Polygenic Score (PGS) ID: PGS001225

Predicted Trait
Reported Trait Percentage of hematocrit
Mapped Trait(s) hematocrit (EFO_0004348)
Additional Trait Information https://biobankengine.stanford.edu/RIVAS_HG19/snpnet/INI30030
Released in PGS Catalog: Oct. 21, 2021
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Score Details

Score Construction
PGS Name GBE_INI30030
Development Method
Name snpnet
Parameters NR
Variants
Original Genome Build GRCh37
Number of Variants 15,721
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
PPM008639 PSS006921|
African Ancestry|
6,139 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Reported Trait: Haematocrit % Incremental R2 (full-covars): 0.01035
: 0.39181 [0.37331, 0.41032]
PGS R2 (no covariates): 0.01326 [0.00774, 0.01879]
age, sex, UKB array type, Genotype PCs
PPM008640 PSS006922|
East Asian Ancestry|
1,655 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Reported Trait: Haematocrit % : 0.4128 [0.37705, 0.44856]
Incremental R2 (full-covars): 0.02196
PGS R2 (no covariates): 0.02063 [0.0073, 0.03396]
age, sex, UKB array type, Genotype PCs
PPM008641 PSS006923|
European Ancestry|
24,175 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Reported Trait: Haematocrit % : 0.396 [0.38656, 0.40544]
Incremental R2 (full-covars): 0.05878
PGS R2 (no covariates): 0.06263 [0.0568, 0.06846]
age, sex, UKB array type, Genotype PCs
PPM008642 PSS006924|
South Asian Ancestry|
7,520 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Reported Trait: Haematocrit % : 0.4249 [0.4083, 0.4415]
Incremental R2 (full-covars): 0.02482
PGS R2 (no covariates): 0.0222 [0.01575, 0.02865]
age, sex, UKB array type, Genotype PCs
PPM008643 PSS006925|
European Ancestry|
65,638 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Reported Trait: Haematocrit % : 0.39123 [0.38548, 0.39698]
Incremental R2 (full-covars): 0.06504
PGS R2 (no covariates): 0.06544 [0.06183, 0.06904]
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
PSS006921 6,139 individuals African unspecified UKB
PSS006922 1,655 individuals East Asian UKB
PSS006923 24,175 individuals European non-white British ancestry UKB
PSS006924 7,520 individuals South Asian UKB
PSS006925 65,638 individuals European white British ancestry UKB Testing cohort (heldout set)