Database Record
ClinVar
| IDNBDC common database IDs, which should be written in parentheses if there are multiple titles, such as Japanese and English. | NBDC01514 | ||||
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| Database nameName of the database | ClinVar | ||||
| Alternative nameAlternative name of the database | ― | ||||
| URLURL of the database | http://www.ncbi.nlm.nih.gov/clinvar/ | ||||
| Database maintenance siteSite maintaining the database | NCBI (National Center for Biotechnology Information) | ||||
| Country/RegionCountry or region name where the database maintenance site is located | United States | ||||
| Database descriptionDatabase descirption | ClinVar is a freely available archive describing relationships between medically important variants and phenotypes. Submissions report human variation, interpretations of the relationship of that variation to human health, and the evidence supporting each interpretation. ClinVar is tightly coupled with dbSNP and dbVar, which maintain information about locations of variations on human assemblies, and also based on the phenotypic descriptions maintained in MedGen (http://www.ncbi.nlm.nih.gov/medgen). Each record contains the submitter, the variation and the phenotype. Furthermore, to facilitate evaluation of the medical importance of each variant, ClinVar aggregates submissions with the same variation/phenotype combination, adds value from other NCBI databases, and reports if there are conflicting clinical interpretations. Data in ClinVar are available in multiple formats, including html, download as XML, VCF or tab-delimited subsets. | ||||
| Organism(s) coveredNCBI Taxonomy names and IDs covered by the database | Homo sapiens (9606) | ||||
| Tag - TargetTag to indicate targets for this database such as genome and protein |
Genome/Gene
cDNA/EST
Genetic variation
Epigenetics
DNA
RNA
Protein
Carbohydrate
Lipid
Metabolite
Chemical compound
Drug
Cell/Organelle
Organism
Health/Disease
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| Tag - Information typeTag to indicate information types for this database such as sequence and structure |
Phenotype
Bioresource
Method
Ontology/Terminology/Nomenclature
Environment
Sequence
3D structure
Chemical structure
Expression
Localization
Geographic Distribution
Interaction/Pathway
Taxonomy
Classification
Image/Movie
Bibliography/Documents
Portal
Repository
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| Reference(s) - PubMed ID/DOIPubMed IDs/DOI for papers related to the database |
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| Language(s)Languages in which the contents of the database are displayed | English | ||||
| Operational statusOperational status for the database | Active | ||||
| Link(s) to Downloadable dataLinks to downloadable data | ftp://ftp.ncbi.nlm.nih.gov/pub/clinvar/ | ||||
| Link(s) to MetaData of downloadable dataLinks to metadata of downloadable data | ftp://ftp.ncbi.nlm.nih.gov/pub/clinvar/README.txt | ||||
| Link(s) to Terms of useLinks to terms of use of downloadable data | http://www.ncbi.nlm.nih.gov/About/disclaimer.html | ||||
| Link(s) to "How to use" | ― | ||||
| Contact information of database | ― | ||||
| Link(s) to API / SPARQL endpoint | ― | ||||
| Link to LSDB ArchiveLink to LSDB Archive | ― | ||||
| Link to MEDALS Database listLink to MEDALS Database list | ― | ||||
| Link to TogoTVLink to TogoTV | ― | ||||
| Link to FAIRsharingLink to FAIRsharing | https://fairsharing.org/biodbcore-000739 | ||||
| Similar databasesDatabases that are similar to this database. | |||||
| Record maintainerRecord maintainer | Integbio Database Catalog | ||||
| Record sourceOrganization that originally created the record |
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| Date of creation of this recordDate of creation of this English record | 2015-07-21 | ||||
| Last update date of this recordLast update date of this English record | 2022-05-29 | ||||
| Record license | Creative Commons CC0 license |