PGS Catalog - acute lymphoblastic leukemia [EFO:0000220] (Polygenic Trait)

Trait: acute lymphoblastic leukemia

Experimental Factor Ontology (EFO) Information
Identifier	EFO_0000220
Description	Leukemia with an acute onset, characterized by the presence of lymphoblasts in the bone marrow and the peripheral blood. It includes the acute B lymphoblastic leukemia and acute T lymphoblastic leukemia. [NCIT: C3167]
Trait category	Cancer
Synonyms	26 synonyms ALL ALL - acute lymphocytic leukaemia ALL - acute lymphocytic leukemia acute lymphoblastic leukaemia (ALL) acute lymphoblastic leukaemia (disease) acute lymphoblastic leukemia acute lymphoblastic leukemia (ALL) acute lymphoblastic leukemia (disease) acute lymphoblastic leukemia/lymphoma acute lymphocytic leukaemia acute lymphocytic leukemia acute lymphocytic leukemias acute lymphogenous leukaemia acute lymphogenous leukemia acute lymphoid leukaemia acute lymphoid leukemia leukemia, lymphoblastic, malignant lymphoblastic leukaemia lymphoblastic leukemia lymphoblastic leukemia, acute precursor Lymphoblasic leukaemia precursor Lymphoblasic leukemia precursor cell lymphoblastic leukaemia precursor cell lymphoblastic leukemia precursor lymphoblastic leukaemia precursor lymphoblastic leukemia
Mapped terms	23 mapped terms COHD:134305 DOID:1037 DOID:9952 EFO:0000220 GARD:0000522 GARD:522 HP:0006721 ICD10:C91 ICD10:C91.0 ICD10:C91.00 ICD10:C91.9 ICD10:C91.90 ICD9:204 ICD9:204.0 ICD9:204.00 ICD9:204.9 ICDO:9835/3 MEDGEN:7317 MONDO:0004967 NCIT:C3167 Orphanet:513 SCTID:91857003 UMLS:C0023449
Child trait(s)	chronic lymphocytic leukemia

Associated Polygenic Score(s)

Note: This table shows all PGS for "acute lymphoblastic leukemia" and any child terms of this trait in the EFO hierarchy by default. Include PGS Score(s) for child traits

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)
PGS000646 (PRSWEB_PHECODE204.12_GWAS-Catalog-r2019-05-03-X204.12_P_5e-08_MGI_20200608)	PGP000118 \| Fritsche LG et al. Am J Hum Genet (2020)	Chronic lymphocytic leukemia	chronic lymphocytic leukemia	32		https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000646/ScoringFiles/PGS000646.txt.gz
PGS000647 (PRSWEB_PHECODE204.12_GWAS-Catalog-r2019-05-03-X204.12_P_5e-08_UKB_20200608)	PGP000118 \| Fritsche LG et al. Am J Hum Genet (2020)	Chronic lymphocytic leukemia	chronic lymphocytic leukemia	32		https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000647/ScoringFiles/PGS000647.txt.gz
PGS000648 (PRSWEB_PHECODE204.12_GWAS-Catalog-r2019-05-03-X204.12_PT_MGI_20200608)	PGP000118 \| Fritsche LG et al. Am J Hum Genet (2020)	Chronic lymphocytic leukemia	chronic lymphocytic leukemia	44		https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000648/ScoringFiles/PGS000648.txt.gz
PGS000649 (PRSWEB_PHECODE204.12_GWAS-Catalog-r2019-05-03-X204.12_PT_UKB_20200608)	PGP000118 \| Fritsche LG et al. Am J Hum Genet (2020)	Chronic lymphocytic leukemia	chronic lymphocytic leukemia	27		https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000649/ScoringFiles/PGS000649.txt.gz
