All traits listed in the catalog of published GWAS (www.genome.gov/gwastudies/; date accessed 10 January 2013) were extracted and expertly curated into phenotypic groupings blind to GWAS or eSNP data. Groups were defined on the basis of organ specificity of a particular trait, disease process, or type. These included cardiovascular, respiratory, gastroenterological, urological, rheumatological, neurological, renal, endocrine, hematological, dermatological, bone, cancer, immunity and inflammation, autoimmune, allergy, genetic, viral infection, bacterial infection, parasitic disease, measurement, physiological, metabolic, chronic or degenerative disease, reproduction, and drug-related. We recognized that classification of a given trait was possible into multiple groups, and to capture this diversity, for each trait, we assigned trait membership into three possible groups.
