Trait: Asthma

Trait Information
Identifier HP_0002099
Description Asthma is characterized by increased responsiveness of the tracheobronchial tree to multiple stimuli, leading to narrowing of the air passages with resultant dyspnea, cough, and wheezing.
Trait category
Other trait
Synonyms 3 synonyms
  • Asthma
  • Bronchial asthma
  • Reactive airway disease

Associated Polygenic Score(s)

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Individuals included in:
G - Source of Variant Associations (GWAS)
D - Score Development/Training
E - PGS Evaluation
List of ancestries includes:
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Multi-ancestry (excluding European)
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Additional Diverse Ancestries
Not Reported
Polygenic Score ID & Name PGS Publication ID (PGP) Reported Trait Mapped Trait(s) (Ontology) Number of Variants Ancestry distribution
GWAS
Dev
Eval
 Scoring File (FTP Link)
PGS012541
(EN_model_Asthma)
 PGP000790 |
Hu J et al. Genet Med (2026)
 Asthma Asthma 969,763
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS012541/ScoringFiles/PGS012541.txt.gz

Performance Metrics

Disclaimer: The performance metrics are displayed as reported by the source studies. It is important to note that metrics are not necessarily comparable with each other. For example, metrics depend on the sample characteristics (described by the PGS Catalog Sample Set [PSS] ID), phenotyping, and statistical modelling. Please refer to the source publication for additional guidance on performance.

PGS Performance
Metric ID (PPM) 		Evaluated Score PGS Sample Set ID
(PSS) 		Performance Source Trait PGS Effect Sizes
(per SD change) 		Classification Metrics Other Metrics Covariates Included in the Model PGS Performance:
Other Relevant Information
PPM030647 PGS012541
(EN_model_Asthma)
 PSS012223|
European Ancestry|
122,892 individuals
 PGP000790 |
Hu J et al. Genet Med (2026)
 Reported Trait: Asthma OR: 1.4 [1.38, 1.42] AUROC: 0.59 [0.59, 0.6] — — —

Evaluated Samples

PGS Sample Set ID
(PSS) 		Phenotype Definitions and Methods Participant Follow-up Time Sample Numbers Age of Study Participants Sample Ancestry Additional Ancestry Description Cohort(s) Additional Sample/Cohort Information
PSS012223 — —
[
  • 17,218 cases
  • , 105,674 controls
]
 — European — UKB —