NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.
This publication is provided for historical reference only and the information may be out of date.
This book contains actual questions asked by dbSNP and dbMHC users. We have tried to compile questions and answers that are representative of the entire spectrum of questions that our users ask, regardless of whether or not they are frequently asked. It is therefore likely that the question you have now, or a variant of it, may have been asked before, and may be in this book. The book will be updated with new questions regularly.
The questions and their answers have been edited for clarity and to protect the privacy of our users.
If you have a question about the SNP FAQ archive, or have a question you would like to see included in the archive, please contact vog.hin.mln.ibcn@nimda-pns
Contents
- dbSNP Submission Quick StartCreated: April 6, 2007; Last Update: February 24, 2014.
- Beginning the Submission ProcessCreated: April 6, 2007; Last Update: February 24, 2014.
- Choosing a Submission FormatCreated: April 6, 2007; Last Update: February 24, 2014.
- VCF SubmissionsCreated: April 6, 2007; Last Update: February 24, 2014.
- Flat File SubmissionsCreated: April 6, 2007; Last Update: February 24, 2014.
- Submitting Data and Submission ProcessingCreated: April 6, 2007; Last Update: February 24, 2014.
- Beginning the Submission Process
- Searching dbSNP for Variations and Variation DataCreated: July 7, 2005; Last Update: February 25, 2014.
- General dbSNP Search OptionsCreated: July 7, 2005; Last Update: February 25, 2014.
- Locating and Analyzing SNPs Associated with Disease Causing MutationsCreated: July 7, 2005; Last Update: February 25, 2014.
- Locating SNPs in a Gene or in GenesCreated: July 7, 2005; Last Update: February 25, 2014.
- Locating SNPs in a Specific Gene
- Locating SNPs in a Gene in a Graphical Format
- Locating a SNP in a Gene Using a Gene Name
- Locating SNPs in a Named Gene
- Locating a Specific Variation Type in a Named Gene
- Locating a SNP in a Gene using an Amino Acid Variation
- Locating SNPs in Specific Regions within a Gene
- Locating SNPs in Multiple Copy Genes
- Locating SNPs in Genes from a Specific Population
- Locating Genes that Contain a Large Number of SNPs
- Locating SNP Information for a Large Number of Genes
- Locating SNPs in Promoters
- Locating SNPs in Exons/Introns
- Locating Exon Start/End positions
- Locating SNPs in Stop Codons
- Locating SNPs in Intergenic Regions
- Locating SNPs in (a) Chromosome(s)Created: July 7, 2005; Last Update: February 25, 2014.
- Finding SNPs in Specific Chromosome Regions
- Finding SNPs using a Map of a Specific Chromosome Region
- Finding SNPs that hit in Multiple Locations
- Finding a Report Containing Chromosome/Physical Positions for each rs
- Using Entrez to Find SNPs in a Chromosome
- Using a List of refSNP(rs) Numbers to get a List of Chromosome Positions
- Finding Chromosomal Coordinates for a SNP
- Finding Chromosome Positions of Microsatellite Markers
- Identification of Y Chromosome Specific SNPs
- Locating ENCODE (Encyclopedia Of DNA Elements) Project SNPsCreated: July 7, 2005; Last Update: February 25, 2014.
- Locating SNPs in a Protein FamilyCreated: July 7, 2005; Last Update: February 25, 2014.
- Searching for SNP Primer SequencesCreated: July 7, 2005; Last Update: February 25, 2014.
- Searching for SNPs in a NCBI Genome Build and in BAC ClonesCreated: July 7, 2005; Last Update: February 25, 2014.
- Searching for a Class of Variations in dbSNPCreated: July 7, 2005; Last Update: February 25, 2014.
- Searching for SNPs or Specific SNP Data Using a Specific IDCreated: July 7, 2005; Last Update: February 25, 2014.
- Locating SNPs using Affymetrix IDs
- Locating SNPs using Celera IDs
- Locating SNPs using HGVS Recommended Nomenclature
- Locating SNPs using Seattle SNPs IDs
- Locating SNPs using STS IDs
- Locating SNPs using PubMed ID
- Locating SNPs using CGAP IDs
- Locating SNPs using BAC Clone IDs
- Locating Specific Data Using RefSNP(rs) or Submitted SNP(ss) ID
- Locating SNPs using IDs Published in the Literature
- Using SNP IDs to Find Genbank Accessions, and Vice VersaCreated: July 7, 2005; Last Update: February 25, 2014.
