rs7079679

This is a intron variant variant in the PKD2L1 gene.

▶

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 A

OR 0.41

p 2.0e-9

N 6,577

Large GWAS

multi-ancestry

About PKD2L1

This gene encodes a member of the polycystin protein family. The encoded protein contains multiple transmembrane domains, and cytoplasmic N- and C-termini. The protein may be an integral membrane protein involved in cell-cell/matrix interactions. This protein functions as a calcium-regulated nonselective cation channel. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]

View all PKD2L1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Loading comments…