Fig. 2

a–d Results of screening for genetic associations between common variants tagging the COL6A2 gene and a broad spectrum of phenotypes (a, b), as well as RNA (c) and protein (d) expression of collagen type VI, alpha 2. a Results of a COL6A2gene-based PheWAS. Plot showing association results for rs12626197, a common intronic variant tagging the COL6A2 gene on chromosome 21, across all phenotypes in the gene atlas database (accessed July 2020). Phenotypes are clustered according to related diseases (e.g., cardiovascular diseases or gastrointestinal diseases). b Replication in the FinnGen study. Plot showing the association results for rs12626197 across all phenotypes (clustered as in panel a) in the FinnGen database (accessed July 2020). rs12626197 shows an association signal for diverticular disease, thereby replicating the finding from the gene atlas database shown in panel a. c RNA expression of COL6A2. Summary of COL6A2 RNA expression in normal human tissue based on RNA-seq expression and data from the expression atlas (https://www.targetvalidation.org/target/ENSG00000142173, accessed November 2020). COL6A2 is expressed in the colon and intestine, as well as other human tissues. d Protein expression of collagen type VI, alpha 2. Summary of protein expression in normal human tissue based on the human protein atlas (http://www.proteinatlas.org/ENSG00000142173-COL6A2/tissue, accessed November 2020). Collagen type VI, alpha 2 is expressed in the colon and intestine, as well as other human tissues