rs1805741

This variant is located in the PHC1 gene.

GWAS Catalog Trait Associations (3)

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

eosinophil percentage of leukocytes

Allele T
OR 0.02
p 2.0e-15
N 394,642
Large GWAS
European
Vuckovic D et al. The Polygenic and Monogenic Basis of Blood Traits and Diseases. Cell 182(5):1214-1231.e11 (2020)
Allele T
OR 0.02
p 8.0e-10
N 408,112
Large GWAS
European

ClinVar annotation

Benign★★★
3 submitters1 publication

not provided; Microcephaly 11, primary, autosomal recessive

View on ClinVar →

About PHC1

This gene is a homolog of the Drosophila polyhomeotic gene, which is a member of the Polycomb group of genes. The gene product is a component of a multimeric protein complex that contains EDR2 and the vertebrate Polycomb protein BMH1. The gene product, the EDR2 protein, and the Drosophila polyhomeotic protein share 2 highly conserved domains, named homology domains I and II. These domains are involved in protein-protein interactions and may mediate heterodimerization of the protein encoded by this gene and the EDR2 protein. [provided by RefSeq, Jul 2008]

View all PHC1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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