Trait: anus disorder

Trait Information
Identifier MONDO_0002519
Description A non-neoplastic or neoplastic disorder that affects the anal canal or anal margin. Representative examples of non-neoplastic disorders include hemorrhoids and anal ulcer. Representative examples of neoplastic disorders include carcinoma, lymphoma, and melanoma. [NCIT: C26695]
Trait categories
Digestive system disorder
Other disease
Synonyms 7 synonyms
  • anal disorder
  • anus disease
  • anus disease or disorder
  • disease of anus
  • disease or disorder of anus
  • disorder of anal region
  • disorder of anus
Child trait(s) anal polyp

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 "anus 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)
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

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 —

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 —
PSS007997 — — 1,770 individuals — East Asian China (East Asia) UKB —