Trait: congenital deformities of limbs

Trait Information
Identifier MONDO_0017427
Trait category
Other disease
Mapped terms 3 mapped terms
  • GARD:21181
  • MedDRA:10024500
  • Orphanet:294944

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:
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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)
PGS004481
(disease.M20.score)
 PGP000561 |
Jung H et al. Commun Biol (2024)
 M20 (Acquired deformities of fingers and toes) congenital deformities of limbs 1,059,939
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004481/ScoringFiles/PGS004481.txt.gz
PGS004551
(meta.M20.score)
 PGP000561 |
Jung H et al. Commun Biol (2024)
 M20 (Acquired deformities of fingers and toes) congenital deformities of limbs 1,059,939
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004551/ScoringFiles/PGS004551.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
PPM020596 PGS004481
(disease.M20.score)
 PSS011364|
European Ancestry|
56,192 individuals
 PGP000561 |
Jung H et al. Commun Biol (2024)
 Reported Trait: M20 (Acquired deformities of fingers and toes) OR: 1.21191 — — — —
PPM020666 PGS004551
(meta.M20.score)
 PSS011364|
European Ancestry|
56,192 individuals
 PGP000561 |
Jung H et al. Commun Biol (2024)
 Reported Trait: M20 (Acquired deformities of fingers and toes) OR: 1.22837 — — — —

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
PSS011364 — — 56,192 individuals — European — UKB —