Trait: hematologic disease

Experimental Factor Ontology (EFO) Information
Identifier EFO_0005803
Description A disease involving the hematopoietic system.
Trait category
Other disease
Synonyms 31 synonyms
  • Hematologic Diseases
  • blood disease
  • blood disorder
  • blood dyscrasia
  • disease of haematopoietic system
  • disease of hematopoietic system
  • disease of the blood and blood-forming organs
  • disease or disorder of haematopoietic system
  • disease or disorder of hematopoietic system
  • disorder of haematopoietic system
  • disorder of hematopoietic system
  • haematological disease
  • haematological disorder
  • haematological disorders and malignancies
  • haematological system disease
  • haematological system disorder
  • haematopoietic disease
  • haematopoietic system disease
  • haematopoietic system disease or disorder
  • hematologic and lymphocytic disorder
  • hematologic disease
  • hematologic disorder
  • hematological disease
  • hematological disorder
  • hematological disorders and malignancies
  • hematological system disease
  • hematological system disorder
  • hematopoietic disease
  • hematopoietic system disease
  • hematopoietic system disease or disorder
  • rare hematologic disease
Mapped terms 17 mapped terms
  • DOID:74
  • GTR:AN1320635
  • ICD10:D75
  • ICD10CM:D50-D89
  • ICD9:280-289.99
  • ICD9:289.8
  • ICD9:289.9
  • MEDGEN:5483
  • MESH:D006402
  • MONDO:0005570
  • MeSH:D006402
  • NANDO:1100006
  • NANDO:2100175
  • NCIT:C26323
  • Orphanet:97992
  • SCTID:414022008
  • UMLS:C0018939
Child trait(s) 15 child traits

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:
Display options:
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
Note: This table shows all PGS for "hematologic disease" and any child terms of this trait in the EFO hierarchy by default.
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)
PGS000077
(CC_LL)
 PGP000050 |
Graff RE et al. Nat Commun (2021)
 Lymphocytic leukemia lymphoid leukemia 75
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000077/ScoringFiles/PGS000077.txt.gz
PGS000080
(CC_NHL)
 PGP000050 |
Graff RE et al. Nat Commun (2021)
 Non-Hodgkin's lymphoma non-Hodgkins lymphoma 19
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000080/ScoringFiles/PGS000080.txt.gz
PGS000637
(PRSWEB_PHECODE201_20001-1052_PRS-CS_MGI_20200608)
 PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
 Hodgkin's disease Hodgkins lymphoma 1,047,511
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000637/ScoringFiles/PGS000637.txt.gz
PGS000638
(PRSWEB_PHECODE201_GWAS-Catalog-r2019-05-03-X201_P_5e-08_MGI_20200608)
 PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
 Hodgkin's disease Hodgkins lymphoma 16
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000638/ScoringFiles/PGS000638.txt.gz
PGS000639
(PRSWEB_PHECODE201_GWAS-Catalog-r2019-05-03-X201_PT_MGI_20200608)
 PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
 Hodgkin's disease Hodgkins lymphoma 20
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000639/ScoringFiles/PGS000639.txt.gz
PGS000640
(PRSWEB_PHECODE201_UKBB-SAIGE-HRC-X201_LASSOSUM_MGI_20200608)
 PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
 Hodgkin's disease Hodgkins lymphoma 1,119,335
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000640/ScoringFiles/PGS000640.txt.gz
PGS000641
(PRSWEB_PHECODE202.2_GWAS-Catalog-r2019-05-03-X202.2_P_5e-08_UKB_20200608)
 PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
 Non-Hodgkin's lymphoma non-Hodgkins lymphoma 12
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000641/ScoringFiles/PGS000641.txt.gz
PGS000642
(PRSWEB_PHECODE202.2_GWAS-Catalog-r2019-05-03-X202.2_PT_UKB_20200608)
 PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
 Non-Hodgkin's lymphoma non-Hodgkins lymphoma 10
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000642/ScoringFiles/PGS000642.txt.gz
PGS000643
(PRSWEB_PHECODE202.21_C-FOLLICULAR-LYMPHOMA_PRS-CS_MGI_20200608)
 PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
 Nodular lymphoma follicular lymphoma 1,048,780
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000643/ScoringFiles/PGS000643.txt.gz
PGS000644
(PRSWEB_PHECODE202.21_C-FOLLICULAR-LYMPHOMA_LASSOSUM_MGI_20200608)
 PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
 Nodular lymphoma follicular lymphoma 2,209,179
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000644/ScoringFiles/PGS000644.txt.gz
PGS000645
(PRSWEB_PHECODE204.1_C-LYMPHOID-LEUKAEMIA_PT_MGI_20200608)
 PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
 Lymphoid leukemia lymphoid leukemia 6
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000645/ScoringFiles/PGS000645.txt.gz
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
PGS000652
(PRSWEB_PHECODE204.4_C90_PT_MGI_20200608)
 PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
 Multiple myeloma multiple myeloma 27
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000652/ScoringFiles/PGS000652.txt.gz
PGS000653
(PRSWEB_PHECODE204.4_GWAS-Catalog-r2019-05-03-X204.4_P_5e-08_UKB_20200608)
 PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
 Multiple myeloma multiple myeloma 22
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000653/ScoringFiles/PGS000653.txt.gz
PGS000654
(PRSWEB_PHECODE204.4_GWAS-Catalog-r2019-05-03-X204.4_PT_UKB_20200608)
 PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
 Multiple myeloma multiple myeloma 21
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000654/ScoringFiles/PGS000654.txt.gz
PGS000788
(CC_LL_IV)
 PGP000186 |
Kachuri L et al. Nat Commun (2020)
 Lymphocytic leukemia lymphoid leukemia 75
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000788/ScoringFiles/PGS000788.txt.gz
PGS000791
(CC_NHL_IV)
 PGP000186 |
Kachuri L et al. Nat Commun (2020)
 Non-Hodgkin's lymphoma non-Hodgkins lymphoma 19
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000791/ScoringFiles/PGS000791.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
PGS001033
(GBE_HC624)
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Other coagulation defects (time-to-event) blood coagulation disease 1
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001033/ScoringFiles/PGS001033.txt.gz
PGS001136
(GBE_HC413)
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Hematologic disease, genetic hematologic disease 30
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001136/ScoringFiles/PGS001136.txt.gz
PGS001305
(GBE_HC608)
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Vitamin B12 deficiency induced anemia (time-to-event) vitamin B12 deficiency,
anemia		 121
