Trait: colonic disorder

Trait Information
Identifier MONDO_0003409
Description Pathological processes in the colon region of the large intestine (intestine, large). [MESH: D003108]
Trait categories
Digestive system disorder
Other disease
Synonyms 5 synonyms
  • colon disease
  • colon disease or disorder
  • disease of colon
  • disease or disorder of colon
  • disorder of colon
Child trait(s) 7 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 "colonic 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)
PGS000376
(PRSWEB_PHECODE153.2_C18_PRS-CS_MGI_20200608)
 PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
 Colon cancer colon carcinoma 1,111,490
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000376/ScoringFiles/PGS000376.txt.gz
PGS000377
(PRSWEB_PHECODE153.2_C18_LASSOSUM_MGI_20200608)
 PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
 Colon cancer colon carcinoma 5,740,814
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000377/ScoringFiles/PGS000377.txt.gz
PGS000378
(PRSWEB_PHECODE153.2_C3-COLON_PRS-CS_MGI_20200608)
 PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
 Colon cancer colon carcinoma 1,111,399
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000378/ScoringFiles/PGS000378.txt.gz
PGS000379
(PRSWEB_PHECODE153.2_C3-COLON_LASSOSUM_MGI_20200608)
 PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
 Colon cancer colon carcinoma 5,715,093
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000379/ScoringFiles/PGS000379.txt.gz
PGS000380
(PRSWEB_PHECODE153.2_UKBB-SAIGE-HRC-X153.2_PRS-CS_MGI_20200608)
 PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
 Colon cancer colon carcinoma 1,119,238
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000380/ScoringFiles/PGS000380.txt.gz
PGS000381
(PRSWEB_PHECODE153.2_UKBB-SAIGE-HRC-X153.2_PT_MGI_20200608)
 PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
 Colon cancer colon carcinoma 12
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000381/ScoringFiles/PGS000381.txt.gz
PGS000382
(PRSWEB_PHECODE153.2_UKBB-SAIGE-HRC-X153.2_LASSOSUM_MGI_20200608)
 PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
 Colon cancer colon carcinoma 150
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000382/ScoringFiles/PGS000382.txt.gz
PGS000383
(PRSWEB_PHECODE153.3_C19_PRS-CS_MGI_20200608)
 PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
 Malignant neoplasm of rectum, rectosigmoid junction, and anus rectosigmoid junction neoplasm,
rectal cancer		 1,078,799
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000383/ScoringFiles/PGS000383.txt.gz
PGS000384
(PRSWEB_PHECODE153.3_C3-RECTUM_PRS-CS_MGI_20200608)
 PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
 Malignant neoplasm of rectum, rectosigmoid junction, and anus rectosigmoid junction neoplasm,
rectal cancer		 1,104,018
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000384/ScoringFiles/PGS000384.txt.gz
PGS001306
(GBE_HC201)
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Ulcerative colitis ulcerative colitis 179
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001306/ScoringFiles/PGS001306.txt.gz
PGS001307
(GBE_HC1102)
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Ulcerative colitis (time-to-event) ulcerative colitis 809
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001307/ScoringFiles/PGS001307.txt.gz
PGS001369
(GBE_HC1090)
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Acute appendicitis (time-to-event) appendicitis 4
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001369/ScoringFiles/PGS001369.txt.gz
PGS001785
(1kgeur_gbmi_leaveUKBBout_AcApp_pst_eff_a1_b0.5_phiauto)
 PGP000262 |
Wang Y et al. Cell Genom (2023)
 Acute appendicitis appendicitis 911,334
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001785/ScoringFiles/PGS001785.txt.gz
PGS001811
(portability-PLR_208)
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Benign neoplasm of colon benign colon neoplasm 2,231
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001811/ScoringFiles/PGS001811.txt.gz
PGS001855
(portability-PLR_555.2)
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Ulcerative colitis ulcerative colitis 1,505
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001855/ScoringFiles/PGS001855.txt.gz
PGS002019
(portability-ldpred2_208)
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Benign neoplasm of colon benign colon neoplasm 667,546
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002019/ScoringFiles/PGS002019.txt.gz
PGS002066
(portability-ldpred2_555.2)
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Ulcerative colitis ulcerative colitis 566,637
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002066/ScoringFiles/PGS002066.txt.gz
PGS004253
(uc_ldpred2)
 PGP000545 |
Middha P et al. Nat Commun (2024)
 Ulcerative colitis ulcerative colitis 744,575
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004253/ScoringFiles/PGS004253.txt.gz
PGS004876
(INTERVENE_MegaPRS_Appendicitis)
 PGP000618 |
Jermy B et al. Nat Commun (2024)
 Appendicitis appendicitis 601,835
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004876/ScoringFiles/PGS004876.txt.gz
PGS005151
(Colon polyp (CT-SLEB; EAS+EUR))
 PGP000704 |
