Trait: Abnormal circulating lipid concentration

Trait Information
Identifier HP_0003119
Description Any deviation from the normal concentration of a lipid in the blood circulation.
Trait category
Other trait
Synonyms 2 synonyms
  • Dyslipidaemia
  • Dyslipidemia
Mapped terms 5 mapped terms
  • NCIt:C80385
  • SNOMEDCT:370992007
  • SNOMEDCT_US:370992007
  • UMLS:C0242339
  • UMLS:C4025650
Child trait(s) Hypercholesterolemia

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 "Abnormal circulating lipid concentration" 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)
PGS000936
(GBE_HC269)
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 High cholesterol Hypercholesterolemia 5,987
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000936/ScoringFiles/PGS000936.txt.gz
PGS001821
(portability-PLR_272)
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Disorders of lipoid metabolism Abnormal circulating lipid concentration 22,313
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001821/ScoringFiles/PGS001821.txt.gz
PGS002029
(portability-ldpred2_272)
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Disorders of lipoid metabolism Abnormal circulating lipid concentration 764,390
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002029/ScoringFiles/PGS002029.txt.gz
PGS002334
(disease_HI_CHOL_SELF_REP.BOLT-LMM)
 PGP000332 |
Weissbrod O et al. Nat Genet (2022)
 High cholesterol Hypercholesterolemia 1,109,311
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002334/ScoringFiles/PGS002334.txt.gz
PGS002406
(disease_HI_CHOL_SELF_REP.P+T.0.0001)
 PGP000332 |
Weissbrod O et al. Nat Genet (2022)
 High cholesterol Hypercholesterolemia 3,246
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002406/ScoringFiles/PGS002406.txt.gz
PGS002455
(disease_HI_CHOL_SELF_REP.P+T.0.001)
 PGP000332 |
Weissbrod O et al. Nat Genet (2022)
 High cholesterol Hypercholesterolemia 13,788
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002455/ScoringFiles/PGS002455.txt.gz
PGS002504
(disease_HI_CHOL_SELF_REP.P+T.0.01)
 PGP000332 |
Weissbrod O et al. Nat Genet (2022)
 High cholesterol Hypercholesterolemia 90,341
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002504/ScoringFiles/PGS002504.txt.gz
PGS002553
(disease_HI_CHOL_SELF_REP.P+T.1e-06)
 PGP000332 |
Weissbrod O et al. Nat Genet (2022)
 High cholesterol Hypercholesterolemia 810
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002553/ScoringFiles/PGS002553.txt.gz
PGS002602
(disease_HI_CHOL_SELF_REP.P+T.5e-08)
 PGP000332 |
Weissbrod O et al. Nat Genet (2022)
 High cholesterol Hypercholesterolemia 545
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002602/ScoringFiles/PGS002602.txt.gz
PGS002651
(disease_HI_CHOL_SELF_REP.PolyFun-pred)
 PGP000332 |
Weissbrod O et al. Nat Genet (2022)
 High cholesterol Hypercholesterolemia 195,463
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002651/ScoringFiles/PGS002651.txt.gz
PGS002700
(disease_HI_CHOL_SELF_REP.SBayesR)
 PGP000332 |
Weissbrod O et al. Nat Genet (2022)
 High cholesterol Hypercholesterolemia 937,601
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002700/ScoringFiles/PGS002700.txt.gz
PGS002764
(LDL_prscs)
 PGP000364 |
Mars N et al. Am J Hum Genet (2022)
 Hypercholesterolemia Hypercholesterolemia 1,091,280
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002764/ScoringFiles/PGS002764.txt.gz