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001305/ScoringFiles/PGS001305.txt.gz
PGS001810
(portability-PLR_200.1)
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Polycythemia vera polycythemia vera 67
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001810/ScoringFiles/PGS001810.txt.gz
PGS001826
(portability-PLR_286.12)
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Congenital deficiency of other clotting factors (including factor VII) congenital vitamin K-dependent coagulation factors deficiency 45
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001826/ScoringFiles/PGS001826.txt.gz
PGS001868
(portability-PLR_654.2)
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Rhesus isoimmunization in pregnancy Rh isoimmunization 30
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001868/ScoringFiles/PGS001868.txt.gz
PGS002034
(portability-ldpred2_286.12)
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Congenital deficiency of other clotting factors (including factor VII) congenital vitamin K-dependent coagulation factors deficiency 32,552
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002034/ScoringFiles/PGS002034.txt.gz
PGS002080
(portability-ldpred2_654.2)
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Rhesus isoimmunization in pregnancy Rh isoimmunization 32,414
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002080/ScoringFiles/PGS002080.txt.gz
PGS002281
(PRS23_MM)
 PGP000310 |
Canzian F et al. Eur J Hum Genet (2021)
 Multiple myeloma multiple myeloma 23
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002281/ScoringFiles/PGS002281.txt.gz
PGS002303
(PRS9_DLBCL)
 PGP000328 |
Choi J et al. Int J Cancer (2020)
 Diffuse large B-cell lymphoma diffuse large B-cell lymphoma 9
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002303/ScoringFiles/PGS002303.txt.gz
PGS002304
(PRS6_FL)
 PGP000328 |
Choi J et al. Int J Cancer (2020)
 Follicular lymphoma follicular lymphoma 6
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002304/ScoringFiles/PGS002304.txt.gz
PGS002305
(PRS43_CLL)
 PGP000328 |
Choi J et al. Int J Cancer (2020)
 Chronic lymphoid leukemia lymphoid leukemia 43
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002305/ScoringFiles/PGS002305.txt.gz
PGS002306
(PRS23_MM)
 PGP000328 |
Choi J et al. Int J Cancer (2020)
 Multiple myeloma multiple myeloma 23
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002306/ScoringFiles/PGS002306.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
PGS003449
(PRS21_HL)
 PGP000448 |
Berndt SI et al. Leukemia (2022)
 Hodgkin lymphoma Hodgkins lymphoma 21
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003449/ScoringFiles/PGS003449.txt.gz
PGS003450
(PRS24_MM)
 PGP000448 |
Berndt SI et al. Leukemia (2022)
 Multiple myeloma multiple myeloma 24
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003450/ScoringFiles/PGS003450.txt.gz
PGS003451
(PRS2_MZL)
 PGP000448 |
Berndt SI et al. Leukemia (2022)
 Marginal zone lymphoma marginal zone B-cell lymphoma 2
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003451/ScoringFiles/PGS003451.txt.gz
PGS003452
(PRS2_WM)
 PGP000448 |
Berndt SI et al. Leukemia (2022)
 Waldenström macroglobulinemia Waldenstrom macroglobulinemia 2
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003452/ScoringFiles/PGS003452.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
PGS003454
(PRS5_DLBCL)
 PGP000448 |
Berndt SI et al. Leukemia (2022)
 Diffuse large B-cell lymphoma diffuse large B-cell lymphoma 5
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003454/ScoringFiles/PGS003454.txt.gz
PGS003455
(PRS7_FL)
 PGP000448 |
Berndt SI et al. Leukemia (2022)
 Follicular lymphoma follicular lymphoma 7
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003455/ScoringFiles/PGS003455.txt.gz
PGS004248
(PRS20_nhl)
 PGP000542 |
Kim ES et al. NPJ Precis Oncol (2023)
 Non-Hodgkin's lymphoma non-Hodgkins lymphoma 20
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004248/ScoringFiles/PGS004248.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
PPM000197 PGS000077
(CC_LL)
 PSS000116|
European Ancestry|
411,207 individuals
 PGP000050 |
Graff RE et al. Nat Commun (2021)
 Reported Trait: Lymphocytic leukemia OR: 1.42 [1.33, 1.51] — — Genotyping reagent kit (GERA cohort only), genotyping array (UK Biobank only), age, sex, 10 PCs. Results from meta-analysis of GERA and UKB
PPM002043 PGS000077
(CC_LL)
 PSS001016|
European Ancestry|
391,338 individuals
 PGP000186 |
Kachuri L et al. Nat Commun (2020)
|Ext.		 Reported Trait: Incident Lymphocytic Leukemia HR: 1.45 [1.31, 1.61] AUROC: 0.719
C-index: 0.735 (0.016)		 — Age at assessment, sex, genotyping array, PCs(1-15) C-index calculated as a weighted average between 1 and 5 years and AUC at 5 years.
PPM017175 PGS000077
(CC_LL)
 PSS010147|
European Ancestry|
246 individuals
 PGP000443 |
Byrne S et al. Int J Epidemiol (2023)
|Ext.		 Reported Trait: Lymphocytic leukemia HR: 1.5 [1.33, 1.69] — — age at baseline, sex (where relevant), assessment centre, 40 principal components of ancestries (PCs), Townsend Index, education, birth location, income, lifestyle index —
PPM000200 PGS000080
(CC_NHL)
 PSS000119|
European Ancestry|
412,765 individuals
 PGP000050 |
Graff RE et al. Nat Commun (2021)
 Reported Trait: Non-Hodgkin's lymphoma OR: 1.25 [1.2, 1.3] — — Genotyping reagent kit (GERA cohort only), genotyping array (UK Biobank only), age, sex, 10 PCs. Results from meta-analysis of GERA and UKB
PPM002046 PGS000080
(CC_NHL)
 PSS001019|
European Ancestry|
391,968 individuals
 PGP000186 |
Kachuri L et al. Nat Commun (2020)
|Ext.		 Reported Trait: Incident non-hodgkin's lymphoma HR: 1.16 [1.09, 1.24] AUROC: 0.677
C-index: 0.676 (0.01)		 — Age at assessment, sex, genotyping array, PCs(1-15) C-index calculated as a weighted average between 1 and 5 years and AUC at 5 years.
PPM017168 PGS000080
(CC_NHL)
 PSS010148|
European Ancestry|
721 individuals
 PGP000443 |
Byrne S et al. Int J Epidemiol (2023)
|Ext.		 Reported Trait: Non-Hodgkin's lymphoma HR: 1.19 [1.11, 1.28] — — age at baseline, sex (where relevant), assessment centre, 40 principal components of ancestries (PCs), Townsend Index, education, birth location, income, lifestyle index, additional cancer-specific covariates —
PPM001322 PGS000637
(PRSWEB_PHECODE201_20001-1052_PRS-CS_MGI_20200608)
 PSS000559|
European Ancestry|
775 individuals
 PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
 Reported Trait: Hodgkin's disease OR: 1.3 [1.023, 1.651]
β: 0.262 (0.122)		 AUROC: 0.574 [0.501, 0.642] Nagelkerke's Pseudo-R²: 0.013
Brier score: 0.0826
