rs2296740

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.

body height

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 0.01

p 6.0e-48

N 394,642

Large GWAS

European

age at initiation of smoking

Saunders GRB et al. “Genetic diversity fuels gene discovery for tobacco and alcohol use.” Nature 612(7941):720-724 (2022)

Allele G

OR 0.01

p 1.0e-10

N 618,541

Large GWAS

European

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ClinVar annotation

Benign★☆☆☆

1 submitter

View on ClinVar →

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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