The Singapore Human Mutation
And Polymorphism Database

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This website has been created to provide clinicans and scientists access to a central genetic database for the local population. The existence of population and country-specific databases is very important and valuable for the study of population history, genetic-testing, as well as disease association studies. The availability of allele and genotype frequencies for specific ethnic groups in our population would be useful for the selection of informative genetic markers in association studies involving complex traits or phenotypes. Thus, these led to the creation of this database which contains the allele and genotype frequencies. The data catalogued in the database include mutations in Mendelian diseases identified in Singapore, and also frequencies of polymorphisms which had been investigated in either controls or samples associated with specific phenotypes or diseases. Polymorphisms captured include single nucleotide polymorphisms, variable number of tandem repeats and insertions/deletions, but not microsatellite markers.

Data from journal articles identified by searching through PubMed, other online resources, and via personal communication with researchers were compiled and assembled into a single database. Genes are categorized alphabetically, with all the reported polymorphisms/mutations for each gene stated on the same page. The same variant for each gene is stated only once with the different articles/studies on the same variant grouped together. For each gene, some basic information such as what the gene codes for is provided. As for each variant, information such as disease associated, gender, size and ethnic groups of the sample, as well as their various genotype and allele frequencies. Values of zero are also shown if the researchers for the study had indicated that they did test for the genotype or allele but it was not present. Some unpublished data are also included and we thank the researchers for releasing such information prior to publication.

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