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PGScatalog / PGS_Catalog

An open database of polygenic scores and relevant metadata needed to apply and evaluate them correctly.
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Search by SNP Not Available #366

Closed DarioS closed 4 months ago

DarioS commented 4 months ago

While showing the catalogue to a clinician, he mentioned it would be handy to search by rsID. Not sure if that is within your scope.

smlmbrt commented 4 months ago

Hi @DarioS, we don't allow searching by rsID because the presence or absence of a variant in a PGS is non-informative. As example, you could look up a strongly-associated rsID for a trait and it might not be in the best score - this isn't because it isn't a strongly associated variant, it's more likely that another variant in LD is included (or the variant was excluded for some reason to do with the computational method used to develop the score). The GWAS Catalog remains the best way to search for rsID associations with disease (http://ebi.ac.uk/gwas).