How to use these sites How to use these sites

Use these databases to identify published research. These links are ideal for conducting primary and secondary research about monogenic disorders, multifactorial traits; sequence variants and pharmacogenetics. The collated information is annotated and indexed and regularly updated by experts.

Use the links below to assist with your research Use the links below to assist with your research

Catalog of Genome Wide Analysis Studies (GWAS)

This catalogue is maintained by the United States’ National Genetic Research Institute.  Published genome wide association studies are searchable by disease (organised into 17 trait-categories) or gene or SNP or locus. Searches can be refined according to effect size and by p-value of associations found.

The Pharmacogenomics Knowledgebase

This valuable, searchable resource is managed by Stanford University and it appraises primary published research about pharmacogenomics and stratified medicine. It annotates important genetic variants and Pharmacogenetic pathway. Its clinical information includes drug-dosing guidelines.  

Curation includes comments on study quality and the clinical validity and utility of genetic markers.

Gene Cards

This is a searchable database of all human genes. Standard nomenclature is used throughout but so are synonyms. The integrated database provides comprehensive information about gene function; sequence variants; mapping and any associated information about disease traits.


This is the database of all publicly available DNA sequences from any organism, including humans. The data provided is comprehensive and up to date. It is maintained and annotated by the United States’ National Center for Biotechnology Information (NCBI).


dbSNP (single nucleotide polymorphism database)

The National Center for Biotechnology Information (NCBI) manages this database of all SNPs and other small scale sequence variants.

Each SNP has numerical identifiers; these include the reference SNP ID number (rs#).

Scientist can submit their findings of sequence variants to the database for inclusion and annotation.