Jung HU et al. Commun Biol (2025)
 Colon polyp polyp of colon 496,139
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS005151/ScoringFiles/PGS005151.txt.gz
PGS018490
(TPMI_153.2_Lassosum2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Colon cancer malignant colon neoplasm 13,140
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018490/ScoringFiles/PGS018490.txt.gz
PGS018491
(TPMI_153.2_LDpred2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Colon cancer malignant colon neoplasm 939,847
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018491/ScoringFiles/PGS018491.txt.gz
PGS018492
(TPMI_153.2_MegaPRS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Colon cancer malignant colon neoplasm 32,744
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018492/ScoringFiles/PGS018492.txt.gz
PGS018493
(TPMI_153.2_PRS-CS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Colon cancer malignant colon neoplasm 983,802
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018493/ScoringFiles/PGS018493.txt.gz
PGS018494
(TPMI_153.2_SBayesR)
 PGP000835 |
Chen HH et al. Nature (2025)
 Colon cancer malignant colon neoplasm 996,354
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018494/ScoringFiles/PGS018494.txt.gz
PGS018495
(TPMI_153.3_Lassosum2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Malignant neoplasm of rectum rectosigmoid junction and anus rectosigmoid junction neoplasm 133,830
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018495/ScoringFiles/PGS018495.txt.gz
PGS018496
(TPMI_153.3_LDpred2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Malignant neoplasm of rectum rectosigmoid junction and anus rectosigmoid junction neoplasm 939,895
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018496/ScoringFiles/PGS018496.txt.gz
PGS018497
(TPMI_153.3_MegaPRS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Malignant neoplasm of rectum rectosigmoid junction and anus rectosigmoid junction neoplasm 21,604
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018497/ScoringFiles/PGS018497.txt.gz
PGS018498
(TPMI_153.3_PRS-CS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Malignant neoplasm of rectum rectosigmoid junction and anus rectosigmoid junction neoplasm 983,831
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018498/ScoringFiles/PGS018498.txt.gz
PGS018499
(TPMI_153.3_SBayesR)
 PGP000835 |
Chen HH et al. Nature (2025)
 Malignant neoplasm of rectum rectosigmoid junction and anus rectosigmoid junction neoplasm 1,000,378
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018499/ScoringFiles/PGS018499.txt.gz
PGS018610
(TPMI_208_Lassosum2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Benign neoplasm of colon benign colon neoplasm 1,006
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018610/ScoringFiles/PGS018610.txt.gz
PGS018611
(TPMI_208_LDpred2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Benign neoplasm of colon benign colon neoplasm 939,899
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018611/ScoringFiles/PGS018611.txt.gz
PGS018612
(TPMI_208_MegaPRS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Benign neoplasm of colon benign colon neoplasm 474,603
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018612/ScoringFiles/PGS018612.txt.gz
PGS018613
(TPMI_208_PRS-CS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Benign neoplasm of colon benign colon neoplasm 983,832
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018613/ScoringFiles/PGS018613.txt.gz
PGS018614
(TPMI_208_SBayesR)
 PGP000835 |
Chen HH et al. Nature (2025)
 Benign neoplasm of colon benign colon neoplasm 933,825
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018614/ScoringFiles/PGS018614.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
PPM001061 PGS000376
(PRSWEB_PHECODE153.2_C18_PRS-CS_MGI_20200608)
 PSS000538|
European Ancestry|
5,031 individuals
 PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
 Reported Trait: Colon cancer OR: 1.177 [1.069, 1.297]
β: 0.163 (0.0491)		 AUROC: 0.547 [0.518, 0.576] Nagelkerke's Pseudo-R²: 0.0046
Brier score: 0.0832
Odds Ratio (OR, top 1% vs. Rest): 1.65 [0.753, 3.61]		 age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE153.2_C18_PRS-CS_MGI_20200608
PPM001062 PGS000377
(PRSWEB_PHECODE153.2_C18_LASSOSUM_MGI_20200608)
 PSS000538|
European Ancestry|
5,031 individuals
 PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
 Reported Trait: Colon cancer OR: 1.174 [1.066, 1.292]
β: 0.16 (0.049)		 AUROC: 0.545 [0.518, 0.574] Nagelkerke's Pseudo-R²: 0.00441
Brier score: 0.0831
Odds Ratio (OR, top 1% vs. Rest): 1.4 [0.607, 3.22]		 age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE153.2_C18_LASSOSUM_MGI_20200608
PPM001063 PGS000378
(PRSWEB_PHECODE153.2_C3-COLON_PRS-CS_MGI_20200608)
 PSS000538|
European Ancestry|
5,031 individuals
 PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
 Reported Trait: Colon cancer OR: 1.141 [1.038, 1.254]
β: 0.132 (0.0484)		 AUROC: 0.536 [0.509, 0.565] Nagelkerke's Pseudo-R²: 0.00301
Brier score: 0.0832
Odds Ratio (OR, top 1% vs. Rest): 1.82 [0.867, 3.84]		 age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE153.2_C3-COLON_PRS-CS_MGI_20200608
PPM001064 PGS000379
