Trait: deep vein thrombosis

Experimental Factor Ontology (EFO) Information
Identifier EFO_0003907
Description The formation or presence of a blood clot (THROMBUS) within a deep vein in the lower extremity
Trait category
Other trait
Synonyms 20 synonyms
  • DVT
  • Deep Vein Thromboses
  • Deep Venous Thromboses
  • Deep Venous Thrombosis
  • Deep-Vein Thromboses
  • Deep-Vein Thrombosis
  • Deep-Venous Thromboses
  • Deep-Venous Thrombosis
  • Thromboses, Deep Vein
  • Thromboses, Deep Venous
  • Thromboses, Deep-Vein
  • Thromboses, Deep-Venous
  • Thrombosis, Deep Vein
  • Thrombosis, Deep Venous
  • Thrombosis, Deep-Vein
  • Thrombosis, Deep-Venous
  • Vein Thromboses, Deep
  • Vein Thrombosis, Deep
  • Venous Thromboses, Deep
  • Venous Thrombosis, Deep
Mapped terms 3 mapped terms
  • MedDRA:10051055
  • NCIt:C49343
  • SNOMEDCT:128053003

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)
PGS000931
(GBE_BIN_FC11006152)
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Blood clot or deep vein thrombosis (diagnosed by doctor) deep vein thrombosis,
thrombotic disease		 534
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000931/ScoringFiles/PGS000931.txt.gz
PGS001264
(GBE_HC166)
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Deep vein thrombosis deep vein thrombosis 839
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001264/ScoringFiles/PGS001264.txt.gz
PGS001265
(GBE_BIN_FC6006152)
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Deep vein thrombosis (leg) deep vein thrombosis 1,530
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001265/ScoringFiles/PGS001265.txt.gz
PGS001266
(GBE_BIN_FC1006152)
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Deep vein thrombosis (diagnosed by doctor) deep vein thrombosis 1,773
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001266/ScoringFiles/PGS001266.txt.gz
PGS001277
(GBE_HC203)
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 PE +/- DVT pulmonary embolism,
deep vein thrombosis		 96
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001277/ScoringFiles/PGS001277.txt.gz
PGS001278
(GBE_BIN_FC12006152)
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 previously: Blood clot in the leg (DVT) or lung pulmonary embolism,
deep vein thrombosis		 551
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001278/ScoringFiles/PGS001278.txt.gz
PGS001279
(GBE_BIN_FC8006152)
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 previously: Blood clot in the lung pulmonary embolism,
deep vein thrombosis		 94
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001279/ScoringFiles/PGS001279.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
PPM007482 PGS000931
(GBE_BIN_FC11006152)
 PSS003790|
African Ancestry|
4,390 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Blood clot or DVT diagnosed by doctor — AUROC: 0.61925 [0.57619, 0.6623] R²: 0.02193
Incremental AUROC (full-covars): -0.00229
PGS R2 (no covariates): 0.00035
PGS AUROC (no covariates): 0.50724 [0.46275, 0.55173]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007483 PGS000931
(GBE_BIN_FC11006152)
 PSS003791|
East Asian Ancestry|
952 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Blood clot or DVT diagnosed by doctor — AUROC: 0.68652 [0.54244, 0.83061] R²: 0.05141
Incremental AUROC (full-covars): 0.00532
PGS R2 (no covariates): 0.00103
PGS AUROC (no covariates): 0.5328 [0.37688, 0.68873]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007484 PGS000931
(GBE_BIN_FC11006152)
 PSS003792|
European Ancestry|
17,648 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Blood clot or DVT diagnosed by doctor — AUROC: 0.64786 [0.62647, 0.66925] R²: 0.03411
Incremental AUROC (full-covars): 0.03737
PGS R2 (no covariates): 0.01507
PGS AUROC (no covariates): 0.59359 [0.57084, 0.61634]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007485 PGS000931