PGS004783
(HLD_PRSmix_eur)
 PGP000604 |
Truong B et al. Cell Genom (2024)
 Hypercholesterolemia Hypercholesterolemia 975,107
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004783/ScoringFiles/PGS004783.txt.gz
PGS004784
(HLD_PRSmixPlus_eur)
 PGP000604 |
Truong B et al. Cell Genom (2024)
 Hypercholesterolemia Hypercholesterolemia 3,948,507
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004784/ScoringFiles/PGS004784.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
PPM007507 PGS000936
(GBE_HC269)
 PSS004394|
African Ancestry|
6,497 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: High cholesterol — AUROC: 0.71982 [0.7005, 0.73913] R²: 0.11508
Incremental AUROC (full-covars): 0.00533
PGS R2 (no covariates): 0.00875
PGS AUROC (no covariates): 0.55909 [0.53701, 0.58116]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007508 PGS000936
(GBE_HC269)
 PSS004395|
East Asian Ancestry|
1,704 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: High cholesterol — AUROC: 0.72115 [0.67901, 0.76329] R²: 0.11225
Incremental AUROC (full-covars): 0.01895
PGS R2 (no covariates): 0.01737
PGS AUROC (no covariates): 0.58299 [0.53527, 0.6307]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007509 PGS000936
(GBE_HC269)
 PSS004396|
European Ancestry|
24,905 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: High cholesterol — AUROC: 0.73677 [0.72785, 0.7457] R²: 0.1386
Incremental AUROC (full-covars): 0.03212
PGS R2 (no covariates): 0.03624
PGS AUROC (no covariates): 0.62158 [0.61091, 0.63225]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007510 PGS000936
(GBE_HC269)
 PSS004397|
South Asian Ancestry|
7,831 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: High cholesterol — AUROC: 0.68493 [0.67098, 0.69888] R²: 0.10135
Incremental AUROC (full-covars): 0.01608
PGS R2 (no covariates): 0.01913
PGS AUROC (no covariates): 0.57791 [0.56213, 0.5937]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007511 PGS000936
(GBE_HC269)
 PSS004398|
European Ancestry|
67,425 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: High cholesterol — AUROC: 0.72791 [0.72273, 0.73309] R²: 0.13664
Incremental AUROC (full-covars): 0.03518
PGS R2 (no covariates): 0.03794
PGS AUROC (no covariates): 0.61972 [0.6136, 0.62583]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009468 PGS001821
(portability-PLR_272)
 PSS009291|
European Ancestry|
20,000 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Disorders of lipoid metabolism — — Partial Correlation (partial-r): 0.097 [0.0833, 0.1107] sex, age, birth date, deprivation index, 16 PCs —
PPM009469 PGS001821
(portability-PLR_272)
 PSS009065|
European Ancestry|
4,136 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Disorders of lipoid metabolism — — Partial Correlation (partial-r): 0.0977 [0.0674, 0.1279] sex, age, birth date, deprivation index, 16 PCs —
PPM009470 PGS001821
(portability-PLR_272)
 PSS008619|
European Ancestry|
6,660 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Disorders of lipoid metabolism — — Partial Correlation (partial-r): 0.0945 [0.0706, 0.1183] sex, age, birth date, deprivation index, 16 PCs —
PPM009471 PGS001821
(portability-PLR_272)
 PSS008395|
Greater Middle Eastern Ancestry|