- Searching for SNPs Using Key Words, Names (Gene, Author, etc.), or CitationsCreated: July 7, 2005; Last Update: February 25, 2014.
- Searching for SNPs Using Positional Data or EST AlignmentsCreated: July 7, 2005; Last Update: February 25, 2014.
- Retrieving Specific Data for a SNPCreated: July 7, 2005; Last Update: February 25, 2014.
- Finding Contact Information for an Individual Submitter
- Finding out which SNPs are Repeated and which have Multiple Submissions
- Finding SNP Citations (SNP Publication Details)
- Finding a Gene Name associated with a refSNP (rs) number
- Finding Gene IDs associated with a refSNP (rs) number
- Finding the Genetic Position of a SNP
- Finding Strain Information for Submitted SNPs
- Finding CpG Island Data
- Finding Flanking Sequence Data
- Finding SNPs that Lead to Premature Stop Codons
- Finding Proximal (Neighboring) SNPs
- Finding Wildtype Amino Acid
- Finding Functional (Synonymous/Non-synonymous, etc.) Information for a SNP
- Finding Hardy Weinburg Probabilities
- Finding Hap-Tagged SNPs
- Finding Specific Hetrerozygosity Data
- Finding Orientation Data
- Finding Organism Ploidy
- Finding Records with OMIM Data/Links
- Finding Reference Alleles
- Finding Records for a Race or Specific Population
- Finding Sample Size Data
- Finding Tab-Delimited Reports
- Finding Validation Data
- Finding out why a SNP has been Withdrawn
- Searching for SNP Genotype, Allele and Frequency DataCreated: July 7, 2005; Last Update: February 25, 2014.
- Batch Query: Retrieving information for a large numbers of SNPsCreated: July 7, 2005; Last Update: February 25, 2014.
- Searching dbSNP using Sequence Data Homology (Search using BLAST)Created: July 7, 2005; Last Update: February 25, 2014.
- Searching for SNPs in Raw Sequence DataCreated: July 7, 2005; Last Update: February 25, 2014.
- Searching for SNPs between Mouse StrainsCreated: July 7, 2005; Last Update: February 25, 2014.
- Searching for Statistics, Data Histories and Historical Data in dbSNPCreated: July 7, 2005; Last Update: February 25, 2014.
- Searching for Structural (Copy Number) VariationsCreated: July 7, 2005; Last Update: February 25, 2014.
- eSearch (Programmatic Searches)Created: July 7, 2005; Last Update: February 25, 2014.
- Search Result DiscrepanciesCreated: July 7, 2005; Last Update: February 25, 2014.
- Errors that Occur While SearchingCreated: July 7, 2005; Last Update: February 25, 2014.
- Unable to Find Published SNP in dbSNPCreated: July 7, 2005; Last Update: February 25, 2014.
- General dbSNP Search Options
- Submitting Variations and Variation Data to dbSNPCreated: June 6, 2005; Last Update: June 15, 2010.
- Submission HandlesCreated: June 6, 2005; Last Update: June 15, 2010.
- Requirements for dbSNP SubmissionsCreated: June 6, 2005; Last Update: June 15, 2010.
- Organism Data Accepted by dbSNPCreated: June 6, 2005; Last Update: June 15, 2010.
- Submitting Various Data Types to dbSNPCreated: June 6, 2005; Last Update: June 15, 2010.
- The dbSNP Excel Submission TemplateCreated: June 6, 2005; Last Update: June 15, 2010.
- Filling out the Submission WorksheetsCreated: June 6, 2005; Last Update: June 15, 2010.
- Filling out Specific Sections/Fields within a Submission WorksheetCreated: June 6, 2005; Last Update: June 15, 2010.
- Submission FormattingCreated: June 6, 2005; Last Update: June 15, 2010.
- Automating the Submission ProcessCreated: June 6, 2005; Last Update: June 15, 2010.
- Submitting Information for Existing SNPsCreated: June 6, 2005; Last Update: June 15, 2010.
- Batch Submissions and Large Submissions to dbSNPCreated: June 6, 2005; Last Update: June 15, 2010.
- Submitting SNPs using a Reference Sequence PositionCreated: June 6, 2005; Last Update: June 15, 2010.
- Submission and Assignment of Submitted SNP(ss)/RefSNP(rs) NumbersCreated: June 6, 2005; Last Update: June 15, 2010.
- dbSNP Submission Processing and the “Hold Until Published” (HUP) PolicyCreated: June 6, 2005; Last Update: June 15, 2010.
