Table 1.

Population, Disease-Specific, and Sequence Databases

Population Databases
Exome Aggregation Consortium http://exac.broadinstitute.org/	Database of variants found during exome sequencing of 61,486 unrelated individuals sequenced as part of various disease-specific and population genetic studies. Pediatric disease subjects as well as related individuals were excluded.
Exome Variant Server http://evs.gs.washington.edu/EVS	Database of variants found during exome sequencing of several large cohorts of individuals of European and African American ancestry. Includes coverage data to inform the absence of variation.
1000 Genomes http://browser.1000genomes.org	Database of variants found during low-coverage and high- coverage genomic and targeted sequencing from 26 populations. Provides more diversity compared to EVS but also contains lower quality data and some cohorts contain related individuals.
dbSNP http://www.ncbi.nlm.nih.gov/snp	Database of short genetic variations (typically 50 bp or less) submitted from many sources. May lack details of originating study and may contain pathogenic variants.
dbVar http://www.ncbi.nlm.nih.gov/dbvar	Database of structural variation (typically greater than 50 bp) submitted from many sources.
Disease Databases
ClinVar http://www.ncbi.nlm.nih.gov/clinvar	Database of assertions about the clinical significance and phenotype relationship of human variation.
OMIM http://www.omim.org	Database of human genes and genetic conditions that also contains a representative sampling of disease-associated genetic variants.
Human Gene Mutation Database http://www.hgmd.org	Database of variant annotations published in the literature. Requires fee-based subscription for much of the content.
Locus/Disease/Ethnic/Other-Specific Databases http://www.hgvs.org/dblist/dblist.html http://www.lovd.nl	The HGVS site developed a list of thousands of different databases that provide variant annotations on specific subsets of human variation. A large percentage of databases are built in the LOVD system.
DECIPHER http://decipher.sanger.ac.uk	A molecular cytogenetic database for clinicians and researchers linking genomic microarray data with phenotype using the Ensembl genome browser.
Sequence Databases
NCBI Genome http://www.ncbi.nlm.nih.gov/genome	Source of full human genome reference sequences.
RefSeqGene http://www.ncbi.nlm.nih.gov/refseq/rsg and Locus Reference Genomic (LRG) http://www.lrg-sequence.org	Medically relevant gene reference sequence resource
MitoMap http://www.mitomap.org/MITOMAP/HumanMitoSeq	Revised Cambridge reference sequence (rCRS) for the Human Mitochondrial DNA