Trait: chronic lymphocytic leukemia/small lymphocytic lymphoma

Trait Information
Identifier MONDO_0003864
Description An indolent, mature B-cell neoplasm composed of small, round B-lymphocytes. When the bone marrow and peripheral blood are involved, the term chronic lymphocytic leukemia is used. The term small lymphocytic lymphoma is restricted to cases which do not show leukemic involvement of the bone marrow and peripheral blood. [NCIT: C27911]
Trait categories
Cancer
Immune system disorder
Other disease
Synonyms 3 synonyms
  • CLL/SLL
  • chronic lymphocytic leukemia/small lymphocytic lymphoma
  • chronic lymphocytic leukemia/small lymphocytic lymphoma (morphologic abnormality)

Associated Polygenic Score(s)

Filter PGS by Participant Ancestry
Individuals included in:
G - Source of Variant Associations (GWAS)
D - Score Development/Training
E - PGS Evaluation
List of ancestries includes:
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Ancestry legend
Multi-ancestry (including European)
Multi-ancestry (excluding European)
African
East Asian
South Asian
Additional Asian Ancestries
European
Greater Middle Eastern
Hispanic or Latin American
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)
PGS019967
(CLL)
 PGP000850 |
Hu J et al. PLoS Genet (2026)
 Chronic lymphocytic leukemia and small lymphocitis leukemia chronic lymphocytic leukemia/small lymphocytic lymphoma 1,083,426
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019967/ScoringFiles/PGS019967.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
PPM038173 PGS019967
(CLL)
 PSS013860|
European Ancestry|
352,728 individuals
 PGP000850 |
Hu J et al. PLoS Genet (2026)
 Reported Trait: Chronic Lymphocytic Leukemia and Small Lymphocitis Leukemia OR: 1.74 [1.65, 1.83] AUROC: 0.66 [0.64, 0.67] — — —

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
PSS013860 — —
[
  • 1,259 cases
  • , 351,469 controls
]
 — European
(EUR)		 — UKB —