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dbQSNP"  info

dbQSNP is a database, that provides sequence and allele frequency information for single-nucleotide polymorphisms (SNPs) located in the promoter regions of human genes, which were defined by the 5' ends of full-length cDNA clones.

Single Nucleotide Polymorphism

A key aspect of research in genetics is associating sequence variations with heritable phenotypes. The most common variations are single nucleotide polymorphisms (SNPs), which occur approximately once every 100 to 300 bases. Because SNPs are expected to facilitate large-scale association genetics studies, there has recently been great interest in SNP discovery and detection.
In collaboration with the National Human Genome Research Institute, The National Center for Biotechnology Information has established the dbSNP database to serve as a central repository for both single base nucleotide subsitutions and short deletion and insertion polymorphisms.

Genetic Association Database"  info

The Genetic Association Database is an archive of human genetic association studies of complex diseases and disorders. The aim of this database is to identify medically relevant polymorphism from the large volume of polymorphism and mutational data.

Genome Wide Association Database

The genome wide association database (GWAS DB) is a repository system and has been constructed to achieve permanent data management and information sharing of genome wide association data. GWAS-DB contains experimental frequency data such as allele frequencies and genotype frequencies, and statistical genetics analysis results such as allelic model, dominant model, recessive model, and additive model and provides graphic viewer to search disease related SNP candidates.

Variation Databases

List of human genome variation databases. This list was compiled by Rania Horaitis at the Genomic Disorders Research Centre, Melbourne.

  • Locus Specific Mutation Databases
  • Disease Centered Central Mutation Databases
  • Central Mutation & SNP Databases
  • National & Ethnic Mutation Databases
  • Mitochondrial Mutation Databases
  • Chromosomal Variation Databases
  • Clinical & Patient Aspects Databases
  • Non Human Mutation Databases
  • Artificial Mutations Only

  • Japanese SNP Database"  info

    JSNP is a repository of Japanese Single Nucleotide Polymorphism (SNP) data, begun in 2000 and developed through the Prime Ministerís Millennium Project. The aim of this undertaking is to identify and collate up to 150.000 SNPs from the Japanese population, located in genes or in adjacent regions that might influence the coding sequence of the genes. The project has been carried out by a collaboration between the Human Genome Center (HGC) in the Institute of Medical Science (IMS) at the University of Tokyo and the Japan Science and Technology Corporation (JST).

    PEDE - Pig cSNP Database

    Informations about SNPs in cDNA of the pig.

    Polymorphism Phenotyping

    PolyPhen (=Polymorphism Phenotyping) is a tool which predicts possible impact of an amino acid substitution on the structure and function of a human protein using straightforward physical and comparative considerations.

    PTCH1 Mutation Database

    Database about mutations and polymorphisms in the PTCH1 gene.

    REPBASE"  info

    Repbase Update is a database of repetitive elements from diverse eukaryotic organisms.

    Database for Repeat Prioritization"  info

    Satellog provides the ability to dynamically prioritize repeats based on any of their characteristics (i.e. repeat unit, class, period, length, repeat length percentile rank, genomic co-ordinates), polymorphism profile within UniGene, proximity to or presence within gene regions (i.e. cds, UTR, 15 kb upstream etc.), metadata of the genes they are detected within and gene expression profiles within normal human tissues. Unstable repeats associated with 31 diseases were analyzed in Satellog to evaluate their common repeat properties. The utility of Satellog was highlighted by prioritizing repeats for Huntington's disease and schizophrenia.

    The SNP Consortium Database"  info

    The SNP Consortium Ltd. is a non-profit foundation organized for the purpose of providing public genomic data. Its mission is to develop up to 300,000 SNPs distributed evenly throughout the human genome and to make the information related to these SNPs available to the public without intellectual property restrictions.

    SNP500 Cancer Database

    The goal of the SNP500Cancer project is to resequence 102 reference samples to find known or newly discovered single nucleotide polymorphisms (SNPs) which are of immediate importance to molecular epidemiology studies in cancer.

    Single Nucleotide Polymorphisms Database (SNPper)

    SNPper (pronounced 'snipper') is a web-based application to look for known Single Nucleotide Polymorphisms (SNPs) in public databases.

    Database Of Tandem Repeats In The Human Genome"  info

    The Database Of Tandem Repeats In The Human Genome is maintained by the Bioinformatics Centre, Washington Singer Laboratories, University of Exeter, UK.

    The Tandem Repeats Database

    Tandem repeats in DNA have been under intensive study for many years, first, as a consequence of their usefulness as genomic markers and DNA fingerprints and more recently as their role in human disease and regulatory processes has become apparent. The Tandem Repeats Database (TRDB) is a public repository of information on tandem repeats in genomic DNA. It contains a variety of tools for repeat analysis, including the Tandem Repeats Finder program, query and filtering capabilities, repeat clustering, polymorphism prediction, PCR primer selection, data visualization and data download in a variety of formats.