Trait: Rectal abscess

Trait Information
Identifier HP_0005224
Description A collection of pus in the area of the rectum.
Trait category
Other trait
Synonym Perirectal abscess

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
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)
PGS019350
(TPMI_565_Lassosum2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Anal and rectal conditions Rectal abscess 212,452
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019350/ScoringFiles/PGS019350.txt.gz
PGS019351
(TPMI_565_LDpred2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Anal and rectal conditions Rectal abscess 939,887
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019351/ScoringFiles/PGS019351.txt.gz
PGS019352
(TPMI_565_MegaPRS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Anal and rectal conditions Rectal abscess 20,527
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019352/ScoringFiles/PGS019352.txt.gz
PGS019353
(TPMI_565_PRS-CS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Anal and rectal conditions Rectal abscess 983,824
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019353/ScoringFiles/PGS019353.txt.gz
PGS019354
(TPMI_565_SBayesR)
 PGP000835 |
Chen HH et al. Nature (2025)
 Anal and rectal conditions Rectal abscess 986,348
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019354/ScoringFiles/PGS019354.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
PPM037532 PGS019350
(TPMI_565_Lassosum2)
 PSS013253|
East Asian Ancestry|
17,980 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Anal and rectal conditions — AUROC: 0.72627 R²: 0.04117 sex, age, array, PCs 1-10 —
PPM037533 PGS019351
(TPMI_565_LDpred2)
 PSS013252|
East Asian Ancestry|
17,980 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Anal and rectal conditions — AUROC: 0.72655 R²: 0.04118 sex, age, array, PCs 1-10 —
PPM037534 PGS019352
(TPMI_565_MegaPRS)
 PSS013254|
East Asian Ancestry|
17,980 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Anal and rectal conditions — AUROC: 0.72587 R²: 0.04121 sex, age, array, PCs 1-10 —
PPM037535 PGS019353
(TPMI_565_PRS-CS)
 PSS013255|
East Asian Ancestry|
17,980 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Anal and rectal conditions — AUROC: 0.72596 R²: 0.04114 sex, age, array, PCs 1-10 —
PPM037536 PGS019354
(TPMI_565_SBayesR)
 PSS013256|
East Asian Ancestry|
17,980 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Anal and rectal conditions — AUROC: 0.72623 R²: 0.04127 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
PSS013252 564.6, 565, 566, 569.0, 569.1, 569.2, 569.4,K59.4, K60, K61, K62.0, K62.1, K62.2, K62.3, K62.4, K62.7, K62.8, K62.9 —
[
  • 303 cases
  • , 17,677 controls
]
,
45.41 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS013253 564.6, 565, 566, 569.0, 569.1, 569.2, 569.4,K59.4, K60, K61, K62.0, K62.1, K62.2, K62.3, K62.4, K62.7, K62.8, K62.9 —
[
  • 303 cases
  • , 17,677 controls
]
,
45.41 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS013254 564.6, 565, 566, 569.0, 569.1, 569.2, 569.4,K59.4, K60, K61, K62.0, K62.1, K62.2, K62.3, K62.4, K62.7, K62.8, K62.9 —
[
  • 303 cases
  • , 17,677 controls
]
,
45.41 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS013255 564.6, 565, 566, 569.0, 569.1, 569.2, 569.4,K59.4, K60, K61, K62.0, K62.1, K62.2, K62.3, K62.4, K62.7, K62.8, K62.9 —
[
  • 303 cases
  • , 17,677 controls
]
,
45.41 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS013256 564.6, 565, 566, 569.0, 569.1, 569.2, 569.4,K59.4, K60, K61, K62.0, K62.1, K62.2, K62.3, K62.4, K62.7, K62.8, K62.9 —
[
  • 303 cases
  • , 17,677 controls
]
,
45.41 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —