rs73598282

This is a intron variant variant in the PLCB1 gene.

GWAS Catalog Trait Associations (2)

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

body weight

Allele A
OR 0.02
p 1.0e-14
N 928,679
Large GWAS
multi-ancestry

body height

Sakaue S et al. A cross-population atlas of genetic associations for 220 human phenotypes. Nature Genetics 53(10):1415-1424 (2021)
Allele A
OR 0.02
p 8.0e-17
N 525,444
Large GWAS
multi-ancestry
Allele A
OR 0.03
p 5.0e-22
N 153,950
Large GWAS
East Asian

About PLCB1

The protein encoded by this gene catalyzes the formation of inositol 1,4,5-trisphosphate and diacylglycerol from phosphatidylinositol 4,5-bisphosphate. This reaction uses calcium as a cofactor and plays an important role in the intracellular transduction of many extracellular signals. This gene is activated by two G-protein alpha subunits, alpha-q and alpha-11. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

View all PLCB1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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