Endpoints

Registries

The disease endpoints were defined using nationwide registries:

• Drug purchase and Drug Reimbursement

• Digital and Population Data Services Agency

• Statistics Finland

• Register of primary health care visits: AVOHILMO

• Care Register for Health Care: HILMO

• Finnish cancer registry

We harmonized over the International Classification of Diseases (ICD) revisions 8, 9 and 10, cancer-specific ICD-O-3, (NOMESCO) procedure codes, Finnish-specific Social Insurance Institute (KELA) drug reimbursement codes and ATC-codes.

These registries spanning decades were electronically linked to the cohort baseline data using the unique national personal identification numbers assigned to all Finnish citizens and residents.

A full list of FinnGen endpoints is available online for release 4.

Excluded endpoints

The endpoints with fewer than 100 cases, near-duplicate endpoints, and developmental “helper” endpoints were excluded from the final PheWas (column “OMIT”).

Endpoints with N<150 are not released by THL (Finnish Institute for Health and Welfare).

Risteys

risteys.finngen.fi (Risteys = intersection in Finnish) allows browsing of the FinnGen data at the phenotype level, including endpoint definitions, statistics about number of individuals, gender distribution, and longitudinal relationships.