Trait: uterine disorder

Trait Information
Identifier MONDO_0002654
Description A non-neoplastic or neoplastic disorder that affects the uterine corpus or the cervix. Representative examples of non-neoplastic disorders include endometritis and cervicitis. Representative examples of neoplastic disorders include endometrial carcinoma, carcinosarcoma, and cervical carcinoma. [NCIT: P378]
Trait category
Other disease
Synonyms 7 synonyms
  • disease of uterus
  • disease or disorder of uterus
  • disorder of uterus
  • uterine disease
  • uterine disorder
  • uterus disease
  • uterus disease or disorder
Child trait(s) 11 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 PGS for child terms of "uterine disorder" in the EFO hierarchy.
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)
PGS000073
(CC_Cervix)
PGP000050 |
Graff RE et al. Nat Commun (2021)
Cervical cancer cervical carcinoma 10
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000073/ScoringFiles/PGS000073.txt.gz
PGS000075
(CC_Endo)
PGP000050 |
Graff RE et al. Nat Commun (2021)
Endometrial cancer endometrial carcinoma 9
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000075/ScoringFiles/PGS000075.txt.gz
PGS000541
(PRSWEB_PHECODE182_GWAS-Catalog-r2019-05-03-X182_P_5e-08_UKB_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Malignant neoplasm of uterus uterine cancer 18
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000541/ScoringFiles/PGS000541.txt.gz
PGS000542
(PRSWEB_PHECODE182_GWAS-Catalog-r2019-05-03-X182_PT_UKB_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Malignant neoplasm of uterus uterine cancer 20
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000542/ScoringFiles/PGS000542.txt.gz
PGS000784
(CC_Cervix_IV)
PGP000186 |
Kachuri L et al. Nat Commun (2020)
Cervical cancer cervical carcinoma 10
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000784/ScoringFiles/PGS000784.txt.gz
PGS000786
(CC_Endo_IV)
PGP000186 |
Kachuri L et al. Nat Commun (2020)
Endometrial cancer endometrial carcinoma 9
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000786/ScoringFiles/PGS000786.txt.gz
PGS001032
(GBE_HC31)
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Uterine fibroids uterine corpus leiomyoma 161
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001032/ScoringFiles/PGS001032.txt.gz
PGS001299
(GBE_cancer1041)
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Cervical cancer cervical carcinoma 24
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001299/ScoringFiles/PGS001299.txt.gz
PGS001795
(1kgeur_gbmi_leaveUKBBout_UtC_pst_eff_a1_b0.5_phiauto)
PGP000262 |
Wang Y et al. Cell Genom (2023)
Uterine cancer uterine carcinoma 911,692
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001795/ScoringFiles/PGS001795.txt.gz
PGS001813
(portability-PLR_218)
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Benign neoplasm of uterus uterine benign neoplasm 1,308
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001813/ScoringFiles/PGS001813.txt.gz
PGS001866
(portability-PLR_615)
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Endometriosis endometriosis 399
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001866/ScoringFiles/PGS001866.txt.gz
PGS002021
(portability-ldpred2_218)
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Benign neoplasm of uterus uterine benign neoplasm 547,617
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002021/ScoringFiles/PGS002021.txt.gz
PGS002077
(portability-ldpred2_615)
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Endometriosis endometriosis 534,802
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002077/ScoringFiles/PGS002077.txt.gz
PGS002263
(PRS_UF)
PGP000291 |
Piekos JA et al. Hum Genet (2022)
Uterine fibroids uterine corpus leiomyoma 4,457
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002263/ScoringFiles/PGS002263.txt.gz
PGS002300
(PRS19_endometrial)
PGP000328 |
Choi J et al. Int J Cancer (2020)
Endometrial cancer endometrial cancer 19
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002300/ScoringFiles/PGS002300.txt.gz
PGS002735
(PRS19)
PGP000344 |
Bafligil C et al. Genet Med (2022)
Endometrial cancer endometrial carcinoma 19
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002735/ScoringFiles/PGS002735.txt.gz
PGS002736
(PRS24)
PGP000344 |
Bafligil C et al. Genet Med (2022)
Endometrial cancer endometrial carcinoma 24
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002736/ScoringFiles/PGS002736.txt.gz
PGS002737
(PRS72)
PGP000344 |
Bafligil C et al. Genet Med (2022)
Endometrial cancer endometrial carcinoma 72
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002737/ScoringFiles/PGS002737.txt.gz
PGS003381
(best_UCEC)
PGP000413 |
Namba S et al. Cancer Res (2022)
Uterine endometrial carcinoma endometrial carcinoma 529,365
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003381/ScoringFiles/PGS003381.txt.gz
PGS003389
(best_CESC)
PGP000413 |
Namba S et al. Cancer Res (2022)
Cervical cancer cervical carcinoma 2,814
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003389/ScoringFiles/PGS003389.txt.gz
PGS003428
(Ldpred_CC_170223)
PGP000435 |
Koel M et al. Hum Mol Genet (2023)
Cervical cancer cervical carcinoma 2,894,555
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003428/ScoringFiles/PGS003428.txt.gz
PGS003447
(PRS14_endo)
PGP000447 |
Kloeve-Mogensen K et al. Front Reprod Health (2021)
Endometriosis endometriosis 14
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003447/ScoringFiles/PGS003447.txt.gz
PGS003740
(PRS16_CU)
PGP000470 |
Xin J et al. EBioMedicine (2023)
Corpus Uteri uterine corpus cancer 16
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003740/ScoringFiles/PGS003740.txt.gz
PGS004244
(PRS16_endometrium)
PGP000542 |
Kim ES et al. NPJ Precis Oncol (2023)
Endometrial cancer endometrial carcinoma 16
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004244/ScoringFiles/PGS004244.txt.gz
PGS005165
(PRS-CC)
PGP000711 |
Zhu M et al. PLoS Med (2025)
Cervical cancer cervical carcinoma 15
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS005165/ScoringFiles/PGS005165.txt.gz
PGS018540
(TPMI_180_Lassosum2)
PGP000835 |
Chen HH et al. Nature (2025)
Cervical cancer and dysplasia cervical cancer 32
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018540/ScoringFiles/PGS018540.txt.gz
PGS018541
(TPMI_180_LDpred2)
PGP000835 |
Chen HH et al. Nature (2025)
Cervical cancer and dysplasia cervical cancer 939,805
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018541/ScoringFiles/PGS018541.txt.gz
PGS018542
(TPMI_180_MegaPRS)
PGP000835 |
Chen HH et al. Nature (2025)
Cervical cancer and dysplasia cervical cancer 16,145
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018542/ScoringFiles/PGS018542.txt.gz
PGS018543
(TPMI_180_PRS-CS)
PGP000835 |
Chen HH et al. Nature (2025)
Cervical cancer and dysplasia cervical cancer 983,767
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018543/ScoringFiles/PGS018543.txt.gz
PGS018544
(TPMI_180_SBayesR)
PGP000835 |
Chen HH et al. Nature (2025)
Cervical cancer and dysplasia cervical cancer 992,634
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018544/ScoringFiles/PGS018544.txt.gz
