rs116825096

This is a regulatory region variant variant in the PDE11A gene.

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GWAS Catalog Trait Associations (1)

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

diffusing capacity of the lung for carbon monoxide

Sakornsakolpat P et al. “Genome-Wide Association Analysis of Single-Breath Dl(CO).” American Journal of Respiratory Cell and Molecular Biology 60(5):523-531 (2019)

Allele T

OR 0.80

p 2.0e-9

N 6,935

Large GWAS

multi-ancestry

About PDE11A

The 3',5'-cyclic nucleotides cAMP and cGMP function as second messengers in a wide variety of signal transduction pathways. 3',5'-cyclic nucleotide phosphodiesterases (PDEs) catalyze the hydrolysis of cAMP and cGMP to the corresponding 5'-monophosphates and provide a mechanism to downregulate cAMP and cGMP signaling. This gene encodes a member of the PDE protein superfamily. Mutations in this gene are a cause of Cushing disease and adrenocortical hyperplasia. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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