Odds Ratio (OR, top 1% vs. Rest): 1.67 [0.264, 10.5]		 age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE201_20001-1052_PRS-CS_MGI_20200608
PPM001323 PGS000638
(PRSWEB_PHECODE201_GWAS-Catalog-r2019-05-03-X201_P_5e-08_MGI_20200608)
 PSS000559|
European Ancestry|
775 individuals
 PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
 Reported Trait: Hodgkin's disease OR: 1.377 [1.08, 1.755]
β: 0.32 (0.124)		 AUROC: 0.601 [0.535, 0.671] Nagelkerke's Pseudo-R²: 0.0193
Brier score: 0.0824
Odds Ratio (OR, top 1% vs. Rest): 1.62 [0.258, 10.1]		 age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE201_GWAS-Catalog-r2019-05-03-X201_P_5e-08_MGI_20200608
PPM001324 PGS000639
(PRSWEB_PHECODE201_GWAS-Catalog-r2019-05-03-X201_PT_MGI_20200608)
 PSS000559|
European Ancestry|
775 individuals
 PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
 Reported Trait: Hodgkin's disease OR: 1.476 [1.154, 1.889]
β: 0.39 (0.126)		 AUROC: 0.62 [0.559, 0.688] Nagelkerke's Pseudo-R²: 0.0276
Brier score: 0.0821
Odds Ratio (OR, top 1% vs. Rest): 2.64 [0.572, 12.2]		 age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE201_GWAS-Catalog-r2019-05-03-X201_PT_MGI_20200608
PPM001325 PGS000640
(PRSWEB_PHECODE201_UKBB-SAIGE-HRC-X201_LASSOSUM_MGI_20200608)
 PSS000559|
European Ancestry|
775 individuals
 PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
 Reported Trait: Hodgkin's disease OR: 1.292 [1.011, 1.651]
β: 0.256 (0.125)		 AUROC: 0.569 [0.501, 0.634] Nagelkerke's Pseudo-R²: 0.0109
Brier score: 0.0828
Odds Ratio (OR, top 1% vs. Rest): 1.64 [0.261, 10.3]		 age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE201_UKBB-SAIGE-HRC-X201_LASSOSUM_MGI_20200608
PPM001326 PGS000641
(PRSWEB_PHECODE202.2_GWAS-Catalog-r2019-05-03-X202.2_P_5e-08_UKB_20200608)
 PSS000580|
European Ancestry|
9,952 individuals
 PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
 Reported Trait: Non-Hodgkins lymphoma OR: 1.211 [1.133, 1.294]
β: 0.191 (0.034)		 AUROC: 0.541 [0.521, 0.561] Nagelkerke's Pseudo-R²: 0.00682
Brier score: 0.0821
Odds Ratio (OR, top 1% vs. Rest): 2.05 [1.24, 3.4]		 age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE202.2_GWAS-Catalog-r2019-05-03-X202.2_P_5e-08_UKB_20200608
PPM001327 PGS000642
(PRSWEB_PHECODE202.2_GWAS-Catalog-r2019-05-03-X202.2_PT_UKB_20200608)
 PSS000580|
European Ancestry|
9,952 individuals
 PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
 Reported Trait: Non-Hodgkins lymphoma OR: 1.239 [1.16, 1.324]
β: 0.214 (0.0337)		 AUROC: 0.547 [0.527, 0.566] Nagelkerke's Pseudo-R²: 0.0087
Brier score: 0.082
Odds Ratio (OR, top 1% vs. Rest): 2.05 [1.24, 3.4]		 age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE202.2_GWAS-Catalog-r2019-05-03-X202.2_PT_UKB_20200608
PPM001328 PGS000643
(PRSWEB_PHECODE202.21_C-FOLLICULAR-LYMPHOMA_PRS-CS_MGI_20200608)
 PSS000560|
European Ancestry|
3,256 individuals
 PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
 Reported Trait: Nodular lymphoma OR: 1.133 [1.005, 1.277]
β: 0.125 (0.061)		 AUROC: 0.532 [0.497, 0.568] Nagelkerke's Pseudo-R²: 0.00282
Brier score: 0.0825
Odds Ratio (OR, top 1% vs. Rest): 2.49 [1.1, 5.65]		 age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE202.21_C-FOLLICULAR-LYMPHOMA_PRS-CS_MGI_20200608
PPM001329 PGS000644
(PRSWEB_PHECODE202.21_C-FOLLICULAR-LYMPHOMA_LASSOSUM_MGI_20200608)
 PSS000560|
European Ancestry|
3,256 individuals
 PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
 Reported Trait: Nodular lymphoma OR: 1.149 [1.021, 1.294]
β: 0.139 (0.0606)		 AUROC: 0.538 [0.504, 0.573] Nagelkerke's Pseudo-R²: 0.00349
Brier score: 0.0825
Odds Ratio (OR, top 1% vs. Rest): 1.48 [0.538, 4.05]		 age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE202.21_C-FOLLICULAR-LYMPHOMA_LASSOSUM_MGI_20200608
PPM001330 PGS000645
(PRSWEB_PHECODE204.1_C-LYMPHOID-LEUKAEMIA_PT_MGI_20200608)
 PSS000562|
European Ancestry|
957 individuals
 PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
 Reported Trait: Lymphoid leukemia OR: 1.358 [1.113, 1.657]
β: 0.306 (0.102)		 AUROC: 0.578 [0.517, 0.642] Nagelkerke's Pseudo-R²: 0.0193
Brier score: 0.0819
Odds Ratio (OR, top 1% vs. Rest): 3.69 [1.01, 13.4]		 age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE204.1_C-LYMPHOID-LEUKAEMIA_PT_MGI_20200608
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
PPM001337 PGS000652
(PRSWEB_PHECODE204.4_C90_PT_MGI_20200608)
 PSS000563|
European Ancestry|
908 individuals
 PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
 Reported Trait: Multiple myeloma OR: 1.24 [1.005, 1.529]
β: 0.215 (0.107)		 AUROC: 0.547 [0.479, 0.613] Nagelkerke's Pseudo-R²: 0.00945
Brier score: 0.0823
Odds Ratio (OR, top 1% vs. Rest): 2.6 [0.593, 11.4]		 age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE204.4_C90_PT_MGI_20200608
PPM001338 PGS000653
(PRSWEB_PHECODE204.4_GWAS-Catalog-r2019-05-03-X204.4_P_5e-08_UKB_20200608)
 PSS000582|
European Ancestry|
2,738 individuals
 PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
 Reported Trait: Multiple myeloma OR: 1.327 [1.165, 1.511]
β: 0.283 (0.0663)		 AUROC: 0.577 [0.537, 0.617] Nagelkerke's Pseudo-R²: 0.0145
Brier score: 0.0818
Odds Ratio (OR, top 1% vs. Rest): 2.2 [0.855, 5.66]		 age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE204.4_GWAS-Catalog-r2019-05-03-X204.4_P_5e-08_UKB_20200608
PPM001339 PGS000654
(PRSWEB_PHECODE204.4_GWAS-Catalog-r2019-05-03-X204.4_PT_UKB_20200608)
 PSS000582|
European Ancestry|
2,738 individuals
 PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
 Reported Trait: Multiple myeloma OR: 1.316 [1.156, 1.499]
β: 0.275 (0.0662)		 AUROC: 0.576 [0.536, 0.616] Nagelkerke's Pseudo-R²: 0.0137
Brier score: 0.0818
Odds Ratio (OR, top 1% vs. Rest): 2.2 [0.854, 5.66]		 age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE204.4_GWAS-Catalog-r2019-05-03-X204.4_PT_UKB_20200608
PPM002059 PGS000788
(CC_LL_IV)
 PSS001016|
European Ancestry|
391,338 individuals
 PGP000186 |
Kachuri L et al. Nat Commun (2020)
 Reported Trait: Incident Lymphocytic Leukemia HR: 1.7 [1.53, 1.88] AUROC: 0.738
C-index: 0.756 (0.015)		 R²: 0.415 Age at assessment, sex, genotyping array, PCs(1-15) C-index calculated as a weighted average between 1 and 5 years and AUC at 5 years.
PPM002062 PGS000791
(CC_NHL_IV)
 PSS001019|
European Ancestry|
391,968 individuals
 PGP000186 |
Kachuri L et al. Nat Commun (2020)
 Reported Trait: Incident non-hodgkin's lymphoma HR: 1.15 [1.08, 1.22] AUROC: 0.677
C-index: 0.674 (0.01)		 R²: 0.227 Age at assessment, sex, genotyping array, PCs(1-15) C-index calculated as a weighted average between 1 and 5 years and AUC at 5 years.
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.
