rs4791291

This is a intron variant variant in the PITPNC1 gene.

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GWAS Catalog Trait Associations (1)

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

inflammatory biomarker measurement, YKL40 measurement

Zhang R et al. “Genome-wide study of immune biomarkers in cerebrospinal fluid and serum from patients with bipolar disorder and controls.” Translational Psychiatry 10(1):58 (2020)

Allele T

OR 16959.00

p 1.0e-8

N 291

Small GWAS

European

About PITPNC1

This gene encodes a member of the phosphatidylinositol transfer protein family. The encoded cytoplasmic protein plays a role in multiple processes including cell signaling and lipid metabolism by facilitating the transfer of phosphatidylinositol between membrane compartments. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 1. [provided by RefSeq, May 2012]

View all PITPNC1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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