(GBE_BIN_FC11006152)
 PSS003793|
South Asian Ancestry|
5,480 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Blood clot or DVT diagnosed by doctor — AUROC: 0.63964 [0.59263, 0.68666] R²: 0.02677
Incremental AUROC (full-covars): 0.01249
PGS R2 (no covariates): 0.00502
PGS AUROC (no covariates): 0.55473 [0.50496, 0.60449]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007486 PGS000931
(GBE_BIN_FC11006152)
 PSS003794|
European Ancestry|
48,060 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Blood clot or DVT diagnosed by doctor — AUROC: 0.62837 [0.61546, 0.64128] R²: 0.02953
Incremental AUROC (full-covars): 0.0429
PGS R2 (no covariates): 0.01795
PGS AUROC (no covariates): 0.59176 [0.57816, 0.60536]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008825 PGS001264
(GBE_HC166)
 PSS004317|
African Ancestry|
6,497 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: DVT — AUROC: 0.59693 [0.54555, 0.64831] R²: 0.01434
Incremental AUROC (full-covars): -0.01669
PGS R2 (no covariates): 1e-05
PGS AUROC (no covariates): 0.48616 [0.43296, 0.53936]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008826 PGS001264
(GBE_HC166)
 PSS004318|
East Asian Ancestry|
1,704 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: DVT — AUROC: 0.61394 [0.40098, 0.8269] R²: 0.02433
Incremental AUROC (full-covars): -0.05665
PGS R2 (no covariates): 0.02803
PGS AUROC (no covariates): 0.34405 [0.14931, 0.5388]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008827 PGS001264
(GBE_HC166)
 PSS004319|
European Ancestry|
24,905 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: DVT — AUROC: 0.66169 [0.63804, 0.68534] R²: 0.03622
Incremental AUROC (full-covars): 0.02668
PGS R2 (no covariates): 0.01176
PGS AUROC (no covariates): 0.58323 [0.55692, 0.60955]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008828 PGS001264
(GBE_HC166)
 PSS004320|
South Asian Ancestry|
7,831 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: DVT — AUROC: 0.64561 [0.58823, 0.703] R²: 0.02969
Incremental AUROC (full-covars): 0.00326
PGS R2 (no covariates): 0.00504
PGS AUROC (no covariates): 0.56273 [0.50177, 0.62369]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008829 PGS001264
(GBE_HC166)
 PSS004321|
European Ancestry|
67,425 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: DVT — AUROC: 0.63698 [0.62257, 0.65138] R²: 0.02749
Incremental AUROC (full-covars): 0.0419
PGS R2 (no covariates): 0.01535
PGS AUROC (no covariates): 0.5923 [0.57682, 0.60778]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008830 PGS001265
(GBE_BIN_FC6006152)
 PSS003994|
African Ancestry|
6,348 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Blood clot in the leg (DVT) — AUROC: 0.57103 [0.5199, 0.62216] R²: 0.01008
Incremental AUROC (full-covars): -0.02728
PGS R2 (no covariates): 0.0
PGS AUROC (no covariates): 0.49766 [0.44543, 0.54989]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008831 PGS001265
(GBE_BIN_FC6006152)
 PSS003995|
East Asian Ancestry|
1,640 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Blood clot in the leg (DVT) — AUROC: 0.63771 [0.46295, 0.81247] R²: 0.02767
Incremental AUROC (full-covars): -0.06036
PGS R2 (no covariates): 0.02301
PGS AUROC (no covariates): 0.36208 [0.17892, 0.54524]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008832 PGS001265
(GBE_BIN_FC6006152)
 PSS003996|
European Ancestry|
24,838 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Blood clot in the leg (DVT) — AUROC: 0.65672 [0.63317, 0.68026] R²: 0.03399
Incremental AUROC (full-covars): 0.02882
PGS R2 (no covariates): 0.01234
PGS AUROC (no covariates): 0.58768 [0.56206, 0.61329]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008833 PGS001265
(GBE_BIN_FC6006152)
 PSS003997|
South Asian Ancestry|
