PGS Sample Set (PSS): PSS001041

Phenotype Cases were individuals with type 1 diabetes. Cases were identified by extracting clinical diagnoses from the electronic health record using the 9th and 10th International Statistical Classification of Diseases and Related Health Problems (ICD) Clinical Modification (CM) codes that mapped to the phenotype and transformed these ICD9/ICD10 codes into phecodes, which aggregate one or more related ICD codes into distinct diseases or traits. For each phenotype, cases were defined as individuals with 2 or more instances of the specific phecode in the electronic health record. Phecodes for type 1 diabetes include: 250.1. Of the type 1 diabetes cases 165 had renal manifestations, 230 had ophthalmic manifestations and 218 had neurological manifestations.
Sample Ancestry European

Sample Numbers

Total number
19,191 individuals
Detailed numbers
1,156 cases (6.02%)
18,035 controls
Number of Cohort(s) 1
Sample distribution


Cohort Short Name Cohort Full Name Previous/other/additional names (e.g. sub-cohorts)
eMERGE Medical Records and Genomics study