Trait: Abnormality of the skeletal system

Trait Information
Identifier HP_0000924
Description An abnormality of the skeletal system.
Trait category
Other trait
Synonyms 3 synonyms
  • Abnormality of the skeletal system
  • Skeletal abnormalities
  • Skeletal anomalies
Mapped terms 2 mapped terms
  • ICD10:R29
  • UMLS:C4021790
Child trait(s) 5 child traits

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 "Abnormality of the skeletal system" 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)
PGS001522
(GBE_HC1213)
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Psoriatic and enteropathic arthropathies (time-to-event) Arthropathy 17
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001522/ScoringFiles/PGS001522.txt.gz
PGS001877
(portability-PLR_716)
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Other arthropathies Arthropathy 17,363
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001877/ScoringFiles/PGS001877.txt.gz
PGS001881
(portability-PLR_735.3)
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Hallux valgus (Bunion) Hallux valgus 4,527
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001881/ScoringFiles/PGS001881.txt.gz
PGS002090
(portability-ldpred2_716)
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Other arthropathies Arthropathy 859,336
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002090/ScoringFiles/PGS002090.txt.gz
PGS002093
(portability-ldpred2_735.3)
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Hallux valgus (Bunion) Hallux valgus 773,461
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002093/ScoringFiles/PGS002093.txt.gz
PGS004380
(X23106.score)
 PGP000561 |
Jung H et al. Commun Biol (2024)
 Impedance of whole body Abnormality of the skeletal system 1,059,939
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004380/ScoringFiles/PGS004380.txt.gz
PGS004381
(X23107.score)
 PGP000561 |
Jung H et al. Commun Biol (2024)
 Impedance of leg (right) Abnormality of the skeletal system 1,059,939
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004381/ScoringFiles/PGS004381.txt.gz
PGS004382
(X23108.score)
 PGP000561 |
Jung H et al. Commun Biol (2024)
 Impedance of leg (left) Abnormality of the skeletal system 1,059,939
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004382/ScoringFiles/PGS004382.txt.gz
PGS004383
(X23109.score)
 PGP000561 |
Jung H et al. Commun Biol (2024)
 Impedance of arm (right) Abnormality of the skeletal system 1,059,939
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004383/ScoringFiles/PGS004383.txt.gz
PGS004384
(X23110.score)
 PGP000561 |
Jung H et al. Commun Biol (2024)
 Impedance of arm (left) Abnormality of the skeletal system 1,059,939
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004384/ScoringFiles/PGS004384.txt.gz
PGS004487
(disease.M54.score)
 PGP000561 |
Jung H et al. Commun Biol (2024)
 M54 (Dorsalgia) Back pain 1,059,939
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004487/ScoringFiles/PGS004487.txt.gz
PGS004557
(meta.M54.score)
 PGP000561 |
Jung H et al. Commun Biol (2024)
 M54 (Dorsalgia) Back pain 1,059,939
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004557/ScoringFiles/PGS004557.txt.gz
PGS004926
(Back_3000)
 PGP000661 |
Tsepilov YA et al. J Pers Med (2023)
 Chronic back pain Back pain 1,090,574
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004926/ScoringFiles/PGS004926.txt.gz
PGS019702
(TPMI_724_Lassosum2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Other and unspecified disorders of back Abnormality of the vertebral column 113,785
