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BioBank Japan PheWeb (PheWeb.jp)

Example queries: Type 2 diabetes (T2D) PCSK9 rs671

This website releases genome-wide association study (GWAS) summary statistics of the BioBank Japan Project (BBJ). We provide GWAS results in the Japanese population (mainly from BBJ) using the PheWeb platform, with public access to the full summary statistics.

The BBJ is a prospective genome biobank managed by the Institute of Medical Science, the University of Tokyo. It has collaboratively collected DNA and serum samples from 12 medical institutions across Japan. The project has recruited approximately 260,000 participants, mainly of Japanese ancestry. All study participants were diagnosed with one or more of 51 target diseases. RIKEN Center for Integrative Medical Sciences, the University of Tokyo, and Osaka University contributed to the genotyping of the BBJ samples.

News

March 25, 2025: 3 new GWAS results from Yamamoto, K., et al. (2024), Sasa, N., Kojima, S. & Koide, R., et al. (2025), and Yata, T., Sato, G. & Ogawa, K., et al. (2025).

Phenotypes include Jomon proportion, eHHV-6B positivity, and neuromyelitis optica spectrum disorder (NMOSD).

July 27, 2024: 7 new GWAS results from Sonehara, K. & Yano, Y., et al. (2024), and Suzuki, K., Hatzikotoulas, K., Southam, L., Taylor, HJ., Yin, X., Lorenz, KM. & Mandla, R., et al. (2024).

Phenotypes include recurrent pregnancy loss, and the latest multi-ancestry meta-analysis of T2D.

July 26, 2023: 7 new GWAS results from Akiyama, Y. & Sonehara, K., et al. (2023), and Sato, G., et al. (2023).

Phenotypes include Hunner-type interstitial cystitis, and pan-cancer meta-analyses (e.g., breast cancer).

March 21, 2023: 23 new GWAS results from Ishigaki, K., et al. (2022), and Matoba, N., et al. (2020).

Phenotypes include the latest multi-ancestry meta-analysis of rheumatoid arthritis, and dietary phenotypes (e.g., frequency of natto consumption).

November 18, 2022: 14 new GWAS results from Shirai, Y., et al. (2022), Sonehara, K., et al. (2022), and Namkoong, H. & Edahiro, R., et al. (2022).

Phenotypes include intracranial germ cell tumors, COVID-19 phenotypes (e.g., severe COVID-19 aged less than 65), and multi-trait meta-analysis of autoimmune and/or allergy diseases.

March 12, 2022: cis-miRNA-eQTL results from Sonehara, K. & Sakaue, S., et al. (2022).

Raw data are available for download on the NBDC website.

December 21, 2021: 10 additional GWAS results from Kanai, M., et al. (2021).

Fine-mapping results of 79 traits are also available for download.

September 30, 2021: Sakaue, S. & Kanai, M., et al. (2021) is now published at Nature Genetics.

The article was selected as a cover of the issue.

March 12, 2021: First Release!

We added 220 GWAS results from Sakaue, S. & Kanai, M., et al. (2021), Sakaue, S., et al. (2021), and Okada, Y., et al. (2014).

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