Go to the abstract in the NAR 2001 Database Issue.
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Contact sherry@ncbi.nlm.nih.gov
The NCBI dbSNP database of genome variation complements GenBank by providing the resources to build comprehensive catalogs of common genomic variations in humans and other organisms. Currently dbSNP has nearly 3 million submissions for human variations clustered into 1.6 million unique, variable positions in the human genome. Author-driven submissions of flanking sequence, alleles, population-specific allele frequencies, individual genotypes, validation status and haplotype configurations are clustered into a non-redundant set of markers and integrated with three public genome assemblies and internal NCBI resources such as LocusLink, GenBank, UniGene and PubMed. The complete contents of dbSNP are freely available via anonymous FTP in a variety of useful formats at ftp://ncbi.nlm.nih.gov/snp/
The SNP research community is currently validating 300,000 submissions by measuring allele frequencies in one or more reference population samples. dbSNP has introduced online batch query services, a structured XML report for refSNP clusters, and haplotype submissions for defining unique alleles at the chromosome fragment level.
Category Mutation Databases
Go to the abstract in the NAR 2001 Database Issue.