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.