FINDbase.org - Genome Variation Allele Frequencies Worldwide

Causative Mutations

Causative Mutations

This module of FINDbase database documents the frequencies of causative mutations leading to inherited disorders in various populations worldwide [van Baal et al., 2007]. Database records include the population, the ethnic group and/or the geographic region, the gene name and its variation parameters, the rare allele frequencies, accompanied by links to the respective Online Mendelian Inheritance in Man (OMIM) and the Human Gene Mutation database (HGMD) entries. All entries are recorded against their unique PubMed and ResearcherIDs.

The current data collection of this module includes curated allelic frequency data for more than 3,800 disease-causing mutations across 26 genes, representing over 100,000 individuals from 92 populations worldwide.

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