is a Data Source.
ClinVar is a freely accessible, public archive of reports of human genetic variations and their relationships to human health. It collects and presents data on variants found in patient samples, classifications for diseases and drug responses, and supporting evidence. ClinVar enables access to and communication about the clinical significance of genetic variants, providing healthcare professionals, researchers, and the public with vital information for interpreting genetic test results.
biomedical, genomics, clinical, precision medicine, health, translational
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| ID | Name | URL | Category | Format | Description |
|---|---|---|---|---|---|
| clinvar.xml | ClinVar XML | xml | Product | xml | Complete public data set in XML forma... |
| clinvar.vcf.grch37 | ClinVar VCF (GRCh37) | vcf_GRCh37 | Product | vcf | ClinVar data in VCF format for GRCh37... |
| clinvar.vcf.grch38 | ClinVar VCF (GRCh38) | vcf_GRCh38 | Product | vcf | ClinVar data in VCF format for GRCh38... |
| clinvar.tab | ClinVar Tab-Delimited Files | tab_delimited | Product | tsv | Tab-delimited files summarizing varia... |
| clinvar.api | ClinVar API (E-utilities) | maintenance_use | ProgrammingInterface | http | API access to ClinVar data through NC... |
| clinvar.web | ClinVar Web Interface | clinvar | GraphicalInterface | http | Web interface for searching and brows... |
| ID | Name | URL | Category | Format | Description |
|---|---|---|---|---|---|
| ubkg.neo4j | UBKG Neo4j Docker Distribution | ubkg-downloads.xconsortia.org | GraphProduct | ❔ | Turnkey neo4j distributions that depl... |
| ubkg.csv | UBKG Ontology CSV Files | ubkg-downloads.xconsortia.org | GraphProduct | csv | Ontology CSV files that can be import... |
| disgenet.data | DisGeNET Data | www.disgenet.com | GraphProduct | ❔ | DisGeNET data, including gene to dise... |