PPM007928 PGS001033
(GBE_HC624)
 PSS004546|
African Ancestry|
6,497 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE other coagulation defects — AUROC: 0.68816 [0.60114, 0.77518] R²: 0.03983
Incremental AUROC (full-covars): -0.00134
PGS R2 (no covariates): 0.00067
PGS AUROC (no covariates): 0.49799 [0.49722, 0.49876]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007929 PGS001033
(GBE_HC624)
 PSS004547|
East Asian Ancestry|
1,704 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE other coagulation defects — AUROC: 0.8546 [0.65205, 1.0] R²: 0.119
Incremental AUROC (full-covars): 0.0
PGS R2 (no covariates): 8e-05
PGS AUROC (no covariates): 0.49971 [0.49913, 0.50028]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007930 PGS001033
(GBE_HC624)
 PSS004548|
European Ancestry|
24,905 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE other coagulation defects — AUROC: 0.64742 [0.59655, 0.69828] R²: 0.03199
Incremental AUROC (full-covars): 0.06677
PGS R2 (no covariates): 0.0303
PGS AUROC (no covariates): 0.58367 [0.54735, 0.61999]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007931 PGS001033
(GBE_HC624)
 PSS004549|
South Asian Ancestry|
7,831 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE other coagulation defects — AUROC: 0.66881 [0.55798, 0.77963] R²: 0.02584
Incremental AUROC (full-covars): 0.02341
PGS R2 (no covariates): 0.00994
PGS AUROC (no covariates): 0.54143 [0.46669, 0.61618]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007932 PGS001033
(GBE_HC624)
 PSS004550|
European Ancestry|
67,425 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE other coagulation defects — AUROC: 0.65623 [0.61832, 0.69414] R²: 0.05179
Incremental AUROC (full-covars): 0.12049
PGS R2 (no covariates): 0.05781
PGS AUROC (no covariates): 0.63402 [0.60616, 0.66189]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008408 PGS001136
(GBE_HC413)
 PSS004481|
African Ancestry|
6,497 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Genetic haematological disorder — AUROC: 0.70006 [0.42128, 0.97885] R²: 0.03928
Incremental AUROC (full-covars): -0.02126
PGS R2 (no covariates): 0.01794
PGS AUROC (no covariates): 0.33706 [0.08609, 0.58803]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008409 PGS001136
(GBE_HC413)
 PSS004483|
European Ancestry|
24,905 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Genetic haematological disorder — AUROC: 0.74771 [0.64556, 0.84987] R²: 0.04759
Incremental AUROC (full-covars): 0.0501
PGS R2 (no covariates): 0.01517
PGS AUROC (no covariates): 0.6101 [0.48056, 0.73964]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008410 PGS001136
(GBE_HC413)
 PSS004484|
South Asian Ancestry|
7,831 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Genetic haematological disorder — AUROC: 0.86122 [0.58992, 1.0] R²: 0.17517
Incremental AUROC (full-covars): -0.03046
PGS R2 (no covariates): 0.0343
PGS AUROC (no covariates): 0.45357 [0.0, 1.0]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008411 PGS001136
(GBE_HC413)
 PSS004485|
European Ancestry|
67,425 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Genetic haematological disorder — AUROC: 0.67815 [0.59919, 0.75712] R²: 0.04564
Incremental AUROC (full-covars): 0.21126
PGS R2 (no covariates): 0.0569
PGS AUROC (no covariates): 0.69867 [0.61574, 0.78161]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009020 PGS001305
(GBE_HC608)
 PSS004536|
African Ancestry|
6,497 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE vitamin b12 deficiency anaemia — AUROC: 0.66063 [0.54547, 0.77579] R²: 0.02699
Incremental AUROC (full-covars): 0.01762
PGS R2 (no covariates): 0.00536
PGS AUROC (no covariates): 0.5839 [0.43974, 0.72805]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009021 PGS001305
(GBE_HC608)
 PSS004538|
European Ancestry|
24,905 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE vitamin b12 deficiency anaemia — AUROC: 0.65118 [0.60827, 0.69409] R²: 0.02729
Incremental AUROC (full-covars): 0.02555
PGS R2 (no covariates): 0.00865
PGS AUROC (no covariates): 0.59612 [0.5552, 0.63704]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009022 PGS001305
(GBE_HC608)
 PSS004539|
South Asian Ancestry|
7,831 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE vitamin b12 deficiency anaemia — AUROC: 0.72387 [0.6834, 0.76434] R²: 0.06747
Incremental AUROC (full-covars): 0.01252
PGS R2 (no covariates): 0.00966
PGS AUROC (no covariates): 0.57469 [0.52685, 0.62252]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009023 PGS001305
(GBE_HC608)
 PSS004540|
European Ancestry|
67,425 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE vitamin b12 deficiency anaemia — AUROC: 0.64482 [0.61972, 0.66993] R²: 0.02374
Incremental AUROC (full-covars): 0.02212
PGS R2 (no covariates): 0.0068
PGS AUROC (no covariates): 0.57972 [0.55331, 0.60612]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009382 PGS001810
(portability-PLR_200.1)
 PSS009280|
European Ancestry|
19,539 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Polycythemia vera — — Partial Correlation (partial-r): 0.017 [0.003, 0.031] sex, age, birth date, deprivation index, 16 PCs —
PPM009383 PGS001810
(portability-PLR_200.1)
 PSS009054|
European Ancestry|
4,052 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Polycythemia vera — — Partial Correlation (partial-r): 0.0195 [-0.0114, 0.0503] sex, age, birth date, deprivation index, 16 PCs —
PPM009384 PGS001810
(portability-PLR_200.1)
 PSS008608|
European Ancestry|
6,489 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Polycythemia vera — — Partial Correlation (partial-r): 0.026 [0.0016, 0.0503] sex, age, birth date, deprivation index, 16 PCs —
PPM009385 PGS001810
(portability-PLR_200.1)
 PSS008384|
Greater Middle Eastern Ancestry|
1,178 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Polycythemia vera — — Partial Correlation (partial-r): -0.0173 [-0.0748, 0.0404] sex, age, birth date, deprivation index, 16 PCs —
PPM009386 PGS001810
(portability-PLR_200.1)
 PSS008162|
South Asian Ancestry|
6,171 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Polycythemia vera — — Partial Correlation (partial-r): -0.0038 [-0.0288, 0.0212] sex, age, birth date, deprivation index, 16 PCs —
