A clinician-friendly, point-of-care reference
Human Genome & Variation Disease / Clinical Cancer Pharmacogenomics Functional / Pathways Population / Ancestry Panels & Test Directories
| Database | Category | Description | Data Type | Clinical Utility | Access | Update Frequency* |
|---|---|---|---|---|---|---|
| Ensembl | Human Genome & Variation | Genome browser with annotated genes, variants, comparative genomics. | Genomic & comparative data | Research / Reference | Open access | Updated regularly |
| UCSC Genome Browser | Human Genome & Variation | Genomic sequence data, annotations, rich visualization tools. | Sequences, annotations | Research / Reference | Open access | Continuously updated |
| NCBI dbSNP | Human Genome & Variation | Short genetic variants (SNPs, small indels). | Variant data | Clinical & Research | Open access | Regularly updated |
| dbVar | Human Genome & Variation | Database of large structural variants. | Structural variants | Research / Reference | Open access | Regularly updated |
| gnomAD | Human Genome & Variation | Aggregated exome/genome data across diverse populations. | Population variants | Research / Reference | Open access | Periodically updated |
| ClinVar | Disease / Clinical | Variants and their relationship to human health with submissions and review status. | Clinically annotated variants | Clinical diagnostics | Open access | Updated weekly |
| OMIM | Disease / Clinical | Curated catalog of human genes and genetic phenotypes. | Gene–phenotype relationships | Clinical & Research | Open access (registration may apply) | Updated frequently |
| Orphanet | Disease / Clinical | Rare diseases, phenotypes, prevalence, and orphan drugs. | Disease knowledgebase | Clinical & Research | Open access | Regularly updated |
| DECIPHER | Disease / Clinical | Patient-level phenotype–genotype data for rare disorders. | Phenotype–genotype | Clinical & Research | Free (registration) | Continuously updated |
| HGMD (Public) | Disease / Clinical | Published germline mutations in disease-associated genes (public edition). | Mutation catalog | Clinical & Research | Free (limited); paid full | Periodically updated |
| COSMIC | Cancer | Somatic mutations in human cancer across tissues and genes. | Cancer mutations | Oncology | Free academic; paid commercial | Regularly updated |
| cBioPortal | Cancer | Exploration & visualization of cancer genomics datasets. | Cancer genomics | Oncology | Open access | Continuously updated |
| ICGC | Cancer | International cancer genome data and analyses. | Cancer genomics | Oncology | Open access | Regularly updated |
| PharmGKB | Pharmacogenomics | Drug–gene relationships, dosing guidance, pathway summaries. | PGx variants & pathways | Clinical & Research | Open access | Regularly updated |
| CPIC | Pharmacogenomics | Peer-reviewed gene–drug clinical practice guidelines. | PGx guidelines | Clinical practice | Open access | Regularly updated |
| GeneCards | Functional / Pathways | Gene function, expression, pathways, disorders (search portal). | Gene-centric aggregation | Research / Reference | Free (limited); paid full | Updated regularly |
| UniProt | Functional / Pathways | Protein sequences and functional annotations. | Protein data | Research / Reference | Open access | Updated weekly |
| Reactome | Functional / Pathways | Expert-curated pathways and molecular interactions. | Pathways | Research / Reference | Open access | Regularly updated |
| 1000 Genomes Project | Population / Ancestry | Foundational global human genetic variation resource. | Population variants | Research / Reference | Open access | Final release |
| HGDP | Population / Ancestry | Human Genome Diversity Project data across global populations. | Population genetics | Research / Reference | Open access | Final release |
| PanelApp (Genomics England) | Panels & Test Directories | Crowdsourced gene panel curation with clinical evidence grading. | Gene panels | Clinical diagnostics | Open access | Continuously updated |
| Genetic Testing Registry (GTR) | Panels & Test Directories | Directory of genetic tests and laboratories. | Test catalog | Clinical practice | Open access | Regularly updated |
*Update frequency is indicative and may change with project governance and release cycles.
