FINDbase http://www.findbase.org/

FINDbase

FINDbase worldwide, is an online resource documenting frequencies of clinically relevant genomic variants leading to inherited disorders in various populations worldwide. The initial data came from previously published reports as well as from unpublished information contributed from individual researchers prior of publication. FINDbase data content is available in two separate modules, namely Causative Variants and Pharmacogenomic Biomarkers.

FINDbase was established in 2006 and since then is is considered a key reference for genomic variants allele frequencies worldwide. It has undergone two major upgrades, in 2010 and in 2018, while its content is being regularly updated with new information. 

Database records include the population, the ethnic group and/or the geographic region, the gene name and its variation parameters, the rare allele frequencies, accompanied by links to the respective Online Mendelian Inheritance in Man (OMIM). All entries are recorded against their unique PubMed and ResearcherIDs, in case unpublished information is contributed.

References:

  • van Baal S, Kaimakis P, Phommarinh M, Koumbi D, Cuppens H, Riccardino F, Macek M Jr, Scriver CR, Patrinos GP. FINDbase: a relational database recording frequencies of genetic defects leading to inherited disorders worldwide. Nucleic Acids Res. 2007;35(Database issue):D690-D695.
  • Georgitsi M, Viennas E, Gkantouna V, Christodoulopoulou E, Zagoriti Z, Tafrali C, Ntellos F, Giannakopoulou O, Boulakou A, Vlahopoulou P, Kyriacou E, Tsaknakis J, Tsakalidis A, Poulas K, Tzimas G, Patrinos GP. Population-specific documentation of pharmacogenomic markers and their allelic frequencies in FINDbase. Pharmacogenomics. 2011;12(1):49-58.
  • Viennas E, Komianou A, Mizzi C, Stojiljkovic M, Mitropoulou C, Muilu J, Vihinen M, Grypioti P, Papadaki S, Pavlidis C, Zukic B, Katsila T, van der Spek PJ, Pavlovic S, Tzimas G, Patrinos GP. Expanded national database collection and data coverage in the FINDbase worldwide database for clinically relevant genomic variation allele frequencies. Nucleic Acids Res. 2017;45(D1):D846-D853.