PGS000650 (PRSWEB_PHECODE204.12_UKBB-SAIGE-HRC-X204.12_PT_MGI_20200608)	PGP000118 \| Fritsche LG et al. Am J Hum Genet (2020)	Chronic lymphocytic leukemia	chronic lymphocytic leukemia	6		https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000650/ScoringFiles/PGS000650.txt.gz
PGS000651 (PRSWEB_PHECODE204.12_UKBB-SAIGE-HRC-X204.12_LASSOSUM_MGI_20200608)	PGP000118 \| Fritsche LG et al. Am J Hum Genet (2020)	Chronic lymphocytic leukemia	chronic lymphocytic leukemia	76		https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000651/ScoringFiles/PGS000651.txt.gz
PGS000874 (PRS41_CLL)	PGP000220 \| Kleinstern G et al. Blood (2018)	Chronic lymphocytic leukemia	chronic lymphocytic leukemia	41	-	https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000874/ScoringFiles/PGS000874.txt.gz
PGS003448 (PRS15_ALL)	PGP000448 \| Berndt SI et al. Leukemia (2022)	Acute lymphoblastic leukemia	acute lymphoblastic leukemia	15	-	https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003448/ScoringFiles/PGS003448.txt.gz
PGS003453 (PRS43_CLL)	PGP000448 \| Berndt SI et al. Leukemia (2022)	Chronic lymphocytic leukemia	chronic lymphocytic leukemia	43	-	https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003453/ScoringFiles/PGS003453.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
PPM001331	PGS000646 (PRSWEB_PHECODE204.12_GWAS-Catalog-r2019-05-03-X204.12_P_5e-08_MGI_20200608)	PSS000561\| European Ancestry\| 756 individuals	PGP000118 \| Fritsche LG et al. Am J Hum Genet (2020)	Reported Trait: Lymphoid leukemia, chronic	OR: 2.104 [1.628, 2.718] β: 0.744 (0.131)	AUROC: 0.696 [0.628, 0.765]	Nagelkerke's Pseudo-R²: 0.0973 Brier score: 0.0779 Odds Ratio (OR, top 1% vs. Rest): 11.3 [3.76, 33.9]	age, sex, batch PCs 1-4	Cancer PRSweb PheWAS Results: PRSWEB_PHECODE204.12_GWAS-Catalog-r2019-05-03-X204.12_P_5e-08_MGI_20200608
PPM001332	PGS000647 (PRSWEB_PHECODE204.12_GWAS-Catalog-r2019-05-03-X204.12_P_5e-08_UKB_20200608)	PSS000581\| European Ancestry\| 2,758 individuals	PGP000118 \| Fritsche LG et al. Am J Hum Genet (2020)	Reported Trait: Lymphoid leukemia, chronic	OR: 1.874 [1.639, 2.144] β: 0.628 (0.0685)	AUROC: 0.675 [0.64, 0.707]	Nagelkerke's Pseudo-R²: 0.0689 Brier score: 0.0795 Odds Ratio (OR, top 1% vs. Rest): 4.11 [1.97, 8.6]	age, sex, batch PCs 1-4	Cancer PRSweb PheWAS Results: PRSWEB_PHECODE204.12_GWAS-Catalog-r2019-05-03-X204.12_P_5e-08_UKB_20200608
PPM001333	PGS000648 (PRSWEB_PHECODE204.12_GWAS-Catalog-r2019-05-03-X204.12_PT_MGI_20200608)	PSS000561\| European Ancestry\| 756 individuals	PGP000118 \| Fritsche LG et al. Am J Hum Genet (2020)	Reported Trait: Lymphoid leukemia, chronic	OR: 2.124 [1.648, 2.738] β: 0.753 (0.13)	AUROC: 0.696 [0.621, 0.764]	Nagelkerke's Pseudo-R²: 0.102 Brier score: 0.0776 Odds Ratio (OR, top 1% vs. Rest): 12.9 [4.45, 37.6]	age, sex, batch PCs 1-4	Cancer PRSweb PheWAS Results: PRSWEB_PHECODE204.12_GWAS-Catalog-r2019-05-03-X204.12_PT_MGI_20200608
