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DbSNP information


dbSNP
Content
DescriptionSingle Nucleotide Polymorphism Database
OrganismsHomo sapiens
Contact
Research centerNational Center for Biotechnology Information
Primary citationPMID 21097890
Release date1998
Access
Data formatASN.1, Fasta, XML
Websitencbi.nlm.nih.gov/snp/
Download URLftp://ftp.ncbi.nih.gov/snp/
Web service URLEUtils
SOAP

The Single Nucleotide Polymorphism Database[1] (dbSNP) is a free public archive for genetic variation within and across different species developed and hosted by the National Center for Biotechnology Information (NCBI) in collaboration with the National Human Genome Research Institute (NHGRI). Although the name of the database implies a collection of one class of polymorphisms only (i.e., single nucleotide polymorphisms (SNPs)), it in fact contains a range of molecular variation: (1) SNPs, (2) short deletion and insertion polymorphisms (indels/DIPs), (3) microsatellite markers or short tandem repeats (STRs), (4) multinucleotide polymorphisms (MNPs), (5) heterozygous sequences, and (6) named variants.[2] The dbSNP accepts apparently neutral polymorphisms, polymorphisms corresponding to known phenotypes, and regions of no variation. It was created in September 1998 to supplement GenBank, NCBI’s collection of publicly available nucleic acid and protein sequences.[2]

In 2017, NCBI stopped support for all non-human organisms in dbSNP.[3] As of build 153 (released in August 2019), dbSNP had amassed nearly 2 billion submissions representing more than 675 million distinct variants for Homo sapiens.

a) Various sources submit data, and each variation is assigned a unique submitted SNP number ID (ss#). b) dbSNP compiles identical ss# records into one reference SNP cluster (rs#) containing data from each ss#. c) Users can retrieve data for specific rs# records and analyze these variations. d) Data from dbSNP aids clinical and applied research. The ss# and rs# IDs in this figure are examples only. NCBI, National Center for Biotechnology Information; OMIM, Online Mendelian Inheritance in Man; GWAS, genome wide association study.
  1. ^ Wheeler DL, Barrett T, Benson DA, et al. (January 2007). "Database resources of the National Center for Biotechnology Information". Nucleic Acids Res. 35 (Database issue): D5–12. doi:10.1093/nar/gkl1031. PMC 1781113. PMID 17170002.
  2. ^ a b Sherry ST, Ward M; Sirotkin, K. (1999). "dbSNP - database for single nucleotide polymorphisms and other classes of minor genetic variation". Genome Research. 9 (8): 677–679. doi:10.1101/gr.9.8.677. PMID 10447503. S2CID 10775908.
  3. ^ "Phasing out support for non-human genome organism data in dbSNP and dbVar". 2017-05-09. Retrieved 9 July 2017.

and 27 Related for: DbSNP information

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DbSNP

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The Single Nucleotide Polymorphism Database (dbSNP) is a free public archive for genetic variation within and across different species developed and hosted...

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Variant Call Format

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Type=String,Description="Ancestral Allele"> ##INFO=<ID=DB,Number=0,Type=Flag,Description="dbSNP membership, build 129"> ##INFO=<ID=H2,Number=0,Type=Flag...

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Exome sequencing

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(SNPs) in public databases such as dbSNP. More common recessive phenotypes would be more likely to have disease-causing variants reported in dbSNP. For...

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SNP annotation

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annotation (SNP annotation) is the process of predicting the effect or function of an individual SNP using SNP annotation tools. In SNP annotation the...

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Tag SNP

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0090. PMC 3125548. PMID 21348634. dbSNP Data Statistics. National Center for Biotechnology Information (US). 2005. "dbSNP Summary". Tarvo, Alex. "Tutorial...

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SNP array

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known as genomic selection. Crop-specific arrays find use in agriculture. "dbSNP Summary". www.ncbi.nlm.nih.gov. Retrieved 4 October 2017. The 1000 Genomes...

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Allele

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; Sirotkin, Karl; Ward, Minghong; Sherry, Stephen T. (1 January 2000). "dbSNP: a database of single nucleotide polymorphisms". Nucleic Acids Research...