1,200 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Disorders of lipoid metabolism — — Partial Correlation (partial-r): 0.0789 [0.022, 0.1354] sex, age, birth date, deprivation index, 16 PCs —
PPM009472 PGS001821
(portability-PLR_272)
 PSS008173|
South Asian Ancestry|
6,331 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Disorders of lipoid metabolism — — Partial Correlation (partial-r): 0.0889 [0.0644, 0.1134] sex, age, birth date, deprivation index, 16 PCs —
PPM009473 PGS001821
(portability-PLR_272)
 PSS007960|
East Asian Ancestry|
1,810 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Disorders of lipoid metabolism — — Partial Correlation (partial-r): 0.0321 [-0.0143, 0.0783] sex, age, birth date, deprivation index, 16 PCs —
PPM009475 PGS001821
(portability-PLR_272)
 PSS008844|
African Ancestry|
3,924 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Disorders of lipoid metabolism — — Partial Correlation (partial-r): 0.0363 [0.0049, 0.0676] sex, age, birth date, deprivation index, 16 PCs —
PPM009474 PGS001821
(portability-PLR_272)
 PSS007741|
African Ancestry|
2,484 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Disorders of lipoid metabolism — — Partial Correlation (partial-r): 0.068 [0.0286, 0.1072] sex, age, birth date, deprivation index, 16 PCs —
PPM011106 PGS002029
(portability-ldpred2_272)
 PSS009291|
European Ancestry|
20,000 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Disorders of lipoid metabolism — — Partial Correlation (partial-r): 0.0996 [0.0858, 0.1133] sex, age, birth date, deprivation index, 16 PCs —
PPM011108 PGS002029
(portability-ldpred2_272)
 PSS008619|
European Ancestry|
6,660 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Disorders of lipoid metabolism — — Partial Correlation (partial-r): 0.0952 [0.0713, 0.119] sex, age, birth date, deprivation index, 16 PCs —
PPM011109 PGS002029
(portability-ldpred2_272)
 PSS008395|
Greater Middle Eastern Ancestry|
1,200 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Disorders of lipoid metabolism — — Partial Correlation (partial-r): 0.0977 [0.0409, 0.1539] sex, age, birth date, deprivation index, 16 PCs —
PPM011110 PGS002029
(portability-ldpred2_272)
 PSS008173|
South Asian Ancestry|
6,331 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Disorders of lipoid metabolism — — Partial Correlation (partial-r): 0.0926 [0.0681, 0.117] sex, age, birth date, deprivation index, 16 PCs —
PPM011111 PGS002029
(portability-ldpred2_272)
 PSS007960|
East Asian Ancestry|
1,810 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Disorders of lipoid metabolism — — Partial Correlation (partial-r): 0.0539 [0.0075, 0.0999] sex, age, birth date, deprivation index, 16 PCs —
PPM011113 PGS002029
(portability-ldpred2_272)
 PSS008844|
African Ancestry|
3,924 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Disorders of lipoid metabolism — — Partial Correlation (partial-r): 0.05 [0.0186, 0.0812] sex, age, birth date, deprivation index, 16 PCs —
PPM011107 PGS002029
(portability-ldpred2_272)
 PSS009065|
European Ancestry|
4,136 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Disorders of lipoid metabolism — — Partial Correlation (partial-r): 0.1035 [0.0732, 0.1337] sex, age, birth date, deprivation index, 16 PCs —
PPM011112 PGS002029
(portability-ldpred2_272)
 PSS007741|
African Ancestry|