PPM001334	PGS000649 (PRSWEB_PHECODE204.12_GWAS-Catalog-r2019-05-03-X204.12_PT_UKB_20200608)	PSS000581\| European Ancestry\| 2,758 individuals	PGP000118 \| Fritsche LG et al. Am J Hum Genet (2020)	Reported Trait: Lymphoid leukemia, chronic	OR: 1.85 [1.619, 2.114] β: 0.615 (0.0681)	AUROC: 0.672 [0.637, 0.703]	Nagelkerke's Pseudo-R²: 0.0665 Brier score: 0.0796 Odds Ratio (OR, top 1% vs. Rest): 2.52 [1.04, 6.08]	age, sex, batch PCs 1-4	Cancer PRSweb PheWAS Results: PRSWEB_PHECODE204.12_GWAS-Catalog-r2019-05-03-X204.12_PT_UKB_20200608
PPM001335	PGS000650 (PRSWEB_PHECODE204.12_UKBB-SAIGE-HRC-X204.12_PT_MGI_20200608)	PSS000561\| European Ancestry\| 756 individuals	PGP000118 \| Fritsche LG et al. Am J Hum Genet (2020)	Reported Trait: Lymphoid leukemia, chronic	OR: 1.368 [1.097, 1.705] β: 0.313 (0.113)	AUROC: 0.577 [0.511, 0.645]	Nagelkerke's Pseudo-R²: 0.0205 Brier score: 0.0822 Odds Ratio (OR, top 1% vs. Rest): 2.0 [0.308, 13.0]	age, sex, batch PCs 1-4	Cancer PRSweb PheWAS Results: PRSWEB_PHECODE204.12_UKBB-SAIGE-HRC-X204.12_PT_MGI_20200608
PPM001336	PGS000651 (PRSWEB_PHECODE204.12_UKBB-SAIGE-HRC-X204.12_LASSOSUM_MGI_20200608)	PSS000561\| European Ancestry\| 756 individuals	PGP000118 \| Fritsche LG et al. Am J Hum Genet (2020)	Reported Trait: Lymphoid leukemia, chronic	OR: 1.32 [1.041, 1.675] β: 0.278 (0.121)	AUROC: 0.573 [0.503, 0.644]	Nagelkerke's Pseudo-R²: 0.0145 Brier score: 0.0823 Odds Ratio (OR, top 1% vs. Rest): 4.84 [1.23, 19.0]	age, sex, batch PCs 1-4	Cancer PRSweb PheWAS Results: PRSWEB_PHECODE204.12_UKBB-SAIGE-HRC-X204.12_LASSOSUM_MGI_20200608
PPM002493	PGS000874 (PRS41_CLL)	PSS001123\| Multi-ancestry (including European)\| 3,958 individuals	PGP000220 \| Kleinstern G et al. Blood (2018)	Reported Trait: Chronic lymphocytic leukemia	OR: 2.49 [2.28, 2.8]	C-index: 0.79 [0.78, 0.8]	—	Age, sex, study, socioeconomic status (when available)	Odds Ratio (OR, top 20% vs middle 20%) = 3.64 [2.94 - 4.51]
PPM002494	PGS000874 (PRS41_CLL)	PSS001123\| Multi-ancestry (including European)\| 3,958 individuals	PGP000220 \| Kleinstern G et al. Blood (2018)	Reported Trait: Chronic lymphocytic leukemia in individuals with no family history of hematological cancers	OR: 2.46 [2.19, 2.76]	C-index: 0.791 [0.77, 0.81]	—	Age, sex, study, socioeconomic status (when available)	Odds Ratio (OR, top 20% vs middle 20%) = 3.29 [2.49 - 4.35]
PPM002495	PGS000874 (PRS41_CLL)	PSS001123\| Multi-ancestry (including European)\| 3,958 individuals	PGP000220 \| Kleinstern G et al. Blood (2018)	Reported Trait: Chronic lymphocytic leukemia in individuals with a family history of hematological cancers	OR: 3.79 [2.44, 5.87]	C-index: 0.861 [0.82, 0.9]	—	Age, sex, study, socioeconomic status (when available)	Odds Ratio (OR, top 20% vs middle 20%) = 7.58 [2.74 - 21.0]
