rs9394159

This variant is located in the ITPR3 gene.

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GWAS Catalog Trait Associations (2)

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

Graves disease

Nakabayashi K et al. “Identification of independent risk loci for Graves' disease within the MHC in the Japanese population.” Journal of Human Genetics 56(11):772-8 (2011)

Allele T

OR 1.36

p 4.0e-12

N 3,837

Large GWAS

East Asian

tumor necrosis factor receptor superfamily member 4 amount

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)

Allele T

OR 0.03

p 2.0e-11

N 47,745

Large GWAS

European

About ITPR3

This gene encodes a receptor for inositol 1,4,5-trisphosphate, a second messenger that mediates the release of intracellular calcium. The receptor contains a calcium channel at the C-terminus and the ligand-binding site at the N-terminus. Knockout studies in mice suggest that type 2 and type 3 inositol 1,4,5-trisphosphate receptors play a key role in exocrine secretion underlying energy metabolism and growth. [provided by RefSeq, Aug 2010]

View all ITPR3 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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