2,484 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Disorders of lipoid metabolism — — Partial Correlation (partial-r): 0.0769 [0.0375, 0.116] sex, age, birth date, deprivation index, 16 PCs —
PPM013099 PGS002334
(disease_HI_CHOL_SELF_REP.BOLT-LMM)
 PSS009779|
African Ancestry|
6,503 individuals
 PGP000332 |
Weissbrod O et al. Nat Genet (2022)
 Reported Trait: High cholesterol — — Incremental R2 (full model vs. covariates alone): 0.0063 age, sex, age*sex, assessment center, genotyping array, 10 PCs —
PPM013148 PGS002334
(disease_HI_CHOL_SELF_REP.BOLT-LMM)
 PSS009780|
East Asian Ancestry|
922 individuals
 PGP000332 |
Weissbrod O et al. Nat Genet (2022)
 Reported Trait: High cholesterol — — Incremental R2 (full model vs. covariates alone): 0.0085 age, sex, age*sex, assessment center, genotyping array, 10 PCs —
PPM013197 PGS002334
(disease_HI_CHOL_SELF_REP.BOLT-LMM)
 PSS009781|
European Ancestry|
43,505 individuals
 PGP000332 |
Weissbrod O et al. Nat Genet (2022)
 Reported Trait: High cholesterol — — Incremental R2 (full model vs. covariates alone): 0.0225 age, sex, age*sex, assessment center, genotyping array, 10 PCs —
PPM013246 PGS002334
(disease_HI_CHOL_SELF_REP.BOLT-LMM)
 PSS009782|
South Asian Ancestry|
8,098 individuals
 PGP000332 |
Weissbrod O et al. Nat Genet (2022)
 Reported Trait: High cholesterol — — Incremental R2 (full model vs. covariates alone): 0.0171 age, sex, age*sex, assessment center, genotyping array, 10 PCs —
PPM013387 PGS002406
(disease_HI_CHOL_SELF_REP.P+T.0.0001)
 PSS009779|
African Ancestry|
6,503 individuals
 PGP000332 |
Weissbrod O et al. Nat Genet (2022)
 Reported Trait: High cholesterol — — Incremental R2 (full model vs. covariates alone): 0.0001 age, sex, age*sex, assessment center, genotyping array, 10 PCs —
PPM013436 PGS002406
(disease_HI_CHOL_SELF_REP.P+T.0.0001)
 PSS009780|
East Asian Ancestry|
922 individuals
 PGP000332 |
Weissbrod O et al. Nat Genet (2022)
 Reported Trait: High cholesterol — — Incremental R2 (full model vs. covariates alone): 0.0058 age, sex, age*sex, assessment center, genotyping array, 10 PCs —
PPM013485 PGS002406
(disease_HI_CHOL_SELF_REP.P+T.0.0001)
 PSS009781|
European Ancestry|
43,505 individuals
 PGP000332 |
Weissbrod O et al. Nat Genet (2022)
 Reported Trait: High cholesterol — — Incremental R2 (full model vs. covariates alone): 0.0033 age, sex, age*sex, assessment center, genotyping array, 10 PCs —
PPM013534 PGS002406
(disease_HI_CHOL_SELF_REP.P+T.0.0001)
 PSS009782|
South Asian Ancestry|
8,098 individuals
 PGP000332 |
Weissbrod O et al. Nat Genet (2022)
 Reported Trait: High cholesterol — — Incremental R2 (full model vs. covariates alone): 0.005 age, sex, age*sex, assessment center, genotyping array, 10 PCs —
PPM013583 PGS002455
(disease_HI_CHOL_SELF_REP.P+T.0.001)
 PSS009779|
African Ancestry|
6,503 individuals
 PGP000332 |
Weissbrod O et al. Nat Genet (2022)
 Reported Trait: High cholesterol — — Incremental R2 (full model vs. covariates alone): 0.0 age, sex, age*sex, assessment center, genotyping array, 10 PCs —
PPM013632 PGS002455
(disease_HI_CHOL_SELF_REP.P+T.0.001)
 PSS009780|
East Asian Ancestry|
922 individuals
 PGP000332 |
Weissbrod O et al. Nat Genet (2022)
 Reported Trait: High cholesterol — — Incremental R2 (full model vs. covariates alone): 0.0026 age, sex, age*sex, assessment center, genotyping array, 10 PCs —
PPM013681 PGS002455
(disease_HI_CHOL_SELF_REP.P+T.0.001)
 PSS009781|
