Trait: congenital vitamin K-dependent coagulation factors deficiency

Trait Information
Identifier MONDO_0015722
Description Congenital vitamin K-dependent coagulation factors deficiency involving multiple coagulation factors.
Trait category
Other disease
Synonyms 2 synonyms
  • congenital vitamin K-dependent coagulation factors combined deficiency
  • vitamin K-dependent clotting factors, combined deficiency of
Mapped terms 8 mapped terms
  • DOID:0112172
  • GARD:20121
  • MEDGEN:1378036
  • OMIMPS:277450
  • Orphanet:169826
  • Orphanet:98434
  • UMLS:C4510617
  • icd11.foundation:54644599

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)
African
East Asian
South Asian
Additional Asian Ancestries
European
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
GWAS
Dev
Eval
 Scoring File (FTP Link)
PGS001826
(portability-PLR_286.12)
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Congenital deficiency of other clotting factors (including factor VII) congenital vitamin K-dependent coagulation factors deficiency 45
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001826/ScoringFiles/PGS001826.txt.gz
PGS002034
(portability-ldpred2_286.12)
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Congenital deficiency of other clotting factors (including factor VII) congenital vitamin K-dependent coagulation factors deficiency 32,552
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002034/ScoringFiles/PGS002034.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
PPM009505 PGS001826
(portability-PLR_286.12)
 PSS009296|
European Ancestry|
19,864 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Congenital deficiency of other clotting factors (including factor VII) — — Partial Correlation (partial-r): 0.0562 [0.0424, 0.0701] sex, age, birth date, deprivation index, 16 PCs —
PPM009506 PGS001826
(portability-PLR_286.12)
 PSS009070|
European Ancestry|
4,108 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Congenital deficiency of other clotting factors (including factor VII) — — Partial Correlation (partial-r): 0.0487 [0.018, 0.0792] sex, age, birth date, deprivation index, 16 PCs —
PPM009507 PGS001826
(portability-PLR_286.12)
 PSS008624|
European Ancestry|
6,613 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Congenital deficiency of other clotting factors (including factor VII) — — Partial Correlation (partial-r): 0.0377 [0.0136, 0.0618] sex, age, birth date, deprivation index, 16 PCs —
PPM009508 PGS001826
(portability-PLR_286.12)
 PSS008178|
South Asian Ancestry|
6,272 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Congenital deficiency of other clotting factors (including factor VII) — — Partial Correlation (partial-r): 0.0354 [0.0106, 0.0601] sex, age, birth date, deprivation index, 16 PCs —
PPM011143 PGS002034
(portability-ldpred2_286.12)
 PSS009296|
European Ancestry|
19,864 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Congenital deficiency of other clotting factors (including factor VII) — — Partial Correlation (partial-r): 0.0563 [0.0424, 0.0702] sex, age, birth date, deprivation index, 16 PCs —
PPM011144 PGS002034
(portability-ldpred2_286.12)
 PSS009070|
European Ancestry|
4,108 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Congenital deficiency of other clotting factors (including factor VII) — — Partial Correlation (partial-r): 0.0533 [0.0227, 0.0838] sex, age, birth date, deprivation index, 16 PCs —
PPM011145 PGS002034
(portability-ldpred2_286.12)
 PSS008624|
European Ancestry|
6,613 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Congenital deficiency of other clotting factors (including factor VII) — — Partial Correlation (partial-r): 0.046 [0.0219, 0.07] sex, age, birth date, deprivation index, 16 PCs —
PPM011146 PGS002034
(portability-ldpred2_286.12)
 PSS008178|
South Asian Ancestry|
6,272 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Congenital deficiency of other clotting factors (including factor VII) — — Partial Correlation (partial-r): 0.0358 [0.011, 0.0605] sex, age, birth date, deprivation index, 16 PCs —

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
PSS009070 — — 4,108 individuals — European Poland (NE Europe) UKB —
PSS008624 — — 6,613 individuals — European Italy (South Europe) UKB —
PSS009296 — — 19,864 individuals — European UK (+ Ireland) UKB —
PSS008178 — — 6,272 individuals — South Asian India (South Asia) UKB —