Polygenic Score (PGS) ID: PGS000100

Predicted Trait
Reported Trait Mean corpuscular hemoglobin concentration
Mapped Trait(s) mean corpuscular hemoglobin concentration (EFO_0004528)
Additional Trait Information MCHC
Released in PGS Catalog: Feb. 19, 2020
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Terms and Licenses
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 mchc
Development Method
Name Regularized Regression (Elastic Net)
Parameters Bi-allelic variants (MAF > 0.01, INFO > 0.4, missingness rate < 0.1) with LD thinning (r2 t... hreshold = 0.5)Show more
Variants
Original Genome Build GRCh37
Number of Variants 11,832
Effect Weight Type beta
PGS Source
PGS Catalog Publication (PGP) ID PGP000051
Citation (link to publication) Xu Y et al. Cell Genom (2022)
Ancestry Distribution
Source of Variant
Associations (GWAS)
European: 100%
407,850 individuals (100%)
Score Development/Training
European: 100%
326,280 individuals (100%)
PGS Evaluation
European: 100%
2 Sample Sets

Development Samples

Source of Variant Associations (GWAS)
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Study Identifiers
Sample Numbers
Sample Ancestry
Cohort(s)
407,850 individuals,
46.0 % Male samples
EuropeanUKB
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Score Development/Training
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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
326,280 individuals,
46.0 % Male samples
EuropeanUKBMean = 57.22 years
Range = [38.87, 72.91] years
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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.

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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
PPM000232PSS000165|
European Ancestry|
81,570 individuals
PGP000051 |
Xu Y et al. Cell Genom (2022)
Reported Trait: Mean corpuscular hemoglobin concentrationPearson correlation coefficent (r): 0.2805age, sex, 10 PCs of ancestry, lifestyle factors (diet, smoking, alcohol consumption), technical cova... riates (the time between venepuncture and full blood cell analysis, seasonal effects, centre of sample collection, time dependent drift of equipment, systematic differences in equipment)Show moreUKB Testing Set - these samples were held out from Score Development (regression training) but overl... ap with the samples used for variant selection (GWAS)Show more
PPM000233PSS000139|
European Ancestry|
40,265 individuals
PGP000051 |
Xu Y et al. Cell Genom (2022)
Reported Trait: Mean corpuscular hemoglobin concentrationPearson correlation coefficent (r): 0.29105age, sex, 10 PCs of ancestry, lifestyle factors (diet, smoking, alcohol consumption), technical cova... riates (the time between venepuncture and full blood cell analysis, seasonal effects, centre of sample collection, time dependent drift of equipment, systematic differences in equipment)Show more
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Evaluated Samples

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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
PSS00013940,265 individuals,
50.0 % Male samples
Mean = 43.83 years
Range = [18.0, 76.4] years
EuropeanINTERVAL
PSS00016581,570 individuals,
46.0 % Male samples
Mean = 57.27 years
Range = [39.98, 70.7] years
EuropeanUKB
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