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019702/ScoringFiles/PGS019702.txt.gz
PGS019703
(TPMI_724_LDpred2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Other and unspecified disorders of back Abnormality of the vertebral column 939,846
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019703/ScoringFiles/PGS019703.txt.gz
PGS019704
(TPMI_724_MegaPRS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Other and unspecified disorders of back Abnormality of the vertebral column 22,219
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019704/ScoringFiles/PGS019704.txt.gz
PGS019705
(TPMI_724_PRS-CS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Other and unspecified disorders of back Abnormality of the vertebral column 983,790
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019705/ScoringFiles/PGS019705.txt.gz
PGS019706
(TPMI_724_SBayesR)
 PGP000835 |
Chen HH et al. Nature (2025)
 Other and unspecified disorders of back Abnormality of the vertebral column 939,653
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019706/ScoringFiles/PGS019706.txt.gz
PGS019732
(TPMI_764_Lassosum2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Sciatica Sciatica 1,817
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019732/ScoringFiles/PGS019732.txt.gz
PGS019733
(TPMI_764_LDpred2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Sciatica Sciatica 939,890
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019733/ScoringFiles/PGS019733.txt.gz
PGS019734
(TPMI_764_MegaPRS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Sciatica Sciatica 541,283
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019734/ScoringFiles/PGS019734.txt.gz
PGS019735
(TPMI_764_PRS-CS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Sciatica Sciatica 983,826
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019735/ScoringFiles/PGS019735.txt.gz
PGS019736
(TPMI_764_SBayesR)
 PGP000835 |
Chen HH et al. Nature (2025)
 Sciatica Sciatica 982,896
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019736/ScoringFiles/PGS019736.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
PPM005220 PGS001522
(GBE_HC1213)
 PSS004198|
African Ancestry|
6,497 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE psoriatic and enteropathic arthropathies — AUROC: 0.98137 [0.94929, 1.0] R²: 0.29775
Incremental AUROC (full-covars): 0.00647
PGS R2 (no covariates): 0.02434
PGS AUROC (no covariates): 0.77983 [0.65036, 0.9093]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM005221 PGS001522
(GBE_HC1213)
 PSS004199|
East Asian Ancestry|
1,704 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE psoriatic and enteropathic arthropathies — AUROC: 0.9318 [0.86946, 0.99415] R²: 0.20976
Incremental AUROC (full-covars): 0.03273
PGS R2 (no covariates): 0.06659
PGS AUROC (no covariates): 0.67274 [0.26001, 1.0]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM005222 PGS001522
(GBE_HC1213)
 PSS004200|
European Ancestry|
24,905 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE psoriatic and enteropathic arthropathies — AUROC: 0.68946 [0.62601, 0.75291] R²: 0.03139
Incremental AUROC (full-covars): 0.05789
PGS R2 (no covariates): 0.01065
PGS AUROC (no covariates): 0.60522 [0.52232, 0.68812]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM005223 PGS001522
(GBE_HC1213)
 PSS004201|
South Asian Ancestry|
7,831 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE psoriatic and enteropathic arthropathies — AUROC: 0.78586 [0.68309, 0.88863] R²: 0.08779
Incremental AUROC (full-covars): -0.01064
PGS R2 (no covariates): 0.00177
