PGS Publication: PGP000263

Publication Information (EuropePMC)
Title Portability of 245 polygenic scores when derived from the UK Biobank and applied to 9 ancestry groups from the same cohort
PubMed ID 34995502(Europe PMC)
doi 10.1016/j.ajhg.2021.11.008
Publication Date Jan. 6, 2022
Journal Am J Hum Genet
Author(s) Privé F, Aschard H, Carmi S, Folkersen L, Hoggart C, O’Reilly PF, Vilhjálmsson BJ.
Released in PGS Catalog: Jan. 10, 2022

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

PGS Developed By This Publication

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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)
PGS001802
(portability-PLR_153)
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Colorectal cancercolorectal cancer2,821
-
D
E
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001802/ScoringFiles/PGS001802.txt.gz
PGS001803
(portability-PLR_172)
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Skin cancerskin carcinoma4,371
-
D
E
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001803/ScoringFiles/PGS001803.txt.gz
PGS001804
(portability-PLR_174.1)
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Breast cancer (female)breast carcinoma2,984
-
D
E
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001804/ScoringFiles/PGS001804.txt.gz
PGS001805
(portability-PLR_185)
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Prostate cancerprostate carcinoma2,579
-
D
E
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001805/ScoringFiles/PGS001805.txt.gz
PGS001806
(portability-PLR_187.2)
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Malignant neoplasm of testistesticular neoplasm231
-
D
E
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001806/ScoringFiles/PGS001806.txt.gz
PGS001807
(portability-PLR_189.2)
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Bladder cancerurinary bladder carcinoma291
-
D
E
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001807/ScoringFiles/PGS001807.txt.gz
PGS001808
(portability-PLR_191.11)
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Brain cancerbrain cancer117
-
D
E
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001808/ScoringFiles/PGS001808.txt.gz
PGS001809
(portability-PLR_193)
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Thyroid cancerthyroid carcinoma111
-
D
E
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001809/ScoringFiles/PGS001809.txt.gz
PGS001810
(portability-PLR_200.1)
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Polycythemia verapolycythemia vera67
-
D
E
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001810/ScoringFiles/PGS001810.txt.gz
PGS001811
(portability-PLR_208)
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Benign neoplasm of colonbenign colon neoplasm2,231
-
D
E
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001811/ScoringFiles/PGS001811.txt.gz
PGS001812
(portability-PLR_211)
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Benign neoplasm of other parts of digestive systembenign digestive system neoplasm801
-
D
E
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001812/ScoringFiles/PGS001812.txt.gz
PGS001813
(portability-PLR_218)
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Benign neoplasm of uterusuterine benign neoplasm1,308
-
D
E
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001813/ScoringFiles/PGS001813.txt.gz
PGS001814
(portability-PLR_241.2)
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Nontoxic multinodular goitermultinodular goiter,
nontoxic goiter
322
-
D
E
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001814/ScoringFiles/PGS001814.txt.gz
PGS001815
(portability-PLR_242)
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Thyrotoxicosis with or without goiterThyrotoxicosis280
-
D
E
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001815/ScoringFiles/PGS001815.txt.gz
PGS001816
(portability-PLR_244)
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Hypothyroidismhypothyroidism11,130
-
D
E
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001816/ScoringFiles/PGS001816.txt.gz
PGS001817
(portability-PLR_250.1)
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Type 1 diabetes (T1D)type 1 diabetes mellitus825
-
D
E
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001817/ScoringFiles/PGS001817.txt.gz
PGS001818
(portability-PLR_250.2)
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Type 2 diabetes (T2D)type 2 diabetes mellitus30,745
-
D
E
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001818/ScoringFiles/PGS001818.txt.gz
PGS001819
(portability-PLR_250.7)
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Diabetic retinopathydiabetic retinopathy249
-
D
E
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001819/ScoringFiles/PGS001819.txt.gz
PGS001820
(portability-PLR_251.1)
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
HypoglycemiaHypoglycemia187
-
D
E
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001820/ScoringFiles/PGS001820.txt.gz
PGS001821
(portability-PLR_272)
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Disorders of lipoid metabolismAbnormal circulating lipid concentration22,313
-
D
E
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001821/ScoringFiles/PGS001821.txt.gz
PGS001822
(portability-PLR_274.1)
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Goutgout216
-
D
E
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001822/ScoringFiles/PGS001822.txt.gz
PGS001823
(portability-PLR_275.1)
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Disorders of iron metabolismiron metabolism disease654
-
D
E
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001823/ScoringFiles/PGS001823.txt.gz
PGS001824
(portability-PLR_277.4)
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Disorders of bilirubin excretionbilirubin metabolism disease22
-
D
E
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001824/ScoringFiles/PGS001824.txt.gz
PGS001825
(portability-PLR_278)
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Overweight, obesity and other hyperalimentationobesity,
overweight body mass index status,
overnutrition
13,009
-
D
E
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001825/ScoringFiles/PGS001825.txt.gz
PGS001826
(portability-PLR_286.12)