7,556 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Blood clot in the leg (DVT) — AUROC: 0.62462 [0.57005, 0.67919] R²: 0.02045
Incremental AUROC (full-covars): 0.0075
PGS R2 (no covariates): 0.00479
PGS AUROC (no covariates): 0.56322 [0.5071, 0.61933]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008834 PGS001265
(GBE_BIN_FC6006152)
 PSS003998|
European Ancestry|
67,349 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Blood clot in the leg (DVT) — AUROC: 0.63743 [0.62331, 0.65154] R²: 0.02831
Incremental AUROC (full-covars): 0.04083
PGS R2 (no covariates): 0.01552
PGS AUROC (no covariates): 0.59171 [0.57659, 0.60683]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008835 PGS001266
(GBE_BIN_FC1006152)
 PSS003780|
African Ancestry|
4,351 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: DVT diagnosed by doctor — AUROC: 0.60583 [0.55495, 0.65672] R²: 0.01929
Incremental AUROC (full-covars): -0.01777
PGS R2 (no covariates): 8e-05
PGS AUROC (no covariates): 0.50292 [0.45113, 0.55471]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008836 PGS001266
(GBE_BIN_FC1006152)
 PSS003781|
East Asian Ancestry|
949 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: DVT diagnosed by doctor — AUROC: 0.63783 [0.4637, 0.81195] R²: 0.03121
Incremental AUROC (full-covars): -0.05863
PGS R2 (no covariates): 0.02253
PGS AUROC (no covariates): 0.35887 [0.15439, 0.56334]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008837 PGS001266
(GBE_BIN_FC1006152)
 PSS003782|
European Ancestry|
17,524 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: DVT diagnosed by doctor — AUROC: 0.64909 [0.62535, 0.67282] R²: 0.03386
Incremental AUROC (full-covars): 0.02852
PGS R2 (no covariates): 0.01323
PGS AUROC (no covariates): 0.58862 [0.56306, 0.61418]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008838 PGS001266
(GBE_BIN_FC1006152)
 PSS003783|
South Asian Ancestry|
5,450 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: DVT diagnosed by doctor — AUROC: 0.62654 [0.57175, 0.68132] R²: 0.02365
Incremental AUROC (full-covars): 0.00654
PGS R2 (no covariates): 0.00539
PGS AUROC (no covariates): 0.56216 [0.50579, 0.61854]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008839 PGS001266
(GBE_BIN_FC1006152)
 PSS003784|
European Ancestry|
47,689 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: DVT diagnosed by doctor — AUROC: 0.63094 [0.61664, 0.64525] R²: 0.02868
Incremental AUROC (full-covars): 0.04553
PGS R2 (no covariates): 0.0177
PGS AUROC (no covariates): 0.59437 [0.5792, 0.60954]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008883 PGS001277
(GBE_HC203)
 PSS004344|
African Ancestry|
6,497 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: PE +/- DVT — AUROC: 0.65081 [0.59936, 0.70226] R²: 0.03099
Incremental AUROC (full-covars): 0.01
PGS R2 (no covariates): 0.00418
PGS AUROC (no covariates): 0.55179 [0.49456, 0.60901]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008884 PGS001277
(GBE_HC203)
 PSS004345|
East Asian Ancestry|
1,704 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: PE +/- DVT — AUROC: 0.8083 [0.66236, 0.95424] R²: 0.12334
Incremental AUROC (full-covars): -0.0014
PGS R2 (no covariates): 0.0
PGS AUROC (no covariates): 0.51341 [0.35575, 0.67107]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008885 PGS001277
(GBE_HC203)
 PSS004346|
European Ancestry|
24,905 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: PE +/- DVT — AUROC: 0.67497 [0.64702, 0.70293] R²: 0.03998
Incremental AUROC (full-covars): 0.03149
PGS R2 (no covariates): 0.01508
PGS AUROC (no covariates): 0.61144 [0.58149, 0.6414]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008886 PGS001277
(GBE_HC203)
 PSS004347|
South Asian Ancestry|
7,831 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: PE +/- DVT — AUROC: 0.69135 [0.62082, 0.76187] R²: 0.03814
