HGVD: Human Genetic Variation Database
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| Database maintenance site: | Kyoto University (Link to J-Global) |
| Country/Region: | Japan |
| Database description: | 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) covered: | |
| Tag - Target: | Genome/Gene, Genetic variation, Health/Disease |
| Tag - Information type: | Sequence |
| Reference(s) - PubMed ID/DOI: | - |
| Language(s): | English |
| Operational status: | Active |
| Link(s) to Downloadable data: | http://www.genome.med.kyoto-u.ac.jp/SnpDB/download.html |
| Link(s) to Metadata of downloadable data: | - |
| Link(s) to Terms of use: | 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 | - |
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Link to LSDB Archive:
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Link to MEDALS Database list:
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Link to TogoTV:
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Link to FAIRsharing:
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Similar databases:
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VDJbase DBASS Cancer Genome Mine DPV GDBS (Archive) euL1db, the European database of L1-HS retrotransposon insertions in humans iJGVD iDog ostogenesis imperfecta & Ehlers-Danlos syndrome variant databases Catalogue of Transmission Genetics in Arabs |
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Record maintainer
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Integbio Database Catalog |
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Record source:
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Date of creation of this record:
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2014-05-07 |
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Last update date of this record:
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2014-05-01 |
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Record license:
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Creative Commons CC0 license |