(PRSWEB_PHECODE153.2_C3-COLON_LASSOSUM_MGI_20200608)
 PSS000538|
European Ancestry|
5,031 individuals
 PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
 Reported Trait: Colon cancer OR: 1.143 [1.038, 1.258]
β: 0.134 (0.049)		 AUROC: 0.536 [0.51, 0.567] Nagelkerke's Pseudo-R²: 0.00302
Brier score: 0.0832
Odds Ratio (OR, top 1% vs. Rest): 0.757 [0.252, 2.28]		 age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE153.2_C3-COLON_LASSOSUM_MGI_20200608
PPM001065 PGS000380
(PRSWEB_PHECODE153.2_UKBB-SAIGE-HRC-X153.2_PRS-CS_MGI_20200608)
 PSS000538|
European Ancestry|
5,031 individuals
 PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
 Reported Trait: Colon cancer OR: 1.324 [1.203, 1.457]
β: 0.281 (0.0489)		 AUROC: 0.569 [0.539, 0.599] Nagelkerke's Pseudo-R²: 0.0138
Brier score: 0.0827
Odds Ratio (OR, top 1% vs. Rest): 3.85 [2.19, 6.77]		 age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE153.2_UKBB-SAIGE-HRC-X153.2_PRS-CS_MGI_20200608
PPM001066 PGS000381
(PRSWEB_PHECODE153.2_UKBB-SAIGE-HRC-X153.2_PT_MGI_20200608)
 PSS000538|
European Ancestry|
5,031 individuals
 PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
 Reported Trait: Colon cancer OR: 1.212 [1.105, 1.33]
β: 0.193 (0.0472)		 AUROC: 0.55 [0.522, 0.577] Nagelkerke's Pseudo-R²: 0.00703
Brier score: 0.0831
Odds Ratio (OR, top 1% vs. Rest): 1.6 [0.733, 3.51]		 age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE153.2_UKBB-SAIGE-HRC-X153.2_PT_MGI_20200608
PPM001067 PGS000382
(PRSWEB_PHECODE153.2_UKBB-SAIGE-HRC-X153.2_LASSOSUM_MGI_20200608)
 PSS000538|
European Ancestry|
5,031 individuals
 PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
 Reported Trait: Colon cancer OR: 1.247 [1.134, 1.371]
β: 0.221 (0.0483)		 AUROC: 0.567 [0.54, 0.594] Nagelkerke's Pseudo-R²: 0.00899
Brier score: 0.083
Odds Ratio (OR, top 1% vs. Rest): 1.17 [0.477, 2.87]		 age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE153.2_UKBB-SAIGE-HRC-X153.2_LASSOSUM_MGI_20200608
PPM001068 PGS000383
(PRSWEB_PHECODE153.3_C19_PRS-CS_MGI_20200608)
 PSS000539|
European Ancestry|
3,557 individuals
 PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
 Reported Trait: Malignant neoplasm of rectum, rectosigmoid junction, and anus OR: 1.126 [1.005, 1.262]
β: 0.119 (0.0579)		 AUROC: 0.533 [0.5, 0.567] Nagelkerke's Pseudo-R²: 0.00257
Brier score: 0.0829
Odds Ratio (OR, top 1% vs. Rest): 1.34 [0.491, 3.65]		 age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE153.3_C19_PRS-CS_MGI_20200608
PPM001069 PGS000384
(PRSWEB_PHECODE153.3_C3-RECTUM_PRS-CS_MGI_20200608)
 PSS000539|
European Ancestry|
3,557 individuals
 PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
 Reported Trait: Malignant neoplasm of rectum, rectosigmoid junction, and anus OR: 1.122 [1.001, 1.257]
β: 0.115 (0.058)		 AUROC: 0.531 [0.495, 0.563] Nagelkerke's Pseudo-R²: 0.00251
Brier score: 0.0829
Odds Ratio (OR, top 1% vs. Rest): 1.02 [0.334, 3.14]		 age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE153.3_C3-RECTUM_PRS-CS_MGI_20200608
PPM009024 PGS001306
(GBE_HC201)
 PSS004339|
African Ancestry|
6,497 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Ulcerative colitis — AUROC: 0.62904 [0.5093, 0.74878] R²: 0.04535
Incremental AUROC (full-covars): -0.00864
PGS R2 (no covariates): 0.00044
PGS AUROC (no covariates): 0.51081 [0.37987, 0.64174]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009025 PGS001306
(GBE_HC201)
 PSS004340|
East Asian Ancestry|
1,704 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Ulcerative colitis — AUROC: 0.89429 [0.79357, 0.99502] R²: 0.20499
Incremental AUROC (full-covars): -0.0033
PGS R2 (no covariates): 2e-05
PGS AUROC (no covariates): 0.49111 [0.35854, 0.62368]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009026 PGS001306
(GBE_HC201)
 PSS004341|
European Ancestry|
24,905 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Ulcerative colitis — AUROC: 0.66162 [0.6277, 0.69554] R²: 0.03336
Incremental AUROC (full-covars): 0.04247
PGS R2 (no covariates): 0.02036
PGS AUROC (no covariates): 0.63006 [0.5958, 0.66432]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009027 PGS001306
(GBE_HC201)
 PSS004342|
South Asian Ancestry|
7,831 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Ulcerative colitis — AUROC: 0.67522 [0.62537, 0.72506] R²: 0.03696
Incremental AUROC (full-covars): 0.01011
PGS R2 (no covariates): 0.00545
PGS AUROC (no covariates): 0.56552 [0.50815, 0.62289]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009028 PGS001306
(GBE_HC201)
 PSS004343|
European Ancestry|
67,425 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Ulcerative colitis — AUROC: 0.6157 [0.59481, 0.63659] PGS R2 (no covariates): 0.0193
R²: 0.01676
Incremental AUROC (full-covars): 0.08728
PGS AUROC (no covariates): 0.62452 [0.60374, 0.6453]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009029 PGS001307
(GBE_HC1102)
 PSS004119|
African Ancestry|
6,497 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE ulcerative colitis — AUROC: 0.62873 [0.51002, 0.74744] R²: 0.04344
Incremental AUROC (full-covars): -0.00895
PGS R2 (no covariates): 0.00027
PGS AUROC (no covariates): 0.50641 [0.39121, 0.62161]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009030 PGS001307