PGS018545
(TPMI_180.1_Lassosum2)
PGP000835 |
Chen HH et al. Nature (2025)
Cervical cancer cervical cancer 1,050
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018545/ScoringFiles/PGS018545.txt.gz
PGS018546
(TPMI_180.1_LDpred2)
PGP000835 |
Chen HH et al. Nature (2025)
Cervical cancer cervical cancer 280,778
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018546/ScoringFiles/PGS018546.txt.gz
PGS018547
(TPMI_180.1_MegaPRS)
PGP000835 |
Chen HH et al. Nature (2025)
Cervical cancer cervical cancer 540,580
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018547/ScoringFiles/PGS018547.txt.gz
PGS018548
(TPMI_180.1_PRS-CS)
PGP000835 |
Chen HH et al. Nature (2025)
Cervical cancer cervical cancer 983,768
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018548/ScoringFiles/PGS018548.txt.gz
PGS018549
(TPMI_180.1_SBayesR)
PGP000835 |
Chen HH et al. Nature (2025)
Cervical cancer cervical cancer 1,011,318
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018549/ScoringFiles/PGS018549.txt.gz
PGS018555
(TPMI_182_Lassosum2)
PGP000835 |
Chen HH et al. Nature (2025)
Malignant neoplasm of uterus tumor of uterus 66,480
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018555/ScoringFiles/PGS018555.txt.gz
PGS018556
(TPMI_182_LDpred2)
PGP000835 |
Chen HH et al. Nature (2025)
Malignant neoplasm of uterus tumor of uterus 260,113
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018556/ScoringFiles/PGS018556.txt.gz
PGS018557
(TPMI_182_MegaPRS)
PGP000835 |
Chen HH et al. Nature (2025)
Malignant neoplasm of uterus tumor of uterus 21,252
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018557/ScoringFiles/PGS018557.txt.gz
PGS018558
(TPMI_182_PRS-CS)
PGP000835 |
Chen HH et al. Nature (2025)
Malignant neoplasm of uterus tumor of uterus 983,772
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018558/ScoringFiles/PGS018558.txt.gz
PGS018559
(TPMI_182_SBayesR)
PGP000835 |
Chen HH et al. Nature (2025)
Malignant neoplasm of uterus tumor of uterus 1,008,650
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018559/ScoringFiles/PGS018559.txt.gz
PGS018620
(TPMI_218_Lassosum2)
PGP000835 |
Chen HH et al. Nature (2025)
Benign neoplasm of uterus uterine benign neoplasm 222
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018620/ScoringFiles/PGS018620.txt.gz
PGS018621
(TPMI_218_LDpred2)
PGP000835 |
Chen HH et al. Nature (2025)
Benign neoplasm of uterus uterine benign neoplasm 939,827
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018621/ScoringFiles/PGS018621.txt.gz
PGS018622
(TPMI_218_MegaPRS)
PGP000835 |
Chen HH et al. Nature (2025)
Benign neoplasm of uterus uterine benign neoplasm 32,529
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018622/ScoringFiles/PGS018622.txt.gz
PGS018623
(TPMI_218_PRS-CS)
PGP000835 |
Chen HH et al. Nature (2025)
Benign neoplasm of uterus uterine benign neoplasm 983,782
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018623/ScoringFiles/PGS018623.txt.gz
PGS018624
(TPMI_218_SBayesR)
PGP000835 |
Chen HH et al. Nature (2025)
Benign neoplasm of uterus uterine benign neoplasm 982,615
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018624/ScoringFiles/PGS018624.txt.gz
PGS018625
(TPMI_218.1_Lassosum2)
PGP000835 |
Chen HH et al. Nature (2025)
Uterine leiomyoma uterine corpus leiomyoma 2,512
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018625/ScoringFiles/PGS018625.txt.gz
PGS018626
(TPMI_218.1_LDpred2)
PGP000835 |
Chen HH et al. Nature (2025)
Uterine leiomyoma uterine corpus leiomyoma 270,998
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018626/ScoringFiles/PGS018626.txt.gz
PGS018627
(TPMI_218.1_MegaPRS)
PGP000835 |
Chen HH et al. Nature (2025)
Uterine leiomyoma uterine corpus leiomyoma 34,428
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018627/ScoringFiles/PGS018627.txt.gz
PGS018628
(TPMI_218.1_PRS-CS)
PGP000835 |
Chen HH et al. Nature (2025)
Uterine leiomyoma uterine corpus leiomyoma 983,780
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018628/ScoringFiles/PGS018628.txt.gz
PGS018629
(TPMI_218.1_SBayesR)
PGP000835 |
Chen HH et al. Nature (2025)
Uterine leiomyoma uterine corpus leiomyoma 976,959
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018629/ScoringFiles/PGS018629.txt.gz
PGS019552
(TPMI_615_Lassosum2)
PGP000835 |
Chen HH et al. Nature (2025)
Endometriosis endometriosis 787
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019552/ScoringFiles/PGS019552.txt.gz
PGS019553
(TPMI_615_LDpred2)
PGP000835 |
Chen HH et al. Nature (2025)
Endometriosis endometriosis 939,817
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019553/ScoringFiles/PGS019553.txt.gz
PGS019554
(TPMI_615_MegaPRS)
PGP000835 |
Chen HH et al. Nature (2025)
Endometriosis endometriosis 28,093
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019554/ScoringFiles/PGS019554.txt.gz
PGS019555
(TPMI_615_PRS-CS)
PGP000835 |
Chen HH et al. Nature (2025)
Endometriosis endometriosis 983,765
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019555/ScoringFiles/PGS019555.txt.gz
PGS019556
(TPMI_615_SBayesR)
PGP000835 |
Chen HH et al. Nature (2025)
Endometriosis endometriosis 972,671
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019556/ScoringFiles/PGS019556.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
PPM000193 PGS000073
(CC_Cervix)
PSS000112|
European Ancestry|
226,216 individuals
PGP000050 |
Graff RE et al. Nat Commun (2021)
Reported Trait: Cervical cancer OR: 1.22 [1.19, 1.25] — — Genotyping reagent kit (GERA cohort only), genotyping array (UK Biobank only), age, 10 PCs. Results from meta-analysis of GERA and UKB
PPM002039 PGS000073
(CC_Cervix)
PSS001012|
European Ancestry|
211,795 individuals
PGP000186 |
Kachuri L et al. Nat Commun (2020)
|Ext.
Reported Trait: Incident cervical cancer HR: 1.22 [1.09, 1.37] AUROC: 0.745
C-index: 0.75 (0.017)
— Age at assessment, genotyping array, PCs(1-15), parity ( ≥1 live birth vs. none), oral contraceptive use (never used (0) vs. <20 years vs. ≥20 years), cigarette pack-years C-index calculated as a weighted average between 1 and 5 years and AUC at 5 years.
PPM000195 PGS000075
(CC_Endo)
PSS000114|
European Ancestry|
221,699 individuals
PGP000050 |
Graff RE et al. Nat Commun (2021)
Reported Trait: Endometrial cancer OR: 1.19 [1.14, 1.24] — — Genotyping reagent kit (GERA cohort only), genotyping array (UK Biobank only), age, 10 PCs. Results from meta-analysis of GERA and UKB
PPM002041 PGS000075
(CC_Endo)
PSS001014|
European Ancestry|
212,156 individuals
PGP000186 |
Kachuri L et al. Nat Commun (2020)
|Ext.
Reported Trait: Incident endometrial cancer HR: 1.19 [1.1, 1.29] AUROC: 0.755
C-index: 0.749 (0.011)
— Age at assessment, family history of cancer, genotyping array, PCs(1-15), parity ( ≥1 live birth vs. none), age at menarche, body mass index, Menopausal status (pre-menopausal vs. post-menopausal vs. unknown or hysterectomy), ever used hormone replacement therapy, oral contraceptive use (never used (0) vs. <20 years vs. ≥20 years), C-index calculated as a weighted average between 1 and 5 years and AUC at 5 years.
PPM017170 PGS000075
(CC_Endo)
PSS010152|
European Ancestry|
494 individuals
PGP000443 |
Byrne S et al. Int J Epidemiol (2023)
|Ext.
