Polygenic Score (PGS) ID: PGS000023

Predicted Trait
Reported Trait Type 1 diabetes
Mapped Trait(s) type I diabetes mellitus (EFO_0001359)
Released in PGS: Oct. 14, 2019

Score Details

Score Construction
PGS Name AA_GRS
Variants
Original Genome Build NR
Number of Variants 7
Development Method
Name Genome-wide significant associations
Parameters NR
PGS Source
PGS Catalog Publication (PGP) ID PGP000013
Citation (link to publication) Onengut-Gumuscu S et al. Diabetes Care (2019)

Contributing Samples

Source of Variant Associations (GWAS)
Study Identifiers Sample Numbers Sample Ancestry
EuropePMC: 30659077
[
  • 666 cases
  • , 596 controls
]
,
35.66 % Male samples
African unspecified
EuropePMC: 30659077
[
  • 59 cases
  • , 42 controls
]
,
40.59 % Male samples
African unspecified
EuropePMC: 30659077
[
  • 0 cases
  • , 368 controls
]
,
28.5 % Male samples
African unspecified
EuropePMC: 30659077
[
  • 41 cases
  • , 0 controls
]
,
41.5 % Male samples
African unspecified
EuropePMC: 30659077
[
  • 0 cases
  • , 801 controls
]
,
21.6 % Male samples
African unspecified
EuropePMC: 30659077
[
  • 255 cases
  • , 0 controls
]
,
43.9 % Male samples
African unspecified
EuropePMC: 30659077
[
  • 0 cases
  • , 659 controls
]
,
26.7 % Male samples
African unspecified
EuropePMC: 30659077
[
  • 0 cases
  • , 462 controls
]
,
34.6 % Male samples
African unspecified

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 ID)
PGS Sample Set ID
(PSS ID)
Performance Source Trait PGS Effect Sizes
(per SD change)
PGS Classification Metrics Other Metrics Covariates Included in the Model PGS Performance: Other Relevant Information
PPM000047 PSS000031 PGP000013
Onengut-Gumuscu S et al. (2019)
Reported Trait: Type 1 diabetes AUROC: 0.779
PPM000045 PSS000030 PGP000013
Onengut-Gumuscu S et al. (2019)
Reported Trait: Type 1 diabetes AUROC: 0.87 NOTE: Evaluated using cross-validation on training samples (20% heldout, 1000 iterations)

Evaluated Samples

PGS Sample Set ID
(PSS ID)
Detailed Phenotype Description Participant Follow-up Time Sample Numbers Age of Study Participants Sample Ancestry Additional Ancestry Description Cohort(s) Additional Sample/Cohort Information
PSS000031 Cases are diagnosed with type 1 diabetes.
[
  • 61 cases
  • , 54 controls
]
African unspecified UOF
PSS000030
[
  • 1,021 cases
  • , 2,928 controls
]
African unspecified 7 cohorts
  • BDC
  • ,CLEAR
  • ,GoKinD
  • ,NYCP
  • ,SEARCH
  • ,T1DGC
  • ,UAB