(GBE_HC1102)
 PSS004120|
East Asian Ancestry|
1,704 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE ulcerative colitis — AUROC: 0.89582 [0.79576, 0.99588] R²: 0.20607
Incremental AUROC (full-covars): -0.00177
PGS R2 (no covariates): 0.00203
PGS AUROC (no covariates): 0.55433 [0.4473, 0.66136]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009031 PGS001307
(GBE_HC1102)
 PSS004121|
European Ancestry|
24,905 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE ulcerative colitis — AUROC: 0.65578 [0.62353, 0.68804] R²: 0.03272
Incremental AUROC (full-covars): 0.04212
PGS R2 (no covariates): 0.0169
PGS AUROC (no covariates): 0.6106 [0.57717, 0.64402]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009032 PGS001307
(GBE_HC1102)
 PSS004122|
South Asian Ancestry|
7,831 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE ulcerative colitis — AUROC: 0.66008 [0.61042, 0.70974] R²: 0.03192
Incremental AUROC (full-covars): 0.00203
PGS R2 (no covariates): 0.0036
PGS AUROC (no covariates): 0.55808 [0.506, 0.61016]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009033 PGS001307
(GBE_HC1102)
 PSS004123|
European Ancestry|
67,425 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE ulcerative colitis — AUROC: 0.63965 [0.62036, 0.65895] R²: 0.02376
Incremental AUROC (full-covars): 0.1085
PGS R2 (no covariates): 0.02383
PGS AUROC (no covariates): 0.63847 [0.61861, 0.65833]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM005205 PGS001369
(GBE_HC1090)
 PSS004099|
African Ancestry|
6,497 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE acute appendicitis — AUROC: 0.62041 [0.53518, 0.70564] R²: 0.03016
Incremental AUROC (full-covars): -0.00198
PGS R2 (no covariates): 0.00105
PGS AUROC (no covariates): 0.47489 [0.37525, 0.57453]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM005206 PGS001369
(GBE_HC1090)
 PSS004100|
East Asian Ancestry|
1,704 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE acute appendicitis — AUROC: 0.8493 [0.77779, 0.9208] R²: 0.14577
Incremental AUROC (full-covars): 0.00105
PGS R2 (no covariates): 0.00332
PGS AUROC (no covariates): 0.51032 [0.33889, 0.68176]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM005207 PGS001369
(GBE_HC1090)
 PSS004101|
European Ancestry|
24,905 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE acute appendicitis — AUROC: 0.56849 [0.52835, 0.60862] R²: 0.00702
Incremental AUROC (full-covars): -0.00219
PGS R2 (no covariates): 0.0
PGS AUROC (no covariates): 0.49616 [0.45378, 0.53854]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM005208 PGS001369
(GBE_HC1090)
 PSS004102|
South Asian Ancestry|
7,831 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE acute appendicitis — AUROC: 0.72977 [0.65912, 0.80042] R²: 0.05613
Incremental AUROC (full-covars): 0.00039
PGS R2 (no covariates): 0.00096
PGS AUROC (no covariates): 0.5334 [0.44427, 0.62254]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM005209 PGS001369
(GBE_HC1090)
 PSS004103|
European Ancestry|
67,425 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE acute appendicitis — AUROC: 0.57413 [0.55138, 0.59688] R²: 0.00617
Incremental AUROC (full-covars): 0.00987
PGS R2 (no covariates): 0.00332
PGS AUROC (no covariates): 0.55036 [0.52746, 0.57326]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009289 PGS001785
(1kgeur_gbmi_leaveUKBBout_AcApp_pst_eff_a1_b0.5_phiauto)
 PSS007708|
European Ancestry|
359,031 individuals
 PGP000262 |
Wang Y et al. Cell Genom (2023)
 Reported Trait: Acute appendicitis — AUROC: 0.584 Nagelkerke's R2 (covariates regressed out): 0.00406 sex,age,age2,age*sex,age^2*sex, 20PCs —
PPM009388 PGS001811
(portability-PLR_208)
 PSS009281|
European Ancestry|
19,812 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Benign neoplasm of colon — — Partial Correlation (partial-r): 0.0643 [0.0504, 0.0782] sex, age, birth date, deprivation index, 16 PCs —
PPM009389 PGS001811
(portability-PLR_208)
 PSS009055|
European Ancestry|
4,121 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Benign neoplasm of colon — — Partial Correlation (partial-r): 0.0651 [0.0345, 0.0955] sex, age, birth date, deprivation index, 16 PCs —
PPM009390 PGS001811
(portability-PLR_208)
 PSS008609|
European Ancestry|
6,617 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Benign neoplasm of colon — — Partial Correlation (partial-r): 0.0584 [0.0343, 0.0824] sex, age, birth date, deprivation index, 16 PCs —
PPM009391 PGS001811
(portability-PLR_208)
 PSS008385|
Greater Middle Eastern Ancestry|
1,194 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Benign neoplasm of colon — — Partial Correlation (partial-r): 0.0914 [0.0344, 0.1478] sex, age, birth date, deprivation index, 16 PCs —
PPM009392 PGS001811
(portability-PLR_208)
 PSS008163|
South Asian Ancestry|
6,307 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Benign neoplasm of colon — — Partial Correlation (partial-r): 0.023 [-0.0017, 0.0477] sex, age, birth date, deprivation index, 16 PCs —
PPM009393 PGS001811
(portability-PLR_208)
 PSS007950|
East Asian Ancestry|
1,800 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Benign neoplasm of colon — — Partial Correlation (partial-r): 0.0293 [-0.0171, 0.0757] sex, age, birth date, deprivation index, 16 PCs —
