Simple ClinVar is a web-server application that is able to provide variant, gene, and disease level summary statistics based on the entire ClinVar database in a dynamic and user-friendly web-interface. Overall, our web application is able to interactively answer basic questions regarding genetic variation and its known relationships to disease.
- Great database of diseases and the Genes, Gene variants, and phenotypes associated with them
- Lots of meta data added to genes which make them easier to search for
- Limited to only human diseases
A standard database with an easy to use design and intuitive organization.
There is no help section, but the tool is easy enough to use. Keep queries general and you may need to try alternative names for genes.
- Landrum, M. J., Lee, J. M., Benson, M., Brown, G. R., Chao, C., Chitipiralla, S., ... & Karapetyan, K. (2018). ClinVar: improving access to variant interpretations and supporting evidence. Nucleic acids research, 46(D1), D1062-D1067.
- Pérez-Palma, E., Gramm, M., Nürnberg, P., May, P., & Lal, D. (2019). Simple ClinVar: an interactive web server to explore and retrieve gene and disease variants aggregated in ClinVar database. Nucleic Acids Research, 47(W1), W99-W105.