Reported Trait: Uterine cancer HR: 1.31 [1.2, 1.44] — — 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 —
PPM001226 PGS000541
(PRSWEB_PHECODE182_GWAS-Catalog-r2019-05-03-X182_P_5e-08_UKB_20200608)
PSS000571|
European Ancestry|
6,987 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Malignant neoplasm of uterus OR: 1.311 [1.209, 1.422]
β: 0.271 (0.0415)
AUROC: 0.576 [0.553, 0.6] Nagelkerke's Pseudo-R²: 0.0133
Brier score: 0.082
Odds Ratio (OR, top 1% vs. Rest): 2.12 [1.17, 3.84]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE182_GWAS-Catalog-r2019-05-03-X182_P_5e-08_UKB_20200608
PPM001227 PGS000542
(PRSWEB_PHECODE182_GWAS-Catalog-r2019-05-03-X182_PT_UKB_20200608)
PSS000571|
European Ancestry|
6,987 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Malignant neoplasm of uterus OR: 1.302 [1.2, 1.413]
β: 0.264 (0.0416)
AUROC: 0.572 [0.549, 0.596] Nagelkerke's Pseudo-R²: 0.0126
Brier score: 0.082
Odds Ratio (OR, top 1% vs. Rest): 2.6 [1.5, 4.51]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE182_GWAS-Catalog-r2019-05-03-X182_PT_UKB_20200608
PPM002055 PGS000784
(CC_Cervix_IV)
PSS001012|
European Ancestry|
211,795 individuals
PGP000186 |
Kachuri L et al. Nat Commun (2020)
Reported Trait: Incident cervical cancer HR: 1.21 [1.07, 1.35] AUROC: 0.745
C-index: 0.749 (0.017)
R²: 0.437 Age at assessment, genotyping array, PCs(1-15), parity ( ≥1 live birth vs. none), oral contraceptive use (never used (0) vs. <20 years vs. ≥20 years), cigarette pack-years C-index calculated as a weighted average between 1 and 5 years and AUC at 5 years.
PPM002057 PGS000786
(CC_Endo_IV)
PSS001014|
European Ancestry|
212,156 individuals
PGP000186 |
Kachuri L et al. Nat Commun (2020)
Reported Trait: Incident endometrial cancer HR: 1.18 [1.09, 1.27] AUROC: 0.754
C-index: 0.749 (0.011)
R²: 0.486 Age at assessment, family history of cancer, genotyping array, PCs(1-15), parity ( ≥1 live birth vs. none), age at menarche, body mass index, Menopausal status (pre-menopausal vs. post-menopausal vs. unknown or hysterectomy), ever used hormone replacement therapy, oral contraceptive use (never used (0) vs. <20 years vs. ≥20 years), C-index calculated as a weighted average between 1 and 5 years and AUC at 5 years.
PPM007923 PGS001032
(GBE_HC31)
PSS004432|
African Ancestry|
6,497 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Reported Trait: Uterine fibroids — AUROC: 0.76646 [0.74986, 0.78306] R²: 0.19353
Incremental AUROC (full-covars): 0.00769
PGS R2 (no covariates): 0.00167
PGS AUROC (no covariates): 0.52708 [0.49761, 0.55655]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007924 PGS001032
(GBE_HC31)
PSS004433|
East Asian Ancestry|
1,704 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Reported Trait: Uterine fibroids — AUROC: 0.78861 [0.72118, 0.85605] R²: 0.15287
Incremental AUROC (full-covars): -0.00776
PGS R2 (no covariates): 2e-05
PGS AUROC (no covariates): 0.48768 [0.36905, 0.60631]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007925 PGS001032
(GBE_HC31)
PSS004434|
European Ancestry|
24,905 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Reported Trait: Uterine fibroids — AUROC: 0.76622 [0.75066, 0.78178] R²: 0.12754
Incremental AUROC (full-covars): 0.00896
PGS R2 (no covariates): 0.00275
PGS AUROC (no covariates): 0.54817 [0.52052, 0.57581]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007926 PGS001032
(GBE_HC31)
PSS004435|
South Asian Ancestry|
7,831 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Reported Trait: Uterine fibroids — AUROC: 0.84627 [0.82086, 0.87168] R²: 0.18068
Incremental AUROC (full-covars): 0.00364
PGS R2 (no covariates): 0.00384
PGS AUROC (no covariates): 0.55148 [0.49383, 0.60912]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007927 PGS001032
(GBE_HC31)
PSS004436|
European Ancestry|
67,425 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Reported Trait: Uterine fibroids — AUROC: 0.78165 [0.77294, 0.79036] R²: 0.14246
Incremental AUROC (full-covars): 0.00535
PGS R2 (no covariates): 0.00214
PGS AUROC (no covariates): 0.54273 [0.52605, 0.55942]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008992 PGS001299
(GBE_cancer1041)
PSS007631|
African Ancestry|
6,497 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Reported Trait: Cervical cancer — AUROC: 0.81923 [0.77827, 0.86018] R²: 0.1174
Incremental AUROC (full-covars): -0.00507
PGS R2 (no covariates): 0.00206
PGS AUROC (no covariates): 0.46736 [0.35923, 0.57549]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008993 PGS001299
(GBE_cancer1041)
PSS007632|
East Asian Ancestry|
1,704 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Reported Trait: Cervical cancer — AUROC: 0.91431 [0.84118, 0.98744] R²: 0.22017
Incremental AUROC (full-covars): 0.00128
PGS R2 (no covariates): 0.0
PGS AUROC (no covariates): 0.52896 [0.28465, 0.77326]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008994 PGS001299
(GBE_cancer1041)
PSS007633|
European Ancestry|
24,905 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Reported Trait: Cervical cancer — AUROC: 0.76761 [0.74661, 0.7886] R²: 0.11284
Incremental AUROC (full-covars): 0.00676
PGS R2 (no covariates): 0.00263
PGS AUROC (no covariates): 0.55215 [0.51478, 0.58952]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008995 PGS001299
(GBE_cancer1041)
PSS007634|
South Asian Ancestry|
7,831 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Reported Trait: Cervical cancer — AUROC: 0.83945 [0.77567, 0.90324] R²: 0.13265
Incremental AUROC (full-covars): -0.00075
PGS R2 (no covariates): 0.00058
PGS AUROC (no covariates): 0.46169 [0.30956, 0.61382]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008996 PGS001299
(GBE_cancer1041)
PSS007635|
European Ancestry|
67,425 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Reported Trait: Cervical cancer — AUROC: 0.7705 [0.75816, 0.78284] R²: 0.11652
Incremental AUROC (full-covars): 0.00962
PGS R2 (no covariates): 0.00294
PGS AUROC (no covariates): 0.54769 [0.52291, 0.57247]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009299 PGS001795
(1kgeur_gbmi_leaveUKBBout_UtC_pst_eff_a1_b0.5_phiauto)
PSS007718|
European Ancestry|
170,276 individuals
PGP000262 |
Wang Y et al. Cell Genom (2023)
Reported Trait: Uterine cancer — AUROC: 0.66 Nagelkerke's R2 (covariates regressed out): 0.00195 sex,age,age2,age*sex,age^2*sex, 20PCs —
PPM009404 PGS001813
(portability-PLR_218)
PSS009283|
European Ancestry|
10,254 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Benign neoplasm of uterus — — Partial Correlation (partial-r): 0.0392 [0.0199, 0.0586] sex, age, birth date, deprivation index, 16 PCs —
PPM009405 PGS001813
(portability-PLR_218)
PSS009057|
European Ancestry|
2,468 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Benign neoplasm of uterus — — Partial Correlation (partial-r): 0.0775 [0.038, 0.1168] sex, age, birth date, deprivation index, 16 PCs —
PPM009406 PGS001813
(portability-PLR_218)
PSS008611|
European Ancestry|
3,518 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Benign neoplasm of uterus — — Partial Correlation (partial-r): 0.0381 [0.005, 0.0712] sex, age, birth date, deprivation index, 16 PCs —
PPM009407 PGS001813
(portability-PLR_218)
PSS008387|
Greater Middle Eastern Ancestry|
467 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Benign neoplasm of uterus — — Partial Correlation (partial-r): 0.1251 [0.0328, 0.2152] sex, age, birth date, deprivation index, 16 PCs —
