Polygenic Score (PGS) ID: PGS001243

Predicted Trait
Reported Trait Ankle spacing width (R)
Mapped Trait(s) anthropometric measurement (EFO_0004302)
Additional Trait Information https://biobankengine.stanford.edu/RIVAS_HG19/snpnet/INI4119
Released in PGS Catalog: Oct. 21, 2021
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Terms and Licenses
PGS obtained from the Catalog should be cited appropriately, and used in accordance with any licensing restrictions set by the authors. See EBI Terms of Use (https://www.ebi.ac.uk/about/terms-of-use/) for additional details.

Score Details

Score Construction
PGS Name GBE_INI4119
Development Method
Name snpnet
Parameters NR
Variants
Original Genome Build GRCh37
Number of Variants 15,134
Effect Weight Type NR
PGS Source
PGS Catalog Publication (PGP) ID PGP000244
Citation (link to publication) Tanigawa Y et al. PLoS Genet (2022)
Ancestry Distribution
Score Development/Training
European: 100%
103,563 individuals (100%)
PGS Evaluation
European: 50%
African: 16.7%
East Asian: 16.7%
South Asian: 16.7%
6 Sample Sets

Development Samples

Score Development/Training
Study Identifiers Sample Numbers Sample Ancestry Cohort(s) Phenotype Definitions & Methods Age of Study Participants Participant Follow-up Time Additional Ancestry Description Additional Sample/Cohort Information
— 103,563 individuals European UKB — — — white British ancestry —

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)
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
PPM008724 PSS007301|
African Ancestry|
3,592 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Reported Trait: Ankle spacing width (R) — — R²: 0.14932 [0.13334, 0.1653]
Incremental R2 (full-covars): 0.00481
PGS R2 (no covariates): 0.01872 [0.01219, 0.02525]
age, sex, UKB array type, Genotype PCs —
PPM008725 PSS007302|
East Asian Ancestry|
782 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Reported Trait: Ankle spacing width (R) — — R²: 0.36262 [0.32624, 0.39899]
Incremental R2 (full-covars): 0.04629
PGS R2 (no covariates): 0.06865 [0.04552, 0.09177]
age, sex, UKB array type, Genotype PCs —
PPM008726 PSS007303|
European Ancestry|
10,633 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Reported Trait: Ankle spacing width (R) — — R²: 0.36171 [0.35218, 0.37125]
Incremental R2 (full-covars): 0.07878
PGS R2 (no covariates): 0.0812 [0.0747, 0.0877]
age, sex, UKB array type, Genotype PCs —
PPM008727 PSS007304|
South Asian Ancestry|
5,041 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Reported Trait: Ankle spacing width (R) — — R²: 0.30011 [0.28313, 0.31708]
Incremental R2 (full-covars): 0.06364
PGS R2 (no covariates): 0.06153 [0.05122, 0.07184]
age, sex, UKB array type, Genotype PCs —
PPM008728 PSS007305|
European Ancestry|
25,728 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Reported Trait: Ankle spacing width (R) — — R²: 0.31774 [0.31194, 0.32355]
Incremental R2 (full-covars): 0.08793
PGS R2 (no covariates): 0.08936 [0.08525, 0.09347]
age, sex, UKB array type, Genotype PCs —
PPM038811 PSS013916|
European Ancestry|
425,240 individuals
PGP000865 |
Bhatt IS et al. J Assoc Res Otolaryngol (2024)
|Ext.
Reported Trait: Age-related hearing difficulty β: 0.01653 — — — —

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
PSS007301 — — 3,592 individuals — African unspecified — UKB —
PSS007302 — — 782 individuals — East Asian — UKB —
PSS007303 — — 10,633 individuals — European non-white British ancestry UKB —
PSS007304 — — 5,041 individuals — South Asian — UKB —
PSS007305 — — 25,728 individuals — European white British ancestry UKB Testing cohort (heldout set)
PSS013916 — —
[
  • 111,243 cases
  • , 313,997 controls
]
,
46.21 % Male samples
— European
(British, Irish)
— UKB —