rs140948272
This is a regulatory region variant variant in the PITPNA gene.
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
FEV change measurement, response to bronchodilator
Hardin M et al. “A genome-wide analysis of the response to inhaled β2-agonists in chronic obstructive pulmonary disease.” The Pharmacogenomics Journal 16(4):326-35 (2016)
Allele C
OR 0.33
p 5.0e-9
N 6,577
Large GWAS
multi-ancestry
About PITPNA
This gene encodes a member of a family of lipid-binding proteins that transfer molecules of phosphatidylinositol or phosphatidylcholine between membrane surfaces. The protein is implicated in phospholipase C signaling and in the production of phosphatidylinositol 3,4,5-trisphosphate (PIP3) by phosphoinositide-3-kinase.[provided by RefSeq, Sep 2009]
View all PITPNA variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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