PPM009394 PGS001811
(portability-PLR_208)
 PSS007731|
African Ancestry|
2,469 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Benign neoplasm of colon — — Partial Correlation (partial-r): 0.0518 [0.0122, 0.0912] sex, age, birth date, deprivation index, 16 PCs —
PPM009395 PGS001811
(portability-PLR_208)
 PSS008834|
African Ancestry|
3,905 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Benign neoplasm of colon — — Partial Correlation (partial-r): 0.0459 [0.0145, 0.0772] sex, age, birth date, deprivation index, 16 PCs —
PPM009730 PGS001855
(portability-PLR_555.2)
 PSS009330|
European Ancestry|
16,188 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Ulcerative colitis — — Partial Correlation (partial-r): 0.0625 [0.0471, 0.0778] sex, age, birth date, deprivation index, 16 PCs —
PPM009732 PGS001855
(portability-PLR_555.2)
 PSS008658|
European Ancestry|
5,477 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Ulcerative colitis — — Partial Correlation (partial-r): 0.0453 [0.0188, 0.0717] sex, age, birth date, deprivation index, 16 PCs —
PPM009733 PGS001855
(portability-PLR_555.2)
 PSS008432|
Greater Middle Eastern Ancestry|
1,007 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Ulcerative colitis — — Partial Correlation (partial-r): 0.0175 [-0.0449, 0.0799] sex, age, birth date, deprivation index, 16 PCs —
PPM009734 PGS001855
(portability-PLR_555.2)
 PSS008212|
South Asian Ancestry|
5,337 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Ulcerative colitis — — Partial Correlation (partial-r): 0.0407 [0.0139, 0.0676] sex, age, birth date, deprivation index, 16 PCs —
PPM009735 PGS001855
(portability-PLR_555.2)
 PSS007994|
East Asian Ancestry|
1,630 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Ulcerative colitis — — Partial Correlation (partial-r): 0.0382 [-0.0107, 0.0868] sex, age, birth date, deprivation index, 16 PCs —
PPM009736 PGS001855
(portability-PLR_555.2)
 PSS007777|
African Ancestry|
2,105 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Ulcerative colitis — — Partial Correlation (partial-r): 0.031 [-0.0119, 0.0738] sex, age, birth date, deprivation index, 16 PCs —
PPM009737 PGS001855
(portability-PLR_555.2)
 PSS008881|
African Ancestry|
3,465 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Ulcerative colitis — — Partial Correlation (partial-r): -0.0003 [-0.0337, 0.0331] sex, age, birth date, deprivation index, 16 PCs —
PPM009731 PGS001855
(portability-PLR_555.2)
 PSS009104|
European Ancestry|
3,520 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Ulcerative colitis — — Partial Correlation (partial-r): 0.0367 [0.0036, 0.0698] sex, age, birth date, deprivation index, 16 PCs —
PPM011026 PGS002019
(portability-ldpred2_208)
 PSS009281|
European Ancestry|
19,812 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Benign neoplasm of colon — — Partial Correlation (partial-r): 0.0716 [0.0577, 0.0854] sex, age, birth date, deprivation index, 16 PCs —
PPM011027 PGS002019
(portability-ldpred2_208)
 PSS009055|
European Ancestry|
4,121 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Benign neoplasm of colon — — Partial Correlation (partial-r): 0.0761 [0.0456, 0.1065] sex, age, birth date, deprivation index, 16 PCs —
PPM011028 PGS002019
(portability-ldpred2_208)
 PSS008609|
European Ancestry|
6,617 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Benign neoplasm of colon — — Partial Correlation (partial-r): 0.0659 [0.0418, 0.0899] sex, age, birth date, deprivation index, 16 PCs —
PPM011029 PGS002019
(portability-ldpred2_208)
 PSS008385|
Greater Middle Eastern Ancestry|
1,194 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Benign neoplasm of colon — — Partial Correlation (partial-r): 0.0966 [0.0396, 0.153] sex, age, birth date, deprivation index, 16 PCs —
PPM011030 PGS002019
(portability-ldpred2_208)
 PSS008163|
South Asian Ancestry|
6,307 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Benign neoplasm of colon — — Partial Correlation (partial-r): 0.0398 [0.0151, 0.0645] sex, age, birth date, deprivation index, 16 PCs —
PPM011031 PGS002019
(portability-ldpred2_208)
 PSS007950|
East Asian Ancestry|
1,800 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Benign neoplasm of colon — — Partial Correlation (partial-r): 0.0601 [0.0137, 0.1063] sex, age, birth date, deprivation index, 16 PCs —
PPM011032 PGS002019
(portability-ldpred2_208)
 PSS007731|
African Ancestry|
2,469 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Benign neoplasm of colon — — Partial Correlation (partial-r): 0.0409 [0.0012, 0.0803] sex, age, birth date, deprivation index, 16 PCs —
PPM011033 PGS002019
(portability-ldpred2_208)
 PSS008834|
African Ancestry|
3,905 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Benign neoplasm of colon — — Partial Correlation (partial-r): 0.0603 [0.0289, 0.0916] sex, age, birth date, deprivation index, 16 PCs —
PPM011390 PGS002066
(portability-ldpred2_555.2)
 PSS009330|
European Ancestry|
16,188 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Ulcerative colitis — — Partial Correlation (partial-r): 0.0641 [0.0487, 0.0794] sex, age, birth date, deprivation index, 16 PCs —
