Why can't I find a known association?

Last updated 6 months ago

If we miss known associations that are described elsewhere, please get in touch. The reasons can be severalfold and we will look at the examples on a case-by-case basis. If the known association is described in a recent paper, it will not have made it through the curation process within our data sources yet. If the known association is based on a variant with an ID (e.g. rs123, His166Tyr), please include that information as well. We are revisiting our variant-to-gene assignment to assess if eQTLs could give a more likely assignment that the one we currently use, which is based on functional data only as described in "How does Open Target assign variants (e.g. SNPs) to genes?". By providing this information, you can help us improve our analyses for variant-to-gene assignment.