PPM009408 PGS001813
(portability-PLR_218)
PSS008165|
South Asian Ancestry|
2,817 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Benign neoplasm of uterus — — Partial Correlation (partial-r): 0.0862 [0.0493, 0.1228] sex, age, birth date, deprivation index, 16 PCs —
PPM009409 PGS001813
(portability-PLR_218)
PSS007952|
East Asian Ancestry|
1,164 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Benign neoplasm of uterus — — Partial Correlation (partial-r): 0.0245 [-0.0335, 0.0823] sex, age, birth date, deprivation index, 16 PCs —
PPM009410 PGS001813
(portability-PLR_218)
PSS007733|
African Ancestry|
1,520 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Benign neoplasm of uterus — — Partial Correlation (partial-r): 0.0263 [-0.0244, 0.0768] sex, age, birth date, deprivation index, 16 PCs —
PPM009411 PGS001813
(portability-PLR_218)
PSS008836|
African Ancestry|
2,067 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Benign neoplasm of uterus — — Partial Correlation (partial-r): 0.0186 [-0.0248, 0.0618] sex, age, birth date, deprivation index, 16 PCs —
PPM009817 PGS001866
(portability-PLR_615)
PSS009341|
European Ancestry|
10,566 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Endometriosis — — Partial Correlation (partial-r): 0.0219 [0.0028, 0.041] sex, age, birth date, deprivation index, 16 PCs —
PPM009818 PGS001866
(portability-PLR_615)
PSS009115|
European Ancestry|
2,514 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Endometriosis — — Partial Correlation (partial-r): 0.0355 [-0.0037, 0.0747] sex, age, birth date, deprivation index, 16 PCs —
PPM009819 PGS001866
(portability-PLR_615)
PSS008669|
European Ancestry|
3,593 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Endometriosis — — Partial Correlation (partial-r): 0.0028 [-0.03, 0.0356] sex, age, birth date, deprivation index, 16 PCs —
PPM009820 PGS001866
(portability-PLR_615)
PSS008443|
Greater Middle Eastern Ancestry|
468 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Endometriosis — — Partial Correlation (partial-r): 0.0366 [-0.0562, 0.1287] sex, age, birth date, deprivation index, 16 PCs —
PPM009821 PGS001866
(portability-PLR_615)
PSS008223|
South Asian Ancestry|
2,826 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Endometriosis — — Partial Correlation (partial-r): 0.0358 [-0.0012, 0.0727] sex, age, birth date, deprivation index, 16 PCs —
PPM009822 PGS001866
(portability-PLR_615)
PSS008004|
East Asian Ancestry|
1,175 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Endometriosis — — Partial Correlation (partial-r): 0.0619 [0.0042, 0.1191] sex, age, birth date, deprivation index, 16 PCs —
PPM009823 PGS001866
(portability-PLR_615)
PSS007788|
African Ancestry|
1,515 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Endometriosis — — Partial Correlation (partial-r): 0.0248 [-0.0259, 0.0754] sex, age, birth date, deprivation index, 16 PCs —
PPM009824 PGS001866
(portability-PLR_615)
PSS008892|
African Ancestry|
2,021 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Endometriosis — — Partial Correlation (partial-r): 0.024 [-0.0199, 0.0677] sex, age, birth date, deprivation index, 16 PCs —
PPM011042 PGS002021
(portability-ldpred2_218)
PSS009283|
European Ancestry|
10,254 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Benign neoplasm of uterus — — Partial Correlation (partial-r): 0.0479 [0.0286, 0.0672] sex, age, birth date, deprivation index, 16 PCs —
PPM011043 PGS002021
(portability-ldpred2_218)
PSS009057|
European Ancestry|
2,468 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Benign neoplasm of uterus — — Partial Correlation (partial-r): 0.1046 [0.0653, 0.1436] sex, age, birth date, deprivation index, 16 PCs —
PPM011044 PGS002021
(portability-ldpred2_218)
PSS008611|
European Ancestry|
3,518 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Benign neoplasm of uterus — — Partial Correlation (partial-r): 0.0454 [0.0123, 0.0785] sex, age, birth date, deprivation index, 16 PCs —
PPM011046 PGS002021
(portability-ldpred2_218)
PSS008165|
South Asian Ancestry|
2,817 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Benign neoplasm of uterus — — Partial Correlation (partial-r): 0.0966 [0.0597, 0.1332] sex, age, birth date, deprivation index, 16 PCs —
PPM011048 PGS002021
(portability-ldpred2_218)
PSS007733|
African Ancestry|
1,520 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Benign neoplasm of uterus — — Partial Correlation (partial-r): 0.0301 [-0.0205, 0.0806] sex, age, birth date, deprivation index, 16 PCs —
PPM011045 PGS002021
(portability-ldpred2_218)
PSS008387|
Greater Middle Eastern Ancestry|
467 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Benign neoplasm of uterus — — Partial Correlation (partial-r): 0.152 [0.0602, 0.2413] sex, age, birth date, deprivation index, 16 PCs —
PPM011047 PGS002021
(portability-ldpred2_218)
PSS007952|
East Asian Ancestry|
1,164 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Benign neoplasm of uterus — — Partial Correlation (partial-r): 0.0232 [-0.0347, 0.0811] sex, age, birth date, deprivation index, 16 PCs —
PPM011049 PGS002021
(portability-ldpred2_218)
PSS008836|
African Ancestry|
2,067 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Benign neoplasm of uterus — — Partial Correlation (partial-r): 0.0238 [-0.0195, 0.067] sex, age, birth date, deprivation index, 16 PCs —
PPM011477 PGS002077
(portability-ldpred2_615)
PSS009341|
European Ancestry|
10,566 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Endometriosis — — Partial Correlation (partial-r): 0.0252 [0.0061, 0.0442] sex, age, birth date, deprivation index, 16 PCs —
PPM011478 PGS002077
(portability-ldpred2_615)
PSS009115|
European Ancestry|
2,514 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Endometriosis — — Partial Correlation (partial-r): 0.0048 [-0.0345, 0.044] sex, age, birth date, deprivation index, 16 PCs —
PPM011479 PGS002077
(portability-ldpred2_615)
PSS008669|
European Ancestry|
3,593 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Endometriosis — — Partial Correlation (partial-r): 0.0127 [-0.0201, 0.0455] sex, age, birth date, deprivation index, 16 PCs —
PPM011480 PGS002077
(portability-ldpred2_615)
PSS008443|
Greater Middle Eastern Ancestry|
468 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Endometriosis — — Partial Correlation (partial-r): 0.0933 sex, age, birth date, deprivation index, 16 PCs —
PPM011481 PGS002077
(portability-ldpred2_615)
PSS008223|
South Asian Ancestry|
2,826 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Endometriosis — — Partial Correlation (partial-r): 0.0077 [-0.0293, 0.0447] sex, age, birth date, deprivation index, 16 PCs —
PPM011482 PGS002077
(portability-ldpred2_615)
PSS008004|
East Asian Ancestry|
1,175 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Endometriosis — — Partial Correlation (partial-r): -0.0422 [-0.0996, 0.0155] sex, age, birth date, deprivation index, 16 PCs —
PPM011483 PGS002077
(portability-ldpred2_615)
PSS007788|
African Ancestry|
1,515 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Endometriosis — — Partial Correlation (partial-r): -0.0013 [-0.052, 0.0494] sex, age, birth date, deprivation index, 16 PCs —
PPM011484 PGS002077
(portability-ldpred2_615)
PSS008892|
African Ancestry|
