Trait: polyp of large intestine

Trait Information
Identifier MONDO_0021392
Description A polyp that involves the large intestine. [MONDO: patterns/location]
Trait categories
Digestive system disorder
Other disease
Synonyms 6 synonyms
  • colorectal polyp
  • large bowel polyp
  • large intestine polyp
  • polyp of large bowel
  • polyp of the large bowel
  • polyp of the large intestine
Child trait(s) 3 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 "polyp of large intestine" 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)
PGS001859
(portability-PLR_565.1)
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Anal and rectal polyp polyp of rectum,
anal polyp		 789
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001859/ScoringFiles/PGS001859.txt.gz
PGS002070
(portability-ldpred2_565.1)
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Anal and rectal polyp polyp of rectum,
anal polyp		 584,133
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002070/ScoringFiles/PGS002070.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

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
PPM009761 PGS001859
(portability-PLR_565.1)
 PSS009334|
European Ancestry|
19,196 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Anal and rectal polyp — — Partial Correlation (partial-r): 0.0212 [0.007, 0.0353] sex, age, birth date, deprivation index, 16 PCs —
PPM009762 PGS001859
(portability-PLR_565.1)
 PSS009108|
European Ancestry|
4,008 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Anal and rectal polyp — — Partial Correlation (partial-r): 0.0361 [0.005, 0.067] sex, age, birth date, deprivation index, 16 PCs —
PPM009763 PGS001859
(portability-PLR_565.1)
 PSS008662|
European Ancestry|
6,382 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Anal and rectal polyp — — Partial Correlation (partial-r): 0.0161 [-0.0085, 0.0406] sex, age, birth date, deprivation index, 16 PCs —
PPM009764 PGS001859
(portability-PLR_565.1)
 PSS008436|
Greater Middle Eastern Ancestry|
1,135 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Anal and rectal polyp — — Partial Correlation (partial-r): 0.0633 [0.0047, 0.1216] sex, age, birth date, deprivation index, 16 PCs —
PPM009765 PGS001859
(portability-PLR_565.1)
 PSS008216|
South Asian Ancestry|
5,990 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Anal and rectal polyp — — Partial Correlation (partial-r): -0.0037 [-0.029, 0.0217] sex, age, birth date, deprivation index, 16 PCs —
PPM009766 PGS001859
(portability-PLR_565.1)
 PSS007997|
East Asian Ancestry|
1,770 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Anal and rectal polyp — — Partial Correlation (partial-r): 0.0417 [-0.0051, 0.0884] sex, age, birth date, deprivation index, 16 PCs —
PPM009767 PGS001859
(portability-PLR_565.1)
 PSS007781|
African Ancestry|
2,363 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Anal and rectal polyp — — Partial Correlation (partial-r): 0.0309 [-0.0096, 0.0713] sex, age, birth date, deprivation index, 16 PCs —
PPM009768 PGS001859
(portability-PLR_565.1)
 PSS008885|
African Ancestry|
3,762 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Anal and rectal polyp — — Partial Correlation (partial-r): 0.0059 [-0.0261, 0.0379] sex, age, birth date, deprivation index, 16 PCs —
PPM011421 PGS002070
(portability-ldpred2_565.1)
 PSS009334|
European Ancestry|
19,196 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Anal and rectal polyp — — Partial Correlation (partial-r): 0.0342 [0.02, 0.0483] sex, age, birth date, deprivation index, 16 PCs —
PPM011422 PGS002070
(portability-ldpred2_565.1)
 PSS009108|
European Ancestry|
4,008 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Anal and rectal polyp — — Partial Correlation (partial-r): 0.0435 [0.0125, 0.0745] sex, age, birth date, deprivation index, 16 PCs —
PPM011423 PGS002070
(portability-ldpred2_565.1)
 PSS008662|
European Ancestry|
6,382 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Anal and rectal polyp — — Partial Correlation (partial-r): 0.0224 [-0.0022, 0.047] sex, age, birth date, deprivation index, 16 PCs —
PPM011424 PGS002070
(portability-ldpred2_565.1)
 PSS008436|
Greater Middle Eastern Ancestry|
1,135 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Anal and rectal polyp — — Partial Correlation (partial-r): 0.0438 [-0.015, 0.1022] sex, age, birth date, deprivation index, 16 PCs —
PPM011425 PGS002070
(portability-ldpred2_565.1)
 PSS008216|
South Asian Ancestry|
5,990 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Anal and rectal polyp — — Partial Correlation (partial-r): 0.0084 [-0.017, 0.0338] sex, age, birth date, deprivation index, 16 PCs —
PPM011426 PGS002070
(portability-ldpred2_565.1)
 PSS007997|
East Asian Ancestry|
1,770 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Anal and rectal polyp — — Partial Correlation (partial-r): 0.0501 [0.0032, 0.0967] sex, age, birth date, deprivation index, 16 PCs —
PPM011427 PGS002070
(portability-ldpred2_565.1)
 PSS007781|
African Ancestry|
2,363 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Anal and rectal polyp — — Partial Correlation (partial-r): 0.0457 [0.0052, 0.086] sex, age, birth date, deprivation index, 16 PCs —
PPM011428 PGS002070
(portability-ldpred2_565.1)
 PSS008885|
African Ancestry|
3,762 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Anal and rectal polyp — — Partial Correlation (partial-r): -0.0102 [-0.0422, 0.0219] sex, age, birth date, deprivation index, 16 PCs —
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 —

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
PSS007781 — — 2,363 individuals — African American or Afro-Caribbean Carribean UKB —
PSS009108 — — 4,008 individuals — European Poland (NE Europe) UKB —
PSS008436 — — 1,135 individuals — Greater Middle Eastern (Middle Eastern, North African or Persian) Iran (Middle East) UKB —
PSS009334 — — 19,196 individuals — European UK (+ Ireland) UKB —
PSS008662 — — 6,382 individuals — European Italy (South Europe) UKB —
PSS008216 — — 5,990 individuals — South Asian India (South Asia) UKB —
PSS008885 — — 3,762 individuals — African unspecified Nigeria (West Africa) UKB —
PSS011927 — —
[
  • 3,336 cases
  • , 55,276 controls
]
 — East Asian
(Korean)		 — HEXA —
PSS007997 — — 1,770 individuals — East Asian China (East Asia) UKB —