rs192812042

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

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GWAS Catalog Trait Associations (1)

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

vascular endothelial growth factor D measurement

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele A
OR 0.50
p 1.0e-244
N 10,708
Large GWAS
European
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 A
OR 0.47
p 2.0e-122
N 5,364
Large GWAS
European
Davidsson P et al. “Vascular endothelial growth factor-D plasma levels and VEGFD genetic variants are independently associated with outcomes in patients with cardiovascular disease.” Cardiovascular Research 119(7):1596-1605 (2023)
Allele A
OR 0.26
p 2.0e-61
N 1,966
Large GWAS
multi-ancestry

About PIR

This gene encodes a member of the cupin superfamily. The encoded protein is an Fe(II)-containing nuclear protein expressed in all tissues of the body and concentrated within dot-like subnuclear structures. Interactions with nuclear factor I/CCAAT box transcription factor as well as B cell lymphoma 3-encoded oncoprotein suggest the encoded protein may act as a transcriptional cofactor and be involved in the regulation of DNA transcription and replication. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2008]

View all PIR variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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