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Research tool·genomics·pheweb_phewas

UKBTOPMed Phewas By Variant

Phenome-wide association study (PheWAS) lookup for a single variant in the UKB-TOPMed PheWeb (UK Biobank, ~400K European-ancestry samples, 1,400+ phecode phenotypes). Returns every phenotype associated with the variant, sorted by p-value. Accepts an rsID (auto-resolved to GRCh38 via Ensembl) or an explicit chr:pos:ref:alt variant in GRCh38. Use for variant pleiotropy assessment and replication in a European population.

AvailableCortexa

Schema

JSON Schema the agent (or your API call) must match.

View JSON schemaExpandCollapse
JSON · 26 lines · 843 chars

Examples (1)

Default UKBTOPMed Phewas By Variant call

Public-safe example · rate-limited

JSON input · 6 lines · 90 chars
Expected response keys: success

Identifiers

Catalog ID
tu_UKBTOPMed_phewas_by_variant
Tool name
UKBTOPMed_phewas_by_variant
Added
2026-07-29 18:13Z
Tags
tooluniverse
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