Novel disease-associated loci and replication in FinnGen and GWAS Catalog

‘snp’: chromosome and position (based on GRCh37); ‘rsid’: rsID; ‘effect’: effect allele; ‘ref’: reference allele; ‘dist_min’: minimum distance from a genome-wide significant SNP (base pairs); ‘trait_code_UKB’: code of the UK biobank trait outcome (from GeneAtlas); ‘trait_description_UKB’: description of the UK biobank trait outcome (from GeneAtlas); ‘beta_UKB’: beta of the effect allele in UK Biobank (from GeneAtlas); ‘se_UKB’; standard error of ‘beta_UKB’; ‘p_UKB’; p-value based on ‘beta_UKB’ and ‘se_UKB’; ‘replication_attempted’: ‘True’ if replication attempted in FinnGen; ‘trait_code_FG’: code of the corresponding FinnGen trait outcome; ‘trait_description_FG’: description of the corresponding FinnGen trait outcome; ‘beta_FG’: beta of the effect allele in FinnGen; ‘se_FG’: standard error of ‘beta_FG’; ‘p_FG’: p-value based on ‘beta_FG’ and ‘se_FG’; ‘bonf_thresh’: significance threshold for replication in FinnGen (based on per-trait Bonferroni correction); ‘replication_successful’: ‘True’ if replication in FinnGen successful (based on per-trait Bonferroni correction); ‘lookup_attempted’: ‘True’ if lookup in GWAS Catalog attempted; ‘traits_Catalog’: genome-wide significant trait association/s in GWAS Catalog; ‘lookup_successful’; ‘True’ if SNP associated to corresponding disease trait in GWAS Catalog; Note: ‘dist_min’ is provided for those associations for which replication in FinnGen was attempted. The value of ‘dist_min’ was set to ‘inf’ if the novel disease-associated SNP was located on a different chromosome from all genome-wide significant SNPs. Replication of nine novel diabetes-associated loci was attempted in FinnGen for both Type 1 and Type 2 diabetes. The values of ‘beta_FG’, ‘se_FG’ and ‘p_FG’ for those nine loci correspond to the more significant association (smaller p-value) between Type 1 and Type 2 diabetes. (TXT)