rs4704397
This is a intron variant variant in the PDE8B gene.
▶GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
body height
Yengo L et al. “A saturated map of common genetic variants associated with human height.” Nature 610(7933):704-712 (2022)
Allele G
OR 0.01
p 2.0e-29
N 5,314,291
Large GWAS
European, Hispanic or Latin American, East Asian, African unspecified, South Asian
thyroid function
Arnaud-Lopez L et al. “Phosphodiesterase 8B gene variants are associated with serum TSH levels and thyroid function.” American Journal of Human Genetics 82(6):1270-80 (2008)
Allele A
OR 0.25
p 2.0e-20
N 4,300
Large GWAS
European
About PDE8B
The protein encoded by this gene is a cyclic nucleotide phosphodiesterase (PDE) that catalyzes the hydrolysis of the second messenger cAMP. The encoded protein, which does not hydrolyze cGMP, is resistant to several PDE inhibitors. Defects in this gene are a cause of autosomal dominant striatal degeneration (ADSD). Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jul 2010]
View all PDE8B variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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