rs2046045
This is a intron variant variant in the PDE8B gene.
▶GWAS Catalog Trait Associations (4)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (4)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
Thyroid stimulating hormone level
Williams AT et al. “Genome-wide association study of thyroid-stimulating hormone highlights new genes, pathways and associations with thyroid disease.” Nature Communications 14(1):6713 (2023)
Allele T
OR 0.15
p —
N 247,107
Large GWAS
multi-ancestry
Jee YH et al. “Genome-wide association studies in a large Korean cohort identify quantitative trait loci for 36 traits and illuminate their genetic architectures.” Nature Communications 16(1):4935 (2025)
Allele T
OR 0.11
p 2.0e-84
N 153,950
Large GWAS
East Asian
Taylor PN et al. “Whole-genome sequence-based analysis of thyroid function.” Nature Communications 6:5681 (2015)
Allele T
OR 0.14
p 4.0e-33
N 16,335
Large GWAS
European
level of thyrotropin subunit beta in blood
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele G
OR 0.13
p 6.0e-128
N 47,745
Large GWAS
European
thyroid function
Rawal R et al. “Meta-analysis of two genome-wide association studies identifies four genetic loci associated with thyroid function.” Human Molecular Genetics 21(14):3275-82 (2012)
Allele T
OR 0.12
p 3.0e-27
N 3,736
Meta-analysis
European
hyperthyroidism
Teumer A et al. “Genome-wide analyses identify a role for SLC17A4 and AADAT in thyroid hormone regulation.” Nature Communications 9(1):4455 (2018)
Allele T
OR 0.33
p 4.0e-22
N 51,823
Large GWAS
European
Wei Y et al. “Genome-wide association studies of thyroid-related hormones, dysfunction, and autoimmunity among 85,421 Chinese pregnancies.” Nature Communications 15(1):8004 (2024)
Allele T
OR 1.41
p 3.0e-8
N 69,788
Large GWAS
East Asian
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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