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
Variants
Original Genome Build GRCh37
Number of Variants 678
Development Method
Name Genomewide-significant SNPs
Parameters Conditionally independent GWAS associations
PGS Source
PGS Catalog Publication (PGP) ID PGP000078
Citation (link to publication) Vuckovic D et al. Cell (2020)

Contributing Samples

Source of Variant Associations (GWAS)
Study Identifiers Sample Numbers Sample Ancestry
EuropePMC: 10.1101/2020.02.02.20020065 408,112 individuals European

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 ID)
PGS Sample Set ID
(PSS ID)
Performance Source Trait PGS Effect Sizes
(per SD change)
PGS Classification Metrics Other Metrics Covariates Included in the Model PGS Performance: Other Relevant Information
PPM000558 PSS000290 PGP000078
Vuckovic D et al. Cell (2020)
Reported Trait: Red blood cell count : 0.06798 sex, age, 10 genetic PCs
PPM000541 PSS000291 PGP000078
Vuckovic D et al. Cell (2020)
Reported Trait: Red blood cell count : 0.11765 sex, age, 10 genetic PCs
PPM001771 PSS000911 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 ID)
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