PPM002496	PGS000874 (PRS41_CLL)	PSS001121\| Ancestry Not Reported\| 218 individuals	PGP000220 \| Kleinstern G et al. Blood (2018)	Reported Trait: Chronic lymphocytic leukemia	OR: 2.44 [1.65, 3.62]	C-index: 0.798 [0.74, 0.85]	—	Age, sex, study, socioeconomic status (when available)	Odds Ratio (OR, top 20% vs middle 20%) = 3.51 [1.39 - 8.86]
PPM002497	PGS000874 (PRS41_CLL)	PSS001122\| Ancestry Not Reported\| 153 individuals	PGP000220 \| Kleinstern G et al. Blood (2018)	Reported Trait: Monoclonal B-cell lymphocytosis	OR: 2.3 [1.44, 3.67]	C-index: 0.773 [0.7, 0.85]	—	Age, sex, study, socioeconomic status (when available)	Odds Ratio (OR, top 20% vs middle 20%) = 4.36 [1.45 - 13.1]
PPM002498	PGS000874 (PRS41_CLL)	PSS001119\| Ancestry Not Reported\| 1,468 individuals	PGP000220 \| Kleinstern G et al. Blood (2018)	Reported Trait: Chronic lymphocytic leukemia	OR: 3.02 [2.49, 3.65]	C-index: 0.779 [0.74, 0.81]	—	Age, sex	Odds Ratio (OR, top 20% vs middle 20%) = 4.47 [2.76 - 7.24]
PPM002499	PGS000874 (PRS41_CLL)	PSS001120\| Ancestry Not Reported\| 1,362 individuals	PGP000220 \| Kleinstern G et al. Blood (2018)	Reported Trait: Monoclonal B-cell lymphocytosis	OR: 2.81 [2.18, 3.61]	C-index: 0.774 [0.73, 0.82]	—	Age, sex	Odds Ratio (OR, top 20% vs middle 20%) = 4.34 [2.21 - 8.50]
PPM002654	PGS000874 (PRS41_CLL)	PSS001173\| European Ancestry\| 3,191 individuals	PGP000234 \| Kleinstern G et al. Leukemia (2021) \|Ext.	Reported Trait: Monoclonal B-cell lymphocytosis	OR: 1.86 [1.67, 2.07]	C-index: 0.72 [0.69, 0.73]	Odds Ratio (OR, top 20% vs middle 20%): 2.38 [1.81, 3.13]	Age, sex	—
PPM002655	PGS000874 (PRS41_CLL)	PSS001173\| European Ancestry\| 3,191 individuals	PGP000234 \| Kleinstern G et al. Leukemia (2021) \|Ext.	Reported Trait: Monoclonal B-cell lymphocytosis	OR: 1.15 [1.13, 1.18]	C-index: 0.72 [0.7, 0.74]	—	Age, sex	An unweighted version of PRS41_CLL was used.
PPM002656	PGS000874 (PRS41_CLL)	PSS001173\| European Ancestry\| 3,191 individuals	PGP000234 \| Kleinstern G et al. Leukemia (2021) \|Ext.	Reported Trait: Low-count monoclonal B-cell lymphocytosis	OR: 1.75 [1.55, 1.98]	C-index: 0.72 [0.7, 0.75]	Odds Ratio (OR, top 20% vs middle 20%): 2.1 [1.53, 2.88]	Age, sex	—
PPM002657	PGS000874 (PRS41_CLL)	PSS001173\| European Ancestry\| 3,191 individuals	PGP000234 \| Kleinstern G et al. Leukemia (2021) \|Ext.	Reported Trait: Low-count monoclonal B-cell lymphocytosis	OR: 1.14 [1.11, 1.17]	C-index: 0.72 [0.7, 0.75]	—	Age, sex	An unweighted version of PRS41_CLL was used.
PPM002658	PGS000874 (PRS41_CLL)	PSS001173\| European Ancestry\| 3,191 individuals	PGP000234 \| Kleinstern G et al. Leukemia (2021) \|Ext.	Reported Trait: High-count monoclonal B-cell lymphocytosis	OR: 2.14 [1.8, 2.56]	C-index: 0.73 [0.69, 0.77]	Odds Ratio (OR, top 20% vs middle 20%): 3.13 [1.97, 4.98]	Age, sex	—
PPM002659	PGS000874 (PRS41_CLL)	PSS001173\| European Ancestry\| 3,191 individuals	PGP000234 \| Kleinstern G et al. Leukemia (2021) \|Ext.	Reported Trait: High-count monoclonal B-cell lymphocytosis	OR: 1.19 [1.14, 1.23]	C-index: 0.725 [0.69, 0.77]	—	Age, sex	An unweighted version of PRS41_CLL was used.