- Submission Errors and Submission WithdrawalCreated: June 6, 2005; Last Update: June 15, 2010.
- Submission Using dbSNP’s online Clinical/LSDB Submission ResourcesCreated: June 6, 2005; Last Update: June 15, 2010.
- External Submission ToolsCreated: June 6, 2005; Last Update: June 15, 2010.
- Submission Handles
- Using dbSNP Data ReportsCreated: July 7, 2005; Last Update: February 18, 2014.
- Entrez SNP and Entrez Gene Response PagesCreated: July 7, 2005; Last Update: February 18, 2014.
- Choosing the Data Report that Contains the Data You NeedCreated: July 7, 2005; Last Update: February 18, 2014.
- Finding Information in a dbSNP Data ReportCreated: July 7, 2005; Last Update: February 18, 2014.
- Compact SNP data: The BitfieldCreated: July 7, 2005; Last Update: February 18, 2014.
- Custom Report FormatsCreated: July 7, 2005; Last Update: February 18, 2014.
- Interpreting Discrepancies in refSNP ReportsCreated: July 7, 2005; Last Update: February 18, 2014.
- Interpreting Discrepancies in Submitted SNP (ss) Detail ReportsCreated: July 7, 2005; Last Update: February 18, 2014.
- Discrepancies between Cluster Report Data and FTP ContentCreated: July 7, 2005; Last Update: February 18, 2014.
- Discrepancies between Cluster Report data and Other Genome ResourcesCreated: July 7, 2005; Last Update: February 18, 2014.
- Field DefinitionsCreated: July 7, 2005; Last Update: February 18, 2014.
- SNP Class DefinitionsCreated: July 7, 2005; Last Update: February 18, 2014.
- Sequence Formatting in dbSNP ReportsCreated: July 7, 2005; Last Update: February 18, 2014.
- Batch ReportsCreated: July 7, 2005; Last Update: February 18, 2014.
- Displaying ReportsCreated: July 7, 2005; Last Update: February 18, 2014.
- Links from dbSNP Reports to Other Online Data ResourcesCreated: July 7, 2005; Last Update: February 18, 2014.
- Links from Other Online Data Resources to dbSNP ReportsCreated: July 7, 2005; Last Update: February 18, 2014.
- Creating Your Own Link to a dbSNP RecordCreated: July 7, 2005; Last Update: February 18, 2014.
- Error Messages in refSNP Cluster ReportsCreated: July 7, 2005; Last Update: February 18, 2014.
- Entrez SNP and Entrez Gene Response Pages
- The dbSNP Build ProcessCreated: July 7, 2005; Last Update: February 18, 2014.
- What Triggers a New Build?Created: July 7, 2005; Last Update: February 18, 2014.
- The SNP Build Schedule/Notification of Build ReleaseCreated: July 7, 2005; Last Update: February 18, 2014.
- Data Changes that Occur Between BuildsCreated: July 7, 2005; Last Update: February 18, 2014.
- Lag Time between dbSNP Website and FTP Site Following BuildCreated: July 7, 2005; Last Update: February 18, 2014.
- The Difference Between the SNP Build and the Genome BuildCreated: July 7, 2005; Last Update: February 18, 2014.
- Using Old vs. New Build DataCreated: July 7, 2005; Last Update: February 18, 2014.
- Finding Old Build DataCreated: July 7, 2005; Last Update: February 18, 2014.
- Finding a Build Number Based on a Date and Vice VersaCreated: July 7, 2005; Last Update: February 18, 2014.
- The dbSNP Mapping ProcessCreated: July 7, 2005; Last Update: February 18, 2014.
- Mapping Weight
- How dbSNP Determines SNP Positions
- Chromosome Position and Contig Position
- Locate Disappearing RefSNP (rs) Numbers
- RefSNP (rs) Clusters Not Merging as Expected
- Definition of loctype values
- Reassigning loctype
- Forward vs. Reverse strand Orientation
- Sequence Notation for Variations
- Position Notation for Variations
- Mapping Discrepancies
- Merging RefSNP Numbers and RefSNP ClustersCreated: July 7, 2005; Last Update: February 18, 2014.
- Ancestral Allele DataCreated: July 7, 2005; Last Update: February 18, 2014.
- Average Allele Frequency CalculationCreated: July 7, 2005; Last Update: February 18, 2014.
- Double Hit SNP ComputationCreated: July 7, 2005; Last Update: February 18, 2014.
- Hardy Weinberg Equilibrium DataCreated: July 7, 2005; Last Update: February 18, 2014.