PPM011391 PGS002066
(portability-ldpred2_555.2)
 PSS009104|
European Ancestry|
3,520 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Ulcerative colitis — — Partial Correlation (partial-r): 0.0466 [0.0135, 0.0796] sex, age, birth date, deprivation index, 16 PCs —
PPM011392 PGS002066
(portability-ldpred2_555.2)
 PSS008658|
European Ancestry|
5,477 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Ulcerative colitis — — Partial Correlation (partial-r): 0.0426 [0.0161, 0.0691] sex, age, birth date, deprivation index, 16 PCs —
PPM011393 PGS002066
(portability-ldpred2_555.2)
 PSS008432|
Greater Middle Eastern Ancestry|
1,007 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Ulcerative colitis — — Partial Correlation (partial-r): 0.0056 [-0.0568, 0.068] sex, age, birth date, deprivation index, 16 PCs —
PPM011395 PGS002066
(portability-ldpred2_555.2)
 PSS007994|
East Asian Ancestry|
1,630 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Ulcerative colitis — — Partial Correlation (partial-r): 0.0398 [-0.009, 0.0885] sex, age, birth date, deprivation index, 16 PCs —
PPM011396 PGS002066
(portability-ldpred2_555.2)
 PSS007777|
African Ancestry|
2,105 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Ulcerative colitis — — Partial Correlation (partial-r): 0.0272 [-0.0157, 0.0701] sex, age, birth date, deprivation index, 16 PCs —
PPM011397 PGS002066
(portability-ldpred2_555.2)
 PSS008881|
African Ancestry|
3,465 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Ulcerative colitis — — Partial Correlation (partial-r): 0.0058 [-0.0276, 0.0392] sex, age, birth date, deprivation index, 16 PCs —
PPM011394 PGS002066
(portability-ldpred2_555.2)
 PSS008212|
South Asian Ancestry|
5,337 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Ulcerative colitis — — Partial Correlation (partial-r): 0.0388 [0.0119, 0.0656] sex, age, birth date, deprivation index, 16 PCs —
PPM021728 PGS002066
(portability-ldpred2_555.2)
 PSS011762|
European Ancestry|
8,417 individuals
 PGP000665 |
Moreno-Grau S et al. Human Genomics (2024)
|Ext.		 Reported Trait: Ulcerative colitis OR: 1.11 [0.97, 1.28] AUROC: 0.57 — — —
PPM020320 PGS004253
(uc_ldpred2)
 PSS011334|
European Ancestry|
21,335 individuals
 PGP000545 |
Middha P et al. Nat Commun (2024)
 Reported Trait: Ulcerative colitis OR: 1.75 [1.59, 1.92] AUROC: 0.65 [0.62, 0.68] — age, sex, 10 PCs —
PPM020319 PGS004253
(uc_ldpred2)
 PSS011335|
European Ancestry|
5,735 individuals
 PGP000545 |
Middha P et al. Nat Commun (2024)
 Reported Trait: Ulcerative colitis OR: 1.84 [1.76, 1.93] AUROC: 0.66 [0.64, 0.68] — age at diagnosis/enrollment, sex, genotyping array, 10 PCs —
PPM021188 PGS004876
(INTERVENE_MegaPRS_Appendicitis)
 PSS011551|
European Ancestry|
38,191 individuals
 PGP000618 |
Jermy B et al. Nat Commun (2024)
 Reported Trait: Incident Appendicitis HR: 1.04 [0.96, 1.14] C-index: 0.58 [0.55, 0.61] — PCs 1-10 —
PPM021189 PGS004876
(INTERVENE_MegaPRS_Appendicitis)
 PSS011550|
European Ancestry|
69,715 individuals
 PGP000618 |
Jermy B et al. Nat Commun (2024)
 Reported Trait: Incident Appendicitis HR: 1.07 [1.02, 1.12] C-index: 0.54 [0.53, 0.56] — PCs 1-10 —
PPM021190 PGS004876
(INTERVENE_MegaPRS_Appendicitis)
 PSS011549|
European Ancestry|
29,427 individuals
 PGP000618 |
Jermy B et al. Nat Commun (2024)
 Reported Trait: Incident Appendicitis HR: 1.1 [1.01, 1.19] C-index: 0.56 [0.53, 0.58] — PCs 1-10 —
PPM021191 PGS004876
(INTERVENE_MegaPRS_Appendicitis)
 PSS011547|
European Ancestry|
44,188 individuals
 PGP000618 |
Jermy B et al. Nat Commun (2024)
 Reported Trait: Incident Appendicitis HR: 1.06 [0.97, 1.16] — — PCs 1-10 —
PPM021192 PGS004876
(INTERVENE_MegaPRS_Appendicitis)
 PSS011548|
European Ancestry|
7,018 individuals
 PGP000618 |
Jermy B et al. Nat Commun (2024)
 Reported Trait: Incident Appendicitis HR: 1.1 [1.01, 1.2] C-index: 0.57 [0.54, 0.59] — PCs 1-10 —
PPM021193 PGS004876
(INTERVENE_MegaPRS_Appendicitis)
 PSS011546|
European Ancestry|
412,090 individuals
 PGP000618 |
Jermy B et al. Nat Commun (2024)
 Reported Trait: Incident Appendicitis HR: 1.07 [1.06, 1.08] C-index: 0.53 [0.52, 0.53] — PCs 1-10 —
PPM021194 PGS004876
(INTERVENE_MegaPRS_Appendicitis)
 PSS011545|
European Ancestry|
199,868 individuals
 PGP000618 |
Jermy B et al. Nat Commun (2024)
 Reported Trait: Incident Appendicitis HR: 1.05 [1.03, 1.07] C-index: 0.54 [0.53, 0.54] — PCs 1-10 —
PPM022371 PGS005151
(Colon polyp (CT-SLEB; EAS+EUR))
 PSS011927|
East Asian Ancestry|
58,612 individuals
 PGP000704 |
Jung HU et al. Commun Biol (2025)
 Reported Trait: Colon polyp β: 1.15146 — — age, sex —
PPM036672 PGS018490
(TPMI_153.2_Lassosum2)
 PSS012388|
East Asian Ancestry|
17,023 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Colon cancer — AUROC: 0.62822 R²: 0.0152 sex, age, array, PCs 1-10 —
PPM036673 PGS018491
(TPMI_153.2_LDpred2)
 PSS012387|
East Asian Ancestry|
17,023 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Colon cancer — AUROC: 0.63975 R²: 0.01799 sex, age, array, PCs 1-10 —
PPM036674 PGS018492
(TPMI_153.2_MegaPRS)
 PSS012389|
East Asian Ancestry|
17,023 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Colon cancer — AUROC: 0.62461 R²: 0.01543 sex, age, array, PCs 1-10 —
