RELEASE: NCBI dbSNP Build 134 for human dbSNP Build 134 for human (txid 9606) =================================== This release is based on Genome Reference Consortium (GRC) assembly GRCh37.p2, which is a patch release of GRCh37 that has minor changes described in a README document(http://bit.ly/mQjIii). dbSNP build 134 includes new submissions from the 1000 Genomes Project interim phase I release(dbSNP Handle: 1000Genomes)and the NHLBI Exome Sequencing Project (dbSNP handle: NHLBI-ESP). handle ss_cnt rs_cnt ------- ------- ------- 1000GENOMES* 15893853 14877247 NHLBI-ESP 526799 526799 Build 134 added 18 new organisms [6,038,585 submissions(ss#)]to dbSNP. Overall, with these new organisms included, build 134 added 108,182,122 new ss# to dbSNP representing a total of 86 organisms. Component availability dates: Component Date available dbSNP web query August 15, 2011 BLAST databases August 22, 2011 (estimated) FTP data August 22, 2011 (estimated) Entrez indexing August 22, 2011 (estimated) * All formats and conventions are described in ftp.ncbi.nih.gov/snp/00readme.txt. Please note that the README document is updated only periodically. * The complete data for build 134 will be available in multiple formats sorted by organism at ftp://ftp.ncbi.nih.gov/snp/organisms/ * The complete build summary for 134 is available at: www.ncbi.nlm.nih.gov/SNP/snp_summary.cgi Recent updates and new features: 1) dbSNP logo change (http://www.ncbi.nlm.nih.gov/projects/SNP/) As there has been confusion about the types of variations dbSNP actually contains, the dbSNP logo text was changed from "Single Nucleotide Polymorphism" to "Short Genetic Variations". We hope that this change will reflect the wide range of dbSNP's variation content, and thereby prevent any future misunderstandings. In spite of its name, dbSNP is not limited to single nucleotide polymorphisms (SNPs), but stores information about multiple small-scale variations that include insertions/deletions, microsatellites, and non-polymorphic variants. dbSNP also stores common and rare variations along with their genotypes and allele frequencies. Most importantly, dbSNP includes clinically significant variations, and should NOT be assumed to hold only benign polymorphisms. 2) New refSNP Attributes dbSNP has added new attributes that allow searching and filtering of human variation by clinical significance, allele origin, minor allele frequency, and suspected false SNPs. See http://www.ncbi.nlm.nih.gov/projects/SNP/docs/rs_attributes.html for more information and examples of the changes these filters have on RefSNP pages. 3) New dbSNP News Web Feed A new RSS feed for brief announcements that highlight recent enhancements and changes to the dbSNP database is now available at: http://www.ncbi.nlm.nih.gov/feed/rss.cgi?ChanKey=dbsnpnews 4) Gene ID added to VCF (Variant Call Format) for human Data in the Variant Call Format is available on the dbSNP ftp site: ftp://ftp.ncbi.nih.gov/snp/organisms/human_9606/VCF For more information see: ftp://ftp.ncbi.nih.gov/snp/organisms/human_9606/VCF/v4.0/000-README.txt and http://www.1000genomes.org/node/101 dbSNP Production Team August 15, 2011 National Center for Biotechnology Information (NCBI) National Library of Medicine, National Institutes of Health, Bethesda, MD, USA.