dbSNP: the NCBI database of genetic variation

Abstract

In response to a need for a general catalog of genome variation to address the large-scale sampling designs required by association studies, gene mapping and evolutionary biology, the National Center for Biotechnology Information (NCBI) has established the dbSNP database [S.T.Sherry, M.Ward and K. Sirotkin (1999) Genome Res., 9, 677-679]. Submissions to dbSNP will be integrated with other sources of information at NCBI such as GenBank, PubMed, LocusLink and the Human Genome Project data. The complete contents of dbSNP are available to the public at website: http://www.ncbi.nlm.nih.gov/SNP. The complete contents of dbSNP can also be downloaded in multiple formats via anonymous FTP at ftp://ncbi.nlm.nih.gov/snp/.

Figure 1

Records in dbSNP are cross-annotated within other internal information resources such as PubMed, genome project sequences, GenBank records, the LocusLink nomenclature/sequence database and the dbSTS database of sequence tagged sites. Users may query dbSNP directly, or start a search in any part of the NCBI discovery space to construct a set of dbSNP records that satisfy their search conditions. Records are also integrated with external information resources through hypertext URLs that dbSNP users can follow to explore the detailed information that is beyond the scope of dbSNP curation.

Figure 2

Annotation of the multiple biochemical or phenotypic consequences of individual variations in genomic sequence is accomplished through (i) the annotation of a single dbSNP record on the genome sequence to indicate the presence and extent of variation, and (ii) the maintenance of a list of accession links and URLs within the dbSNP record to other information resources. In this way a single variation can be easily represented in multiple biochemical pathways or phenotypic backgrounds.