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What does the evidence status mean for a variant?

Data supporting the variant. Reported evidence types include:

  • 1000Genomes - the variant was discovered by the 1000 genomes project and both alleles were observed at least once.
  • Cited - the variant is cited in a PubMed indexed article.
  • ESP - the human variant was discovered in the Exome Sequencing Project
  • Frequency - allele frequency data is available for the variant and both alleles are seen in at least one population sample.
  • HapMap - the variant was found to be polymorphic in at least one population sample genotyped by the HapMap project.
  • Multiple_observations - the variant was discovered by different labs or in different sample populations.
  • Phenotype_or_Disease - the variant was associated with a known phenotype or disease.
  • ExAC – the variant has been observed in the ExAC exome sequencing data.

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