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Congenital deficiency of other clotting factors (including factor VII)congenital vitamin K-dependent coagulation factors deficiency45
-
D
E
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001826/ScoringFiles/PGS001826.txt.gz
PGS001827
(portability-PLR_290.1)
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Dementiadementia33
-
D
E
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001827/ScoringFiles/PGS001827.txt.gz
PGS001828
(portability-PLR_290.11)
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Alzheimer's diseaseAlzheimer disease38
-
D
E
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001828/ScoringFiles/PGS001828.txt.gz
PGS001829
(portability-PLR_296.2)
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Depressiondepressive disorder7,534
-
D
E
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001829/ScoringFiles/PGS001829.txt.gz
PGS001830
(portability-PLR_318)
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Tobacco use disordernicotine dependence13,838
-
D
E
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001830/ScoringFiles/PGS001830.txt.gz
PGS001831
(portability-PLR_335)
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Multiple sclerosismultiple sclerosis491
-
D
E
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001831/ScoringFiles/PGS001831.txt.gz
PGS001832
(portability-PLR_351)
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Other peripheral nerve disordersperipheral nervous system disease8,393
-
D
E
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001832/ScoringFiles/PGS001832.txt.gz
PGS001833
(portability-PLR_361)
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Retinal detachments and defectsretinal detachment3,737
-
D
E
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001833/ScoringFiles/PGS001833.txt.gz
PGS001834
(portability-PLR_362.29)
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Macular degeneration (senile) of retina NOSage-related macular degeneration157
-
D
E
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001834/ScoringFiles/PGS001834.txt.gz
PGS001835
(portability-PLR_364.5)
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Corneal dystrophycorneal dystrophy38
-
D
E
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001835/ScoringFiles/PGS001835.txt.gz
PGS001836
(portability-PLR_365)
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Glaucomaglaucoma7,052
-
D
E
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001836/ScoringFiles/PGS001836.txt.gz
PGS001837
(portability-PLR_366)
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Cataractcataract11,617
-
D
E
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001837/ScoringFiles/PGS001837.txt.gz
PGS001838
(portability-PLR_401)
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Hypertensionhypertension52,487
-
D
E
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001838/ScoringFiles/PGS001838.txt.gz
PGS001839
(portability-PLR_411.4)
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Coronary atherosclerosiscoronary atherosclerosis25,425
-
D
E
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001839/ScoringFiles/PGS001839.txt.gz
PGS001840
(portability-PLR_415)
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Pulmonary heart diseasecor pulmonale330
-
D
E
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001840/ScoringFiles/PGS001840.txt.gz
PGS001841
(portability-PLR_427.2)
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Atrial fibrillation and flutteratrial fibrillation,
atrial flutter
3,980
-
D
E
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001841/ScoringFiles/PGS001841.txt.gz
PGS001842
(portability-PLR_428)
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Congestive heart failure; nonhypertensivecongestive heart failure2,759
-
D
E
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001842/ScoringFiles/PGS001842.txt.gz
PGS001843
(portability-PLR_443.9)
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Peripheral vascular disease, unspecifiedperipheral vascular disease242
-
D
E
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001843/ScoringFiles/PGS001843.txt.gz
PGS001844
(portability-PLR_451)
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Phlebitis and thrombophlebitisPhlebitis,
Thrombophlebitis
431
-
D
E
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001844/ScoringFiles/PGS001844.txt.gz
PGS001845
(portability-PLR_454)
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Varicose veinsVaricose veins15,748
-
D
E
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001845/ScoringFiles/PGS001845.txt.gz
PGS001846
(portability-PLR_455)
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Hemorrhoidshemorrhoid5,434
-
D
E
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001846/ScoringFiles/PGS001846.txt.gz
PGS001847
(portability-PLR_459.9)
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Circulatory disease NECvascular disease594
-
D
E
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001847/ScoringFiles/PGS001847.txt.gz
PGS001848
(portability-PLR_471)
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Nasal polypsNasal polyposis1,783
-
D
E
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001848/ScoringFiles/PGS001848.txt.gz
PGS001849
(portability-PLR_495)
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Asthmaasthma22,679
-
D
E
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001849/ScoringFiles/PGS001849.txt.gz
PGS001850
(portability-PLR_496)
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Chronic airway obstructionchronic obstructive pulmonary disease7,347
-
D
E
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001850/ScoringFiles/PGS001850.txt.gz
PGS001851
(portability-PLR_530.1)
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Esophagitis, GERD and related diseasesgastroesophageal reflux disease,
esophagitis
13,855
-
D
E
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001851/ScoringFiles/PGS001851.txt.gz
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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.

Warning: There are too many Performance Metrics to display (3380) with their evaluated samples. These data can be still be browsed on individual Score or Trait pages. Alternatively the data from this study can also be accessed by: