Polygenic Score (PGS) ID: PGS000654

Predicted Trait
Reported Trait Multiple myeloma
Mapped Trait(s) multiple myeloma (EFO_0001378)
Additional Trait Information PheCode 204.4
Released in PGS Catalog: Dec. 15, 2020
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Score Details

Score Construction
PGS Name PRSWEB_PHECODE204.4_GWAS-Catalog-r2019-05-03-X204.4_PT_UKB_20200608
Development Method
Name Pruning and Thresholding (P+T)
Parameters LD Clumping (MAF >= 1%, r^2 <= 0.1) & P<=2.51e-08
Variants
Original Genome Build GRCh37
Number of Variants 21
Effect Weight Type NR
PGS Source
PGS Catalog Publication (PGP) ID PGP000118
Citation (link to publication) Fritsche LG et al. Am J Hum Genet (2020)
Ancestry Distribution
Source of Variant
Associations (GWAS)
European: 100%
1,048,104 individuals (100%)
Score Development/Training
European: 100%
3,377 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: GCST001331
Europe PMC: 22120009
 7,578 individuals European NR
GWAS Catalog: GCST001906
Europe PMC: 23502783
 8,966 individuals European NR
GWAS Catalog: GCST001907
Europe PMC: 23502783
 8,966 individuals European NR
GWAS Catalog: GCST002140
Europe PMC: 23955597
 9,641 individuals European NR
GWAS Catalog: GCST002921
Europe PMC: 26007630
 224,749 individuals European NR
GWAS Catalog: GCST002922
Europe PMC: 26007630
 296,835 individuals European NR
GWAS Catalog: GCST004483
Europe PMC: 27363682
 241,704 individuals European NR
GWAS Catalog: GCST006432
Europe PMC: 30213928
 249,665 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
Europe PMC: 32991828
[
  • 307 cases
  • , 3,070 controls
]
 European UKB PheCode:204.4; ICD9:203, 203.0, 203.8; ICD10:C88.1, C88.3, C88.9, C90.0, C90.2 — — — —

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
PPM001339 PSS000582|
European Ancestry|
2,738 individuals
 PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
 Reported Trait: Multiple myeloma OR: 1.316 [1.156, 1.499]
β: 0.275 (0.0662)		 AUROC: 0.576 [0.536, 0.616] Nagelkerke's Pseudo-R²: 0.0137
Brier score: 0.0818
Odds Ratio (OR, top 1% vs. Rest): 2.2 [0.854, 5.66]		 age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE204.4_GWAS-Catalog-r2019-05-03-X204.4_PT_UKB_20200608

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
PSS000582 PheCode:204.4; ICD9:203, 203.0, 203.8; ICD10:C88.1, C88.3, C88.9, C90.0, C90.2 —
[
  • 248 cases
  • , 2,490 controls
]
 — European — UKB —