NOTE:
+LOVD is intended for use primarily by physicians and other
+professionals concerned with genetic disorders, by genetics researchers, and
+by advanced students in science and medicine. While the LOVD database is
+open to the public, users seeking information about a personal medical or
+genetic condition are urged to consult with a qualified physician for
+diagnosis and for answers to personal questions. Further, please be
+sure to visit the LOVD web site for the very latest, as they are continually
+updating data.
DOWNLOADS:
+LOVD databases are owned by their respective curators
+and are not available for download or mirroring
+by any third party without their permission. Batch queries on this track are only available via the
+UCSC Beacon API (see below). See also the
+LOVD web site
+for a list of database installations and the respective curators.
+This track shows the genomic positions of all public entries in public +installations of the Leiden Open Variation Database system (LOVD) and the effect of the +variant, if annotated. +UCSC does not host any further information. To get details on a variant +(bibliographic reference, phenotype, disease, patient, etc.), follow the +"Link to LOVD" to the central server at Leiden, which will then redirect you +to the details page on the particular LOVD server reporting this variant. +
+ ++LOVD is a flexible, freely-available tool for gene-centered collection and +display of DNA variations. It is not a database itself, but rather a platform +where curators store and analyze data. While the LOVD team and the biggest LOVD +sites are run at the Leiden University Medical Center, LOVD installations and their +curators are spread over the whole world. Most LOVD databases report at least +some of their content back to Leiden to allow global cross-database search, which +is, among others, exported to this UCSC Genome Browser track every month. +
+A few LOVD databases are entirely missing from this track. Reasons include configuration issues and +intentionally blocked data search. During the last check in June 2015, the following databases did not export any variants: +http://www.ucl.ac.uk/ldlr/Current/, +http://brca.iarc.fr/LOVD/, +http://bioinf4.fcm.unicamp.br/LOVD/, +http://vitigene.igib.res.in, +http://fishmap2.igib.res.in/mirlovd/, +http://www.medgen.mcgill.ca/nndi/, +http://sysbio.org.cn/, +http://genome.igib.res.in/PGx/, +http://www-huge.uni-regensburg.de/BEST1_database/, +http://genome.igib.res.in/tblovd/, +https://ab-openlab.csir.res.in/mitolsdb/, +http://genome.igib.res.in/snolovd/, +http://www.genomed.org/lovd2/, +http://skingenetics.igib.res.in/, +http://mitodyn.org/. Curators who want to share data in their database so it is present in this track can find more details in the LOVD FAQ
+ + +The LOVD data is not available for download or for batch queries in the Table Browser. +However, it is available for programmatic access via the Global +Alliance Beacon API, a web service that accepts queries in the form +(genome, chromosome, position, allele) and returns "true" or "false" depending on whether there +is information about this allele in the database. For more details see our +Beacon Server.
+To find all LOVD databases that contain variants of a given gene, you can get a list of databases by constructing a url in the format geneSymbol.lovd.nl, for example, tp53.lovd.nl. You can then use the LOVD API to retrieve more detailed information from a particular database. See the LOVD FAQ. +
++Genomic locations of LOVD variation entries are labeled with the gene symbol +and the description of the mutation according to Human Gene Variation Society +standards. For instance, the label AGRN:c.172G>A means that the cDNA of AGRN is +mutated from G to A at position 172. +
+ ++Since October 2017, the functional effect for variants is shown on the +details page, if annotated. The possible +values are: notClassified, functionAffected, notThisDisease, notAnyDisease, +functionProbablyAffected, functionProbablyNotAffected, functionNotAffected +unknown. LOVD does not use the term "pathogenic", please see the HGVS Terminology page for more details. +
+ ++All other information is shown on the respective LOVD variation page, accessible via the +"Link to LOVD" above. +
+ ++The mappings displayed in this track were provided by LOVD. +
+ ++Thanks to the LOVD team, Ivo Fokkema, Peter Taschner, Johan den Dunnen, and all LOVD curators who gave permission to +show their data. +
+ ++Fokkema IF, Taschner PE, Schaafsma GC, Celli J, Laros JF, den Dunnen JT. + +LOVD v.2.0: the next generation in gene variant databases. +Hum Mutat. 2011 May;32(5):557-63. +PMID: 21520333 +