Trait: cervical neck region

Experimental Factor Ontology (EFO) Information
Identifier EFO_0001408
Trait category
Other trait

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)
PGS019697
(TPMI_723_Lassosum2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Other disorders of cervical region cervical neck region 148,767
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019697/ScoringFiles/PGS019697.txt.gz
PGS019698
(TPMI_723_LDpred2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Other disorders of cervical region cervical neck region 939,845
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019698/ScoringFiles/PGS019698.txt.gz
PGS019699
(TPMI_723_MegaPRS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Other disorders of cervical region cervical neck region 523,485
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019699/ScoringFiles/PGS019699.txt.gz
PGS019700
(TPMI_723_PRS-CS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Other disorders of cervical region cervical neck region 983,788
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019700/ScoringFiles/PGS019700.txt.gz
PGS019701
(TPMI_723_SBayesR)
 PGP000835 |
Chen HH et al. Nature (2025)
 Other disorders of cervical region cervical neck region 998,101
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019701/ScoringFiles/PGS019701.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
PPM037879 PGS019697
(TPMI_723_Lassosum2)
 PSS013600|
East Asian Ancestry|
15,693 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Other disorders of cervical region — AUROC: 0.62715 R²: 0.01998 sex, age, array, PCs 1-10 —
PPM037880 PGS019698
(TPMI_723_LDpred2)
 PSS013599|
East Asian Ancestry|
15,693 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Other disorders of cervical region — AUROC: 0.62727 R²: 0.02004 sex, age, array, PCs 1-10 —
PPM037881 PGS019699
(TPMI_723_MegaPRS)
 PSS013601|
East Asian Ancestry|
15,693 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Other disorders of cervical region — AUROC: 0.62244 R²: 0.01858 sex, age, array, PCs 1-10 —
PPM037882 PGS019700
(TPMI_723_PRS-CS)
 PSS013602|
East Asian Ancestry|
15,693 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Other disorders of cervical region — AUROC: 0.62776 R²: 0.01989 sex, age, array, PCs 1-10 —
PPM037883 PGS019701
(TPMI_723_SBayesR)
 PSS013603|
East Asian Ancestry|
15,693 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Other disorders of cervical region — AUROC: 0.62352 R²: 0.01852 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
PSS013599 723,M43.6, M54.00, M54.01, M54.02, M54.81 —
[
  • 366 cases
  • , 15,327 controls
]
,
47.1 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS013600 723,M43.6, M54.00, M54.01, M54.02, M54.81 —
[
  • 366 cases
  • , 15,327 controls
]
,
47.1 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS013601 723,M43.6, M54.00, M54.01, M54.02, M54.81 —
[
  • 366 cases
  • , 15,327 controls
]
,
47.1 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS013602 723,M43.6, M54.00, M54.01, M54.02, M54.81 —
[
  • 366 cases
  • , 15,327 controls
]
,
47.1 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS013603 723,M43.6, M54.00, M54.01, M54.02, M54.81 —
[
  • 366 cases
  • , 15,327 controls
]
,
47.1 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —