Genes carry instructions for building proteins, molecules that do most of the body's work. Certain
variations in a gene's
nucleotide sequence can affect the resulting protein's function by altering amino acid sequence and protein structure. The inability of some variant proteins to function properly can cause genetic disorders or other distinctive phenotypes
The Human Genome Variation
database (HGVbase) is a database of annotated records for known sequence
variations in the human genome. This database was designed as a tool to help scientists understand how common genome sequence variations, such as single nucleotide polymorphisms, result in complex phenotypes such as disease susceptibility and reactions to drugs. Each HGVbase record features data extracted from publicly available genome databases or published literature that has been subjected to manual review and enhanced with annotations. HGVbase shares data with NCBI's and currently incorporates about 40% of dbSNP's records into its database. HGVbase is funded by the Karolinska Institute Center for Genomics and Bioinformatics in Sweden, the European Bioinformatics Institute, and the European Molecular Biology Laboratory (EMBL).