (2022)
Allele C
OR 0.76
p 8.0e-162
N 5,364
Large GWAS
European
GDH/6PGL endoplasmic bifunctional protein measurement
Allele C
OR 0.76
p 1.0e-126
N 3,301
Large GWAS
European
level of endophilin-A3 in blood serum
Kuliesius J et al. “Efficient candidate drug target discovery through proteogenomics in a Scottish cohort.” Communications Biology 8(1):1300 (2025)
Allele C
OR 0.93
p 2.0e-12
N 199
Small GWAS
European
▶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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