PPM036675 PGS018493
(TPMI_153.2_PRS-CS)
 PSS012390|
East Asian Ancestry|
17,023 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Colon cancer — AUROC: 0.63049 R²: 0.01696 sex, age, array, PCs 1-10 —
PPM036676 PGS018494
(TPMI_153.2_SBayesR)
 PSS012391|
East Asian Ancestry|
17,023 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Colon cancer — AUROC: 0.6282 R²: 0.0159 sex, age, array, PCs 1-10 —
PPM036677 PGS018495
(TPMI_153.3_Lassosum2)
 PSS012393|
East Asian Ancestry|
16,918 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Malignant neoplasm of rectum rectosigmoid junction and anus — AUROC: 0.64845 R²: 0.01445 sex, age, array, PCs 1-10 —
PPM036678 PGS018496
(TPMI_153.3_LDpred2)
 PSS012392|
East Asian Ancestry|
16,918 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Malignant neoplasm of rectum rectosigmoid junction and anus — AUROC: 0.64998 R²: 0.01477 sex, age, array, PCs 1-10 —
PPM036679 PGS018497
(TPMI_153.3_MegaPRS)
 PSS012394|
East Asian Ancestry|
16,918 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Malignant neoplasm of rectum rectosigmoid junction and anus — AUROC: 0.6481 R²: 0.01452 sex, age, array, PCs 1-10 —
PPM036680 PGS018498
(TPMI_153.3_PRS-CS)
 PSS012395|
East Asian Ancestry|
16,918 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Malignant neoplasm of rectum rectosigmoid junction and anus — AUROC: 0.64899 R²: 0.01469 sex, age, array, PCs 1-10 —
PPM036681 PGS018499
(TPMI_153.3_SBayesR)
 PSS012396|
East Asian Ancestry|
16,918 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Malignant neoplasm of rectum rectosigmoid junction and anus — AUROC: 0.64811 R²: 0.01447 sex, age, array, PCs 1-10 —
PPM036792 PGS018610
(TPMI_208_Lassosum2)
 PSS012513|
East Asian Ancestry|
18,707 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Benign neoplasm of colon — AUROC: 0.594 R²: 0.02719 sex, age, array, PCs 1-10 —
PPM036793 PGS018611
(TPMI_208_LDpred2)
 PSS012512|
East Asian Ancestry|
18,707 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Benign neoplasm of colon — AUROC: 0.59584 R²: 0.02821 sex, age, array, PCs 1-10 —
PPM036794 PGS018612
(TPMI_208_MegaPRS)
 PSS012514|
East Asian Ancestry|
18,707 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Benign neoplasm of colon — AUROC: 0.59631 R²: 0.02871 sex, age, array, PCs 1-10 —
PPM036795 PGS018613
(TPMI_208_PRS-CS)
 PSS012515|
East Asian Ancestry|
18,707 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Benign neoplasm of colon — AUROC: 0.59443 R²: 0.02741 sex, age, array, PCs 1-10 —
PPM036796 PGS018614
(TPMI_208_SBayesR)
 PSS012516|
East Asian Ancestry|
18,707 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Benign neoplasm of colon — AUROC: 0.59494 R²: 0.02796 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
PSS008658 — — 5,477 individuals — European Italy (South Europe) UKB —
PSS012515 209.5, 211.3, 211.4, V12.72,D12, D3A, K63.5, Z86.010 —
[
  • 1,308 cases
  • , 17,399 controls
]
,
45.56 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012516 209.5, 211.3, 211.4, V12.72,D12, D3A, K63.5, Z86.010 —
[
  • 1,308 cases
  • , 17,399 controls
]
,
45.56 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS008385 — — 1,194 individuals — Greater Middle Eastern (Middle Eastern, North African or Persian) Iran (Middle East) UKB —
PSS009055 — — 4,121 individuals — European Poland (NE Europe) UKB —
PSS011334 — —
[
  • 459 cases
  • , 20,876 controls
]
 — European — BioVU —
PSS007777 — — 2,105 individuals — African American or Afro-Caribbean Carribean UKB —
PSS011335 — —
[
  • 844 cases
  • , 4,891 controls
]
 — European — UKB —
PSS008163 — — 6,307 individuals — South Asian India (South Asia) UKB —
PSS008432 — — 1,007 individuals — Greater Middle Eastern (Middle Eastern, North African or Persian) Iran (Middle East) UKB —
PSS009330 — — 16,188 individuals — European UK (+ Ireland) UKB —
PSS004339 — —
[
  • 27 cases
  • , 6,470 controls
]
 — African unspecified — UKB —
PSS004340 — —
[
  • 5 cases
  • , 1,699 controls
]
 — East Asian — UKB —
PSS004341 — —
[
  • 239 cases
  • , 24,666 controls
]
 — European non-white British ancestry UKB —
PSS004342 — —
[
  • 103 cases
  • , 7,728 controls
]
 — South Asian — UKB —
PSS004343 — —
[
  • 720 cases
  • , 66,705 controls
]
 — European white British ancestry UKB Testing cohort (heldout set)
PSS011545 — —
[
  • 13,442 cases
  • , 186,426 controls
]
 — European — EB —
PSS011546 — —
[
  • 31,397 cases
  • , 380,693 controls
]
 — European — FinnGen —
PSS008834 — — 3,905 individuals — African unspecified Nigeria (West Africa) UKB —
PSS011547 — —
[
  • 453 cases
  • , 43,735 controls
]
 — European — G&H —
PSS011549 — —
[
  • 586 cases
  • , 28,841 controls
]
 — European — GEL —
PSS011550 — —
[
  • 1,768 cases
  • , 67,947 controls
]
 — European — HUNT —
PSS011551 — —
[
  • 527 cases
  • , 37,664 controls
]
 — European — MGBB —
PSS011548 — —
[
  • 519 cases
  • , 6,499 controls
]
 — European — GS:SFHS —
PSS007708 — —
[
  • 2,985 cases
  • , 356,045 controls
]
 — European — UKB —
PSS004099 — —
[
  • 35 cases
  • , 6,462 controls
]
 — African unspecified — UKB —
PSS004100 — —
[
  • 9 cases
  • , 1,695 controls
]
 — East Asian — UKB —
PSS004101 — —
[
  • 190 cases
