Trait: factor VIII measurement

Experimental Factor Ontology (EFO) Information
Identifier EFO_0004630
Description Is a quantification of factor VIII in serum, Factor VIII (FVIII) is an essential blood clotting protein, also known as anti-hemophilic factor (AHF). In humans, Factor VIII is encoded by the F8 gene.[1][2] Defects in this gene results in hemophilia A.
Trait category
Hematological measurement
Synonym factor VIII levels
Mapped term NCIt:C81961

Associated Polygenic Score(s)

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Individuals included in:
G - Source of Variant Associations (GWAS)
D - Score Development/Training
E - PGS Evaluation
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Polygenic Score ID & Name PGS Publication ID (PGP) Reported Trait Mapped Trait(s) (Ontology) Number of Variants Ancestry distribution
GWAS
Dev
Eval
 Scoring File (FTP Link)
PGS003330
(PRS-F8)
 PGP000395 |
Valenti L et al. JHEP Rep (2022)
 Factor VIII levels factor VIII measurement 10
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003330/ScoringFiles/PGS003330.txt.gz

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) 		Evaluated Score 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 PGS003330
(PRS-F8)
 PSS010041|
European Ancestry|
581 individuals
 PGP000395 |
Valenti L et al. JHEP Rep (2022)
 Reported Trait: von Willebrand factor β: 152.57 (14.24) — — — —
PPM016129 PGS003330
(PRS-F8)
 PSS010041|
European Ancestry|
581 individuals
 PGP000395 |
Valenti L et al. JHEP Rep (2022)
 Reported Trait: Factor VIII levels β: 92.45 (10.2) — — — —
PPM016130 PGS003330
(PRS-F8)
 PSS010041|
European Ancestry|
581 individuals
 PGP000395 |
Valenti L et al. JHEP Rep (2022)
 Reported Trait: Factor VIII/protein ratio β: 0.88 (0.11) — — — —

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