dbSNP: the NCBI database of genetic variation S. T. Sherry, M.H. Ward, M. Kholodov, J. Baker, L. Phan, E. M. Smigielski and K. Sirotkin, Nucleic Acids Research, 29:1, 2001 National Center for Biotechnology Information, National Library of Medicine, National Institute of Health

Composition of SNP database Type of variation % composition Single nucleotide substitutions 99.7 insertion/deletion0.21 Invariant regions of sequence 0.02 Microsatellite repeats Scope: Disease-causing mutations Neutral polymorphisms Sequence info around polymorphism Experimental conditions Population description Frequency

A Link to other resources Provides information for searches that start in other resources LinkOut URLs are external databases that extend beyond NCBI Phenotypic results are available through external databases

Submission Required info: −Contact information of submitter −Alleles at locus −Flanking sequence surrounding polymorphism −Experimental methods −GenBank record −Population sample and source organism −Frequency data * Major contributors to the database are laboratories associated with the National Human Genome Research Institute (NHGRI) grants program

After Submission −ss#: dbSNP accessioning to each submitted variation −rs#: Unique variation in an organism reference genome

Searching the database NCBI resources Gene name Map location BLAST dbSNP Accession number Submitter name Local batch ID Method of identification Population type Publication title Chromosome report

Brief summary of Scale 24 different species have SNP data, including, H. sapiens, A. gambiae, C. elegans, P. falciparum, Z. mays 13 million submissions for H. sapiens 1.4 million in A. gambiae 2.8 millions new submission for H. sapiens * A total of only 5 species and 1.5 million submissions were present in 2001, at time of publishing