{"prefix":"exac.variant","name":"ExAC Variant","description":"The Exome Aggregation Consortium (ExAC) is a coalition of investigators seeking to aggregate and harmonize exome sequencing data from a variety of large-scale sequencing projects, and to make summary data available for the wider scientific community. The data pertains to unrelated individuals sequenced as part of various disease-specific and population genetic studies and serves as a reference set of allele frequencies for severe disease studies. This collection references variant information.","pattern":"^\\d{1,2}\\-\\d+\\-[GATC]\\-[GATC]$","uri_format":"http://exac.broadinstitute.org/variant/$1","providers":[],"homepage":"http://exac.broadinstitute.org/","example":"22-46615880-T-C","example_extras":[],"deprecated":false,"mappings":{"biocontext":"EXAC.VARIANT","miriam":"exac.variant","n2t":"exac.variant"},"synonyms":[],"keywords":[],"publications":[],"appears_in":[],"depends_on":[],"namespace_in_lui":false,"preferred_prefix":"exac.variant"}