PGS Catalog - PGS003330 / Factor VIII levels (Polygenic Score)

Polygenic Score (PGS) ID: PGS003330

Predicted Trait
Reported Trait	Factor VIII levels
Mapped Trait(s)	factor VIII measurement (EFO_0004630)

Released in PGS Catalog: Nov. 23, 2022

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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	PRS-F8
Development Method
Name	Genome-wide significant SNPs
Parameters	NR
Variants
Original Genome Build	NR
Number of Variants	10
Effect Weight Type	beta

PGS Source
PGS Catalog Publication (PGP) ID	PGP000395
Citation (link to publication)	Valenti L et al. JHEP Rep (2022)

Ancestry Distribution
Source of Variant Associations (GWAS)	European: 79.4% African: 13.8% Hispanic or Latin American: 4.4% Multi-ancestry (excluding European): 2.4% South Asian East Asian 32,610 individuals (100%)
PGS Evaluation	European: 100% 1 Sample Sets

Development Samples

Source of Variant Associations (GWAS)

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Study Identifiers	Sample Numbers	Sample Ancestry	Cohort(s)
GWAS Catalog: GCST007445 Europe PMC: 30586737	773 individuals	South Asian,East Asian	NR
GWAS Catalog: GCST007445 Europe PMC: 30586737	1,440 individuals	Hispanic or Latin American	NR
GWAS Catalog: GCST007445 Europe PMC: 30586737	25,897 individuals	European	NR
GWAS Catalog: GCST007445 Europe PMC: 30586737	4,500 individuals	African American or Afro-Caribbean	NR

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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
PPM016128	PSS010041\| European Ancestry\| 581 individuals	PGP000395 \| Valenti L et al. JHEP Rep (2022)	Reported Trait: von Willebrand factor	β: 152.57 (14.24)	—	—	—	—
PPM016129	PSS010041\| European Ancestry\| 581 individuals	PGP000395 \| Valenti L et al. JHEP Rep (2022)	Reported Trait: Factor VIII levels	β: 92.45 (10.2)	—	—	—	—
PPM016130	PSS010041\| European Ancestry\| 581 individuals	PGP000395 \| Valenti L et al. JHEP Rep (2022)	Reported Trait: Factor VIII/protein ratio	β: 0.88 (0.11)	—	—	—	—

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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
PSS010041	—	—	581 individuals	—	European (majority European)	—	NR	LIVER-BIBLE

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