PGS AUROC (no covariates): 0.56306 [0.42254, 0.70358]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM005224 PGS001522
(GBE_HC1213)
 PSS004202|
European Ancestry|
67,425 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE psoriatic and enteropathic arthropathies — AUROC: 0.58666 [0.54165, 0.63166] R²: 0.00849
Incremental AUROC (full-covars): 0.04415
PGS R2 (no covariates): 0.00801
PGS AUROC (no covariates): 0.57558 [0.52895, 0.62221]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009901 PGS001877
(portability-PLR_716)
 PSS009354|
European Ancestry|
19,847 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Other arthropathies — — Partial Correlation (partial-r): 0.0461 [0.0322, 0.0599] sex, age, birth date, deprivation index, 16 PCs —
PPM009902 PGS001877
(portability-PLR_716)
 PSS009128|
European Ancestry|
4,104 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Other arthropathies — — Partial Correlation (partial-r): 0.0184 [-0.0122, 0.0491] sex, age, birth date, deprivation index, 16 PCs —
PPM009903 PGS001877
(portability-PLR_716)
 PSS008682|
European Ancestry|
6,617 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Other arthropathies — — Partial Correlation (partial-r): 0.045 [0.0209, 0.0691] sex, age, birth date, deprivation index, 16 PCs —
PPM009904 PGS001877
(portability-PLR_716)
 PSS008456|
Greater Middle Eastern Ancestry|
1,195 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Other arthropathies — — Partial Correlation (partial-r): 0.0341 [-0.0232, 0.0911] sex, age, birth date, deprivation index, 16 PCs —
PPM009905 PGS001877
(portability-PLR_716)
 PSS008236|
South Asian Ancestry|
6,278 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Other arthropathies — — Partial Correlation (partial-r): 0.0386 [0.0138, 0.0633] sex, age, birth date, deprivation index, 16 PCs —
PPM009906 PGS001877
(portability-PLR_716)
 PSS008015|
East Asian Ancestry|
1,805 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Other arthropathies — — Partial Correlation (partial-r): -0.0084 [-0.0547, 0.038] sex, age, birth date, deprivation index, 16 PCs —
PPM009907 PGS001877
(portability-PLR_716)
 PSS007800|
African Ancestry|
2,465 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Other arthropathies — — Partial Correlation (partial-r): -0.0304 [-0.07, 0.0092] sex, age, birth date, deprivation index, 16 PCs —
PPM009908 PGS001877
(portability-PLR_716)
 PSS008904|
African Ancestry|
3,893 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Other arthropathies — — Partial Correlation (partial-r): 0.0315 [0.0, 0.0629] sex, age, birth date, deprivation index, 16 PCs —
PPM038475 PGS001877
(portability-PLR_716)
 PSS013916|
European Ancestry|
425,240 individuals
 PGP000865 |
Bhatt IS et al. J Assoc Res Otolaryngol (2024)
|Ext.		 Reported Trait: Age-related hearing difficulty β: 0.03408 — — — —
PPM009932 PGS001881
(portability-PLR_735.3)
 PSS009358|
European Ancestry|
19,732 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Hallux valgus (Bunion) — — Partial Correlation (partial-r): 0.0379 [0.024, 0.0519] sex, age, birth date, deprivation index, 16 PCs —
PPM009933 PGS001881
(portability-PLR_735.3)
 PSS009132|
European Ancestry|
4,086 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Hallux valgus (Bunion) — — Partial Correlation (partial-r): 0.0205 [-0.0103, 0.0512] sex, age, birth date, deprivation index, 16 PCs —
PPM009934 PGS001881
(portability-PLR_735.3)
 PSS008686|
European Ancestry|
6,598 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Hallux valgus (Bunion) — — Partial Correlation (partial-r): 0.0217 [-0.0025, 0.0458] sex, age, birth date, deprivation index, 16 PCs —
