Trait: Abnormality of the vertebral column

Trait Information
Identifier HP_0000925
Description Any abnormality of the vertebral column.
Trait category
Other trait
Synonyms 5 synonyms
  • Abnormal spine
  • Abnormal vertebral column
  • Abnormality of the backbone
  • Abnormality of the spine
  • Abnormality of the vertebral column
Child trait(s) 2 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 vertebral column" 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)
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
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
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%
PSS013634 724.3,M54.3, M54.4 —
[
  • 254 cases
  • , 18,778 controls
]
,
46.3 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS013635 724.3,M54.3, M54.4 —
[
  • 254 cases
  • , 18,778 controls
]
,
46.3 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
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 —
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 —
PSS013636 724.3,M54.3, M54.4 —
[
  • 254 cases
  • , 18,778 controls
]
,
46.3 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
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 —