Incremental AUROC (full-covars): 0.03509
PGS R2 (no covariates): 0.01582
PGS AUROC (no covariates): 0.63463 [0.5672, 0.70206]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008887 PGS001277
(GBE_HC203)
 PSS004348|
European Ancestry|
67,425 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: PE +/- DVT — AUROC: 0.64659 [0.63085, 0.66233] R²: 0.02867
Incremental AUROC (full-covars): 0.03414
PGS R2 (no covariates): 0.0129
PGS AUROC (no covariates): 0.59812 [0.58116, 0.61507]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008888 PGS001278
(GBE_BIN_FC12006152)
 PSS003795|
African Ancestry|
6,348 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Blood clot in the leg (DVT) or lung — AUROC: 0.59279 [0.55016, 0.63542] R²: 0.01242
Incremental AUROC (full-covars): -0.00635
PGS R2 (no covariates): 0.00013
PGS AUROC (no covariates): 0.5015 [0.45729, 0.5457]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008889 PGS001278
(GBE_BIN_FC12006152)
 PSS003796|
East Asian Ancestry|
1,640 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Blood clot in the leg (DVT) or lung — AUROC: 0.66743 [0.52454, 0.81033] R²: 0.03638
Incremental AUROC (full-covars): 0.00793
PGS R2 (no covariates): 7e-05
PGS AUROC (no covariates): 0.50497 [0.35161, 0.65832]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008890 PGS001278
(GBE_BIN_FC12006152)
 PSS003797|
European Ancestry|
24,838 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Blood clot in the leg (DVT) or lung — AUROC: 0.65354 [0.63231, 0.67477] R²: 0.03366
Incremental AUROC (full-covars): 0.03495
PGS R2 (no covariates): 0.01331
PGS AUROC (no covariates): 0.59164 [0.56886, 0.61442]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008891 PGS001278
(GBE_BIN_FC12006152)
 PSS003798|
South Asian Ancestry|
7,556 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Blood clot in the leg (DVT) or lung — AUROC: 0.63523 [0.58822, 0.68224] R²: 0.02321
Incremental AUROC (full-covars): 0.01038
PGS R2 (no covariates): 0.00457
PGS AUROC (no covariates): 0.55523 [0.50541, 0.60504]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008892 PGS001278
(GBE_BIN_FC12006152)
 PSS003799|
European Ancestry|
67,349 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Blood clot in the leg (DVT) or lung — AUROC: 0.63525 [0.6226, 0.64791] R²: 0.02918
Incremental AUROC (full-covars): 0.03836
PGS R2 (no covariates): 0.01554
PGS AUROC (no covariates): 0.58956 [0.57602, 0.6031]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008893 PGS001279
(GBE_BIN_FC8006152)
 PSS004014|
African Ancestry|
6,348 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Blood clot in the lung — AUROC: 0.63917 [0.56071, 0.71763] R²: 0.02075
Incremental AUROC (full-covars): 0.01133
PGS R2 (no covariates): 0.00182
PGS AUROC (no covariates): 0.53508 [0.45261, 0.61756]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008894 PGS001279
(GBE_BIN_FC8006152)
 PSS004015|
East Asian Ancestry|
1,640 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Blood clot in the lung — AUROC: 0.82557 [0.62097, 1.0] R²: 0.16736
Incremental AUROC (full-covars): -0.00024
PGS R2 (no covariates): 0.00388
PGS AUROC (no covariates): 0.57456 [0.37482, 0.77429]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008895 PGS001279
(GBE_BIN_FC8006152)
 PSS004016|
European Ancestry|
24,838 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Blood clot in the lung — AUROC: 0.62994 [0.59262, 0.66726] R²: 0.01985
Incremental AUROC (full-covars): 0.03629
PGS R2 (no covariates): 0.00848
PGS AUROC (no covariates): 0.59191 [0.55186, 0.63196]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008896 PGS001279
(GBE_BIN_FC8006152)
 PSS004017|
South Asian Ancestry|
7,556 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Blood clot in the lung — AUROC: 0.71053 [0.63261, 0.78846] PGS R2 (no covariates): 0.00898