PPM002660	PGS000874 (PRS41_CLL)	PSS001172\| European Ancestry\| 3,327 individuals	PGP000234 \| Kleinstern G et al. Leukemia (2021) \|Ext.	Reported Trait: Chronic lymphocytic leukemia	OR: 2.53 [2.27, 2.81]	C-index: 0.77 [0.75, 0.79]	Odds Ratio (OR, top 20% vs middle 20%): 3.49 [2.70, 4.51]	Age, sex	—
PPM002661	PGS000874 (PRS41_CLL)	PSS001172\| European Ancestry\| 3,327 individuals	PGP000234 \| Kleinstern G et al. Leukemia (2021) \|Ext.	Reported Trait: Chronic lymphocytic leukemia	OR: 1.23 [1.2, 1.26]	C-index: 0.775 [0.76, 0.79]	—	Age, sex	An unweighted version of PRS41_CLL was used.
PPM002662	PGS000874 (PRS41_CLL)	PSS001171\| African Ancestry\| 408 individuals	PGP000234 \| Kleinstern G et al. Leukemia (2021) \|Ext.	Reported Trait: Chronic lymphocytic leukemia	OR: 1.76 [1.34, 2.31]	C-index: 0.62 [0.57, 0.68]	—	Age, sex	—
PPM002663	PGS000874 (PRS41_CLL)	PSS001171\| African Ancestry\| 408 individuals	PGP000234 \| Kleinstern G et al. Leukemia (2021) \|Ext.	Reported Trait: Chronic lymphocytic leukemia	OR: 1.07 [1.01, 1.13]	C-index: 0.57 [0.53, 0.64]	—	Age, sex	An unweighted version of PRS41_CLL was used.
PPM017230	PGS003448 (PRS15_ALL)	PSS010176\| European Ancestry\| 20,134 individuals	PGP000448 \| Berndt SI et al. Leukemia (2022)	Reported Trait: Chronic lymphocytic leukemia	OR: 0.95 [0.9, 1.0]	—	—	—	—
PPM017238	PGS003448 (PRS15_ALL)	PSS010176\| European Ancestry\| 20,134 individuals	PGP000448 \| Berndt SI et al. Leukemia (2022)	Reported Trait: Diffuse large B-cell lymphoma	OR: 0.99 [0.94, 1.04]	—	—	—	—
PPM017246	PGS003448 (PRS15_ALL)	PSS010176\| European Ancestry\| 20,134 individuals	PGP000448 \| Berndt SI et al. Leukemia (2022)	Reported Trait: Follicular lymphoma	OR: 1.01 [0.95, 1.06]	—	—	—	—
PPM017254	PGS003448 (PRS15_ALL)	PSS010176\| European Ancestry\| 20,134 individuals	PGP000448 \| Berndt SI et al. Leukemia (2022)	Reported Trait: Marginal zone lymphoma	OR: 1.02 [0.93, 1.12]	—	—	—	—
PPM017224	PGS003453 (PRS43_CLL)	PSS010176\| European Ancestry\| 20,134 individuals	PGP000448 \| Berndt SI et al. Leukemia (2022)	Reported Trait: Chronic lymphocytic leukemia	OR: 2.17 [2.07, 2.28]	—	—	—	—
PPM017232	PGS003453 (PRS43_CLL)	PSS010176\| European Ancestry\| 20,134 individuals	PGP000448 \| Berndt SI et al. Leukemia (2022)	Reported Trait: Diffuse large B-cell lymphoma	OR: 1.17 [1.12, 1.22]	—	—	—	—
PPM017240	PGS003453 (PRS43_CLL)	PSS010176\| European Ancestry\| 20,134 individuals	PGP000448 \| Berndt SI et al. Leukemia (2022)	Reported Trait: Follicular lymphoma	OR: 1.12 [1.07, 1.17]	—	—	—	—
PPM017248	PGS003453 (PRS43_CLL)	PSS010176\| European Ancestry\| 20,134 individuals	PGP000448 \| Berndt SI et al. Leukemia (2022)	Reported Trait: Marginal zone lymphoma	OR: 1.15 [1.07, 1.24]	—	—	—	—

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
PSS000561	PheCode:204.12; ICD9CM:204.10, 204.11, 204.12; ICD10CM:C91.1, C91.10, C91.11, C91.12	—	756 individuals [ 69 cases , 687 controls ]	—	European	—	MGI	—
PSS010176	—	—	20,134 individuals [ 10,629 cases , 9,505 controls ]	—	European	—	NR	Inter- Lymph Consortium
PSS001119	Cases were individuals with chronic lymphocytic leukemia.	—	1,468 individuals [ 201 cases , 1,267 controls ]	—	Not reported	—	MAYO	Cases were obtained from the Genetic Epidemiology of CLL (GEC) Consortium
PSS001120	Cases were individuals with monoclonal B-cell lymphocytosis.	—	1,362 individuals [ 95 cases , 1,267 controls ]	—	Not reported	—	MAYO	Cases were obtained from the Genetic Epidemiology of CLL (GEC) Consortium
