Polygenic Score (PGS) ID: PGS000187

Predicted Trait
Reported Trait Red blood cell count
Mapped Trait(s) erythrocyte count (EFO_0004305)
Additional Trait Information RBC#
Released in PGS Catalog: April 29, 2020
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Score Details

Score Construction
PGS Name rbc
Development Method
Name Genome-wide significant variants
Parameters Conditionally independent GWAS associations
Variants
Original Genome Build GRCh37
Number of Variants 678
Effect Weight Type beta
PGS Source
PGS Catalog Publication (PGP) ID PGP000078
Citation (link to publication) Vuckovic D et al. Cell (2020)
Ancestry Distribution
Source of Variant
Associations (GWAS)
European: 100%
408,112 individuals (100%)
PGS Evaluation
European: 66.7%
Greater Middle Eastern: 33.3%
3 Sample Sets

Development Samples

Source of Variant Associations (GWAS)
Study Identifiers Sample Numbers Sample Ancestry Cohort(s)
408,112 individuals European UKB

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
PPM000558 PSS000290|
European Ancestry|
2,314 individuals
 PGP000078 |
Vuckovic D et al. Cell (2020)
 Reported Trait: Red blood cell count — — R²: 0.06798 sex, age, 10 genetic PCs —
PPM000541 PSS000291|
European Ancestry|
39,260 individuals
 PGP000078 |
Vuckovic D et al. Cell (2020)
 Reported Trait: Red blood cell count — — R²: 0.11765 sex, age, 10 genetic PCs —
PPM001771 PSS000911|
Greater Middle Eastern Ancestry|
13,989 individuals
 PGP000147 |
Thareja G et al. Nat Commun (2021)
|Ext.		 Reported Trait: Red blood cell count — — Pearson correlation coefficent (r): 0.22 — —

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
PSS000911 — — 13,989 individuals — Greater Middle Eastern (Middle Eastern, North African or Persian)
(Qatari)		 — QBB —
PSS000290 — — 2,314 individuals — European
(French Canadian)		 — CARTaGENE —
PSS000291 — — 39,260 individuals — European — INTERVAL —