Human Variation Databases

Individual variations in genomic sequence are useful reagents in physical mapping, linkage analysis and the functional study of individual genes. Several public databases exist as comprehensive or specialized resources to organize these data for sequence annotation and research.

Keywords: single nucleotide polymorphism; microsatellite; genetic variation; haplotype, genome diversity

 Web Links
    ePath ALFRED. A prototype project by the Kidd lab at Yale University to document allele frequencies in a broad, anthropological collection of human populations http://alfred.med.yale.edu/
    ePath dbSNP. The NCBI dbSNP database of genetic variation is currently the largest public database of sequence polymorphisms http://www.ncbi.nlm.nih.gov/SNP/
    ePath Ensembl. A software system which produces and maintains automatic annotation on eukaryotic genomes http://www.ensembl.org/
    ePath Ethnologue. A database of the world's languages. http://www.ethnologue.com/ http://www.ncbi.nlm.nih.gov/SNP/handle.html
    ePath Genome UCSC Browser. A data visualization tool provided by the University of California Santa Cruz to see features of genome sequence http://genome.ucsc.edu/cgi-bin/hgGateway?org=human
    ePath HGVBase. A database developed to support genotype–phenotype association analyses http://hgvbase.cgb.ki.se/
    ePath The HGVBase site also maintains an annotated list of SNP-related databases at http://hgvbase.cgb.ki.se/databases.htm
    ePath JSNP. The Japanese SNP database was developed as part of Japan's Millennium Project to identify up to 150000 sequence variations in gene regions over two years, to make the information related to these SNPs available to the public, and to develop analytical tools for polymorphisms http://snp.ims.u-tokyo.ac.jp/
    ePath NCBI MapViewer. The Map Viewer supports search and display of genomic information by chromosomal position http://www.ncbi.nlm.nih.gov/mapview/map_search.cgi?
    ePath PubMed. A service of the National Library of Medicine, provides access to over 12 million MEDLINE citations back to the mid-1960s and additional life science journals http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=PubMed
    ePath TSC. The SNP Consortium was formed as a nonprofit corporation in 1999 for providing public genomic data http://snp.cshl.org/
    ePath Online Mendelian Inheritance in Man. A textual catalog of human genes and genetic disorders. Web development and support is provided by The National Center for Biotechnology Information (NCBI) at the National Institutes of Health, Bethesda, MD, USA http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=OMIM
    ePath HGVS database index. The Human Genome Variation Society (HGVS) maintains an index of public variation and mutation databases http://www.genomic.unimelb.edu.au/mdi/dblist/dblist.html
    ePath MDI. As the forerunner to the HGVS, the HUGO Mutation Database Initiative (MDI) compiled a table of public mutation and variation databases http://ariel.its.unimelb.edu.au/~cotton/glsdbg.htm
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Sherry, Stephen T(Sep 2005) Human Variation Databases. In: eLS. John Wiley & Sons Ltd, Chichester. http://www.els.net [doi: 10.1038/npg.els.0005249]