2,021 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Endometriosis — — Partial Correlation (partial-r): 0.002 [-0.0418, 0.0458] sex, age, birth date, deprivation index, 16 PCs —
PPM012882 PGS002263
(PRS_UF)
PSS009591|
European Ancestry|
26,637 individuals
PGP000291 |
Piekos JA et al. Hum Genet (2022)
Reported Trait: Uterine fibroid OR: 1.35 [1.34, 1.37] AUROC: 0.6 [0.58, 0.62] — BMI, age, 10 principal components —
PPM012883 PGS002263
(PRS_UF)
PSS009591|
European Ancestry|
26,637 individuals
PGP000291 |
Piekos JA et al. Hum Genet (2022)
Reported Trait: Benign neoplasm of uterus OR: 1.31 [1.26, 1.37] — — BMI, age, 10 principal components —
PPM012884 PGS002263
(PRS_UF)
PSS009591|
European Ancestry|
26,637 individuals
PGP000291 |
Piekos JA et al. Hum Genet (2022)
Reported Trait: Uterine leiomyoma OR: 1.32 [1.26, 1.37] — — BMI, age, 10 principal components —
PPM013029 PGS002300
(PRS19_endometrial)
PSS009660|
European Ancestry|
629 individuals
PGP000328 |
Choi J et al. Int J Cancer (2020)
Reported Trait: Endometrial cancer — AUROC: 0.64 [0.61, 0.67] — — —
PPM013037 PGS002300
(PRS19_endometrial)
PSS009660|
European Ancestry|
629 individuals
PGP000328 |
Choi J et al. Int J Cancer (2020)
Reported Trait: Endometrial cancer — — Hazard ratio (HR top 5% vs average): 1.34 [0.96, 1.88] Age, birth cohort, genotyping array, top 10 PCs for ancestry and sex (for nonsex specific cancer only) —
PPM014832 PGS002735
(PRS19)
PSS009907|
European Ancestry|
118,636 individuals
PGP000344 |
Bafligil C et al. Genet Med (2022)
Reported Trait: Risk of endometrial cancer — AUROC: 0.56 [0.54, 0.57] Odds ratio (OR, third vs first tertile): 1.55 [1.37, 1.74] — —
PPM014835 PGS002735
(PRS19)
PSS009907|
European Ancestry|
118,636 individuals
PGP000344 |
Bafligil C et al. Genet Med (2022)
Reported Trait: Risk of endometrial cancer HR: 0.2 [0.15, 0.25] — — BMI —
PPM014833 PGS002736
(PRS24)
PSS009907|
European Ancestry|
118,636 individuals
PGP000344 |
Bafligil C et al. Genet Med (2022)
Reported Trait: Risk of endometrial cancer — AUROC: 0.53 [0.52, 0.54] Odds ratio (OR, third vs first tertile): 1.27 [1.13, 1.43] — —
PPM014836 PGS002736
(PRS24)
PSS009907|
European Ancestry|
118,636 individuals
PGP000344 |
Bafligil C et al. Genet Med (2022)
Reported Trait: Risk of endometrial cancer HR: 0.11 [0.07, 0.16] — — BMI —
PPM014834 PGS002737
(PRS72)
PSS009907|
European Ancestry|
118,636 individuals
PGP000344 |
Bafligil C et al. Genet Med (2022)
Reported Trait: Risk of endometrial cancer — AUROC: 0.54 [0.52, 0.55] Odds ratio (OR, third vs first tertile): 1.32 [1.17, 1.48] — —
PPM014837 PGS002737
(PRS72)
PSS009907|
European Ancestry|
118,636 individuals
PGP000344 |
Bafligil C et al. Genet Med (2022)
Reported Trait: Risk of endometrial cancer HR: 0.13 [0.08, 0.18] — — BMI —
PPM016256 PGS003381
(best_UCEC)
PSS010086|
European Ancestry|
144,479 individuals
PGP000413 |
Namba S et al. Cancer Res (2022)
Reported Trait: uterine endometrial carcinoma — AUROC: 0.761 R²: 0.11 age, top 20 genetic principal components —
PPM016264 PGS003389
(best_CESC)
PSS010075|
European Ancestry|
144,374 individuals
PGP000413 |
Namba S et al. Cancer Res (2022)
Reported Trait: cervical cancer — AUROC: 0.563 R²: 0.00158 age, top 20 genetic principal components —
PPM017102 PGS003428
(Ldpred_CC_170223)
PSS010125|
European Ancestry|
128,113 individuals
PGP000435 |
Koel M et al. Hum Mol Genet (2023)
Reported Trait: Incident cervical cancer HR: 1.33 (0.069) C-index: 0.613 — age, smoking —
PPM017213 PGS003447
(PRS14_endo)
PSS010171|
European Ancestry|
259,189 individuals
PGP000447 |
Kloeve-Mogensen K et al. Front Reprod Health (2021)
Reported Trait: Endometriosis OR: 1.28 AUROC: 0.57 R²: 0.006 — R2 is estimated using Nagelkerke's method
PPM017214 PGS003447
(PRS14_endo)
PSS010164|
Ancestry Not Reported|
1,053 individuals
PGP000447 |
Kloeve-Mogensen K et al. Front Reprod Health (2021)
Reported Trait: Adenomyosis OR: 1.04 AUROC: 0.5 R²: 0.0 — R2 is estimated using Nagelkerke's method
PPM017215 PGS003447
(PRS14_endo)
PSS010170|
European Ancestry|
258,105 individuals
PGP000447 |
Kloeve-Mogensen K et al. Front Reprod Health (2021)
Reported Trait: Adenomyosis OR: 1.07 AUROC: 0.52 R²: 0.0 — R2 is estimated using Nagelkerke's method
PPM017216 PGS003447
(PRS14_endo)
PSS010166|
Ancestry Not Reported|
874 individuals
PGP000447 |
Kloeve-Mogensen K et al. Front Reprod Health (2021)
Reported Trait: Infiltrating endometriosis OR: 1.66 AUROC: 0.6 R²: 0.065 — R2 is estimated using Nagelkerke's method
PPM017217 PGS003447
(PRS14_endo)
PSS010168|
Ancestry Not Reported|
739 individuals
PGP000447 |
Kloeve-Mogensen K et al. Front Reprod Health (2021)
Reported Trait: Ovarian endometriosis OR: 1.72 AUROC: 0.64 R²: 0.051 — R2 is estimated using Nagelkerke's method
PPM017218 PGS003447
(PRS14_endo)
PSS010169|
Ancestry Not Reported|
724 individuals
PGP000447 |
Kloeve-Mogensen K et al. Front Reprod Health (2021)
Reported Trait: Peritoneal endometriosis OR: 1.51 AUROC: 0.61 R²: 0.026 — R2 is estimated using Nagelkerke's method
PPM017219 PGS003447
(PRS14_endo)
PSS010167|
Ancestry Not Reported|
708 individuals
PGP000447 |
Kloeve-Mogensen K et al. Front Reprod Health (2021)
Reported Trait: Endometriosis - other subtype OR: 1.27 AUROC: 0.53 R²: 0.008 — R2 is estimated using Nagelkerke's method
PPM017220 PGS003447
(PRS14_endo)
PSS010172|
European Ancestry|
256,327 individuals
PGP000447 |
Kloeve-Mogensen K et al. Front Reprod Health (2021)
Reported Trait: Infiltrating endometriosis OR: 1.22 AUROC: 0.55 R²: 0.002 — R2 is estimated using Nagelkerke's method
PPM017221 PGS003447
(PRS14_endo)
PSS010174|
European Ancestry|
257,380 individuals
PGP000447 |
Kloeve-Mogensen K et al. Front Reprod Health (2021)
Reported Trait: Ovarian endometriosis OR: 1.39 AUROC: 0.6 R²: 0.009 — R2 is estimated using Nagelkerke's method
PPM017223 PGS003447
(PRS14_endo)
PSS010173|
European Ancestry|
257,190 individuals
PGP000447 |
Kloeve-Mogensen K et al. Front Reprod Health (2021)
Reported Trait: Endometriosis - other subtype OR: 1.19 AUROC: 0.55 R²: 0.002 — R2 is estimated using Nagelkerke's method
PPM017212 PGS003447
(PRS14_endo)
PSS010164|
Ancestry Not Reported|
1,053 individuals
PGP000447 |
Kloeve-Mogensen K et al. Front Reprod Health (2021)
Reported Trait: Endometriosis OR: 1.57 AUROC: 0.64 R²: 0.061 — R2 is estimated using Nagelkerke's method
PPM017222 PGS003447
(PRS14_endo)
PSS010175|
European Ancestry|
256,958 individuals
PGP000447 |
Kloeve-Mogensen K et al. Front Reprod Health (2021)
Reported Trait: Peritoneal endometriosis OR: 1.25 AUROC: 0.56 R²: 0.004 — R2 is estimated using Nagelkerke's method
PPM018496 PGS003740
(PRS16_CU)
PSS010989|
European Ancestry|
372 individuals
PGP000470 |
Xin J et al. EBioMedicine (2023)
Reported Trait: Corpus Uteri OR: 1.38 [1.2, 1.58] — — — —
PPM020301 PGS004244
(PRS16_endometrium)
PSS011328|
European Ancestry|
133,830 individuals
PGP000542 |
Kim ES et al. NPJ Precis Oncol (2023)
Reported Trait: Endometrial cancer HR: 1.25 [1.14, 1.36] — — first 10 genetic principal components —
PPM022403 PGS005165
(PRS-CC)
PSS011943|
East Asian Ancestry|
57,359 individuals
PGP000711 |
Zhu M et al. PLoS Med (2025)
Reported Trait: Cervical Cancer HR: 1.2 [1.06, 1.36]
β: 0.182
C-index: 0.566 — Age,Sex (if applicable),Region,Top 10 genetic ancestry principal components The HR and C-index values were derived from Cox proportional hazards regression models.