European Ancestry|
43,505 individuals
 PGP000332 |
Weissbrod O et al. Nat Genet (2022)
 Reported Trait: High cholesterol — — Incremental R2 (full model vs. covariates alone): 0.0032 age, sex, age*sex, assessment center, genotyping array, 10 PCs —
PPM013730 PGS002455
(disease_HI_CHOL_SELF_REP.P+T.0.001)
 PSS009782|
South Asian Ancestry|
8,098 individuals
 PGP000332 |
Weissbrod O et al. Nat Genet (2022)
 Reported Trait: High cholesterol — — Incremental R2 (full model vs. covariates alone): 0.0023 age, sex, age*sex, assessment center, genotyping array, 10 PCs —
PPM013828 PGS002504
(disease_HI_CHOL_SELF_REP.P+T.0.01)
 PSS009780|
East Asian Ancestry|
922 individuals
 PGP000332 |
Weissbrod O et al. Nat Genet (2022)
 Reported Trait: High cholesterol — — Incremental R2 (full model vs. covariates alone): 0.0008 age, sex, age*sex, assessment center, genotyping array, 10 PCs —
PPM013779 PGS002504
(disease_HI_CHOL_SELF_REP.P+T.0.01)
 PSS009779|
African Ancestry|
6,503 individuals
 PGP000332 |
Weissbrod O et al. Nat Genet (2022)
 Reported Trait: High cholesterol — — Incremental R2 (full model vs. covariates alone): 0.0 age, sex, age*sex, assessment center, genotyping array, 10 PCs —
PPM013877 PGS002504
(disease_HI_CHOL_SELF_REP.P+T.0.01)
 PSS009781|
European Ancestry|
43,505 individuals
 PGP000332 |
Weissbrod O et al. Nat Genet (2022)
 Reported Trait: High cholesterol — — Incremental R2 (full model vs. covariates alone): 0.0015 age, sex, age*sex, assessment center, genotyping array, 10 PCs —
PPM013926 PGS002504
(disease_HI_CHOL_SELF_REP.P+T.0.01)
 PSS009782|
South Asian Ancestry|
8,098 individuals
 PGP000332 |
Weissbrod O et al. Nat Genet (2022)
 Reported Trait: High cholesterol — — Incremental R2 (full model vs. covariates alone): 0.0006 age, sex, age*sex, assessment center, genotyping array, 10 PCs —
PPM013975 PGS002553
(disease_HI_CHOL_SELF_REP.P+T.1e-06)
 PSS009779|
African Ancestry|
6,503 individuals
 PGP000332 |
Weissbrod O et al. Nat Genet (2022)
 Reported Trait: High cholesterol — — Incremental R2 (full model vs. covariates alone): 0.0002 age, sex, age*sex, assessment center, genotyping array, 10 PCs —
PPM014024 PGS002553
(disease_HI_CHOL_SELF_REP.P+T.1e-06)
 PSS009780|
East Asian Ancestry|
922 individuals
 PGP000332 |
Weissbrod O et al. Nat Genet (2022)
 Reported Trait: High cholesterol — — Incremental R2 (full model vs. covariates alone): 0.0003 age, sex, age*sex, assessment center, genotyping array, 10 PCs —
PPM014073 PGS002553
(disease_HI_CHOL_SELF_REP.P+T.1e-06)
 PSS009781|
European Ancestry|
43,505 individuals
 PGP000332 |
Weissbrod O et al. Nat Genet (2022)
 Reported Trait: High cholesterol — — Incremental R2 (full model vs. covariates alone): 0.0118 age, sex, age*sex, assessment center, genotyping array, 10 PCs —
PPM014122 PGS002553
(disease_HI_CHOL_SELF_REP.P+T.1e-06)
 PSS009782|
South Asian Ancestry|
8,098 individuals
 PGP000332 |
Weissbrod O et al. Nat Genet (2022)
 Reported Trait: High cholesterol — — Incremental R2 (full model vs. covariates alone): 0.0079 age, sex, age*sex, assessment center, genotyping array, 10 PCs —
PPM014171 PGS002602
(disease_HI_CHOL_SELF_REP.P+T.5e-08)
 PSS009779|
African Ancestry|
6,503 individuals
 PGP000332 |
Weissbrod O et al. Nat Genet (2022)
 Reported Trait: High cholesterol — — Incremental R2 (full model vs. covariates alone): 0.0018 age, sex, age*sex, assessment center, genotyping array, 10 PCs —
