Polygenic Score (PGS) ID: PGS003928

Predicted Trait
Reported Trait Mean corpuscular volume
Mapped Trait(s) mean corpuscular volume (EFO_0004526)
Additional Trait Information http://ipgs.mit.edu/tanigawakellis2023/INI30040
Released in PGS Catalog: Nov. 1, 2023
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Score Details

Score Construction
PGS Name INI30040
Development Method
Name snpnet
Parameters inclusive PGS
Variants
Original Genome Build GRCh37
Number of Variants 21,818
Effect Weight Type beta
PGS Source
PGS Catalog Publication (PGP) ID PGP000502
Citation (link to publication) Tanigawa Y et al. AJHG (2023)
Ancestry Distribution
Score Development/Training
Multi-ancestry (including European): 100%
  • European
  • South Asian
  • African
  • Additional Diverse Ancestries
316,084 individuals (100%)
PGS Evaluation
European: 40%
African: 20%
Multi-ancestry (excluding European): 20%
  • East Asian
  • Additional Diverse Ancestries
South Asian: 20%
5 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
316,084 individuals European, South Asian, African unspecified, Other admixed ancestry UKB European, South Asian, African unspecified, Other admixed 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
PPM018959 PSS011136|
European Ancestry|
65,932 individuals
PGP000502 |
Tanigawa Y et al. AJHG (2023)
Reported Trait: Mean corpuscular volume : 0.21483 [0.20935, 0.22031]
PGS R2 (no covariates): 0.1996 [0.19422, 0.20499]
Incremental R2 (full-covars): 0.19669
age, sex, age^2, age*sex, Townsend deprivation index, genotype PCs (PC1-PC18)
PPM018960 PSS011109|
European Ancestry|
2,813 individuals
PGP000502 |
Tanigawa Y et al. AJHG (2023)
Reported Trait: Mean corpuscular volume : 0.21868 [0.19209, 0.24527]
PGS R2 (no covariates): 0.19629 [0.17038, 0.22221]
Incremental R2 (full-covars): 0.19227
age, sex, age^2, age*sex, Townsend deprivation index, genotype PCs (PC1-PC18)
PPM018961 PSS011113|
South Asian Ancestry|
1,433 individuals
PGP000502 |
Tanigawa Y et al. AJHG (2023)
Reported Trait: Mean corpuscular volume : 0.13118 [0.09927, 0.1631]
PGS R2 (no covariates): 0.10078 [0.07183, 0.12973]
Incremental R2 (full-covars): 0.09425
age, sex, age^2, age*sex, Townsend deprivation index, genotype PCs (PC1-PC18)
PPM018962 PSS011155|
African Ancestry|
1,157 individuals
PGP000502 |
Tanigawa Y et al. AJHG (2023)
Reported Trait: Mean corpuscular volume : 0.07522 [0.04675, 0.10368]
PGS R2 (no covariates): 0.05806 [0.03259, 0.08353]
Incremental R2 (full-covars): 0.05248
age, sex, age^2, age*sex, Townsend deprivation index, genotype PCs (PC1-PC18)
PPM018963 PSS011166|
Multi-ancestry (excluding European)|
7,746 individuals
PGP000502 |
Tanigawa Y et al. AJHG (2023)
Reported Trait: Mean corpuscular volume : 0.18827 [0.17284, 0.20369]
PGS R2 (no covariates): 0.14096 [0.12683, 0.15508]
Incremental R2 (full-covars): 0.11206
age, sex, age^2, age*sex, Townsend deprivation index, genotype PCs (PC1-PC18)

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
PSS011109 2,813 individuals European
(non-white British ancestry)
UKB
PSS011113 1,433 individuals South Asian UKB
PSS011155 1,157 individuals African unspecified UKB
PSS011166 7,746 individuals East Asian, Other admixed ancestry East Asian, Other admixed ancestry UKB
PSS011136 65,932 individuals European
(white British ancestry)
UKB