PPM009387 PGS001810
(portability-PLR_200.1)
 PSS007949|
East Asian Ancestry|
1,787 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Polycythemia vera — — Partial Correlation (partial-r): -0.0072 [-0.0538, 0.0395] sex, age, birth date, deprivation index, 16 PCs —
PPM009505 PGS001826
(portability-PLR_286.12)
 PSS009296|
European Ancestry|
19,864 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Congenital deficiency of other clotting factors (including factor VII) — — Partial Correlation (partial-r): 0.0562 [0.0424, 0.0701] sex, age, birth date, deprivation index, 16 PCs —
PPM009506 PGS001826
(portability-PLR_286.12)
 PSS009070|
European Ancestry|
4,108 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Congenital deficiency of other clotting factors (including factor VII) — — Partial Correlation (partial-r): 0.0487 [0.018, 0.0792] sex, age, birth date, deprivation index, 16 PCs —
PPM009507 PGS001826
(portability-PLR_286.12)
 PSS008624|
European Ancestry|
6,613 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Congenital deficiency of other clotting factors (including factor VII) — — Partial Correlation (partial-r): 0.0377 [0.0136, 0.0618] sex, age, birth date, deprivation index, 16 PCs —
PPM009508 PGS001826
(portability-PLR_286.12)
 PSS008178|
South Asian Ancestry|
6,272 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Congenital deficiency of other clotting factors (including factor VII) — — Partial Correlation (partial-r): 0.0354 [0.0106, 0.0601] sex, age, birth date, deprivation index, 16 PCs —
PPM009833 PGS001868
(portability-PLR_654.2)
 PSS009344|
European Ancestry|
10,686 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Rhesus isoimmunization in pregnancy — — Partial Correlation (partial-r): 0.0509 [0.0319, 0.0698] sex, age, birth date, deprivation index, 16 PCs —
PPM009834 PGS001868
(portability-PLR_654.2)
 PSS009118|
European Ancestry|
2,539 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Rhesus isoimmunization in pregnancy — — Partial Correlation (partial-r): 0.0603 [0.0213, 0.0991] sex, age, birth date, deprivation index, 16 PCs —
PPM009835 PGS001868
(portability-PLR_654.2)
 PSS008672|
European Ancestry|
3,602 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Rhesus isoimmunization in pregnancy — — Partial Correlation (partial-r): 0.0696 [0.0369, 0.1021] sex, age, birth date, deprivation index, 16 PCs —
PPM009836 PGS001868
(portability-PLR_654.2)
 PSS008446|
Greater Middle Eastern Ancestry|
470 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Rhesus isoimmunization in pregnancy — — Partial Correlation (partial-r): 0.0386 [-0.054, 0.1304] sex, age, birth date, deprivation index, 16 PCs —
PPM009838 PGS001868
(portability-PLR_654.2)
 PSS008007|
East Asian Ancestry|
1,173 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Rhesus isoimmunization in pregnancy — — Partial Correlation (partial-r): 0.052 [-0.0057, 0.1094] sex, age, birth date, deprivation index, 16 PCs —
PPM009839 PGS001868
(portability-PLR_654.2)
 PSS007791|
African Ancestry|
1,548 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Rhesus isoimmunization in pregnancy — — Partial Correlation (partial-r): -0.0385 [-0.0885, 0.0116] sex, age, birth date, deprivation index, 16 PCs —
PPM009840 PGS001868
(portability-PLR_654.2)
 PSS008895|
African Ancestry|
2,068 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Rhesus isoimmunization in pregnancy — — Partial Correlation (partial-r): 0.0144 [-0.0289, 0.0577] sex, age, birth date, deprivation index, 16 PCs —
PPM009837 PGS001868
(portability-PLR_654.2)
 PSS008226|
South Asian Ancestry|
2,815 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Rhesus isoimmunization in pregnancy — — Partial Correlation (partial-r): 0.0639 [0.0269, 0.1008] sex, age, birth date, deprivation index, 16 PCs —
PPM011143 PGS002034
(portability-ldpred2_286.12)
 PSS009296|
European Ancestry|
19,864 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Congenital deficiency of other clotting factors (including factor VII) — — Partial Correlation (partial-r): 0.0563 [0.0424, 0.0702] sex, age, birth date, deprivation index, 16 PCs —
PPM011144 PGS002034
(portability-ldpred2_286.12)
 PSS009070|
European Ancestry|
4,108 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Congenital deficiency of other clotting factors (including factor VII) — — Partial Correlation (partial-r): 0.0533 [0.0227, 0.0838] sex, age, birth date, deprivation index, 16 PCs —
PPM011145 PGS002034
(portability-ldpred2_286.12)
 PSS008624|
European Ancestry|
6,613 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Congenital deficiency of other clotting factors (including factor VII) — — Partial Correlation (partial-r): 0.046 [0.0219, 0.07] sex, age, birth date, deprivation index, 16 PCs —
PPM011146 PGS002034
(portability-ldpred2_286.12)
 PSS008178|
South Asian Ancestry|
6,272 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Congenital deficiency of other clotting factors (including factor VII) — — Partial Correlation (partial-r): 0.0358 [0.011, 0.0605] sex, age, birth date, deprivation index, 16 PCs —
PPM011501 PGS002080
(portability-ldpred2_654.2)
 PSS009344|
European Ancestry|
10,686 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Rhesus isoimmunization in pregnancy — — Partial Correlation (partial-r): 0.0529 [0.034, 0.0718] sex, age, birth date, deprivation index, 16 PCs —
PPM011502 PGS002080
(portability-ldpred2_654.2)
 PSS009118|
European Ancestry|
2,539 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Rhesus isoimmunization in pregnancy — — Partial Correlation (partial-r): 0.0603 [0.0213, 0.0991] sex, age, birth date, deprivation index, 16 PCs —
PPM011503 PGS002080
(portability-ldpred2_654.2)
 PSS008672|
European Ancestry|
3,602 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Rhesus isoimmunization in pregnancy — — Partial Correlation (partial-r): 0.0698 [0.0371, 0.1023] sex, age, birth date, deprivation index, 16 PCs —
PPM011504 PGS002080
(portability-ldpred2_654.2)
 PSS008446|
Greater Middle Eastern Ancestry|
470 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Rhesus isoimmunization in pregnancy — — Partial Correlation (partial-r): 0.0432 [-0.0494, 0.135] sex, age, birth date, deprivation index, 16 PCs —
