| Trait Information | |
| Identifier | MONDO_0003409 |
| Description | Pathological processes in the colon region of the large intestine (intestine, large). [MESH: D003108] | Trait category |
Other trait
|
| Synonyms |
5 synonyms
|
| Child trait(s) | 7 child traits |
| Polygenic Score ID & Name | PGS Publication ID (PGP) | Reported Trait | Mapped Trait(s) (Ontology) | Number of Variants |
Ancestry distribution GWAS Dev Eval |
Scoring File (FTP Link) |
|---|---|---|---|---|---|---|
| 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 |
|
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 | — |
|
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 | — | [ ,
45.56 % Male samples |
— | East Asian (Han Chinese) |
— | TPMI | — |
| PSS012516 | 209.5, 211.3, 211.4, V12.72,D12, D3A, K63.5, Z86.010 | — | [ ,
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 | — | — | [
|
— | European | — | BioVU | — |
| PSS007777 | — | — | 2,105 individuals | — | African American or Afro-Caribbean | Carribean | UKB | — |
| PSS011335 | — | — | [
|
— | 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 | — | — | [
|
— | African unspecified | — | UKB | — |
| PSS004340 | — | — | [
|
— | East Asian | — | UKB | — |
| PSS004341 | — | — | [
|
— | European | non-white British ancestry | UKB | — |
| PSS004342 | — | — | [
|
— | South Asian | — | UKB | — |
| PSS004343 | — | — | [
|
— | European | white British ancestry | UKB | Testing cohort (heldout set) |
| PSS011545 | — | — | [
|
— | European | — | EB | — |
| PSS011546 | — | — | [
|
— | European | — | FinnGen | — |
| PSS008834 | — | — | 3,905 individuals | — | African unspecified | Nigeria (West Africa) | UKB | — |
| PSS011547 | — | — | [
|
— | European | — | G&H | — |
| PSS011549 | — | — | [
|
— | European | — | GEL | — |
| PSS011550 | — | — | [
|
— | European | — | HUNT | — |
| PSS011551 | — | — | [
|
— | European | — | MGBB | — |
| PSS011548 | — | — | [
|
— | European | — | GS:SFHS | — |
| PSS007708 | — | — | [
|
— | European | — | UKB | — |
| PSS004099 | — | — | [
|
— | African unspecified | — | UKB | — |
| PSS004100 | — | — | [
|
— | East Asian | — | UKB | — |
| PSS004101 | — | — | [
|
— | European | non-white British ancestry | UKB | — |
| PSS004102 | — | — | [
|
— | South Asian | — | UKB | — |
| PSS004103 | — | — | [
|
— | 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 | — | — | [
|
— | African unspecified | — | UKB | — |
| PSS004120 | — | — | [
|
— | East Asian | — | UKB | — |
| PSS004121 | — | — | [
|
— | European | non-white British ancestry | UKB | — |
| PSS004122 | — | — | [
|
— | South Asian | — | UKB | — |
| PSS004123 | — | — | [
|
— | 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 | — | [ ,
45.56 % Male samples |
— | East Asian (Han Chinese) |
— | TPMI | — |
| PSS012513 | 209.5, 211.3, 211.4, V12.72,D12, D3A, K63.5, Z86.010 | — | [ ,
45.56 % Male samples |
— | East Asian (Han Chinese) |
— | TPMI | — |
| PSS012514 | 209.5, 211.3, 211.4, V12.72,D12, D3A, K63.5, Z86.010 | — | [ ,
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 | — | [ ,
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 | — | [ ,
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 | — | [ ,
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 | — | [ ,
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 | — | [ ,
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 | — | [ ,
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 | — | [ ,
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 | — | [ ,
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 | — | [
|
— | 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 | — | [
|
— | 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 | — | [ ,
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 | — | [ ,
44.24 % Male samples |
— | East Asian (Han Chinese) |
— | TPMI | — |
| PSS007994 | — | — | 1,630 individuals | — | East Asian | China (East Asia) | UKB | — |
| PSS011927 | — | — | [
|
— | East Asian (Korean) |
— | HEXA | — |
| PSS009281 | — | — | 19,812 individuals | — | European | UK (+ Ireland) | UKB | — |