is a Data Source.
dbSNP contains human single nucleotide variations, microsatellites, and small-scale insertions and deletions along with publication, population frequency, molecular consequence, and genomic and RefSeq mapping information for both common variations and clinical mutations.
infores:dbsnp
Unknown
| ID | Name | URL | Category | Format | Description |
|---|---|---|---|---|---|
| dbsnp.site | dbSNP Web Interface | snp | Graphical Interface | http | Web interface for searching and explo... |
| dbsnp.api | dbSNP E-utilities API | NBK25500 | Programming Interface | http | Programmatic access to dbSNP data via... |
| dbsnp.json | dbSNP JSON Files | JSON | Product | json | JSON format files with dbSNP RefSNP data |
| dbsnp.variation.api | NCBI Variation Services API | v0 | Programming Interface | http | NCBI Variation Services API for acces... |
| ID | Name | URL | Category | Format | Relation | Description |
|---|---|---|---|---|---|---|
| biomarker.bkg.nodes.variant | BKG Variant Nodes | Variant.nodes.zip (764.6 KB) | Graph | csv | had primary source | Nodes from dbSNP |
| rna-kg.kg.neo4j | RNA-KG Neo4j Dump | rnakgv20.dump (3.7 GB) | Graph | neo4j | had primary source | RNA-KG as a Neo4j Dump |
| rna-kg.kg.nodes | RNA-KG Nodes | nodes.csv (4.1 GB) | Graph | csv | had primary source | RNA-KG Nodes in CSV format |
| rna-kg.kg.edges | RNA-KG Edges | edges.csv (17.1 GB) | Graph | csv | had primary source | RNA-KG Edges in CSV format |
| genecards.variant.data ⚠ | GeneCards Variant Data | www.genecards.org | Product | http | had primary source | Genetic variant data from ClinVar, db... |
| pharmebinet.json | PharMeBINet JSON Release | content (1.8 GB) | Graph | json | was derived from | PharMeBINet V2 JSON release published... |
| pharmebinet.tsv | PharMeBINet TSV Release | content (1.8 GB) | Graph | tsv | was derived from | PharMeBINet V2 TSV release published ... |
| pharmebinet.graphml | PharMeBINet GraphML Release | content (1.9 GB) | Graph | mixed | was derived from | PharMeBINet V2 GraphML release publis... |
| pharmebinet.neo4j | PharMeBINet Neo4j Database | content (3.6 GB) | Graph | neo4j | was derived from | PharMeBINet V2 Neo4j database release... |
| pharmebinet.neo4j.dump | PharMeBINet Neo4j Dump | content (3.4 GB) | Graph | neo4j | was derived from | PharMeBINet V2 Neo4j dump release pub... |
| litvar.web_interface | LitVar Web Interface | litvar2 | Graphical Interface | http | was informed by | Web interface for searching and retri... |
| litvar.api | LitVar API | litvar2-api | Programming Interface | http | was informed by | RESTful API providing programmatic ac... |
| markerdb.api | MarkerDB API | markerdb_api | Programming Interface | http | was informed by | MarkerDB API documentation and endpoi... |
| markerdb.sequence_variants.tsv | MarkerDB Genetic Biomarkers TSV | download_all_sequence_variants?format=tsv | Product | tsv | was informed by | TSV export of MarkerDB genetic biomar... |
| biobtree.api | BioBTree REST API | api | Programming Interface | http | had primary source | REST API for searching identifiers an... |
| genecards.web.interface | GeneCards Web Interface | www.genecards.org | Graphical Interface | http | had primary source | Web-based interface for searching and... |
| biobtree.graph.human-subgraph | BioBTree Knowledge Graph - Human Subgraph (KGX) | 20816742 | Graph | kgx | had primary source | Human-scoped, Neo4j-ready subgraph of... |
| biomarker.bkg.edges.variant | BKG Variant Edges | Variant.edges.zip (1.0 MB) | Graph | csv | had primary source | Biomarker to Variant relationships (i... |
| pubchem.substances.asn | PubChem Substances ASN | ASN | Product | xml | was influenced by | PubChem substance information in ASN.... |
| pubchem.substances.sdf | PubChem Substances SDF | SDF | Product | sdf | was influenced by | PubChem substance information in SDF ... |
dbSNP (Database of Single Nucleotide Polymorphisms) is a public archive for genetic variation established in 1999 by the National Center for Biotechnology Information (NCBI) in collaboration with the National Human Genome Research Institute (NHGRI). It serves as a central repository for both single nucleotide variations and small-scale insertions and deletions (indels).
The database contains over 328 million reference SNPs (as noted on the homepage) and includes data on:
dbSNP assigns unique identifiers to variants (RefSNP or “rs” numbers) which are widely used in genomic research and clinical settings for consistent variant identification across different studies and platforms. The database is integrated with other NCBI resources including PubMed, Gene, ClinVar, and the NCBI Variation services.
The resource also includes the Allele Frequency Aggregator (ALFA) project, which provides allele frequency data from over 200,000 subjects with regular updates, aiming to eventually cover data from more than 1 million dbGaP subjects.
Data from dbSNP is available through a web interface, programmatic APIs like E-utilities and Variation Services, and bulk downloads via FTP in formats including VCF, JSON, and XML.
Created: May 04, 2025 | Last modified: September 23, 2026