PPM009935 PGS001881
(portability-PLR_735.3)
 PSS008460|
Greater Middle Eastern Ancestry|
1,186 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Hallux valgus (Bunion) — — Partial Correlation (partial-r): 0.0299 [-0.0276, 0.0872] sex, age, birth date, deprivation index, 16 PCs —
PPM009936 PGS001881
(portability-PLR_735.3)
 PSS008240|
South Asian Ancestry|
6,269 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Hallux valgus (Bunion) — — Partial Correlation (partial-r): 0.031 [0.0062, 0.0558] sex, age, birth date, deprivation index, 16 PCs —
PPM009937 PGS001881
(portability-PLR_735.3)
 PSS008018|
East Asian Ancestry|
1,803 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Hallux valgus (Bunion) — — Partial Correlation (partial-r): 0.0133 [-0.0331, 0.0597] sex, age, birth date, deprivation index, 16 PCs —
PPM009938 PGS001881
(portability-PLR_735.3)
 PSS007804|
African Ancestry|
2,457 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Hallux valgus (Bunion) — — Partial Correlation (partial-r): 0.0105 [-0.0292, 0.0502] sex, age, birth date, deprivation index, 16 PCs —
PPM009939 PGS001881
(portability-PLR_735.3)
 PSS008908|
African Ancestry|
3,900 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Hallux valgus (Bunion) — — Partial Correlation (partial-r): 0.0008 [-0.0307, 0.0323] sex, age, birth date, deprivation index, 16 PCs —
PPM011577 PGS002090
(portability-ldpred2_716)
 PSS009354|
European Ancestry|
19,847 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Other arthropathies — — Partial Correlation (partial-r): 0.0698 [0.0559, 0.0836] sex, age, birth date, deprivation index, 16 PCs —
PPM011578 PGS002090
(portability-ldpred2_716)
 PSS009128|
European Ancestry|
4,104 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Other arthropathies — — Partial Correlation (partial-r): 0.0524 [0.0217, 0.0829] sex, age, birth date, deprivation index, 16 PCs —
PPM011579 PGS002090
(portability-ldpred2_716)
 PSS008682|
European Ancestry|
6,617 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Other arthropathies — — Partial Correlation (partial-r): 0.0702 [0.0462, 0.0942] sex, age, birth date, deprivation index, 16 PCs —
PPM011580 PGS002090
(portability-ldpred2_716)
 PSS008456|
Greater Middle Eastern Ancestry|
1,195 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Other arthropathies — — Partial Correlation (partial-r): 0.0373 [-0.0199, 0.0943] sex, age, birth date, deprivation index, 16 PCs —
PPM011582 PGS002090
(portability-ldpred2_716)
 PSS008015|
East Asian Ancestry|
1,805 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Other arthropathies — — Partial Correlation (partial-r): -0.0166 [-0.0629, 0.0298] sex, age, birth date, deprivation index, 16 PCs —
PPM011583 PGS002090
(portability-ldpred2_716)
 PSS007800|
African Ancestry|
2,465 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Other arthropathies — — Partial Correlation (partial-r): 0.0175 [-0.0221, 0.0571] sex, age, birth date, deprivation index, 16 PCs —
PPM011584 PGS002090
(portability-ldpred2_716)
 PSS008904|
African Ancestry|
3,893 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Other arthropathies — — Partial Correlation (partial-r): 0.0202 [-0.0113, 0.0517] sex, age, birth date, deprivation index, 16 PCs —
PPM011581 PGS002090
(portability-ldpred2_716)
 PSS008236|
South Asian Ancestry|
6,278 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Other arthropathies — — Partial Correlation (partial-r): 0.0588 [0.0341, 0.0834] sex, age, birth date, deprivation index, 16 PCs —
PPM038391 PGS002090
