clinvar

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.

Domains

biomedical, genomics, clinical, precision medicine, health, translational

Homepage

clinvar

Repository

Unknown

Infores ID

Unknown

FAIRsharing ID

Unknown

Products

From this Resource
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...
From other Resources
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...
kg-monarch.graph KGX Distribution of KG-Monarch monarch-kg.tar.gz (220.2 MB) GraphProduct kgx KGX Distribution of KG-Monarch
kg-monarch.graph.jsonl KGX JSON-L Distribution of KG-Monarch monarch-kg.jsonl.tar.gz (301.0 MB) GraphProduct kgx-jsonl KGX JSON-Lines Distribution of KG-Mon...
kg-monarch.graph.rdf RDF Distribution of KG-Monarch monarch-kg.nt.gz (838.5 MB) GraphProduct rdfxml RDF Distribution of KG-Monarch
kg-monarch.graph.neo4j Neo4j Dump of KG-Monarch monarch-kg.neo4j.dump (1.3 GB) GraphProduct Neo4j Dump of KG-Monarch
kg-monarch.graph.duckdb DuckDB database of KG-Monarch monarch-kg.duckdb (6.4 GB) GraphProduct DuckDB database of KG-Monarch
pheknowlator.graph PheKnowLator graph knowledge_graphs?pageState=(%22StorageObjectListTable%22:(%22f%22:%22%255B%255D%22))&inv=1&invt=Ab5_1Q&project=pheknowlator GraphProduct owl PheKnowLator graph files, including s...
kg-monarch.graph.jsonl.edges KGX JSON-L Distribution of KG-Monarch Edges monarch-kg_edges.jsonl (14.2 GB) GraphProduct kgx-jsonl KGX JSON-Lines Distribution of KG-Mon...
kg-monarch.graph.jsonl.nodes KGX JSON-L Distribution of KG-Monarch Nodes monarch-kg_nodes.jsonl (1.1 GB) GraphProduct kgx-jsonl KGX JSON-Lines Distribution of KG-Mon...
kg-monarch.graph.neo4j.edges Neo4j Dump of KG-Monarch Edges monarch-kg_edges.neo4j.csv (4.1 GB) GraphProduct neo4j Neo4j Dump of KG-Monarch Edges
kg-monarch.graph.neo4j.nodes Neo4j Dump of KG-Monarch Nodes monarch-kg_nodes.neo4j.csv (333.4 MB) GraphProduct neo4j Neo4j Dump of KG-Monarch Nodes

Is this information incorrect or incomplete? Request an update.