rs62235635

This is a regulatory region variant variant in the PITPNB gene.

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GWAS Catalog Trait Associations (2)

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

breast carcinoma

Michailidou K et al. “Association analysis identifies 65 new breast cancer risk loci.” Nature 551(7678):92-94 (2017)

Allele A

OR 0.47

p 1.0e-27

N 139,274

Large GWAS

multi-ancestry

breast cancer

Harris BHL et al. “New role of fat-free mass in cancer risk linked with genetic predisposition.” Scientific Reports 14(1):7270 (2024)

Allele A

OR 0.47

p 1.0e-8

N 175,905

Large GWAS

European

About PITPNB

This gene encodes a cytoplasmic protein that catalyzes the transfer of phosphatidylinositol and phosphatidylcholine between membranes. This transfer activity is required for COPI complex-mediated retrograde transport from the Golgi apparatus to the endoplasmic reticulum. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Sep 2013]

View all PITPNB variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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