(portability-ldpred2_716)
 PSS013916|
European Ancestry|
425,240 individuals
 PGP000865 |
Bhatt IS et al. J Assoc Res Otolaryngol (2024)
|Ext.		 Reported Trait: Age-related hearing difficulty β: 0.05261 — — — —
PPM011600 PGS002093
(portability-ldpred2_735.3)
 PSS009358|
European Ancestry|
19,732 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Hallux valgus (Bunion) — — Partial Correlation (partial-r): 0.0506 [0.0367, 0.0645] sex, age, birth date, deprivation index, 16 PCs —
PPM011601 PGS002093
(portability-ldpred2_735.3)
 PSS009132|
European Ancestry|
4,086 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Hallux valgus (Bunion) — — Partial Correlation (partial-r): 0.0316 sex, age, birth date, deprivation index, 16 PCs —
PPM011602 PGS002093
(portability-ldpred2_735.3)
 PSS008686|
European Ancestry|
6,598 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Hallux valgus (Bunion) — — Partial Correlation (partial-r): 0.031 [0.0069, 0.0551] sex, age, birth date, deprivation index, 16 PCs —
PPM011603 PGS002093
(portability-ldpred2_735.3)
 PSS008460|
Greater Middle Eastern Ancestry|
1,186 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Hallux valgus (Bunion) — — Partial Correlation (partial-r): 0.0429 [-0.0146, 0.1] sex, age, birth date, deprivation index, 16 PCs —
PPM011604 PGS002093
(portability-ldpred2_735.3)
 PSS008240|
South Asian Ancestry|
6,269 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Hallux valgus (Bunion) — — Partial Correlation (partial-r): 0.0363 [0.0115, 0.0611] sex, age, birth date, deprivation index, 16 PCs —
PPM011605 PGS002093
(portability-ldpred2_735.3)
 PSS008018|
East Asian Ancestry|
1,803 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Hallux valgus (Bunion) — — Partial Correlation (partial-r): 0.0193 [-0.0271, 0.0657] sex, age, birth date, deprivation index, 16 PCs —
PPM011606 PGS002093
(portability-ldpred2_735.3)
 PSS007804|
African Ancestry|
2,457 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Hallux valgus (Bunion) — — Partial Correlation (partial-r): -0.0044 [-0.0441, 0.0353] sex, age, birth date, deprivation index, 16 PCs —
PPM011607 PGS002093
(portability-ldpred2_735.3)
 PSS008908|
African Ancestry|
3,900 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Hallux valgus (Bunion) — — Partial Correlation (partial-r): 0.0246 [-0.0068, 0.056] sex, age, birth date, deprivation index, 16 PCs —
PPM020495 PGS004380
(X23106.score)
 PSS011364|
European Ancestry|
56,192 individuals
 PGP000561 |
Jung H et al. Commun Biol (2024)
 Reported Trait: Impedance of whole body — — PGS R2 (no covariates): 0.23545 — —
PPM020496 PGS004381
(X23107.score)
 PSS011364|
European Ancestry|
56,192 individuals
 PGP000561 |
Jung H et al. Commun Biol (2024)
 Reported Trait: Impedance of leg (right) — — PGS R2 (no covariates): 0.26836 — —
PPM020497 PGS004382
(X23108.score)
 PSS011364|
European Ancestry|
56,192 individuals
 PGP000561 |
Jung H et al. Commun Biol (2024)
 Reported Trait: Impedance of leg (left) — — PGS R2 (no covariates): 0.27067 — —
PPM020498 PGS004383
(X23109.score)
 PSS011364|
European Ancestry|
56,192 individuals
 PGP000561 |
Jung H et al. Commun Biol (2024)
 Reported Trait: Impedance of arm (right) — — PGS R2 (no covariates): 0.20242 — —
PPM020499 PGS004384
(X23110.score)
 PSS011364|
European Ancestry|
56,192 individuals
 PGP000561 |
Jung H et al. Commun Biol (2024)
 Reported Trait: Impedance of arm (left) — — PGS R2 (no covariates): 0.20385 — —
PPM020602 PGS004487
(disease.M54.score)
 PSS011364|
European Ancestry|
56,192 individuals
 PGP000561 |
Jung H et al. Commun Biol (2024)