PPM011505 PGS002080
(portability-ldpred2_654.2)
 PSS008226|
South Asian Ancestry|
2,815 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Rhesus isoimmunization in pregnancy — — Partial Correlation (partial-r): 0.0674 [0.0305, 0.1043] sex, age, birth date, deprivation index, 16 PCs —
PPM011506 PGS002080
(portability-ldpred2_654.2)
 PSS008007|
East Asian Ancestry|
1,173 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Rhesus isoimmunization in pregnancy — — Partial Correlation (partial-r): 0.0096 [-0.0482, 0.0672] sex, age, birth date, deprivation index, 16 PCs —
PPM011508 PGS002080
(portability-ldpred2_654.2)
 PSS008895|
African Ancestry|
2,068 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Rhesus isoimmunization in pregnancy — — Partial Correlation (partial-r): 0.0234 [-0.0199, 0.0666] sex, age, birth date, deprivation index, 16 PCs —
PPM011507 PGS002080
(portability-ldpred2_654.2)
 PSS007791|
African Ancestry|
1,548 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Rhesus isoimmunization in pregnancy — — Partial Correlation (partial-r): -0.0192 [-0.0692, 0.031] sex, age, birth date, deprivation index, 16 PCs —
PPM012970 PGS002281
(PRS23_MM)
 PSS009636|
European Ancestry|
2,395 individuals
 PGP000310 |
Canzian F et al. Eur J Hum Genet (2021)
 Reported Trait: Multiple myeloma — AUROC: 0.644 [0.622, 0.666] Odds Ratio (OR, highest vs lowest quintiles): 3.18 [2.34, 4.33] Age, sex, and geographic region of origin Unweighted score (100% call rate)
PPM012971 PGS002281
(PRS23_MM)
 PSS009636|
European Ancestry|
2,395 individuals
 PGP000310 |
Canzian F et al. Eur J Hum Genet (2021)
 Reported Trait: Multiple myeloma — AUROC: 0.628 [0.605, 0.65] Odds Ratio (OR, highest vs lowest quintiles): 3.44 [2.53, 4.69] Age, sex, and geographic region of origin Weighted score (100% call rate)
PPM013032 PGS002303
(PRS9_DLBCL)
 PSS009657|
European Ancestry|
308 individuals
 PGP000328 |
Choi J et al. Int J Cancer (2020)
 Reported Trait: Diffuse large B-cell lymphoma — AUROC: 0.56 [0.53, 0.6] — — —
PPM013040 PGS002303
(PRS9_DLBCL)
 PSS009657|
European Ancestry|
308 individuals
 PGP000328 |
Choi J et al. Int J Cancer (2020)
 Reported Trait: Diffuse large B-cell lymphoma — — Hazard ratio (HR top 5% vs average): 1.6 [1.01, 2.54] Age, birth cohort, genotyping array, top 10 PCs for ancestry and sex (for nonsex specific cancer only) —
PPM013033 PGS002304
(PRS6_FL)
 PSS009658|
European Ancestry|
197 individuals
 PGP000328 |
Choi J et al. Int J Cancer (2020)
 Reported Trait: Follicular lymphoma — AUROC: 0.61 [0.59, 0.63] — — —
PPM013041 PGS002304
(PRS6_FL)
 PSS009658|
European Ancestry|
197 individuals
 PGP000328 |
Choi J et al. Int J Cancer (2020)
 Reported Trait: Follicular lymphoma — — Hazard ratio (HR top 5% vs average): 2.33 [1.38, 3.93] Age, birth cohort, genotyping array, top 10 PCs for ancestry and sex (for nonsex specific cancer only) —
PPM013034 PGS002305
(PRS43_CLL)
 PSS009656|
European Ancestry|
265 individuals
 PGP000328 |
Choi J et al. Int J Cancer (2020)
 Reported Trait: Chronic lymphoid leukemia — AUROC: 0.57 [0.54, 0.6] — — —
PPM013042 PGS002305
(PRS43_CLL)
 PSS009656|
European Ancestry|
265 individuals
 PGP000328 |
Choi J et al. Int J Cancer (2020)
 Reported Trait: Chronic lymphoid leukemia — — Hazard ratio (HR top 5% vs average): 4.33 [2.92, 6.42] Age, birth cohort, genotyping array, top 10 PCs for ancestry and sex (for nonsex specific cancer only) —
PPM013035 PGS002306
(PRS23_MM)
 PSS009659|
European Ancestry|
290 individuals
 PGP000328 |
Choi J et al. Int J Cancer (2020)
 Reported Trait: Multiple myeloma — AUROC: 0.69 [0.64, 0.7] — — —
PPM013043 PGS002306
(PRS23_MM)
 PSS009659|
European Ancestry|
290 individuals
 PGP000328 |
Choi J et al. Int J Cancer (2020)
 Reported Trait: Multiple myeloma — — Hazard ratio (HR top 5% vs average): 2.41 [1.56, 3.72] Age, birth cohort, genotyping array, top 10 PCs for ancestry and sex (for nonsex specific cancer only) —
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] — — — —
PPM017231 PGS003449
(PRS21_HL)
 PSS010176|
European Ancestry|
20,134 individuals
 PGP000448 |
Berndt SI et al. Leukemia (2022)
 Reported Trait: Chronic lymphocytic leukemia OR: 1.02 [0.97, 1.08] — — — —
PPM017239 PGS003449
(PRS21_HL)
 PSS010176|
European Ancestry|
20,134 individuals
 PGP000448 |
Berndt SI et al. Leukemia (2022)
 Reported Trait: Diffuse large B-cell lymphoma OR: 1.07 [1.02, 1.13] — — — —
PPM017247 PGS003449
(PRS21_HL)
 PSS010176|
European Ancestry|
20,134 individuals
 PGP000448 |
Berndt SI et al. Leukemia (2022)
 Reported Trait: Follicular lymphoma OR: 0.88 [0.83, 0.93] — — — —
PPM017255 PGS003449
(PRS21_HL)
 PSS010176|
European Ancestry|
20,134 individuals
 PGP000448 |
Berndt SI et al. Leukemia (2022)
 Reported Trait: Marginal zone lymphoma OR: 1.05 [0.96, 1.16] — — — —
PPM017229 PGS003450
(PRS24_MM)
 PSS010176|
European Ancestry|
20,134 individuals
 PGP000448 |
Berndt SI et al. Leukemia (2022)
 Reported Trait: Chronic lymphocytic leukemia OR: 1.09 [1.02, 1.16] — — — —
PPM017237 PGS003450
(PRS24_MM)
 PSS010176|
European Ancestry|
20,134 individuals
 PGP000448 |
Berndt SI et al. Leukemia (2022)
 Reported Trait: Diffuse large B-cell lymphoma OR: 0.98 [0.93, 1.04] — — — —
PPM017245 PGS003450
(PRS24_MM)
 PSS010176|
European Ancestry|
20,134 individuals
 PGP000448 |
Berndt SI et al. Leukemia (2022)
 Reported Trait: Follicular lymphoma OR: 1.01 [0.95, 1.09] — — — —
PPM017253 PGS003450
(PRS24_MM)
 PSS010176|
European Ancestry|
20,134 individuals
 PGP000448 |
Berndt SI et al. Leukemia (2022)
 Reported Trait: Marginal zone lymphoma OR: 1.05 [0.94, 1.18] — — — —
PPM017227 PGS003451
(PRS2_MZL)
 PSS010176|
European Ancestry|
20,134 individuals
 PGP000448 |
Berndt SI et al. Leukemia (2022)
 Reported Trait: Chronic lymphocytic leukemia OR: 1.26 [1.09, 1.46] — — — —
PPM017235 PGS003451
(PRS2_MZL)
 PSS010176|
European Ancestry|
20,134 individuals
 PGP000448 |
Berndt SI et al. Leukemia (2022)
 Reported Trait: Diffuse large B-cell lymphoma OR: 1.53 [1.34, 1.75] — — — —
PPM017243 PGS003451
(PRS2_MZL)
 PSS010176|
European Ancestry|
20,134 individuals
 PGP000448 |
Berndt SI et al. Leukemia (2022)
 Reported Trait: Follicular lymphoma OR: 1.39 [1.21, 1.61] — — — —
PPM017251 PGS003451
(PRS2_MZL)