PPM036722 PGS018540
(TPMI_180_Lassosum2)
PSS012453|
East Asian Ancestry|
8,290 individuals
PGP000835 |
Chen HH et al. Nature (2025)
Reported Trait: Cervical cancer and dysplasia — AUROC: 0.71423 R²: 0.10406 sex, age, array, PCs 1-10 —
PPM036723 PGS018541
(TPMI_180_LDpred2)
PSS012452|
East Asian Ancestry|
8,290 individuals
PGP000835 |
Chen HH et al. Nature (2025)
Reported Trait: Cervical cancer and dysplasia — AUROC: 0.71373 R²: 0.10361 sex, age, array, PCs 1-10 —
PPM036724 PGS018542
(TPMI_180_MegaPRS)
PSS012454|
East Asian Ancestry|
8,290 individuals
PGP000835 |
Chen HH et al. Nature (2025)
Reported Trait: Cervical cancer and dysplasia — AUROC: 0.71362 R²: 0.10344 sex, age, array, PCs 1-10 —
PPM036725 PGS018543
(TPMI_180_PRS-CS)
PSS012455|
East Asian Ancestry|
8,290 individuals
PGP000835 |
Chen HH et al. Nature (2025)
Reported Trait: Cervical cancer and dysplasia — AUROC: 0.7135 R²: 0.10346 sex, age, array, PCs 1-10 —
PPM036726 PGS018544
(TPMI_180_SBayesR)
PSS012456|
East Asian Ancestry|
8,290 individuals
PGP000835 |
Chen HH et al. Nature (2025)
Reported Trait: Cervical cancer and dysplasia — AUROC: 0.71409 R²: 0.10359 sex, age, array, PCs 1-10 —
PPM036727 PGS018545
(TPMI_180.1_Lassosum2)
PSS012443|
East Asian Ancestry|
8,044 individuals
PGP000835 |
Chen HH et al. Nature (2025)
Reported Trait: Cervical cancer — AUROC: 0.67978 R²: 0.02097 sex, age, array, PCs 1-10 —
PPM036728 PGS018546
(TPMI_180.1_LDpred2)
PSS012442|
East Asian Ancestry|
8,044 individuals
PGP000835 |
Chen HH et al. Nature (2025)
Reported Trait: Cervical cancer — AUROC: 0.67992 R²: 0.02138 sex, age, array, PCs 1-10 —
PPM036729 PGS018547
(TPMI_180.1_MegaPRS)
PSS012444|
East Asian Ancestry|
8,044 individuals
PGP000835 |
Chen HH et al. Nature (2025)
Reported Trait: Cervical cancer — AUROC: 0.67784 R²: 0.02043 sex, age, array, PCs 1-10 —
PPM036730 PGS018548
(TPMI_180.1_PRS-CS)
PSS012445|
East Asian Ancestry|
8,044 individuals
PGP000835 |
Chen HH et al. Nature (2025)
Reported Trait: Cervical cancer — AUROC: 0.68 R²: 0.02133 sex, age, array, PCs 1-10 —
PPM036731 PGS018549
(TPMI_180.1_SBayesR)
PSS012446|
East Asian Ancestry|
8,044 individuals
PGP000835 |
Chen HH et al. Nature (2025)
Reported Trait: Cervical cancer — AUROC: 0.68346 R²: 0.02179 sex, age, array, PCs 1-10 —
PPM036737 PGS018555
(TPMI_182_Lassosum2)
PSS012458|
East Asian Ancestry|
8,180 individuals
PGP000835 |
Chen HH et al. Nature (2025)
Reported Trait: Malignant neoplasm of uterus — AUROC: 0.6505 R²: 0.02135 sex, age, array, PCs 1-10 —
PPM036738 PGS018556
(TPMI_182_LDpred2)
PSS012457|
East Asian Ancestry|
8,180 individuals
PGP000835 |
Chen HH et al. Nature (2025)
Reported Trait: Malignant neoplasm of uterus — AUROC: 0.65184 R²: 0.02222 sex, age, array, PCs 1-10 —
PPM036739 PGS018557
(TPMI_182_MegaPRS)
PSS012459|
East Asian Ancestry|
8,180 individuals
PGP000835 |
Chen HH et al. Nature (2025)
Reported Trait: Malignant neoplasm of uterus — AUROC: 0.6458 R²: 0.02074 sex, age, array, PCs 1-10 —
PPM036740 PGS018558
(TPMI_182_PRS-CS)
PSS012460|
East Asian Ancestry|
8,180 individuals
PGP000835 |
Chen HH et al. Nature (2025)
Reported Trait: Malignant neoplasm of uterus — AUROC: 0.65064 R²: 0.02185 sex, age, array, PCs 1-10 —
PPM036741 PGS018559
(TPMI_182_SBayesR)
PSS012461|
East Asian Ancestry|
8,180 individuals
PGP000835 |
Chen HH et al. Nature (2025)
Reported Trait: Malignant neoplasm of uterus — AUROC: 0.65041 R²: 0.0221 sex, age, array, PCs 1-10 —
PPM036802 PGS018620
(TPMI_218_Lassosum2)
PSS012528|
East Asian Ancestry|
9,554 individuals
PGP000835 |
Chen HH et al. Nature (2025)
Reported Trait: Benign neoplasm of uterus — AUROC: 0.82762 R²: 0.2413 sex, age, array, PCs 1-10 —
PPM036803 PGS018621
(TPMI_218_LDpred2)
PSS012527|
East Asian Ancestry|
9,554 individuals
PGP000835 |
Chen HH et al. Nature (2025)
Reported Trait: Benign neoplasm of uterus — AUROC: 0.8279 R²: 0.2419 sex, age, array, PCs 1-10 —
PPM036804 PGS018622
(TPMI_218_MegaPRS)
PSS012529|
East Asian Ancestry|
9,554 individuals
PGP000835 |
Chen HH et al. Nature (2025)
Reported Trait: Benign neoplasm of uterus — AUROC: 0.82717 R²: 0.24082 sex, age, array, PCs 1-10 —
PPM036805 PGS018623
(TPMI_218_PRS-CS)
PSS012530|
East Asian Ancestry|
9,554 individuals
PGP000835 |
Chen HH et al. Nature (2025)
Reported Trait: Benign neoplasm of uterus — AUROC: 0.82812 R²: 0.24235 sex, age, array, PCs 1-10 —
PPM036806 PGS018624
(TPMI_218_SBayesR)
PSS012531|
East Asian Ancestry|
9,554 individuals
PGP000835 |
Chen HH et al. Nature (2025)
Reported Trait: Benign neoplasm of uterus — AUROC: 0.82824 R²: 0.24295 sex, age, array, PCs 1-10 —
PPM036807 PGS018625
(TPMI_218.1_Lassosum2)
PSS012523|
East Asian Ancestry|
9,417 individuals
PGP000835 |
Chen HH et al. Nature (2025)
Reported Trait: Uterine leiomyoma — AUROC: 0.83022 R²: 0.23694 sex, age, array, PCs 1-10 —
PPM036808 PGS018626
(TPMI_218.1_LDpred2)
PSS012522|
East Asian Ancestry|
9,417 individuals
PGP000835 |
Chen HH et al. Nature (2025)
Reported Trait: Uterine leiomyoma — AUROC: 0.83104 R²: 0.23821 sex, age, array, PCs 1-10 —
PPM036809 PGS018627
(TPMI_218.1_MegaPRS)
PSS012524|
East Asian Ancestry|
9,417 individuals
PGP000835 |
Chen HH et al. Nature (2025)
Reported Trait: Uterine leiomyoma — AUROC: 0.83009 R²: 0.23677 sex, age, array, PCs 1-10 —
PPM036810 PGS018628
(TPMI_218.1_PRS-CS)
PSS012525|
East Asian Ancestry|
9,417 individuals
PGP000835 |
Chen HH et al. Nature (2025)
Reported Trait: Uterine leiomyoma — AUROC: 0.83054 R²: 0.23802 sex, age, array, PCs 1-10 —
PPM036811 PGS018629
(TPMI_218.1_SBayesR)
PSS012526|
East Asian Ancestry|
9,417 individuals
PGP000835 |
Chen HH et al. Nature (2025)