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National Center for Biotechnology Information

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Inheritance in Man, the Molecular Modeling Database (3D protein structures), dbSNP (a database of single-nucleotide polymorphisms), the Reference Sequence...

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Pharmacogenomics

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PMID 23824865.{{cite book}}: CS1 maint: location missing publisher (link) "DBSNP Home Page". National Center for Biotechnology Information, U.S. National...

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P1PK blood group system

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doi:10.1182/blood-2017-08-803080. PMID 29438961. "rs397514502 RefSNP Report - dbSNP - NCBI". www.ncbi.nlm.nih.gov. Duk, Maria; Reinhold, Bruce B; Reinhold...

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Minor allele frequency

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population. 1. Introduce the reference of a SNP of interest, as an example: rs429358, in a database (dbSNP or other). 2. Find MAF/MinorAlleleCount link...

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Linkage disequilibrium

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Ensembl project integrates HapMap data with other genetic information from dbSNP. PLINK – whole genome association analysis toolset, which can calculate...

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Methylenetetrahydrofolate reductase

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doi:10.1038/gim.2012.165. PMID 23288205. S2CID 12461781. "rs1801133". dbSNP. National Library of Medicine. Retrieved 26 April 2023. Schneider JA, Rees...

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Factor V Leiden

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referred to as F5. Mutation of this gene—a single nucleotide polymorphism (SNP) is located in exon 10. As a missense substitution of amino acid R to amino...

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RS

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gastrocardiac symptoms Stomatal resistance (rs), of leaves rs, prefix of a DbSNP record ID number e.g. rs206437 Respiratory syncytial virus, a species of...

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ANNOVAR

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are documented in specific databases. The variants could be obtained from dbSNP, 1000 Genomes Project, or user-supplied list. Additional information could...

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Familial natural short sleep

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ISSN 0036-8075. PMC 2884988. PMID 19679812. "rs121912617 RefSNP Report - dbSNP - NCBI". dbSNP. "rs121912617 - SNPedia". www.snpedia.com. Retrieved 2022-10-14...

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Human skin color

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1371/journal.pone.0042752. PMC 3418284. PMID 22912732. "rs16891982 RefSNP Report - dbSNP - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2022-10-02. Adhikari, Kaustubh...

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Hemoglobinopathy

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Chemistry, Vol. 243, No. 5, Issue of March 10, pages 980–991. "rs33948057". dbSNP. National Center for Biotechnology Information. Retrieved 7 February 2014...

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Human genetic variation

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of base-pairs than the SNPs and indels. As of 2017[update], the Single Nucleotide Polymorphism Database (dbSNP), which lists SNP and other variants, listed...

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Craig Venter

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sequences, the sequence multi-alignment of the HuRef assembly, Ensembl and dbSNP annotations, HuRef variants, and the underlying variant evidence and functional...

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Entrez

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three-dimensional macromolecular structures Taxonomy: organisms in GenBank Taxonomy dbSNP: single nucleotide polymorphism Gene: gene-centered information HomoloGene:...

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Compression of genomic sequencing data

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genomes. The use of a reference single nucleotide polymorphism (SNP) map, such as dbSNP, can be used to further improve the number of variants for storage...

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Gene polymorphism

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rapidly evolving area of drug safety research. Resources such as HapMap, DbSNP,Ensembl, DNA Data Bank of Japan, DrugBank, Kyoto Encyclopedia of Genes and...

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Hemoglobin variants

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980–91. doi:10.1016/S0021-9258(18)93612-4. PMID 5640981. "rs33948057". dbSNP. National Center for Biotechnology Information. Retrieved 7 February 2014...

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International HapMap Project

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were submitted to the public dbSNP database. As a result, by August 2006, the database included more than ten million SNPs, and more than 40% of them were...

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Rs4680

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(Val158Met) is a genetic variant. It is a single nucleotide polymorphism (SNP) in the COMT gene that codes catechol-O-Methyltransferase. The single nucleotide...

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