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A new polymorphism database

  August, 31 1998 15:26
your information resource in human molecular genetics
We recently released a public database entitled HGBASE (Human Genic Bi-Allelic SEquences) which lists human intra-genic DNA sequence polymorphisms. We believe that such a database is desperately needed just now, given the recent explosion of interest in Single Nucleotide Polymorphisms (SNPs) and their possible association with disease and pharmacogenetic variation.

HGBASE can be accessed at:


For further information please contact:

Anthony J. Brookes (tony.brookes@medgen.uu.se)
Jonathan A. Prince (Jonathan.Prince@medfarm.uu.se)


HGBASE lists human intra-genic (promoter to transcription end point) DNA sequence polymorphisms. It has been constructed by The Department of Genetics and Pathology at Uppsala University and Interactiva Biotechnologie GmbH. HGBASE does not include gene 'mutations', but is a catalogue of intra-genic sequence variants found in 'normal' individuals. Despite its name, HGBASE contains all types of gene based variation and is not limited to bi-allelic Single Nucleotide Polymorphisms (SNPs). Functionally consequential polymorphisms (e.g. promoter and non-silent codon changes) and other polymorphisms (e.g. intron sequence differences) are included.

Search tools are provided to find data within HGBASE. Searches utilise a text string or a DNA sequence. Data submission is by a series of Web page data submission forms. All submitted data is made available to other public databases. The exponential growth in polymorphism discovery requires that scientists make every effort to submit their data to HGBASE to ensure it remains up to date. HGBASE does not claim any rights to publicly available or submitted data, instead this remains the property of the original submitter/discoverer. Deposition of data within HGBASE requires only the allelic DNA sequence, the allele frequencies, the host gene name, and the intra-genic domain. Additional information, such as assay conditions, can be supplied but this is optional.

Message posted by: Frank S. Zollmann

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