PPM014220 PGS002602
(disease_HI_CHOL_SELF_REP.P+T.5e-08)
 PSS009780|
East Asian Ancestry|
922 individuals
 PGP000332 |
Weissbrod O et al. Nat Genet (2022)
 Reported Trait: High cholesterol — — Incremental R2 (full model vs. covariates alone): 0.0003 age, sex, age*sex, assessment center, genotyping array, 10 PCs —
PPM014269 PGS002602
(disease_HI_CHOL_SELF_REP.P+T.5e-08)
 PSS009781|
European Ancestry|
43,505 individuals
 PGP000332 |
Weissbrod O et al. Nat Genet (2022)
 Reported Trait: High cholesterol — — Incremental R2 (full model vs. covariates alone): 0.0115 age, sex, age*sex, assessment center, genotyping array, 10 PCs —
PPM014318 PGS002602
(disease_HI_CHOL_SELF_REP.P+T.5e-08)
 PSS009782|
South Asian Ancestry|
8,098 individuals
 PGP000332 |
Weissbrod O et al. Nat Genet (2022)
 Reported Trait: High cholesterol — — Incremental R2 (full model vs. covariates alone): 0.0079 age, sex, age*sex, assessment center, genotyping array, 10 PCs —
PPM014465 PGS002651
(disease_HI_CHOL_SELF_REP.PolyFun-pred)
 PSS009781|
European Ancestry|
43,505 individuals
 PGP000332 |
Weissbrod O et al. Nat Genet (2022)
 Reported Trait: High cholesterol — — Incremental R2 (full model when combined with BOLT-LMM vs. covariates alone): 0.0213 age, sex, age*sex, assessment center, genotyping array, 10 PCs See disease_HI_CHOL_SELF_REP.mixweights file at http://data.broadinstitute.org/alkesgroup/polypred_results for combination weights
PPM014367 PGS002651
(disease_HI_CHOL_SELF_REP.PolyFun-pred)
 PSS009779|
African Ancestry|
6,503 individuals
 PGP000332 |
Weissbrod O et al. Nat Genet (2022)
 Reported Trait: High cholesterol — — Incremental R2 (full model when combined with BOLT-LMM vs. covariates alone): 0.0077 age, sex, age*sex, assessment center, genotyping array, 10 PCs See disease_HI_CHOL_SELF_REP.mixweights file at http://data.broadinstitute.org/alkesgroup/polypred_results for combination weights
PPM014416 PGS002651
(disease_HI_CHOL_SELF_REP.PolyFun-pred)
 PSS009780|
East Asian Ancestry|
922 individuals
 PGP000332 |
Weissbrod O et al. Nat Genet (2022)
 Reported Trait: High cholesterol — — Incremental R2 (full model when combined with BOLT-LMM vs. covariates alone): 0.0103 age, sex, age*sex, assessment center, genotyping array, 10 PCs See disease_HI_CHOL_SELF_REP.mixweights file at http://data.broadinstitute.org/alkesgroup/polypred_results for combination weights
PPM014514 PGS002651
(disease_HI_CHOL_SELF_REP.PolyFun-pred)
 PSS009782|
South Asian Ancestry|
8,098 individuals
 PGP000332 |
Weissbrod O et al. Nat Genet (2022)
 Reported Trait: High cholesterol — — Incremental R2 (full model when combined with BOLT-LMM vs. covariates alone): 0.0193 age, sex, age*sex, assessment center, genotyping array, 10 PCs See disease_HI_CHOL_SELF_REP.mixweights file at http://data.broadinstitute.org/alkesgroup/polypred_results for combination weights
PPM014563 PGS002700
(disease_HI_CHOL_SELF_REP.SBayesR)
 PSS009779|
African Ancestry|
6,503 individuals
 PGP000332 |
Weissbrod O et al. Nat Genet (2022)
 Reported Trait: High cholesterol — — Incremental R2 (full model vs. covariates alone): 0.0085 age, sex, age*sex, assessment center, genotyping array, 10 PCs —
PPM014612 PGS002700
(disease_HI_CHOL_SELF_REP.SBayesR)
 PSS009780|
East Asian Ancestry|
922 individuals
 PGP000332 |
