Database Record

HGVD: Human Genetic Variation Database
IDNBDC common database IDs, which should be written in parentheses if there are multiple titles, such as Japanese and English. | NBDC01392 |
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Database nameName of the database | HGVD |
Alternative nameAlternative name of the database | Human Genetic Variation Database |
URLURL of the database | http://www.genome.med.kyoto-u.ac.jp/SnpDB/index.html |
Database maintenance siteSite maintaining the database | Kyoto University (Link to J-Global) |
Country/RegionCountry or region name where the database maintenance site is located | Japan |
Database descriptionDatabase descirption | HGVD is a database providing a central resource to archive and display Japanese genetic variation and association between the variation and transcription level of genes. It contains genetic variations determined by exome sequencing of 1,208 individuals and genotyping data of common variations obtained from a cohort of 3,248 individuals. This database includes information such as alleles, genotype frequencies, number of samples, coverages, and expression QTL (eQTL) significances. The HGVD browser allows to search using gene name / ID, rsID of dbSNP, pathogenic variation, or chromosome numbers. |
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 | ― |
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 | http://www.genome.med.kyoto-u.ac.jp/SnpDB/download.html |
Link(s) to MetaData of downloadable dataLinks to metadata of downloadable data | ― |
Link(s) to Terms of useLinks to terms of use of downloadable data | http://www.genome.med.kyoto-u.ac.jp/SnpDB/about.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 | ― |
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 | 2014-05-07 |
Last update date of this recordLast update date of this English record | 2014-05-01 |
Record license | Creative Commons CC0 license |