{"name":"dbSNP","description":"Database of single nucleotide polymorphism (dbSNP) contains human single nucleotide variations, microsatellites, and small-scale insertions and deletions along with publication, population frequency, molecular consequence, and genomic and RefSeq mapping information for both common variations and clinical mutations.","homepage":"http://www.ncbi.nlm.nih.gov/SNP/","biotoolsID":"dbsnp","biotoolsCURIE":"biotools:dbsnp","version":[],"otherID":[{"value":"RRID:SCR_002338","type":"rrid","version":null}],"relation":[],"function":[{"operation":[{"uri":"http://edamontology.org/operation_2421","term":"Database search"},{"uri":"http://edamontology.org/operation_3661","term":"SNP annotation"},{"uri":"http://edamontology.org/operation_3197","term":"Genetic variation analysis"}],"input":[{"data":{"uri":"http://edamontology.org/data_1106","term":"dbSNP ID"},"format":[]}],"output":[{"data":{"uri":"http://edamontology.org/data_3498","term":"Sequence variations"},"format":[{"uri":"http://edamontology.org/format_2331","term":"HTML"}]}],"note":null,"cmd":null}],"toolType":["Web application","Database portal"],"topic":[{"uri":"http://edamontology.org/topic_2885","term":"DNA polymorphism"},{"uri":"http://edamontology.org/topic_3574","term":"Human genetics"},{"uri":"http://edamontology.org/topic_0080","term":"Sequence analysis"},{"uri":"http://edamontology.org/topic_3325","term":"Rare diseases"}],"operatingSystem":["Linux","Windows","Mac"],"language":[],"license":null,"collectionID":["RD-connect","Rare Disease","DRCAT"],"maturity":"Mature","cost":"Free of charge","accessibility":"Open access","elixirPlatform":[],"elixirNode":[],"elixirCommunity":[],"link":[],"download":[],"documentation":[],"publication":[{"doi":"10.1093/nar/29.1.308","pmid":null,"pmcid":null,"type":["Primary"],"version":null,"note":null,"metadata":{"title":"DbSNP: The NCBI database of genetic variation","abstract":"In response to a need for a general catalog of genome variation to address the large-scale sampling designs required by association studies, gene mapping and evolutionary biology, the National Center for Biotechnology Information (NCBI) has established the dbSNP database [S.T. Sherry, M.Ward and K.Sirotkin (1999) Genome Res., 9, 677-679]. Submissions to dbSNP will be integrated with other sources of information at NCBI such as GenBank, PubMed, LocusLink and the Human Genome Project data. The complete contents of dbSNP are available to the public at website: http://www.ncbi.nlm.nih.gov/SNP. The complete contents of dbSNP can also be down-loaded in multiple formats via anonymous FTP at ftp:// ncbi.nlm.nih.gov/snp/.","date":"2001-01-01T00:00:00Z","citationCount":4131,"authors":[{"name":"Sherry S.T."},{"name":"Ward M.-H."},{"name":"Kholodov M."},{"name":"Baker J."},{"name":"Phan L."},{"name":"Smigielski E.M."},{"name":"Sirotkin K."}],"journal":"Nucleic Acids Research"}}],"credit":[{"name":"NCBI","email":null,"url":null,"orcidid":null,"gridid":null,"rorid":null,"fundrefid":null,"typeEntity":"Institute","typeRole":["Provider"],"note":null},{"name":"DRCAT","email":null,"url":null,"orcidid":null,"gridid":null,"rorid":null,"fundrefid":null,"typeEntity":"Project","typeRole":["Documentor"],"note":null},{"name":null,"email":"snp-admin@ncbi.nlm.nih.gov","url":null,"orcidid":null,"gridid":null,"rorid":null,"fundrefid":null,"typeEntity":"Person","typeRole":["Primary contact"],"note":null}],"owner":"lonphan","additionDate":"2015-09-11T23:10:00Z","lastUpdate":"2021-04-17T18:28:25Z","editPermission":{"type":"group","authors":["ELIXIR-EE"]},"validated":1,"homepage_status":0,"elixir_badge":0,"confidence_flag":null}