Genetic Variation Databases

• Human Gene Mutation Database (Cardiff): http://www.hgmd.org
• Database of Genomic variants: “A curated catalogue of large-scale variation in the human genome. The objective of the Database of Genomic Variants is to provide a comprehensive summary of human large-scale genomic variants with information about frequency and their relation to genes, segmental duplications and genome assembly gaps. The Database of Genomic Variants will provide a useful catalog of control data for studies aiming to correlate large-scale genomic variation with phenotypic data.” - http://projects.tcag.ca/variation/ 
• dbSNP: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=Snp&cmd=Limits
• Ensembl: http://www.ensembl.org/
• Framingham - Cardiogenomics Program - Harvard: “149 cardiovascular risk genes SNP scanned, typed and analysed in the Framingham Heart Study. Currently comprehensively characterizing common genetic variation (linkage disequilibrium [LD] structure) in 52 candidate genes and identifying common missense variants in an additional 150 candidate genes identified by parallel mouse and human studies, and determining which of these genotypes are associated with echocardiographic measures of left ventricular size and function among members of the Framingham Heart Study (FHS).” - http://cardiogenomics.med.harvard.edu/genes/gene-list
• French mutation database: http://www.umd.necker.fr/
• Genetic Association Database (NIH): “The Genetic Association Database is an archive of human genetic association studies of complex diseases and disorders. The goal of this database is to allow the user to rapidly identify medically relevant polymorphism from the large volume of polymorphism and mutational data, in the context of standardized nomenclature. The data is from published scientific papers. Study data is recorded in the context of official human gene nomenclature with additional molecular reference numbers and links. It is gene centered. That is, each record is a record of a gene or marker. If a study investigated 6 genes for a particular disorder, there will be 6 records. Anyone may view this database and anyone may submit records.” - http://geneticassociationdb.nih.gov/ 
• HapMap: http://www.hapmap.org
• HGVS List of Locus Specific Mutation Databases: “Human Genome Variation Society List of Locus Specific Mutation Databases, their URLs and curators." - http://www.genomic.unimelb.edu.au/mdi/dblist/glsdb.html
• Human Genome Epidemiology Network, (HuGENet™) reviews: “A HuGE Review identifies human genetic variations at one or more loci, and describes what is known about the frequency of these variants in different populations, identifies diseases that these variants are associated with and summarizes the magnitude of risks and associated risk factors, and evaluates associated genetic tests. Reviews point to gaps in existing epidemiologic and clinical knowledge, thus stimulating further research in these areas. We invite authors to write reviews in their area of expertise.” - http://www.cdc.gov/genomics/hugenet/reviews.htm 
• Links to Many Locus-Specific Mutation Databases: “A considerable number of locus-specific mutation databases have been constructed and made publically available via the internet. Many of the lesions present in these databases are included in the Human Gene Mutation Database. However, the locus-specific databases may contain additional unpublished material. An article reviewing current locus-specific databases recently appeared in Genome Res (2002) 12: 680-688." - http://archive.uwcm.ac.uk/uwcm/mg/docs/oth_mut.html
• The PICS (Predicted Impact of Coding SNPs) database (>9,000 coding SNPs relevant to cancer) We have classified and catalogued the predicted impact on protein function of non-synonymous single nucleotide polymorphisms (nsSNPs) in genes relevant to the biology of cancer using in silico computational tools. The data is supplementary to that published in: Matthew F. Rudd, Richard D. Williams, Emily L. Webb, Steffen Schmidt, Gabrielle S. Sellick, Richard S. Houlston. The PICS (Predicted Impact of Coding SNPs) database. Cancer Epidemiology, Biomarkers and Prevention (in press). - http://www.icr.ac.uk/cancgen/molgen/MolPopGen_PICS_database.htm
• Schizophrenia candidate gene database: "VSD contains 23,648 variations assigned to a total of 186 genes. There are 141 candidate genes distributing on four neurotransmitters related amino acid pathways (tyrosine, tryptophan and glutamate metabolism pathways), 45 schizophrenia candidate genes extracted from research literatures. 79.5% of all variations are located within intronic region, 5.9% within exonic region, and 2.1% are nsSNPs" - http://bioinfo.tsinghua.edu.cn:8080/vsd/index.php
• SNP500Cancer project: "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. SNP500Cancer provides a central resource for sequence verification of SNPs." - http://snp500cancer.nci.nih.gov/home_1.cfm?CFID=383694&CFTOKEN=17433341