Reported Trait: Uterine leiomyoma — AUROC: 0.83004 R²: 0.23693 sex, age, array, PCs 1-10 —
PPM037734 PGS019552
(TPMI_615_Lassosum2)
PSS013455|
East Asian Ancestry|
9,559 individuals
PGP000835 |
Chen HH et al. Nature (2025)
Reported Trait: Endometriosis — AUROC: 0.9054 R²: 0.32537 sex, age, array, PCs 1-10 —
PPM037735 PGS019553
(TPMI_615_LDpred2)
PSS013454|
East Asian Ancestry|
9,559 individuals
PGP000835 |
Chen HH et al. Nature (2025)
Reported Trait: Endometriosis — AUROC: 0.90549 R²: 0.32587 sex, age, array, PCs 1-10 —
PPM037736 PGS019554
(TPMI_615_MegaPRS)
PSS013456|
East Asian Ancestry|
9,559 individuals
PGP000835 |
Chen HH et al. Nature (2025)
Reported Trait: Endometriosis — AUROC: 0.90468 R²: 0.32253 sex, age, array, PCs 1-10 —
PPM037737 PGS019555
(TPMI_615_PRS-CS)
PSS013457|
East Asian Ancestry|
9,559 individuals
PGP000835 |
Chen HH et al. Nature (2025)
Reported Trait: Endometriosis — AUROC: 0.90503 R²: 0.32435 sex, age, array, PCs 1-10 —
PPM037738 PGS019556
(TPMI_615_SBayesR)
PSS013458|
East Asian Ancestry|
9,559 individuals
PGP000835 |
Chen HH et al. Nature (2025)
Reported Trait: Endometriosis — AUROC: 0.90476 R²: 0.32287 sex, age, array, PCs 1-10 —

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
PSS013454 617,N80 —
[
  • 598 cases
  • , 8,961 controls
]
,
0.0 % Male samples
— East Asian
(Han Chinese)
— TPMI —
PSS013455 617,N80 —
[
  • 598 cases
  • , 8,961 controls
]
,
0.0 % Male samples
— East Asian
(Han Chinese)
— TPMI —
PSS013456 617,N80 —
[
  • 598 cases
  • , 8,961 controls
]
,
0.0 % Male samples
— East Asian
(Han Chinese)
— TPMI —
PSS013457 617,N80 —
[
  • 598 cases
  • , 8,961 controls
]
,
0.0 % Male samples
— East Asian
(Han Chinese)
— TPMI —
PSS013458 617,N80 —
[
  • 598 cases
  • , 8,961 controls
]
,
0.0 % Male samples
— East Asian
(Han Chinese)
— TPMI —
PSS008669 — — 3,593 individuals — European Italy (South Europe) UKB —
PSS012442 180.0, 180.1, 180.8, 180.9, V10.41,C53 —
[
  • 158 cases
  • , 7,886 controls
]
,
0.0 % Male samples
— East Asian
(Han Chinese)
— TPMI —
PSS012443 180.0, 180.1, 180.8, 180.9, V10.41,C53 —
[
  • 158 cases
  • , 7,886 controls
]
,
0.0 % Male samples
— East Asian
(Han Chinese)
— TPMI —
PSS012444 180.0, 180.1, 180.8, 180.9, V10.41,C53 —
[
  • 158 cases
  • , 7,886 controls
]
,
0.0 % Male samples
— East Asian
(Han Chinese)
— TPMI —
PSS012445 180.0, 180.1, 180.8, 180.9, V10.41,C53 —
[
  • 158 cases
  • , 7,886 controls
]
,
0.0 % Male samples
— East Asian
(Han Chinese)
— TPMI —
PSS008165 — — 2,817 individuals — South Asian India (South Asia) UKB —
PSS012446 180.0, 180.1, 180.8, 180.9, V10.41,C53 —
[
  • 158 cases
  • , 7,886 controls
]
,
0.0 % Male samples
— East Asian
(Han Chinese)
— TPMI —
PSS012452 180, 233.1, 622.1, V10.41,C53, D06, N87 —
[
  • 404 cases
  • , 7,886 controls
]
,
0.0 % Male samples
— East Asian
(Han Chinese)
— TPMI —
PSS012453 180, 233.1, 622.1, V10.41,C53, D06, N87 —
[
  • 404 cases
  • , 7,886 controls
]
,
0.0 % Male samples
— East Asian
(Han Chinese)
— TPMI —
PSS012454 180, 233.1, 622.1, V10.41,C53, D06, N87 —
[
  • 404 cases
  • , 7,886 controls
]
,
0.0 % Male samples
— East Asian
(Han Chinese)
— TPMI —
PSS012455 180, 233.1, 622.1, V10.41,C53, D06, N87 —
[
  • 404 cases
  • , 7,886 controls
]
,
0.0 % Male samples
— East Asian
(Han Chinese)
— TPMI —
PSS012456 180, 233.1, 622.1, V10.41,C53, D06, N87 —
[
  • 404 cases
  • , 7,886 controls
]
,
0.0 % Male samples
— East Asian
(Han Chinese)
— TPMI —
PSS012457 179, 182, 233.2, V10.42,C54, C55, D07.0, Z85.42 —
[
  • 279 cases
  • , 7,901 controls
]
,
0.0 % Male samples
— East Asian
(Han Chinese)
— TPMI —
PSS012458 179, 182, 233.2, V10.42,C54, C55, D07.0, Z85.42 —
[
  • 279 cases
  • , 7,901 controls
]
,
0.0 % Male samples
— East Asian
(Han Chinese)
— TPMI —
PSS012459 179, 182, 233.2, V10.42,C54, C55, D07.0, Z85.42 —
[
  • 279 cases
  • , 7,901 controls
]
,
0.0 % Male samples
— East Asian
(Han Chinese)
— TPMI —
PSS012460 179, 182, 233.2, V10.42,C54, C55, D07.0, Z85.42 —
[
  • 279 cases
  • , 7,901 controls
]
,
0.0 % Male samples
— East Asian
(Han Chinese)
— TPMI —
PSS012461 179, 182, 233.2, V10.42,C54, C55, D07.0, Z85.42 —
[
  • 279 cases
  • , 7,901 controls
]
,
0.0 % Male samples
— East Asian
(Han Chinese)
— TPMI —
PSS009591 — — 26,637 individuals,
0.0 % Male samples
Mean = 67.04 years
Sd = 19.14 years
European
(White)
— eMERGE —
PSS007718 — —
[
  • 1,323 cases
  • , 168,952 controls
]
— European — UKB —
PSS008223 — — 2,826 individuals — South Asian India (South Asia) UKB —
PSS012522 218,D25 —
[
  • 938 cases
  • , 8,479 controls
]
,
0.0 % Male samples
— East Asian
(Han Chinese)
— TPMI —
PSS012523 218,D25 —
[
  • 938 cases
  • , 8,479 controls
]
,
0.0 % Male samples
— East Asian
(Han Chinese)
— TPMI —
PSS012524 218,D25 —
[
  • 938 cases
  • , 8,479 controls
]
,
0.0 % Male samples
— East Asian
(Han Chinese)
— TPMI —
PSS012525 218,D25 —
[
  • 938 cases
  • , 8,479 controls
]
,
0.0 % Male samples
— East Asian
(Han Chinese)
— TPMI —
PSS007733 — — 1,520 individuals — African American or Afro-Caribbean Carribean UKB —
PSS012527 218, 219,D25, D26 —
[
  • 1,075 cases
  • , 8,479 controls
]
,
0.0 % Male samples
— East Asian
(Han Chinese)
— TPMI —
PSS012528 218, 219,D25, D26 —
[
  • 1,075 cases
  • , 8,479 controls
]
,
0.0 % Male samples
— East Asian
(Han Chinese)
— TPMI —
PSS012529 218, 219,D25, D26 —
[
  • 1,075 cases
  • , 8,479 controls
]
,
0.0 % Male samples
— East Asian
(Han Chinese)
— TPMI —
PSS009907 — —
[
  • 1,676 cases
  • , 116,960 controls
]
,
0.0 % Male samples
— European — NR UKB
PSS012531 218, 219,D25, D26 —
[
  • 1,075 cases
  • , 8,479 controls
]
,
0.0 % Male samples
— East Asian
(Han Chinese)