- Heterozygosity DataCreated: July 7, 2005; Last Update: February 18, 2014.
- Linkage Disequilibrium DataCreated: July 7, 2005; Last Update: February 18, 2014.
- dbSNP Haplotype DataCreated: July 7, 2005; Last Update: February 18, 2014.
- dbSNP and Haplogroup DataCreated: July 7, 2005; Last Update: February 18, 2014.
- dbSNP and Haplotype Tagged SNPsCreated: July 7, 2005; Last Update: February 18, 2014.
- dbSNP and HapMap DataCreated: July 7, 2005; Last Update: February 18, 2014.
- What Triggers a New Build?
- Locating and Using Data from dbSNP’s FTP SiteCreated: July 7, 2005; Last Update: February 18, 2014.
- Finding Specific Data in dbSNP’s FTP FilesCreated: July 7, 2005; Last Update: February 18, 2014.
- Finding Functional Class Data
- Finding Population Diversity Data
- Finding IDs
- Finding Mapping Data
- Finding Sequence Data in CSV Format
- Finding Microarray Data
- Finding Merged RefSNP (rs) Data
- Finding Deleted (no longer used) refSNP Numbers
- Finding Method Data
- Finding SNP data for NCBI Genome Builds
- Finding Submitter Data
- Finding Submitter Referenced Genbank Accessions
- Finding Validation Data
- Finding Variation Class Data
- Finding SNPs for a Specific Organism
- SNP Report FilesCreated: July 7, 2005; Last Update: February 18, 2014.
- dbSNP Data DictionaryCreated: July 7, 2005; Last Update: February 18, 2014.
- Missing FTP FilesCreated: July 7, 2005; Last Update: February 18, 2014.
- Downloading From dbSNP’s FTP SiteCreated: July 7, 2005; Last Update: February 18, 2014.
- Decompressing Data Obtained from dbSNP’s FTP SiteCreated: July 7, 2005; Last Update: February 18, 2014.
- Parsing Data Obtained from dbSNP’s FTP SiteCreated: July 7, 2005; Last Update: February 18, 2014.
- Discrepancies between dbSNP Summary Data and FTP DataCreated: July 7, 2005; Last Update: February 18, 2014.
- Discrepancies between Cluster Report Data and FTP Data ContentsCreated: July 7, 2005; Last Update: February 18, 2014.
- Discrepancies between FTP Documentation and Data DictionaryCreated: July 7, 2005; Last Update: February 18, 2014.
- Direct Queries of dbSNP’s Database ServerCreated: July 7, 2005; Last Update: February 18, 2014.
- Updating dbSNP’s FTP dataCreated: July 7, 2005; Last Update: February 18, 2014.
- Eutils (E-utilities)Created: July 7, 2005; Last Update: February 18, 2014.
- Finding Specific Data in dbSNP’s FTP Files
- dbSNP Organization and Structure (Schema)Created: August 8, 2005; Last Update: June 15, 2010.
- Locating Schema Tables that Contain Specific SNP DataCreated: August 8, 2005; Last Update: June 15, 2010.
- SchemaTable Definitions/LocationsCreated: August 8, 2005; Last Update: June 15, 2010.
- Field DefinitionsCreated: August 8, 2005; Last Update: June 15, 2010.
- Schema Changes and UpdatesCreated: August 8, 2005; Last Update: June 15, 2010.
- dbSNP Build Updates and Schema ChangesCreated: August 8, 2005; Last Update: June 15, 2010.
- Downloading Specific Schema TablesCreated: August 8, 2005; Last Update: June 15, 2010.
- How does dbSNP draw the Schema TablesCreated: August 8, 2005; Last Update: June 15, 2010.
- Local Copies of dbSNPCreated: August 8, 2005; Last Update: June 15, 2010.
- Direct Dumps of dbSNP
- Creating a Local Copy of dbSNP for the Beginner
- Creating a Local Copy of dbSNP in Various Database Systems
- Creating a Local Copy on Linux
- Creating a Local Copy that Contains Specific SNP Data
- Creating a Local Copy that has Specific Applications
- Keeping Local Copies Updated
- Problems Downloading Data for Local Copies
- Using SQL to Extract Data
- The NSE Tables
- Searching Local Copies of dbSNP
- Discrepancies between a Local Copy Search and a Web-based Search
- Discrepancies between the Data Dictionary and FTP Documentation
- Locating Schema Tables that Contain Specific SNP Data
- dbSNP Data Content InformationCreated: July 23, 2005; Last Update: February 18, 2014.
