Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.
: The variant's affect on the protein's function, in the format Reported/Curator concluded; '+' indicating the variant affects function, '+?' probably affects function, '-' does not affect function, '-?' probably does not affect function, '?' effect unknown, '.' effect not classified.
: On which allele is the variant located? Does not necessarily imply inheritance! 'Paternal' (confirmed or inferred), 'Maternal' (confirmed or inferred), 'Parent #1' or #2 for compound heterozygosity without having screened the parents, 'Unknown' for heterozygosity without having screened the parents, 'Both' for homozygozity.
: Description of variant at DNA level, based on the genomic DNA reference sequence (following HGVS recommendations).
: Database ID of variant, grouping multiple observations of the same variant together, starting with the HGNC gene symbol, followed by an underscore (_) and a six digit number (e.g. DMD_012345). _000000 is used for variants where DNA was not analysed (change predicted from RNA analysis), variants seen in animal models or variants not seen in humans but functionally tested in vitro.
: Here, we mention gene or locus which are reported in study. For example, if variant is intergenic, authors mapped the variants to nearby gene(s)
: The dbSNP ID.
: Risk allele are mentioned in order of their Pubmed references
: Population in which study has been conducted
: Links to abstracts in the PubMed database.
 = The name of the author(s), possibly followed by the year of publication.
 = The PubMed ID.
: Reference to publication describing the variant, including links to OMIM (when available), PubMed or or other source, e.g. "den Dunnen ASHG2003 P2346".
: Frequency of variant in 1000 Genomes Project
: Link to GTEx portal
: Type/kind of study that shows association of variant.