— TPMI —
PSS012530 218, 219,D25, D26 —
[
  • 1,075 cases
  • , 8,479 controls
]
,
0.0 % Male samples
— East Asian
(Han Chinese)
— TPMI —
PSS012526 218,D25 —
[
  • 938 cases
  • , 8,479 controls
]
,
0.0 % Male samples
— East Asian
(Han Chinese)
— TPMI —
PSS009283 — — 10,254 individuals — European UK (+ Ireland) UKB —
PSS011943 ICD-10: C53 Median = 11.33 years
Range = [10.18, 12.26] years
[
  • 237 cases
  • , 57,122 controls
]
,
0.0 % Male samples
Mean = 53.69 years
Sd = 11.01 years
East Asian
(Chinese)
— CKB —
PSS007788 — — 1,515 individuals — African American or Afro-Caribbean Carribean UKB —
PSS009341 — — 10,566 individuals — European UK (+ Ireland) UKB —
PSS008836 — — 2,067 individuals — African unspecified Nigeria (West Africa) UKB —
PSS010075 C53 —
[
  • 1,482 cases
  • , 142,892 controls
]
— European
(British)
— UKB Controls were samples without any cancer diagnosis or self-reported cancer
PSS010086 C54 —
[
  • 1,587 cases
  • , 142,892 controls
]
— European
(British)
— UKB Controls were samples without any cancer diagnosis or self-reported cancer
PSS009660 endometrial cancer (ICD-9 = 182 or ICD-10 = C54) — 629 individuals — European — UKB —
PSS001012 Individuals with at least one recorded incident diagnosis of a borderline, in situ, or malignant primary cancer were defined as cases. —
[
  • 282 cases
  • , 211,513 controls
]
,
0.0 % Male samples
— European — UKB —
PSS001014 Individuals with at least one recorded incident diagnosis of a borderline, in situ, or malignant primary cancer were defined as cases. —
[
  • 643 cases
  • , 211,513 controls
]
,
0.0 % Male samples
— European — UKB —
PSS008892 — — 2,021 individuals — African unspecified Nigeria (West Africa) UKB —
PSS008387 — — 467 individuals — Greater Middle Eastern (Middle Eastern, North African or Persian) Iran (Middle East) UKB —
PSS011328 — — 133,830 individuals,
0.0 % Male samples
— European
(British)
— UKB —
PSS000571 PheCode:182; ICD9:179, 182, 182.0, 182.1, 182.8, 233.2; ICD10:C54.0, C54.1, C54.2, C54.3, C54.8, C54.9, C55, D07.0 —
[
  • 634 cases
  • , 6,353 controls
]
— European — UKB —
PSS004432 — —
[
  • 389 cases
  • , 6,108 controls
]
— African unspecified — UKB —
PSS004433 — —
[
  • 28 cases
  • , 1,676 controls
]
— East Asian — UKB —
PSS004434 — —
[
  • 406 cases
  • , 24,499 controls
]
— European non-white British ancestry UKB —
PSS004435 — —
[
  • 88 cases
  • , 7,743 controls
]
— South Asian — UKB —
PSS004436 — —
[
  • 1,148 cases
  • , 66,277 controls
]
— European white British ancestry UKB Testing cohort (heldout set)
PSS010125 C53, D06 —
[
  • 235 cases
  • , 127,878 controls
]
,
0.0 % Male samples
— European — EB —
PSS008443 — — 468 individuals — Greater Middle Eastern (Middle Eastern, North African or Persian) Iran (Middle East) UKB —
PSS007952 — — 1,164 individuals — East Asian China (East Asia) UKB —
PSS010152 — —
[
  • 35 cases
  • , 459 controls
]
,
0.0 % Male samples
— European — UKB —
PSS010164 Surgically confirmed or ICD10 code cases (N80.1-N80.9). —
[
  • 389 cases
  • , 664 controls
]
,
0.0 % Male samples
— Not reported
(Danish)
— Aalborg, Aarhus, DTR —
PSS010166 ICD10 codes N80.4, N80.5 —
[
  • 210 cases
  • , 664 controls
]
,
0.0 % Male samples
— Not reported
(Danish)
— Aalborg, Aarhus, DTR —
PSS010167 ICD10 codes N80.6, N80.8, N80.9 —
[
  • 44 cases
  • , 664 controls
]
,
0.0 % Male samples
— Not reported
(Danish)
— Aalborg, Aarhus, DTR —
PSS010168 ICD10 code N80.1 —
[
  • 75 cases
  • , 664 controls
]
,
0.0 % Male samples
— Not reported
(Danish)
— Aalborg, Aarhus, DTR —
PSS010169 ICD10 codes N80.2, N80.3 —
[
  • 60 cases
  • , 664 controls
]
,
0.0 % Male samples
— Not reported
(Danish)
— Aalborg, Aarhus, DTR —
PSS010170 ICD10 code N80.0 —
[
  • 1,883 cases
  • , 256,222 controls
]
,
0.0 % Male samples
— European
(white British)
— UKB —
PSS010171 ICD10 codes (N80.1-N80.9) or self-reported cases. —
[
  • 2,967 cases
  • , 256,222 controls
]
,
0.0 % Male samples
— European
(British)
— UKB —
PSS010172 ICD10 codes N80.4, N80.5 —
[
  • 105 cases
  • , 256,222 controls
]
,
0.0 % Male samples
— European
(white British)
— UKB —
PSS010173 ICD10 codes N80.6, N80.8, N80.9 —
[
  • 968 cases
  • , 256,222 controls
]
,
0.0 % Male samples
— European
(white British)
— UKB —
PSS010174 ICD10 code N80.1 —
[
  • 1,158 cases
  • , 256,222 controls
]
,
0.0 % Male samples
— European
(white British)
— UKB —
PSS010175 ICD10 codes N80.2, N80.3 —
[
  • 736 cases
  • , 256,222 controls
]
,
0.0 % Male samples
— European
(white British)
— UKB —
PSS008004 — — 1,175 individuals — East Asian China (East Asia) UKB —
PSS010989 — — 372 individuals Mean = 64.72 years European — TCGA —
PSS007631 — —
[
  • 28 cases
  • , 6,469 controls
]
— African unspecified — UKB —
PSS007632 — —
[
  • 6 cases
  • , 1,698 controls
]
— East Asian — UKB —
PSS007633 — —
[
  • 231 cases
  • , 24,674 controls
]
— European non-white British ancestry UKB —
PSS007634 — —
[
  • 13 cases
  • , 7,818 controls
]
— South Asian — UKB —
PSS007635 — —
[
  • 561 cases
  • , 66,864 controls
]
— European white British ancestry UKB Testing cohort (heldout set)
PSS009057 — — 2,468 individuals — European Poland (NE Europe) UKB —
PSS009115 — — 2,514 individuals — European Poland (NE Europe) UKB —
PSS008611 — — 3,518 individuals — European Italy (South Europe) UKB —
PSS000112 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): 27010 —
[
  • 6,568 cases
  • , 219,648 controls
]
,
0.0 % Male samples
— European — GERA, UKB —
PSS000114 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): 27020 —
[
  • 2,051 cases
  • , 219,648 controls
]
,
0.0 % Male samples
— European — GERA, UKB —