Is the “risk allele” for a given site-disease association available (or derivable from data) in the HGMD database?
The allele associated with the HGMD phenotype is available in the “Mutnomen” table (mutBASE column). The wildBASE column is the wild-type nucleotide sequence (NULL for insertions) and the mutBASE column is the mutated nucleotide sequence (NULL for deletions). When looking at the core data tables (e.g. mutation, prom), the phenotype allele should be the variant allele.
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