Polygenic Score (PGS) ID: PGS001240

Predicted Trait
Reported Trait Red blood cell count
Mapped Trait(s) erythrocyte count (EFO_0004305)
Additional Trait Information https://biobankengine.stanford.edu/RIVAS_HG19/snpnet/INI30010
Released in PGS Catalog: Oct. 21, 2021
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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_INI30010
Development Method
Name snpnet
Parameters NR
Variants
Original Genome Build GRCh37
Number of Variants 20,480
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%
262,325 individuals (100%)
PGS Evaluation
European: 40%
African: 20%
East Asian: 20%
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
— 262,325 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
PPM008709 PSS006896|
African Ancestry|
6,139 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Red blood cell count — — R²: 0.26906 [0.25063, 0.28749]
Incremental R2 (full-covars): 0.01652
PGS R2 (no covariates): 0.01819 [0.01175, 0.02463]		 age, sex, UKB array type, Genotype PCs —
PPM008710 PSS006897|
East Asian Ancestry|
1,655 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Red blood cell count — — R²: 0.32546 [0.289, 0.36193]
Incremental R2 (full-covars): 0.04519
PGS R2 (no covariates): 0.05665 [0.03538, 0.07793]		 age, sex, UKB array type, Genotype PCs —
PPM008711 PSS006898|
European Ancestry|
24,175 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Red blood cell count — — R²: 0.37954 [0.37005, 0.38904]
Incremental R2 (full-covars): 0.10462
PGS R2 (no covariates): 0.11155 [0.10418, 0.11892]		 age, sex, UKB array type, Genotype PCs —
PPM008712 PSS006899|
South Asian Ancestry|
7,520 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Red blood cell count — — R²: 0.33598 [0.31894, 0.35302]
Incremental R2 (full-covars): 0.05745
PGS R2 (no covariates): 0.05295 [0.0433, 0.0626]		 age, sex, UKB array type, Genotype PCs —
PPM008713 PSS006900|
European Ancestry|
65,638 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Red blood cell count — — R²: 0.37344 [0.36766, 0.37922]
Incremental R2 (full-covars): 0.11681
PGS R2 (no covariates): 0.11784 [0.11327, 0.12241]		 age, sex, UKB array type, Genotype 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
PSS006896 — — 6,139 individuals — African unspecified — UKB —
PSS006897 — — 1,655 individuals — East Asian — UKB —
PSS006898 — — 24,175 individuals — European non-white British ancestry UKB —
PSS006899 — — 7,520 individuals — South Asian — UKB —
PSS006900 — — 65,638 individuals — European white British ancestry UKB Testing cohort (heldout set)