Trait: Hematuria

Trait Information
Identifier HP_0000790
Description The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine).
Trait category
Other trait
Synonyms 2 synonyms
  • Blood in urine
  • High urine occult blood
Mapped terms 3 mapped terms
  • SNOMEDCT_US:34436003
  • SNOMEDCT_US:53298000
  • UMLS:C0018965
Child trait(s) Microscopic hematuria

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
Note: This table shows all PGS for "Hematuria" and any child terms of this trait in the EFO hierarchy by default.
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)
PGS001863
(portability-PLR_593)
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Hematuria Hematuria 794
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001863/ScoringFiles/PGS001863.txt.gz
PGS002074
(portability-ldpred2_593)
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Hematuria Hematuria 664,167
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002074/ScoringFiles/PGS002074.txt.gz
PGS019463
(TPMI_593_Lassosum2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Hematuria Hematuria 229,437
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019463/ScoringFiles/PGS019463.txt.gz
PGS019464
(TPMI_593_LDpred2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Hematuria Hematuria 939,879
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019464/ScoringFiles/PGS019464.txt.gz
PGS019465
(TPMI_593_MegaPRS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Hematuria Hematuria 22,512
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019465/ScoringFiles/PGS019465.txt.gz
PGS019466
(TPMI_593_PRS-CS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Hematuria Hematuria 983,820
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019466/ScoringFiles/PGS019466.txt.gz
PGS019467
(TPMI_593_SBayesR)
 PGP000835 |
Chen HH et al. Nature (2025)
 Hematuria Hematuria 968,181
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019467/ScoringFiles/PGS019467.txt.gz
PGS019468
(TPMI_593.2_Lassosum2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Microscopic hematuria Microscopic hematuria 294,454
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019468/ScoringFiles/PGS019468.txt.gz
PGS019469
(TPMI_593.2_LDpred2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Microscopic hematuria Microscopic hematuria 939,824
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019469/ScoringFiles/PGS019469.txt.gz
PGS019470
(TPMI_593.2_MegaPRS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Microscopic hematuria Microscopic hematuria 40,557
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019470/ScoringFiles/PGS019470.txt.gz
PGS019471
(TPMI_593.2_PRS-CS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Microscopic hematuria Microscopic hematuria 983,778
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019471/ScoringFiles/PGS019471.txt.gz
PGS019472
(TPMI_593.2_SBayesR)
 PGP000835 |
Chen HH et al. Nature (2025)
 Microscopic hematuria Microscopic hematuria 1,005,807
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019472/ScoringFiles/PGS019472.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
PPM009795 PGS001863
(portability-PLR_593)
 PSS008666|
European Ancestry|
6,420 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Hematuria — — Partial Correlation (partial-r): 0.0214 [-0.0031, 0.0459] sex, age, birth date, deprivation index, 16 PCs —
PPM009793 PGS001863
(portability-PLR_593)
 PSS009338|
European Ancestry|
19,287 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Hematuria — — Partial Correlation (partial-r): 0.03 [0.0159, 0.0441] sex, age, birth date, deprivation index, 16 PCs —
PPM009794 PGS001863
(portability-PLR_593)
 PSS009112|
European Ancestry|
4,016 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Hematuria — — Partial Correlation (partial-r): 0.0138 [-0.0172, 0.0448] sex, age, birth date, deprivation index, 16 PCs —
PPM009796 PGS001863
(portability-PLR_593)
 PSS008440|
Greater Middle Eastern Ancestry|
1,159 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Hematuria — — Partial Correlation (partial-r): -0.0225 [-0.0805, 0.0356] sex, age, birth date, deprivation index, 16 PCs —
PPM009797 PGS001863
(portability-PLR_593)
 PSS008220|
South Asian Ancestry|
6,067 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Hematuria — — Partial Correlation (partial-r): 0.0329 [0.0077, 0.0581] sex, age, birth date, deprivation index, 16 PCs —
PPM009798 PGS001863
(portability-PLR_593)
 PSS008001|
East Asian Ancestry|
1,766 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Hematuria — — Partial Correlation (partial-r): 0.0088 [-0.0382, 0.0557] sex, age, birth date, deprivation index, 16 PCs —
PPM009799 PGS001863
(portability-PLR_593)
 PSS007785|
African Ancestry|
2,389 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Hematuria — — Partial Correlation (partial-r): 0.027 [-0.0133, 0.0672] sex, age, birth date, deprivation index, 16 PCs —
PPM009800 PGS001863
(portability-PLR_593)
 PSS008889|
African Ancestry|
3,775 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Hematuria — — Partial Correlation (partial-r): 0.0212 [-0.0107, 0.0532] sex, age, birth date, deprivation index, 16 PCs —
PPM011453 PGS002074
(portability-ldpred2_593)
 PSS009338|
European Ancestry|
19,287 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Hematuria — — Partial Correlation (partial-r): 0.033 [0.0189, 0.0471] sex, age, birth date, deprivation index, 16 PCs —
PPM011454 PGS002074
(portability-ldpred2_593)
 PSS009112|
European Ancestry|
4,016 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Hematuria — — Partial Correlation (partial-r): 0.0196 [-0.0114, 0.0506] sex, age, birth date, deprivation index, 16 PCs —
PPM011455 PGS002074
(portability-ldpred2_593)
 PSS008666|
European Ancestry|
6,420 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Hematuria — — Partial Correlation (partial-r): 0.0418 [0.0173, 0.0663] sex, age, birth date, deprivation index, 16 PCs —
PPM011458 PGS002074
(portability-ldpred2_593)
 PSS008001|
East Asian Ancestry|
1,766 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Hematuria — — Partial Correlation (partial-r): 0.028 [-0.019, 0.0748] sex, age, birth date, deprivation index, 16 PCs —
PPM011459 PGS002074
(portability-ldpred2_593)
 PSS007785|
African Ancestry|
2,389 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Hematuria — — Partial Correlation (partial-r): 0.0395 sex, age, birth date, deprivation index, 16 PCs —
PPM011460 PGS002074
(portability-ldpred2_593)
 PSS008889|
African Ancestry|
3,775 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Hematuria — — Partial Correlation (partial-r): 0.0273 [-0.0047, 0.0593] sex, age, birth date, deprivation index, 16 PCs —
PPM011456 PGS002074
(portability-ldpred2_593)
 PSS008440|
Greater Middle Eastern Ancestry|
1,159 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Hematuria — — Partial Correlation (partial-r): -0.0051 [-0.0632, 0.053] sex, age, birth date, deprivation index, 16 PCs —
PPM011457 PGS002074
(portability-ldpred2_593)
 PSS008220|
South Asian Ancestry|
6,067 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Hematuria — — Partial Correlation (partial-r): 0.028 [0.0028, 0.0532] sex, age, birth date, deprivation index, 16 PCs —
PPM037645 PGS019463
(TPMI_593_Lassosum2)
 PSS013371|
East Asian Ancestry|
17,613 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Hematuria — AUROC: 0.59604 R²: 0.02834 sex, age, array, PCs 1-10 —
PPM037646 PGS019464
(TPMI_593_LDpred2)
 PSS013370|
East Asian Ancestry|
17,613 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Hematuria — AUROC: 0.59773 R²: 0.02894 sex, age, array, PCs 1-10 —
PPM037647 PGS019465
(TPMI_593_MegaPRS)
 PSS013372|
East Asian Ancestry|
17,613 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Hematuria — AUROC: 0.59313 R²: 0.0273 sex, age, array, PCs 1-10 —
PPM037648 PGS019466
(TPMI_593_PRS-CS)
 PSS013373|
East Asian Ancestry|
17,613 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Hematuria — AUROC: 0.59763 R²: 0.02851 sex, age, array, PCs 1-10 —
PPM037649 PGS019467
(TPMI_593_SBayesR)
 PSS013374|
East Asian Ancestry|
17,613 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Hematuria — AUROC: 0.59267 R²: 0.02693 sex, age, array, PCs 1-10 —
PPM037650 PGS019468
(TPMI_593.2_Lassosum2)
 PSS013366|
East Asian Ancestry|
16,818 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Microscopic hematuria — AUROC: 0.6893 R²: 0.00698 sex, age, array, PCs 1-10 —
PPM037651 PGS019469
(TPMI_593.2_LDpred2)
 PSS013365|
East Asian Ancestry|
16,818 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Microscopic hematuria — AUROC: 0.68835 R²: 0.00696 sex, age, array, PCs 1-10 —
PPM037652 PGS019470
(TPMI_593.2_MegaPRS)
 PSS013367|
East Asian Ancestry|
16,818 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Microscopic hematuria — AUROC: 0.6884 R²: 0.00695 sex, age, array, PCs 1-10 —
PPM037653 PGS019471
(TPMI_593.2_PRS-CS)
 PSS013368|
East Asian Ancestry|
16,818 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Microscopic hematuria — AUROC: 0.68854 R²: 0.00697 sex, age, array, PCs 1-10 —
PPM037654 PGS019472
(TPMI_593.2_SBayesR)
 PSS013369|
East Asian Ancestry|
16,818 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Microscopic hematuria — AUROC: 0.68844 R²: 0.00694 sex, age, array, PCs 1-10 —