- dbSNP Data OriginsCreated: July 23, 2005; Last Update: February 18, 2014.
- dbSNP Data Quality ControlCreated: July 23, 2005; Last Update: February 18, 2014.
- dbSNP Data StatisticsCreated: July 23, 2005; Last Update: February 18, 2014.
- dbSNP Data Storage InformationCreated: July 23, 2005; Last Update: February 18, 2014.
- Classes of Genetic Variation Included in dbSNPCreated: July 23, 2005; Last Update: February 18, 2014.
- Size of Genetic Variations Included in dbSNPCreated: July 23, 2005; Last Update: February 18, 2014.
- Sequence Notation for SNPs Housed in dbSNPCreated: July 23, 2005; Last Update: February 18, 2014.
- Submitted SNPs (ss) and Other Data Submitted to dbSNPCreated: July 23, 2005; Last Update: February 18, 2014.
- Clustered RefSNPs (rs) and Other Data Computed in HouseCreated: July 23, 2005; Last Update: February 18, 2014.
- Ancestral Allele DataCreated: July 23, 2005; Last Update: February 18, 2014.
- Association StudiesCreated: July 23, 2005; Last Update: February 18, 2014.
- Ascertainment BiasCreated: July 23, 2005; Last Update: February 18, 2014.
- Automated SNP Collection (Data Mining)Created: July 23, 2005; Last Update: February 18, 2014.
- Average Allele Frequency CalculationCreated: July 23, 2005; Last Update: February 18, 2014.
- Double Hit SNP ComputationCreated: July 23, 2005; Last Update: February 18, 2014.
- Hardy Weinberg Equilibrium DataCreated: July 23, 2005; Last Update: February 18, 2014.
- Heterozygosity DataCreated: July 23, 2005; Last Update: February 18, 2014.
- Linkage Disequilibrium DataCreated: July 23, 2005; Last Update: February 18, 2014.
- ReferencesCreated: July 23, 2005; Last Update: February 18, 2014.
- dbSNP Data Origins
- Citing dbSNPCreated: July 7, 2005; Last Update: June 15, 2010.
- Citing dbSNP in a PublicationCreated: July 7, 2005; Last Update: June 15, 2010.
- dbSNP Creation Date InformationCreated: July 7, 2005; Last Update: June 15, 2010.
- dbSNP Database StatisticsCreated: July 7, 2005; Last Update: June 15, 2010.
- Using dbSNP data in a Locally Created Public Search EngineCreated: July 7, 2005; Last Update: June 15, 2010.
- Using Images from NCBI SitesCreated: July 7, 2005; Last Update: June 15, 2010.
- Citing dbSNP in a Publication
- General Information about dbSNP, Single Nucleotide Polymorphisims, and Genetics
- Human Variation Batch Submission Quick StartCreated: April 9, 2008; Last Update: June 15, 2010.
- Data Types Accepted in a Variation Batch SubmissionCreated: April 9, 2008; Last Update: June 15, 2010.
- Beginning the Submission ProcessCreated: April 9, 2008; Last Update: June 15, 2010.
- Using the Excel Submission Template to create your Batch SubmissionCreated: April 9, 2008; Last Update: June 15, 2010.
- Submitting DataCreated: April 9, 2008; Last Update: June 15, 2010.
- Submission ProcessingCreated: April 9, 2008; Last Update: June 15, 2010.
- Variation ID AssignmentCreated: April 9, 2008; Last Update: June 15, 2010.
- Hold Until Published (HUP) PolicyCreated: April 9, 2008; Last Update: June 15, 2010.
- How do I Update Data I’ve already Submitted?Created: April 9, 2008; Last Update: June 15, 2010.
- How do I find my variations after submission, but before rs number assignment?Created: April 9, 2008; Last Update: June 15, 2010.
- Data Types Accepted in a Variation Batch Submission
- Genome Workbench SNP Tools (GST) Quick StartCreated: April 23, 2008; Last Update: June 15, 2010.
- GST DefinedCreated: April 23, 2008; Last Update: June 15, 2010.
- GST FeaturesCreated: April 23, 2008; Last Update: June 15, 2010.
- Using GST for the First TimeCreated: April 23, 2008; Last Update: June 15, 2010.
- Using Specific GST FeaturesCreated: April 23, 2008; Last Update: June 15, 2010.
- Using GST to Study Genome Wide Association (GWAS) DataCreated: April 23, 2008; Last Update: June 15, 2010.
- GST Defined