 Reported Trait: M54 (Dorsalgia) OR: 1.17423 — — — —
PPM020672 PGS004557
(meta.M54.score)
 PSS011364|
European Ancestry|
56,192 individuals
 PGP000561 |
Jung H et al. Commun Biol (2024)
 Reported Trait: M54 (Dorsalgia) OR: 1.26491 — — — —
PPM021708 PGS004926
(Back_3000)
 PSS011757|
European Ancestry|
120,217 individuals
 PGP000661 |
Tsepilov YA et al. J Pers Med (2023)
 Reported Trait: Chronic back pain OR: 1.24 [1.22, 1.26] AUROC: 0.56 [0.557, 0.565] — — —
PPM021709 PGS004926
(Back_3000)
 PSS011756|
European Ancestry|
2,654 individuals
 PGP000661 |
Tsepilov YA et al. J Pers Med (2023)
 Reported Trait: Lower back pain — AUROC: 0.58 [0.58, 0.59] — Age, sex —
PPM021710 PGS004926
(Back_3000)
 PSS011756|
European Ancestry|
2,654 individuals
 PGP000661 |
Tsepilov YA et al. J Pers Med (2023)
 Reported Trait: Lower back pain OR: 1.21 [1.11, 1.32] — — — —
PPM037884 PGS019702
(TPMI_724_Lassosum2)
 PSS013605|
East Asian Ancestry|
16,725 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Other and unspecified disorders of back — AUROC: 0.59673 R²: 0.04235 sex, age, array, PCs 1-10 —
PPM037885 PGS019703
(TPMI_724_LDpred2)
 PSS013604|
East Asian Ancestry|
16,725 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Other and unspecified disorders of back — AUROC: 0.5986 R²: 0.04356 sex, age, array, PCs 1-10 —
PPM037886 PGS019704
(TPMI_724_MegaPRS)
 PSS013606|
East Asian Ancestry|
16,725 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Other and unspecified disorders of back — AUROC: 0.59633 R²: 0.04219 sex, age, array, PCs 1-10 —
PPM037887 PGS019705
(TPMI_724_PRS-CS)
 PSS013607|
East Asian Ancestry|
16,725 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Other and unspecified disorders of back — AUROC: 0.59804 R²: 0.04312 sex, age, array, PCs 1-10 —
PPM037888 PGS019706
(TPMI_724_SBayesR)
 PSS013608|
East Asian Ancestry|
16,725 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Other and unspecified disorders of back — AUROC: 0.59653 R²: 0.04231 sex, age, array, PCs 1-10 —
PPM037914 PGS019732
(TPMI_764_Lassosum2)
 PSS013635|
East Asian Ancestry|
19,032 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Sciatica — AUROC: 0.61558 R²: 0.01179 sex, age, array, PCs 1-10 —
PPM037915 PGS019733
(TPMI_764_LDpred2)
 PSS013634|
East Asian Ancestry|
19,032 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Sciatica — AUROC: 0.61817 R²: 0.01229 sex, age, array, PCs 1-10 —
PPM037916 PGS019734
(TPMI_764_MegaPRS)
 PSS013636|
East Asian Ancestry|
19,032 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Sciatica — AUROC: 0.6181 R²: 0.01218 sex, age, array, PCs 1-10 —
PPM037917 PGS019735
(TPMI_764_PRS-CS)
 PSS013637|
East Asian Ancestry|
19,032 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Sciatica — AUROC: 0.61932 R²: 0.01236 sex, age, array, PCs 1-10 —
PPM037918 PGS019736
(TPMI_764_SBayesR)
 PSS013638|
East Asian Ancestry|
19,032 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Sciatica — AUROC: 0.61924 R²: 0.01226 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
PSS008904 — — 3,893 individuals — African unspecified Nigeria (West Africa) UKB —
PSS008908 — — 3,900 individuals — African unspecified Nigeria (West Africa) UKB —
PSS008015 — — 1,805 individuals — East Asian China (East Asia) UKB —
PSS008018 — — 1,803 individuals — East Asian China (East Asia) UKB —
PSS008682 — — 6,617 individuals — European Italy (South Europe) UKB —
PSS013604 724,M40.3, M43.20, M43.21, M43.22, M43.23, M43.24, M43.25, M43.26, M43.27, M43.28, M43.8, M48.8, M54.03, M54.04, M54.05, M54.06, M54.07, M54.08, M54.09, M62.830, M99.6 —
[
