| HUGO Gene Nomenclature Committee (HGNC) |
http://www.genenames.org |
Central database for gene nomenclature in the human genome. |
Provides gene symbol and gene name for human loci links to other resources. Also provides HCOP, a tool to identify potential orthologs of human genes in other species. |
| Entrez Gene |
http://www.ncbi.nlm.nih.gov/gene |
NCBI summary for each gene. |
Links to CliniVar and dbVar provide examples and references for pathogenic alleles. |
| ClinVar |
http://www.ncbi.nlm.nih.gov/clinvar |
Archive of genetic variation and related phenotypes submitted from researchers, diagnostic labs, other sources (SNPs in ClinVar are accessioned in dbSNP and structural variants accessioned in dbVar). |
Variation in a gene can be filtered based on variation type, molecular consequence, number of researchers submitting to find pathogenic mutation in gene of interest. |
| Human Gene Mutation Database (HGMD) |
http://www.hgmd.cf.ac.uk |
Compiles known published disease-causing human mutations. |
Requires registration from a nonprofit organization. Provides references and data on known disease-causing alleles. |
| Human Genome Variation Society (HGVS) Databases |
http://www.hgvs.org/dblist/dblist.html |
Provides links to a number of resources, such as curated locus specific or disease-specific mutation sites. |
Links to a number of specialized databases are provided. |
| Database of Genomic Variants (DGV) |
http://dgv.tcag.ca |
Documents structural variation (gains or losses over 50 bp) in healthy control individuals. |
Allows freely available searches based on human gene name or chromosomal region, entire database can be downloaded as tab delimited file. |
| 1000 Genomes project |
http://www.1000genomes.org |
Lower coverage sequencing data from individuals from several populations, no phenotypic data. |
Most variants are more common variants in populations, searchable by gene or browser. |
| NHLBI Exome Sequencing Project (ESP) Exome Variant Server (EVS) |
http://evs.gs.washington.edu |
Searchable exome sequencing dataset from thousands of individuals phenotyped in distinct cardiovascular and lung cohorts. |
Searches by gene, chromosomal region, or SNP id, provides allele frequencies in European and African Americans. |
| DECIPHER |
https://decipher.sanger.ac.uk |
Structural variation database from consented individuals exhibiting developmental phenotypes. |
Searchable by gene or region, also as a track within the UCSC genome browser linked to phenotype. |
| Database of genotypes and phenotypes (dbGAP) |
http://www.ncbi.nlm.nih.gov/gap |
Controlled access data providing genotypes and phenotypes on deidentified subjects from multiple studies. |
Requires access to be granted by NIH Data Access Committee to examine sequencing data. |
| Catalog of published genome-wide association studies |
http://www.genome.gov/gwastudies/ |
A curated database of GWAS studies meeting quality criteria and their SNP associations. |
Search or download the entire catalog, includes wide range of complex traits, provides strongest risk allele for locus of interest. |