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
PSS013373 599.7,R31 —
[
  • 921 cases
  • , 16,692 controls
]
,
48.24 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS013374 599.7,R31 —
[
  • 921 cases
  • , 16,692 controls
]
,
48.24 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS007785 — — 2,389 individuals — African American or Afro-Caribbean Carribean UKB —
PSS013365 599.72,R31.1, R31.2 —
[
  • 126 cases
  • , 16,692 controls
]
,
48.18 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS013372 599.7,R31 —
[
  • 921 cases
  • , 16,692 controls
]
,
48.24 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS013366 599.72,R31.1, R31.2 —
[
  • 126 cases
  • , 16,692 controls
]
,
48.18 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS009112 — — 4,016 individuals — European Poland (NE Europe) UKB —
PSS008440 — — 1,159 individuals — Greater Middle Eastern (Middle Eastern, North African or Persian) Iran (Middle East) UKB —
PSS009338 — — 19,287 individuals — European UK (+ Ireland) UKB —
PSS008666 — — 6,420 individuals — European Italy (South Europe) UKB —
PSS008220 — — 6,067 individuals — South Asian India (South Asia) UKB —
PSS008889 — — 3,775 individuals — African unspecified Nigeria (West Africa) UKB —
PSS013367 599.72,R31.1, R31.2 —
[
  • 126 cases
  • , 16,692 controls
]
,
48.18 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS013368 599.72,R31.1, R31.2 —
[
  • 126 cases
  • , 16,692 controls
]
,
48.18 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS013369 599.72,R31.1, R31.2 —
[
  • 126 cases
  • , 16,692 controls
]
,
48.18 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS008001 — — 1,766 individuals — East Asian China (East Asia) UKB —
PSS013371 599.7,R31 —
[
  • 921 cases
  • , 16,692 controls
]
,
48.24 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS013370 599.7,R31 —
[
  • 921 cases
  • , 16,692 controls
]
,
48.24 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —