Loci with phenotype associations
Loci associated with a phenotype, disease or trait are listed on this page. These loci may be genes, variants, structural variants or QTLs. Loci names, types, locations and the source of the annotation are reported. Where the report of an association to a variant also implicates a gene, the gene name is also listed. information from external references, such as publications, are reported where available. The submitter column is specific to data imported from ClinVar, and contains information about the group who produced and submitted the data initially. The supporting evidence column contains PubMed ID(s) that have cited this association, this is also only available for ClinVar data.
The table can be filtered by loci type or annotation source.