Tag: colocalization

The UK Biobank has rare variant associations with plasma protein levels

We identified all variants reported in the NHGRI-EBI catalogue of human GWAS74 in high LD with sentinel pQTLs based on UKB-BI data and Icelandic SomaScan data. In addition to high LD between the disease-associated variant and both the pQTL and a variant in the credible set, we estimated the posterior probability of statistical colocalization for the variants associating with disease and protein levels when they were not identical.

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