Polygenic Score (PGS) ID: PGS002261

Predicted Trait
Reported Trait Neuroblastoma
Mapped Trait(s) neuroblastoma (EFO_0000621)
Released in PGS Catalog: March 16, 2022
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Score Details

Score Construction
PGS Name PRS22_NB
Development Method
Name Genome-wide independent SNPs
Parameters r2<0.1
Variants
Original Genome Build GRCh37
Number of Variants 22
Effect Weight Type log(OR)
PGS Source
PGS Catalog Publication (PGP) ID PGP000287
Citation (link to publication) Testori A et al. Cancer Epidemiol Biomarkers Prev (2022)
Ancestry Distribution
Source of Variant
Associations (GWAS)
European: 100%
6,303 individuals (100%)
PGS Evaluation
African: 100%
1 Sample Sets

Development Samples

Source of Variant Associations (GWAS)
Study Identifiers Sample Numbers Sample Ancestry Cohort(s)
GWAS Catalog: GCST004510
Europe PMC: 28545128
6,303 individuals European COG

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
PPM012873 PSS009587|
African Ancestry|
3,619 individuals
PGP000287 |
Testori A et al. Cancer Epidemiol Biomarkers Prev (2022)
Reported Trait: Neuroblastoma risk : 0.0203

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
PSS009587
[
  • 629 cases
  • , 2,990 controls
]
African American or Afro-Caribbean
(African American)
COG