  • 1,398 cases
  • , 15,327 controls
]
,
46.68 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS013605 724,M40.3, M43.20, M43.21, M43.22, M43.23, M43.24, M43.25, M43.26, M43.27, M43.28, M43.8, M48.8, M54.03, M54.04, M54.05, M54.06, M54.07, M54.08, M54.09, M62.830, M99.6 —
[
  • 1,398 cases
  • , 15,327 controls
]
,
46.68 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS013606 724,M40.3, M43.20, M43.21, M43.22, M43.23, M43.24, M43.25, M43.26, M43.27, M43.28, M43.8, M48.8, M54.03, M54.04, M54.05, M54.06, M54.07, M54.08, M54.09, M62.830, M99.6 —
[
  • 1,398 cases
  • , 15,327 controls
]
,
46.68 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS004198 — —
[
  • 2 cases
  • , 6,495 controls
]
 — African unspecified — UKB —
PSS004199 — —
[
  • 3 cases
  • , 1,701 controls
]
 — East Asian — UKB —
PSS004200 — —
[
  • 56 cases
  • , 24,849 controls
]
 — European non-white British ancestry UKB —
PSS004201 — —
[
  • 16 cases
  • , 7,815 controls
]
 — South Asian — UKB —
PSS004202 — —
[
  • 163 cases
  • , 67,262 controls
]
 — European white British ancestry UKB Testing cohort (heldout set)
PSS008686 — — 6,598 individuals — European Italy (South Europe) UKB —
PSS013607 724,M40.3, M43.20, M43.21, M43.22, M43.23, M43.24, M43.25, M43.26, M43.27, M43.28, M43.8, M48.8, M54.03, M54.04, M54.05, M54.06, M54.07, M54.08, M54.09, M62.830, M99.6 —
[
  • 1,398 cases
  • , 15,327 controls
]
,
46.68 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS013608 724,M40.3, M43.20, M43.21, M43.22, M43.23, M43.24, M43.25, M43.26, M43.27, M43.28, M43.8, M48.8, M54.03, M54.04, M54.05, M54.06, M54.07, M54.08, M54.09, M62.830, M99.6 —
[
  • 1,398 cases
  • , 15,327 controls
]
,
46.68 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS007800 — — 2,465 individuals — African American or Afro-Caribbean Carribean UKB —
PSS007804 — — 2,457 individuals — African American or Afro-Caribbean Carribean UKB —
PSS011756 — — 2,654 individuals — European — TwinsUK Lower back pain prevalence = 28%
PSS011757 — —
[
  • 21,543 cases
  • , 98,674 controls
]
 — European — UKB Chronic back pain prevalence = 18%
PSS008456 — — 1,195 individuals — Greater Middle Eastern (Middle Eastern, North African or Persian) Iran (Middle East) UKB —
PSS013634 724.3,M54.3, M54.4 —
[
  • 254 cases
  • , 18,778 controls
]
,
46.3 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS009354 — — 19,847 individuals — European UK (+ Ireland) UKB —
PSS013635 724.3,M54.3, M54.4 —
[
  • 254 cases
  • , 18,778 controls
]
,
46.3 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS008460 — — 1,186 individuals — Greater Middle Eastern (Middle Eastern, North African or Persian) Iran (Middle East) UKB —
PSS013636 724.3,M54.3, M54.4 —
[
  • 254 cases
  • , 18,778 controls
]
,
46.3 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS009358 — — 19,732 individuals — European UK (+ Ireland) UKB —
PSS013637 724.3,M54.3, M54.4 —
[
  • 254 cases
  • , 18,778 controls
]
,
46.3 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS013638 724.3,M54.3, M54.4 —
[
  • 254 cases
  • , 18,778 controls
]
,
46.3 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS011364 — — 56,192 individuals — European — UKB —
PSS009128 — — 4,104 individuals — European Poland (NE Europe) UKB —
PSS008236 — — 6,278 individuals — South Asian India (South Asia) UKB —
PSS009132 — — 4,086 individuals — European Poland (NE Europe) UKB —
PSS008240 — — 6,269 individuals — South Asian India (South Asia) UKB —
PSS013916 — —
[
  • 111,243 cases
  • , 313,997 controls
]
,
46.21 % Male samples
 — European
(British, Irish)		 — UKB —