Weissbrod O et al. Nat Genet (2022)
 Reported Trait: High cholesterol — — Incremental R2 (full model vs. covariates alone): 0.0065 age, sex, age*sex, assessment center, genotyping array, 10 PCs —
PPM014661 PGS002700
(disease_HI_CHOL_SELF_REP.SBayesR)
 PSS009781|
European Ancestry|
43,505 individuals
 PGP000332 |
Weissbrod O et al. Nat Genet (2022)
 Reported Trait: High cholesterol — — Incremental R2 (full model vs. covariates alone): 0.0213 age, sex, age*sex, assessment center, genotyping array, 10 PCs —
PPM014710 PGS002700
(disease_HI_CHOL_SELF_REP.SBayesR)
 PSS009782|
South Asian Ancestry|
8,098 individuals
 PGP000332 |
Weissbrod O et al. Nat Genet (2022)
 Reported Trait: High cholesterol — — Incremental R2 (full model vs. covariates alone): 0.0183 age, sex, age*sex, assessment center, genotyping array, 10 PCs —
PPM014964 PGS002764
(LDL_prscs)
 PSS009939|
European Ancestry|
39,444 individuals
 PGP000364 |
Mars N et al. Am J Hum Genet (2022)
 Reported Trait: Hypercholesterolemia OR: 1.72 [1.67, 1.77] — — age, sex, 10 PCs, technical covariates —
PPM021008 PGS004783
(HLD_PRSmix_eur)
 PSS011465|
European Ancestry|
9,462 individuals
 PGP000604 |
Truong B et al. Cell Genom (2024)
 Reported Trait: Hypercholesterolemia — — Incremental R2 (Full model versus model with only covariates): 0.041 [0.034, 0.049] age, sex, PC1, PC2, PC3, PC4, PC5, PC6, PC7, PC8, PC9, PC10 Incremental R2 (Full model versus model with only covariates)
PPM021009 PGS004784
(HLD_PRSmixPlus_eur)
 PSS011465|
European Ancestry|
9,462 individuals
 PGP000604 |
Truong B et al. Cell Genom (2024)
 Reported Trait: Hypercholesterolemia — — Incremental R2 (Full model versus model with only covariates): 0.052 [0.043, 0.061] age, sex, PC1, PC2, PC3, PC4, PC5, PC6, PC7, PC8, PC9, PC10 Incremental R2 (Full model versus model with only covariates)

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
PSS009291 — — 20,000 individuals — European UK (+ Ireland) UKB —
PSS008395 — — 1,200 individuals — Greater Middle Eastern (Middle Eastern, North African or Persian) Iran (Middle East) UKB —
PSS011465 — — 9,462 individuals — European — AllofUs —
PSS009065 — — 4,136 individuals — European Poland (NE Europe) UKB —
PSS009779 — — 6,503 individuals — African unspecified — UKB —
PSS009780 — — 922 individuals — East Asian — UKB —
PSS008173 — — 6,331 individuals — South Asian India (South Asia) UKB —
PSS009781 — — 43,505 individuals — European Non-British European UKB —
PSS009782 — — 8,098 individuals — South Asian — UKB —
PSS008844 — — 3,924 individuals — African unspecified Nigeria (West Africa) UKB —
PSS007960 — — 1,810 individuals — East Asian China (East Asia) UKB —
PSS009939 — — 39,444 individuals — European
(Finnish)		 — FinnGen —
PSS008619 — — 6,660 individuals — European Italy (South Europe) UKB —
PSS004394 — —
[
  • 718 cases
  • , 5,779 controls
]
 — African unspecified — UKB —
PSS004395 — —
[
  • 164 cases
  • , 1,540 controls
]
 — East Asian — UKB —
PSS004396 — —
[
  • 2,910 cases
  • , 21,995 controls
]
 — European non-white British ancestry UKB —
PSS004397 — —
[
  • 1,551 cases
  • , 6,280 controls
]
 — South Asian — UKB —
PSS004398 — —
[
  • 8,999 cases
  • , 58,426 controls
]
 — European white British ancestry UKB Testing cohort (heldout set)
PSS007741 — — 2,484 individuals — African American or Afro-Caribbean Carribean UKB —