Trait: Thrombocytopenia

Trait Information
Identifier HP_0001873
Description A reduction in the number of circulating thrombocytes.
Trait category
Other trait
Synonym Low platelet count
Mapped terms 7 mapped terms
  • MSH:D013921
  • MeSH:D013921
  • OMIM:617441
  • SNOMEDCT_US:302215000
  • SNOMEDCT_US:415116008
  • UMLS:C0040034
  • UMLS:C0392386

Associated Polygenic Score(s)

Filter PGS by Participant Ancestry
Individuals included in:
G - Source of Variant Associations (GWAS)
D - Score Development/Training
E - PGS Evaluation
List of ancestries includes:
Display options:
Ancestry legend
Multi-ancestry (including European)
Multi-ancestry (excluding European)
East Asian
South Asian
Additional Asian Ancestries
Greater Middle Eastern
Hispanic or Latin American
Additional Diverse Ancestries
Not Reported
Polygenic Score ID & Name PGS Publication ID (PGP) Reported Trait Mapped Trait(s) (Ontology) Number of Variants Ancestry distribution Scoring File (FTP Link)
PGP000563 |
Yang Z et al. Blood (2023)
Gestational thrombocytopenia Thrombocytopenia 475,029

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
Performance Source Trait PGS Effect Sizes
(per SD change)
Classification Metrics Other Metrics Covariates Included in the Model PGS Performance:
Other Relevant Information
PPM020700 PGS004585
East Asian Ancestry|
936 individuals
PGP000563 |
Yang Z et al. Blood (2023)
Reported Trait: Gestational Thrombocytopenia AUROC: 0.636 : 0.04

Evaluated Samples

PGS Sample Set ID
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
PSS011368 Pregnancy has at least one platelet count less than 150×109/L in the second or third trimester of pregnancy. Pregnancies complicated by preeclampsia, HELLP syndrome (hemolysis, elevated liver enzymes, and low platelet count), primary immune thrombocytopenia, HIV infection, hepatitis B virus, and hepatitis C virus infection or with one or more platelet count less than 50×109/L during pregnancy were excluded.
  • 97 cases
  • , 839 controls
0.0 % Male samples
East Asian
NIPT PLUS 5,733 Chinese pregnant women underwent non-invasive prenatal PLUS testing.