Table 2. Databases containing associations between genetic variations, associated phenotypes and genetic tests.

Name	Description
PharmGKB	A large database of curated knowledge and raw data about associations between genes, genetic variants, drug response and disease [34,120]
GWAS Central (formerly called HGVbaseG2P)	A database of GWAS that also provides summaries of study results [121]
SNPedia	A wiki-based platform containing information on phenotypes associated with SNP variants, population prevalence of genetic variants and SNP microarrays [122]
OMIM	Information about diseases with Mendelian inheritance, including references to the implicated genes [123]
dbGaP	Results of studies that have investigated the interaction of genotype and phenotype [124]
GEN2PHEN Knowledge Center	Integrated genotype-to-phenotye data with facilities for data annotation and user feedback [35,125]
GET-Evidence	A large database of automatically annotated and then manually curated information about the impact of genetic variations [126]
HuGE Navigator	Information on genetic variants, gene–disease associations, gene–gene and gene–environment interactions and evaluation of genetic tests [127]
GAD	Diseases associated with genetic variants [128]
Genotator	Aggregated gene–disease relationship data containing an integrated view over other datasets [129]
NCBI GeneTests	This resource concerns genetic tests used in diagnostic and genetic counseling [130]
The Genetic Testing Registry	A database (under development) about genetic markers and tests that enable their clinical exploration [131]

dbGaP: Database of Genotypes and Phenotypes; GAD: Genetic Association Database; GET: Genomes, environments, traits; GWAS: Genome-wide association studies; OMIM: Online Mendelian Inheritance in Man; PharmGKB: Pharmacogenomics Knowledge Database.