🧬 Curious how scientists decode the mysteries behind rare, undiagnosed, misdiagnosed and novel genetic diseases? 🧬

💡 Explore these leading human germline variant databases that illuminate genetic diversity, reveal disease-causing genes and drive breakthroughs transforming both research and clinical care. 👇

(I) Population-based databases:

1. Genome Aggregation Database (gnomAD): https://gnomad.broadinstitute.org/
2. 1000 Genomes Project: https://www.internationalgenome.org/
3. dbSNP: https://www.ncbi.nlm.nih.gov/snp/ | Database of short genetic variants = < 50bp
4. dbVar: https://www.ncbi.nlm.nih.gov/dbvar/ | Database of large genetic variants > 50bp

(II) Disease-specific databases:

1. ClinVar: https://www.ncbi.nlm.nih.gov/clinvar/
2. OMIM: https://www.omim.org/
3. Human Gene Mutation Database (HGMD): https://www.hgmd.cf.ac.uk/ac/index.php
4. Leiden Open Variation Database (LOVD): https://www.lovd.nl/
5. DatabasE of genomiC varIation and Phenotype in Humans using Ensembl Resources (DECIPHER): https://www.deciphergenomics.org/
6. MitoMap: https://www.mitomap.org/MITOMAP | Variants in human mitochondrial DNA

(III) Others:

1. Model organism Aggregated Resources for Rare Variant ExpLoration (MARRVEL): https://marrvel.org/
2. European Variation Archive (EVA): https://www.ebi.ac.uk/eva/?Home | All types of genetic variation data from all species