dbsnp the ncbi database of genetic variation.pptVIP

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 /SNP Composition of SNP database A Link to other resources 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 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 * 0.001 Microsatellite repeats 0.02 Invariant regions of sequence 0.21 insertion/deletion 99.7 Single nucleotide substitutions % composition Type of variation Scope: Disease-causing mutations Neutral polymorphisms Sequence info around polymorphism Experimental conditions Population description Frequency 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 * Major contributors to the database are laboratories associated with the? National Human Genome Research Institute (NHGRI) grants program * A total of only 5 species and 1.5 million submissions were present in 2001, at time of publishing *