Polygenic Score (PGS) ID: PGS001400

Predicted Trait
Reported Trait Haemoglobin concentration
Mapped Trait(s) hemoglobin measurement (EFO_0004509)
Additional Trait Information https://biobankengine.stanford.edu/RIVAS_HG19/snpnet/INI30020
Released in PGS Catalog: Nov. 25, 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_INI30020
Development Method
Name snpnet
Parameters NR
Variants
Original Genome Build GRCh37
Number of Variants 15,602
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%
262,324 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
— 262,324 individuals European UKB — — — white British ancestry Training + validation cohort (train_val)

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
PPM007035 PSS006901|
African Ancestry|
6,139 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Haemoglobin concentration — — R²: 0.38602 [0.36748, 0.40456]
Incremental R2 (full-covars): 0.00491
PGS R2 (no covariates): 0.01221 [0.00691, 0.01752]		 age, sex, UKB array type, Genotype PCs —
PPM007036 PSS006902|
East Asian Ancestry|
1,655 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Haemoglobin concentration — — R²: 0.40783 [0.37199, 0.44367]
Incremental R2 (full-covars): 0.02084
PGS R2 (no covariates): 0.01558 [0.00394, 0.02723]		 age, sex, UKB array type, Genotype PCs —
PPM007037 PSS006903|
European Ancestry|
24,175 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Haemoglobin concentration — — R²: 0.43532 [0.42607, 0.44457]
Incremental R2 (full-covars): 0.06361
PGS R2 (no covariates): 0.06382 [0.05795, 0.06969]		 age, sex, UKB array type, Genotype PCs —
PPM007038 PSS006904|
South Asian Ancestry|
7,520 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Haemoglobin concentration — — R²: 0.4337 [0.41719, 0.45022]
Incremental R2 (full-covars): 0.02482
PGS R2 (no covariates): 0.01823 [0.01236, 0.0241]		 age, sex, UKB array type, Genotype PCs —
PPM007039 PSS006905|
European Ancestry|
65,638 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Haemoglobin concentration — — R²: 0.42918 [0.42353, 0.43482]
Incremental R2 (full-covars): 0.06776
PGS R2 (no covariates): 0.06681 [0.06316, 0.07045]		 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
PSS006901 — — 6,139 individuals — African unspecified — UKB —
PSS006902 — — 1,655 individuals — East Asian — UKB —
PSS006903 — — 24,175 individuals — European non-white British ancestry UKB —
PSS006904 — — 7,520 individuals — South Asian — UKB —
PSS006905 — — 65,638 individuals — European white British ancestry UKB Testing cohort (heldout set)