  • , 24,715 controls
]
 — European non-white British ancestry UKB —
PSS004102 — —
[
  • 37 cases
  • , 7,794 controls
]
 — South Asian — UKB —
PSS004103 — —
[
  • 612 cases
  • , 66,813 controls
]
 — European white British ancestry UKB Testing cohort (heldout set)
PSS007950 — — 1,800 individuals — East Asian China (East Asia) UKB —
PSS009104 — — 3,520 individuals — European Poland (NE Europe) UKB —
PSS008212 — — 5,337 individuals — South Asian India (South Asia) UKB —
PSS011762 — — 8,417 individuals — European — BBofA —
PSS004119 — —
[
  • 27 cases
  • , 6,470 controls
]
 — African unspecified — UKB —
PSS004120 — —
[
  • 5 cases
  • , 1,699 controls
]
 — East Asian — UKB —
PSS004121 — —
[
  • 260 cases
  • , 24,645 controls
]
 — European non-white British ancestry UKB —
PSS004122 — —
[
  • 113 cases
  • , 7,718 controls
]
 — South Asian — UKB —
PSS004123 — —
[
  • 788 cases
  • , 66,637 controls
]
 — European white British ancestry UKB Testing cohort (heldout set)
PSS008609 — — 6,617 individuals — European Italy (South Europe) UKB —
PSS012512 209.5, 211.3, 211.4, V12.72,D12, D3A, K63.5, Z86.010 —
[
  • 1,308 cases
  • , 17,399 controls
]
,
45.56 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012513 209.5, 211.3, 211.4, V12.72,D12, D3A, K63.5, Z86.010 —
[
  • 1,308 cases
  • , 17,399 controls
]
,
45.56 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012514 209.5, 211.3, 211.4, V12.72,D12, D3A, K63.5, Z86.010 —
[
  • 1,308 cases
  • , 17,399 controls
]
,
45.56 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012387 153, 159.0, 209.1, 230.3, V10.05,C18, C26.0, C7A.020, C7A.021, C7A.022, C7A.023, C7A.024, C7A.025, C7A.029, D01.0, Z85.03 —
[
  • 442 cases
  • , 16,581 controls
]
,
44.12 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012388 153, 159.0, 209.1, 230.3, V10.05,C18, C26.0, C7A.020, C7A.021, C7A.022, C7A.023, C7A.024, C7A.025, C7A.029, D01.0, Z85.03 —
[
  • 442 cases
  • , 16,581 controls
]
,
44.12 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012389 153, 159.0, 209.1, 230.3, V10.05,C18, C26.0, C7A.020, C7A.021, C7A.022, C7A.023, C7A.024, C7A.025, C7A.029, D01.0, Z85.03 —
[
  • 442 cases
  • , 16,581 controls
]
,
44.12 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012390 153, 159.0, 209.1, 230.3, V10.05,C18, C26.0, C7A.020, C7A.021, C7A.022, C7A.023, C7A.024, C7A.025, C7A.029, D01.0, Z85.03 —
[
  • 442 cases
  • , 16,581 controls
]
,
44.12 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012391 153, 159.0, 209.1, 230.3, V10.05,C18, C26.0, C7A.020, C7A.021, C7A.022, C7A.023, C7A.024, C7A.025, C7A.029, D01.0, Z85.03 —
[
  • 442 cases
  • , 16,581 controls
]
,
44.12 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012392 154, 209.17, 230.4, 230.5, 230.6, 796.7, V10.06,C19, C20, C21.0, C21.1, C7A.026, D01.1, D01.2, D01.3, R85.610, R85.611, R85.612, R85.613, R85.614, R85.619, Z85.04 —
[
  • 337 cases
  • , 16,581 controls
]
,
44.24 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012393 154, 209.17, 230.4, 230.5, 230.6, 796.7, V10.06,C19, C20, C21.0, C21.1, C7A.026, D01.1, D01.2, D01.3, R85.610, R85.611, R85.612, R85.613, R85.614, R85.619, Z85.04 —
[
  • 337 cases
  • , 16,581 controls
]
,
44.24 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS008881 — — 3,465 individuals — African unspecified Nigeria (West Africa) UKB —
PSS012394 154, 209.17, 230.4, 230.5, 230.6, 796.7, V10.06,C19, C20, C21.0, C21.1, C7A.026, D01.1, D01.2, D01.3, R85.610, R85.611, R85.612, R85.613, R85.614, R85.619, Z85.04 —
[
  • 337 cases
  • , 16,581 controls
]
,
44.24 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS007731 — — 2,469 individuals — African American or Afro-Caribbean Carribean UKB —
PSS000538 PheCode:153.2; ICD9CM:153.0, 153.1, 153.2, 153.3, 153.4, 153.5, 153.6, 153.7, 153.8, 153.9, 159.0, 209.10, 209.11, 209.12, 209.13, 209.14, 209.15, 209.16, 230.3, V10.05; ICD10CM:C18, C18.0, C18.1, C18.2, C18.3, C18.4, C18.5, C18.6, C18.7, C18.8, C18.9, C26.0, C7A.020, C7A.021, C7A.022, C7A.023, C7A.024, C7A.025, C7A.029, D01.0 —
[
  • 462 cases
  • , 4,569 controls
]
 — European — MGI —
PSS000539 PheCode:153.3; ICD9CM:154.0, 154.1, 154.2, 154.3, 209.17, 230.4, 230.5, 230.6, 796.70, 796.71, 796.72, 796.73, 796.74, 796.76, V10.06; ICD10CM:C19, C20, C21.0, C21.1, C7A.026, D01.1, D01.2, D01.3, R85.610, R85.611, R85.612, R85.613, R85.614, R85.619 —
[
  • 325 cases
  • , 3,232 controls
]
 — European — MGI —
PSS012395 154, 209.17, 230.4, 230.5, 230.6, 796.7, V10.06,C19, C20, C21.0, C21.1, C7A.026, D01.1, D01.2, D01.3, R85.610, R85.611, R85.612, R85.613, R85.614, R85.619, Z85.04 —
[
  • 337 cases
  • , 16,581 controls
]
,
44.24 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012396 154, 209.17, 230.4, 230.5, 230.6, 796.7, V10.06,C19, C20, C21.0, C21.1, C7A.026, D01.1, D01.2, D01.3, R85.610, R85.611, R85.612, R85.613, R85.614, R85.619, Z85.04 —
[
  • 337 cases
  • , 16,581 controls
]
,
44.24 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS007994 — — 1,630 individuals — East Asian China (East Asia) UKB —
PSS011927 — —
[
  • 3,336 cases
  • , 55,276 controls
]
 — East Asian
(Korean)		 — HEXA —
PSS009281 — — 19,812 individuals — European UK (+ Ireland) UKB —