rs11064321

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

GWAS Catalog Trait Associations (1)

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

PILR alpha-associated neural protein measurement

Pietzner M et al. Mapping the proteo-genomic convergence of human diseases. Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele C
OR 0.14
p 1.0e-22
N 10,708
Large GWAS
European
Sun BB et al. Genomic atlas of the human plasma proteome. Nature 558(7708):73-79 (2018)
Allele C
OR 0.21
p 8.0e-15
N 3,301
Large GWAS
European
Allele C
OR 0.24
p 6.0e-13
N 2,935
Large GWAS
Greater Middle Eastern (Middle Eastern, North African or Persian)

About PIANP

This gene encodes a ligand for the paired immunoglobin-like type 2 receptor alpha, and so may be involved in immune regulation. Alternate splicing results in multiple transcript variants encoding different proteins. [provided by RefSeq, Sep 2011]

View all PIANP variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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