 PSS010176|
European Ancestry|
20,134 individuals
 PGP000448 |
Berndt SI et al. Leukemia (2022)
 Reported Trait: Marginal zone lymphoma OR: 2.43 [1.93, 3.06] — — — —
PPM017228 PGS003452
(PRS2_WM)
 PSS010176|
European Ancestry|
20,134 individuals
 PGP000448 |
Berndt SI et al. Leukemia (2022)
 Reported Trait: Chronic lymphocytic leukemia OR: 1.07 [1.01, 1.14] — — — —
PPM017236 PGS003452
(PRS2_WM)
 PSS010176|
European Ancestry|
20,134 individuals
 PGP000448 |
Berndt SI et al. Leukemia (2022)
 Reported Trait: Diffuse large B-cell lymphoma OR: 1.24 [1.18, 1.31] — — — —
PPM017244 PGS003452
(PRS2_WM)
 PSS010176|
European Ancestry|
20,134 individuals
 PGP000448 |
Berndt SI et al. Leukemia (2022)
 Reported Trait: Follicular lymphoma OR: 1.12 [1.05, 1.19] — — — —
PPM017252 PGS003452
(PRS2_WM)
 PSS010176|
European Ancestry|
20,134 individuals
 PGP000448 |
Berndt SI et al. Leukemia (2022)
 Reported Trait: Marginal zone lymphoma OR: 1.18 [1.07, 1.3] — — — —
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] — — — —
PPM017225 PGS003454
(PRS5_DLBCL)
 PSS010176|
European Ancestry|
20,134 individuals
 PGP000448 |
Berndt SI et al. Leukemia (2022)
 Reported Trait: Chronic lymphocytic leukemia OR: 1.33 [1.14, 1.54] — — — —
PPM017233 PGS003454
(PRS5_DLBCL)
 PSS010176|
European Ancestry|
20,134 individuals
 PGP000448 |
Berndt SI et al. Leukemia (2022)
 Reported Trait: Diffuse large B-cell lymphoma OR: 2.69 [2.35, 3.08] — — — —
PPM017249 PGS003454
(PRS5_DLBCL)
 PSS010176|
European Ancestry|
20,134 individuals
 PGP000448 |
Berndt SI et al. Leukemia (2022)
 Reported Trait: Marginal zone lymphoma OR: 2.1 [1.63, 2.72] — — — —
PPM017241 PGS003454
(PRS5_DLBCL)
 PSS010176|
European Ancestry|
20,134 individuals
 PGP000448 |
Berndt SI et al. Leukemia (2022)
 Reported Trait: Follicular lymphoma OR: 1.66 [1.42, 1.94] — — — —
PPM017226 PGS003455
(PRS7_FL)
 PSS010176|
European Ancestry|
20,134 individuals
 PGP000448 |
Berndt SI et al. Leukemia (2022)
 Reported Trait: Chronic lymphocytic leukemia OR: 1.07 [0.98, 1.17] — — — —
PPM017234 PGS003455
(PRS7_FL)
 PSS010176|
European Ancestry|
20,134 individuals
 PGP000448 |
Berndt SI et al. Leukemia (2022)
 Reported Trait: Diffuse large B-cell lymphoma OR: 1.28 [1.19, 1.39] — — — —
PPM017242 PGS003455
(PRS7_FL)
 PSS010176|
European Ancestry|
20,134 individuals
 PGP000448 |
Berndt SI et al. Leukemia (2022)
 Reported Trait: Follicular lymphoma OR: 2.77 [2.52, 3.04] — — — —
PPM017250 PGS003455
(PRS7_FL)
 PSS010176|
European Ancestry|
20,134 individuals
 PGP000448 |
Berndt SI et al. Leukemia (2022)
 Reported Trait: Marginal zone lymphoma OR: 0.94 [0.81, 1.09] — — — —
PPM020305 PGS004248
(PRS20_nhl)
 PSS011328|
European Ancestry|
133,830 individuals
 PGP000542 |
Kim ES et al. NPJ Precis Oncol (2023)
 Reported Trait: Non-Hodgkin's lymphoma HR: 1.16 [1.03, 1.3] — — first 10 genetic principal components —
PPM020313 PGS004248
(PRS20_nhl)
 PSS011329|
European Ancestry|
115,207 individuals
 PGP000542 |
Kim ES et al. NPJ Precis Oncol (2023)
 Reported Trait: Non-Hodgkin's lymphoma HR: 1.22 [1.1, 1.36] — — first 10 genetic principal components —

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
PSS004540 — —
[
  • 447 cases
  • , 66,978 controls
]
 — European white British ancestry UKB Testing cohort (heldout set)
PSS008007 — — 1,173 individuals — East Asian China (East Asia) UKB —
PSS000559 PheCode:201; ICD9CM:201.00, 201.01, 201.02, 201.03, 201.04, 201.05, 201.06, 201.07, 201.08, 201.10, 201.11, 201.12, 201.13, 201.14, 201.15, 201.16, 201.17, 201.18, 201.20, 201.21, 201.22, 201.23, 201.24, 201.25, 201.26, 201.27, 201.28, 201.40, 201.41, 201.42, 201.43, 201.44, 201.45, 201.46, 201.47, 201.48, 201.50, 201.51, 201.52, 201.53, 201.54, 201.55, 201.56, 201.57, 201.58, 201.60, 201.61, 201.62, 201.63, 201.64, 201.65, 201.66, 201.67, 201.68, 201.70, 201.71, 201.72, 201.73, 201.74, 201.75, 201.76, 201.77, 201.78, 201.90, 201.91, 201.92, 201.93, 201.94, 201.95, 201.96, 201.97, 201.98, V10.72; ICD10CM:C81, C81.0, C81.00, C81.01, C81.02, C81.03, C81.04, C81.05, C81.06, C81.07, C81.08, C81.09, C81.1, C81.10, C81.11, C81.12, C81.13, C81.14, C81.15, C81.16, C81.17, C81.18, C81.19, C81.2, C81.20, C81.21, C81.22, C81.23, C81.24, C81.25, C81.26, C81.27, C81.28, C81.29, C81.3, C81.30, C81.31, C81.32, C81.33, C81.34, C81.35, C81.36, C81.37, C81.38, C81.39, C81.4, C81.40, C81.41, C81.42, C81.43, C81.44, C81.45, C81.46, C81.47, C81.48, C81.49, C81.7, C81.70, C81.71, C81.72, C81.73, C81.74, C81.75, C81.76, C81.77, C81.78, C81.79, C81.9, C81.90, C81.91, C81.92, C81.93, C81.94, C81.95, C81.96, C81.97, C81.98, C81.99 —
[
  • 71 cases
  • , 704 controls
]
 — European — MGI —
PSS000560 PheCode:202.21; ICD9CM:202.00, 202.01, 202.02, 202.03, 202.04, 202.05, 202.06, 202.07, 202.08; ICD10CM:C82, C82.0, C82.00, C82.01, C82.02, C82.03, C82.04, C82.05, C82.06, C82.07, C82.08, C82.09, C82.1, C82.10, C82.11, C82.12, C82.13, C82.14, C82.15, C82.16, C82.17, C82.18, C82.19, C82.2, C82.20, C82.21, C82.22, C82.23, C82.24, C82.25, C82.26, C82.27, C82.28, C82.29, C82.3, C82.30, C82.31, C82.32, C82.33, C82.34, C82.35, C82.36, C82.37, C82.38, C82.39, C82.4, C82.40, C82.41, C82.42, C82.43, C82.44, C82.45, C82.46, C82.47, C82.48, C82.49, C82.5, C82.50, C82.51, C82.52, C82.53, C82.54, C82.55, C82.56, C82.57, C82.58, C82.59, C82.6, C82.60, C82.61, C82.62, C82.63, C82.64, C82.65, C82.66, C82.67, C82.68, C82.69, C82.8, C82.80, C82.81, C82.82, C82.83, C82.84, C82.85, C82.86, C82.87, C82.88, C82.89, C82.9, C82.90, C82.91, C82.92, C82.93, C82.94, C82.95, C82.96, C82.97, C82.98, C82.99 —
[
  • 296 cases
  • , 2,960 controls
]
 — European — MGI —
PSS000561 PheCode:204.12; ICD9CM:204.10, 204.11, 204.12; ICD10CM:C91.1, C91.10, C91.11, C91.12 —
[
  • 69 cases
  • , 687 controls
]
 — European — MGI —
PSS000562 PheCode:204.1; ICD9CM:204.00, 204.01, 204.02, 204.10, 204.11, 204.12, 204.20, 204.21, 204.22, 204.80, 204.81, 204.82, 204.90, 204.91, 204.92, V10.61; ICD10CM:C91, C91.0, C91.00, C91.01, C91.02, C91.1, C91.10, C91.11, C91.12, C91.3, C91.30, C91.31, C91.32, C91.4, C91.40, C91.41, C91.42, C91.5, C91.50, C91.51, C91.52, C91.6, C91.60, C91.61, C91.62, C91.9, C91.90, C91.91, C91.92, C91.A, C91.A0, C91.A1, C91.A2, C91.Z, C91.Z0, C91.Z1, C91.Z2 —
[
  • 87 cases
