rs200787930

This is a protein-altering variant in the PLCB2 gene.

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GWAS Catalog Trait Associations (4)

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

coronary artery disease

Yamada Y et al. “Identification of 26 novel loci that confer susceptibility to early-onset coronary artery disease in a Japanese population.” Biomedical Reports 9(5):383-404 (2018)
Allele T
OR 33.33
p 1.0e-29
N 7,256
Large GWAS
East Asian

myocardial infarction

Yamada Y et al. “Identification of 13 novel susceptibility loci for early-onset myocardial infarction, hypertension, or chronic kidney disease.” International Journal of Molecular Medicine 42(5):2415-2436 (2018)
Allele C
OR 100.00
p 9.0e-26
N 6,926
Large GWAS
East Asian

chronic kidney disease

Yamada Y et al. “Identification of 13 novel susceptibility loci for early-onset myocardial infarction, hypertension, or chronic kidney disease.” International Journal of Molecular Medicine 42(5):2415-2436 (2018)
Allele C
OR 4.35
p 5.0e-8
N 2,556
Large GWAS
East Asian

About PLCB2

The protein encoded by this gene is a phosphodiesterase that catalyzes the hydrolysis of phosphatidylinositol 4,5-bisphosphate to the second messengers inositol 1,4,5-trisphosphate (IP3) and diacylglycerol. The encoded protein is activated by G proteins and has been shown to be involved in the type 2 taste receptor signal transduction pathway. In addition, nuclear factor kappa B can regulate the transcription of this gene, whose protein product is also an important regulator of platelet responses. [provided by RefSeq, Jan 2017]

View all PLCB2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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