PSS001121	Cases were individuals with chronic lymphocytic leukemia.	—	218 individuals [ 135 cases , 83 controls ]	—	Not reported	—	NR	Cases and controls were obtained from the Genetic Epidemiology of CLL (GEC) Consortium
PSS001122	Cases were individuals with monoclonal B-cell lymphocytosis.	—	153 individuals [ 95 cases , 58 controls ]	—	Not reported	—	NR	Cases and controls were obtained from the Genetic Epidemiology of CLL (GEC) Consortium
PSS001123	Cases were individuals with chronic lymphocytic leukemia (CLL). Of the 3,958 individuals, 242 had a family history (FH) of hematological cancers, whereas 2,409 had no FH of hematological cancers. Of the 242 individuals with a FH, 112 had CLL. Of the 2,409 without a FH, 783 had CLL. FH was defined as a person self-reporting any hematological maligcancy among first-degree relatives. Hematological malignancies were defined as any non-Hodgkin lymphoma, Hodgkin lymphoma, multiple myeloma, or leukemia.	—	3,958 individuals [ 1,499 cases , 2,459 controls ] , 60.81 % Male samples	—	European, NR	—	8 cohorts BC ,ENGELA ,EpiLymph ,MAYO ,NCI-SEER ,NSW ,SCALE ,UCSF2	Possible significant sample overlap between this dataset and the dataset used to source PRS41_CLL.
PSS001171	Cases were individuals with chronic lymphocytic leukemia (CLL). CLL diagnoses were made based on the 1996 NCI working group criteria and updated to the 2008 International Workshop CLL criteria wherever possible.	—	408 individuals [ 173 cases , 235 controls ] , 66.91 % Male samples	—	African American or Afro-Caribbean	—	MAYO	Possibly significant sample overlap between this dataset and the dataset used to source PRS41_CLL. Additional cases were obtained from Duke University and Cornell
PSS001172	Cases were individuals with chronic lymphocytic leukemia (CLL). CLL diagnoses were made based on the 1996 NCI working group criteria and updated to the 2008 International Workshop CLL criteria wherever possible.	—	3,327 individuals [ 696 cases , 2,631 controls ] , 45.36 % Male samples	—	European	—	MAYO	Possibly significant sample overlap between this dataset and the dataset used to source PRS41_CLL. Additional cases were obtained from Duke University and Cornell
PSS001173	Cases were individuals with monoclonal B-cell lymphocytosis (MBL) from two Mayo Clincs.Within the Mayo Clinic Biobank, MBL was screened for using a highly sensitive, 8-color (CD38, CD45, Kappa, Lambda, CD19, CD23, CD5 and CD20) flow-cytometry assay with the capacity to detect clonal B-cell counts to the 0.005% level (1/20,000 events), and for each individual, 500,000 PBMC events were typically captured. Of the 560 MBL cases, 396 had low-count MBL (LC-MBL) and 164 had high-count MBL (HC-MBL). Wiithin the Mayo Clinic Biobank only a subset of participants had a complete blood count. therefore the percent of clonal B-cells out of total B-cells was used to categorize participants as LC- and HC-MBL. Based on prior evidence, those MBL individuals with a percent clonal B-cell <85% were defined as LC-MBL and those with percent clonal B-cells ≥85% as HC-MBL. Within the Mayo Clinic Chronic lymphocytic leukemia (CLL) Resource, MBL was classified by LC-MBL or HC-MBL according to the B-cell clone size of below or above 0.5 × 109/L threshold, respectively.	—	3,191 individuals [ 560 cases , 2,631 controls ] , 42.28 % Male samples	—	European	—	MAYO	Possibly significant sample overlap between this dataset and the dataset used to source PRS41_CLL.
PSS000581	PheCode:204.12; ICD9:204.1; ICD10:C91.1	—	2,758 individuals [ 249 cases , 2,509 controls ]	—	European	—	UKB	—