R²: 0.04621
Incremental AUROC (full-covars): 0.02759
PGS AUROC (no covariates): 0.60144 [0.50751, 0.69537]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008897 PGS001279
(GBE_BIN_FC8006152)
 PSS004018|
European Ancestry|
67,349 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Blood clot in the lung — AUROC: 0.62416 [0.60164, 0.64668] R²: 0.01763
Incremental AUROC (full-covars): 0.04457
PGS R2 (no covariates): 0.01146
PGS AUROC (no covariates): 0.60034 [0.57683, 0.62385]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method

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
PSS003780 — —
[
  • 121 cases
  • , 4,230 controls
]
 — African unspecified — UKB —
PSS003781 — —
[
  • 9 cases
  • , 940 controls
]
 — East Asian — UKB —
PSS003782 — —
[
  • 508 cases
  • , 17,016 controls
]
 — European non-white British ancestry UKB —
PSS003783 — —
[
  • 106 cases
  • , 5,344 controls
]
 — South Asian — UKB —
PSS003784 — —
[
  • 1,476 cases
  • , 46,213 controls
]
 — European white British ancestry UKB Testing cohort (heldout set)
PSS003790 — —
[
  • 160 cases
  • , 4,230 controls
]
 — African unspecified — UKB —
PSS003791 — —
[
  • 12 cases
  • , 940 controls
]
 — East Asian — UKB —
PSS003792 — —
[
  • 640 cases
  • , 17,008 controls
]
 — European non-white British ancestry UKB —
PSS003793 — —
[
  • 136 cases
  • , 5,344 controls
]
 — South Asian — UKB —
PSS003794 — —
[
  • 1,859 cases
  • , 46,201 controls
]
 — European white British ancestry UKB Testing cohort (heldout set)
PSS003795 — —
[
  • 160 cases
  • , 6,188 controls
]
 — African unspecified — UKB —
PSS003796 — —
[
  • 12 cases
  • , 1,628 controls
]
 — East Asian — UKB —
PSS003797 — —
[
  • 640 cases
  • , 24,198 controls
]
 — European non-white British ancestry UKB —
PSS003798 — —
[
  • 136 cases
  • , 7,420 controls
]
 — South Asian — UKB —
PSS003799 — —
[
  • 1,859 cases
  • , 65,490 controls
]
 — European white British ancestry UKB Testing cohort (heldout set)
PSS004317 — —
[
  • 114 cases
  • , 6,383 controls
]
 — African unspecified — UKB —
PSS004318 — —
[
  • 7 cases
  • , 1,697 controls
]
 — East Asian — UKB —
PSS004319 — —
[
  • 483 cases
  • , 24,422 controls
]
 — European non-white British ancestry UKB —
PSS004320 — —
[
  • 94 cases
  • , 7,737 controls
]
 — South Asian — UKB —
PSS004321 — —
[
  • 1,430 cases
  • , 65,995 controls
]
 — European white British ancestry UKB Testing cohort (heldout set)
PSS004344 — —
[
  • 99 cases
  • , 6,398 controls
]
 — African unspecified — UKB —
PSS004345 — —
[
  • 8 cases
  • , 1,696 controls
]
 — East Asian — UKB —
PSS004346 — —
[
  • 358 cases
  • , 24,547 controls
]
 — European non-white British ancestry UKB —
PSS004347 — —
[
  • 53 cases
  • , 7,778 controls
]
 — South Asian — UKB —
PSS004348 — —
[
  • 1,130 cases
  • , 66,295 controls
]
 — European white British ancestry UKB Testing cohort (heldout set)
PSS003994 — —
[
  • 121 cases
  • , 6,227 controls
]
 — African unspecified — UKB —
PSS003995 — —
[
  • 9 cases
  • , 1,631 controls
]
 — East Asian — UKB —
PSS003996 — —
[
  • 508 cases
  • , 24,330 controls
]
 — European non-white British ancestry UKB —
PSS003997 — —
[
  • 106 cases
  • , 7,450 controls
]
 — South Asian — UKB —
PSS003998 — —
[
  • 1,476 cases
  • , 65,873 controls
]
 — European white British ancestry UKB Testing cohort (heldout set)
PSS004014 — —
[
  • 54 cases
  • , 6,294 controls
]
 — African unspecified — UKB —
PSS004015 — —
[
  • 5 cases
  • , 1,635 controls
]
 — East Asian — UKB —
PSS004016 — —
[
  • 211 cases
  • , 24,627 controls
]
 — European non-white British ancestry UKB —
PSS004017 — —
[
  • 36 cases
  • , 7,520 controls
]
 — South Asian — UKB —
PSS004018 — —
[
  • 584 cases
  • , 66,765 controls
]
 — European white British ancestry UKB Testing cohort (heldout set)