Polygenic Score (PGS) ID: PGS001093

Predicted Trait
Reported Trait Hair color, blonde
Mapped Trait(s) hair colour measurement (EFO_0007822)
Additional Trait Information https://biobankengine.stanford.edu/RIVAS_HG19/snpnet/BIN_FC1001747
Released in PGS Catalog: Oct. 21, 2021
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Score Details

Score Construction
PGS Name GBE_BIN_FC1001747
Development Method
Name snpnet
Parameters NR
Variants
Original Genome Build GRCh37
Number of Variants 6,970
Effect Weight Type NR
PGS Source
PGS Catalog Publication (PGP) ID PGP000244
Citation (link to publication) Tanigawa Y et al. PLoS Genet (2022)
Ancestry Distribution
Score Development/Training
European: 100%
269,201 individuals (100%)
PGS Evaluation
European: 66.7%
South Asian: 33.3%
3 Sample Sets

Development Samples

Score Development/Training
Study Identifiers Sample Numbers Sample Ancestry Cohort(s) Phenotype Definitions & Methods Age of Study Participants Participant Follow-up Time Additional Ancestry Description Additional Sample/Cohort Information
[
  • 31,050 cases
  • , 238,151 controls
]
European UKB white British ancestry

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)
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
PPM008208 PSS003747|
European Ancestry|
24,865 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Reported Trait: Hair colour (natural, before greying) blonde AUROC: 0.8629 [0.85606, 0.86974] : 0.35705
Incremental AUROC (full-covars): 0.14577
PGS R2 (no covariates): 0.35919
PGS AUROC (no covariates): 0.86449 [0.85779, 0.87119]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008209 PSS003748|
South Asian Ancestry|
7,652 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Reported Trait: Hair colour (natural, before greying) blonde AUROC: 0.72231 [0.56379, 0.88083] : 0.07035
Incremental AUROC (full-covars): -0.06225
PGS R2 (no covariates): 0.01842
PGS AUROC (no covariates): 0.60036 [0.44104, 0.75968]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008210 PSS003749|
European Ancestry|
67,286 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Reported Trait: Hair colour (natural, before greying) blonde AUROC: 0.84642 [0.84221, 0.85062] : 0.32199
Incremental AUROC (full-covars): 0.28973
PGS R2 (no covariates): 0.32399
PGS AUROC (no covariates): 0.84754 [0.84337, 0.85171]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method

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
PSS003748
[
  • 11 cases
  • , 7,641 controls
]
South Asian UKB
PSS003749
[
  • 7,914 cases
  • , 59,372 controls
]
European white British ancestry UKB Testing cohort (heldout set)
PSS003747
[
  • 2,765 cases
  • , 22,100 controls
]
European non-white British ancestry UKB