Polygenic Score (PGS) ID: PGS003164

Predicted Trait
Reported Trait Vitamin B12
Mapped Trait(s) vitamin B12 measurement (EFO_0004620)
Additional Trait Information Vitamin B12; Quantitative
Released in PGS Catalog: Nov. 23, 2022
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Score Details

Score Construction
PGS Name ExPRSweb_VitB12_Wood-et-al-2013-1000G_LASSOSUM_MGI_20211120
Development Method
Name lassosum
Parameters Lassosum 0.4.4 (MAF >= 1%; autosomal variants only)s=1;Lambda=0.1
Variants
Original Genome Build GRCh37
Number of Variants 263,612
Effect Weight Type beta
PGS Source
PGS Catalog Publication (PGP) ID PGP000393
Citation (link to publication) Ma Y et al. Am J Hum Genet (2022)
Ancestry Distribution
Source of Variant
Associations (GWAS)
European: 100%
1,210 individuals (100%)
Score Development/Training
European: 100%
4,313 individuals (100%)
PGS Evaluation
European: 100%
1 Sample Sets

Development Samples

Source of Variant Associations (GWAS)
Study Identifiers Sample Numbers Sample Ancestry Cohort(s)
GWAS Catalog: GCST009169
Europe PMC: 23696881
 1,210 individuals European NR
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
— 4,313 individuals European MGI VITAMIN B12 LEVEL (LOINC: 2132-9); Quantitative — — — —

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
PPM016069 PSS010019|
European Ancestry|
4,313 individuals
 PGP000393 |
Ma Y et al. Am J Hum Genet (2022)
 Reported Trait: Vitamin B12 β: 12.0 (3.89) — R²: 0.00207 SEX,AGE,Batch,PC1,PC2,PC3,PC4 —

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
PSS010019 VITAMIN B12 LEVEL (LOINC: 2132-9); Quantitative — 4,313 individuals — European — MGI —