  • , 870 controls
]
 — European — MGI —
PSS000563 PheCode:204.4; ICD9CM:203.00, 203.01, 203.02, 203.80, 203.81, 203.82; ICD10CM:C88.2, C88.3, C88.9, C90.0, C90.00, C90.01, C90.02, C90.2, C90.20, C90.21, C90.22, C90.30, C90.31, C90.32 —
[
  • 83 cases
  • , 825 controls
]
 — European — MGI —
PSS004546 — —
[
  • 35 cases
  • , 6,462 controls
]
 — African unspecified — UKB —
PSS004547 — —
[
  • 3 cases
  • , 1,701 controls
]
 — East Asian — UKB —
PSS004548 — —
[
  • 123 cases
  • , 24,782 controls
]
 — European non-white British ancestry UKB —
PSS004549 — —
[
  • 18 cases
  • , 7,813 controls
]
 — South Asian — UKB —
PSS004550 — —
[
  • 268 cases
  • , 67,157 controls
]
 — European white British ancestry UKB Testing cohort (heldout set)
PSS009296 — — 19,864 individuals — European UK (+ Ireland) UKB —
PSS010176 — —
[
  • 10,629 cases
  • , 9,505 controls
]
 — European — NR Inter- Lymph Consortium
PSS011328 — — 133,830 individuals,
0.0 % Male samples
 — European
(British)		 — UKB —
PSS011329 — — 115,207 individuals,
100.0 % Male samples
 — European
(British)		 — UKB —
PSS008384 — — 1,178 individuals — Greater Middle Eastern (Middle Eastern, North African or Persian) Iran (Middle East) UKB —
PSS004536 — —
[
  • 19 cases
  • , 6,478 controls
]
 — African unspecified — UKB —
PSS000580 PheCode:202.2; ICD9:200, 200.2, 200.8, 202.1, 202.2, 202.8, 202.9; ICD10:B21.1, C82.0, C82.1, C82.2, C82.7, C82.9, C83.0, C83.1, C83.2, C83.3, C83.4, C83.5, C83.6, C83.7, C83.8, C83.9, C84.0, C84.1, C84.2, C84.3, C84.4, C84.5, C85.0, C85.1, C85.7, C85.9, C96.7, C96.9, L41.2 —
[
  • 901 cases
  • , 9,051 controls
]
 — European — UKB —
PSS000581 PheCode:204.12; ICD9:204.1; ICD10:C91.1 —
[
  • 249 cases
  • , 2,509 controls
]
 — European — UKB —
PSS000582 PheCode:204.4; ICD9:203, 203.0, 203.8; ICD10:C88.1, C88.3, C88.9, C90.0, C90.2 —
[
  • 248 cases
  • , 2,490 controls
]
 — European — UKB —
PSS009054 — — 4,052 individuals — European Poland (NE Europe) UKB —
PSS008162 — — 6,171 individuals — South Asian India (South Asia) UKB —
PSS008672 — — 3,602 individuals — European Italy (South Europe) UKB —
PSS004539 — —
[
  • 138 cases
  • , 7,693 controls
]
 — South Asian — UKB —
PSS009070 — — 4,108 individuals — European Poland (NE Europe) UKB —
PSS007791 — — 1,548 individuals — African American or Afro-Caribbean Carribean UKB —
PSS009636 — —
[
  • 1,426 cases
  • , 969 controls
]
 — European — NR International Multiple Myeloma rESEarch (IMMEnSE) consortium
PSS008178 — — 6,272 individuals — South Asian India (South Asia) UKB —
PSS009280 — — 19,539 individuals — European UK (+ Ireland) UKB —
PSS008446 — — 470 individuals — Greater Middle Eastern (Middle Eastern, North African or Persian) Iran (Middle East) UKB —
PSS009344 — — 10,686 individuals — European UK (+ Ireland) UKB —
PSS004481 — —
[
  • 5 cases
  • , 6,492 controls
]
 — African unspecified — UKB —
PSS004483 — —
[
  • 20 cases
  • , 24,885 controls
]
 — European non-white British ancestry UKB —
PSS004484 — —
[
  • 2 cases
  • , 7,829 controls
]
 — South Asian — UKB —
PSS004485 — —
[
  • 59 cases
  • , 67,366 controls
]
 — European white British ancestry UKB Testing cohort (heldout set)
PSS007949 — — 1,787 individuals — East Asian China (East Asia) UKB —
PSS010147 — —
[
  • 24 cases
  • , 222 controls
]
 — European — UKB —
PSS010148 — —
[
  • 61 cases
  • , 660 controls
]
 — European — UKB —
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. —
[
  • 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. —
[
  • 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. —
[
  • 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.
PSS009118 — — 2,539 individuals — European Poland (NE Europe) UKB —
PSS008608 — — 6,489 individuals — European Italy (South Europe) UKB —
PSS008226 — — 2,815 individuals — South Asian India (South Asia) UKB —
PSS009656 chronic lymphoid leukemia (ICD-9 = 204.1 or ICD-10 = C91.1) — 265 individuals — European — UKB —
PSS009657 diffuse large B-cell lymphoma (ICD-10 = C83.3) — 308 individuals — European — UKB —
PSS009658 follicular lymphoma (ICD- 10 = C82 or ICD-O: 9690) — 197 individuals — European — UKB —
PSS009659 multiple myeloma (ICD-9 = 203 or ICD-10 = C90.0) — 290 individuals — European — UKB —
PSS008624 — — 6,613 individuals — European Italy (South Europe) UKB —
PSS001119 Cases were individuals with chronic lymphocytic leukemia. —
[
  • 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. —
[
  • 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. —
[
  • 135 cases
  • , 83 controls
]
 — Not reported — NR Cases and controls were obtained from the Genetic Epidemiology of CLL (GEC) Consortium
PSS001016 Individuals with at least one recorded incident diagnosis of a borderline, in situ, or malignant primary cancer were defined as cases. —
[
  • 340 cases
  • , 390,998 controls
]
 — European — UKB —
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. —
[
  • 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.
PSS001122 Cases were individuals with monoclonal B-cell lymphocytosis. —
[
  • 95 cases
  • , 58 controls
]
 — Not reported — NR Cases and controls were obtained from the Genetic Epidemiology of CLL (GEC) Consortium
PSS001019 Individuals with at least one recorded incident diagnosis of a borderline, in situ, or malignant primary cancer were defined as cases. —
[
  • 970 cases
  • , 390,998 controls
]
 — European — UKB —
PSS008895 — — 2,068 individuals — African unspecified Nigeria (West Africa) UKB —
PSS000116 Cancer diagnoses were obtained from reigstry data in GERA, and ICD-9/10 codes mapped to ICD-O-3 codes in UK Biobank. Cancers for this phenotype were classified using the following SEER site recode(s): 35011 - 35013 —
[
  • 853 cases
  • , 410,354 controls
]
,
46.0 % Male samples
 Mean = 58.0 years European — GERA, UKB —
PSS004538 — —
[
  • 160 cases
  • , 24,745 controls
]
 — European non-white British ancestry UKB —
PSS000119 Cancer diagnoses were obtained from reigstry data in GERA, and ICD-9/10 codes mapped to ICD-O-3 codes in UK Biobank. Cancers for this phenotype were classified using the following SEER site recode(s): 33041, and 33042 —
[
  • 2,411 cases
  • , 410,354 controls
]
,
46.0 % Male samples
 Mean = 58.0 years European — GERA, UKB —