Trait: retinopathy

Experimental Factor Ontology (EFO) Information
Identifier EFO_0003839
Description Any disease or disorder of the retina. [NCIT: C62601]
Trait category
Neurological disorder
Synonyms 4 synonyms
  • eye disease of retina
  • retina eye disease
  • retinal disease
  • retinopathy
Mapped terms 15 mapped terms
  • DOID:5679
  • HGNC:8002
  • ICD10:H35
  • ICD10:H35.9
  • ICD9:362.89
  • ICD9:362.9
  • MESH:D012164
  • MONDO:0005283
  • MedDRA:10038923
  • NCIT:C62601
  • NCIt:C62601
  • OMIM:162080
  • SCTID:29555009
  • SNOMEDCT:399625000
  • UMLS:C0035309
Child trait(s) 4 child traits

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 "retinopathy" 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 Scoring File (FTP Link)
PGS000819
(PRS_DR)
PGP000203 |
Forrest IS et al. Hum Mol Genet (2021)
Diabetic retinopathy diabetic retinopathy 3,537,914
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000819/ScoringFiles/PGS000819.txt.gz
PGS000862
(DR)
PGP000211 |
Aly DM et al. Nat Genet (2021)
Diabetic Retinopathy diabetic retinopathy 30
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000862/ScoringFiles/PGS000862.txt.gz
PGS000990
(GBE_HC878)
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Retinal detachments and breaks (time-to-event) retinal detachment,
retinal break
237
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000990/ScoringFiles/PGS000990.txt.gz
PGS001013
(GBE_BIN_FC5006148)
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Macular degeneration macular degeneration 53
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001013/ScoringFiles/PGS001013.txt.gz
PGS001137
(GBE_HC302)
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Retinal detachment retinal detachment 321
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001137/ScoringFiles/PGS001137.txt.gz
PGS001275
(GBE_HC880)
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Other retinal disorders (time-to-event) retinopathy 6
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001275/ScoringFiles/PGS001275.txt.gz
PGS001276
(GBE_HC881)
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Retinal disorders in diseases classified elsewhere (time-to-event) retinopathy 185
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001276/ScoringFiles/PGS001276.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
PPM002190 PGS000819
(PRS_DR)
PSS001067|
Multi-ancestry (including European)|
6,079 individuals
PGP000203 |
Forrest IS et al. Hum Mol Genet (2021)
Reported Trait: Retinal hemorrhage in inidividuals with type 2 diabetes OR: 1.44 [1.03, 2.02]
PPM002185 PGS000819
(PRS_DR)
PSS001067|
Multi-ancestry (including European)|
6,079 individuals
PGP000203 |
Forrest IS et al. Hum Mol Genet (2021)
Reported Trait: Diabetic retinopathy in individuals with type 2 diabetes OR: 1.12 [1.04, 1.2]
PPM002186 PGS000819
(PRS_DR)
PSS001066|
European Ancestry|
978 individuals
PGP000203 |
Forrest IS et al. Hum Mol Genet (2021)
Reported Trait: Diabetic retinopathy in individuals with type 2 diabetes OR: 1.22 [1.02, 1.41]
PPM002187 PGS000819
(PRS_DR)
PSS001065|
African Ancestry|
1,925 individuals
PGP000203 |
Forrest IS et al. Hum Mol Genet (2021)
Reported Trait: Diabetic retinopathy in individuals with type 2 diabetes OR: 1.15 [1.03, 1.28]
PPM002188 PGS000819
(PRS_DR)
PSS001067|
Multi-ancestry (including European)|
6,079 individuals
PGP000203 |
Forrest IS et al. Hum Mol Genet (2021)
Reported Trait: Diabetic retinopathy in individuals with type 2 diabetes Odds Ratio (OR, top 10% vs bottom 10%): 1.8 [1.28, 2.55] Age, sex, body mass index, PCs(1-20), history of hypertension, glucose levels
PPM002189 PGS000819
(PRS_DR)
PSS001067|
Multi-ancestry (including European)|
6,079 individuals
PGP000203 |
Forrest IS et al. Hum Mol Genet (2021)
Reported Trait: Diabetic retinopathy in individuals with type 2 diabetes OR: 1.14 [1.05, 1.23] PCs(1-20), type 2 diabetes duration, type 2 diabetes medication, hyperglycemia, elevated HbA1c, hypertension, hypercholesterolemia, hyperlipidemia, insomina, sleep apnea, age, sex, body mass index
PPM002191 PGS000819
(PRS_DR)
PSS001067|
Multi-ancestry (including European)|
6,079 individuals
PGP000203 |
Forrest IS et al. Hum Mol Genet (2021)
Reported Trait: Diplopia in individuals with type 2 diabetes OR: 1.31 [1.02, 1.7]
PPM002192 PGS000819
(PRS_DR)
PSS001067|
Multi-ancestry (including European)|
6,079 individuals
PGP000203 |
Forrest IS et al. Hum Mol Genet (2021)
Reported Trait: Time to diabetic retinopathy diagnosis in individuals with type 2 diabetes HR: 1.13 [1.05, 1.21] Age, sex, body mass index, PCs(1-20), history of hypertension, glucose levels
PPM002393 PGS000862
(DR)
PSS001086|
European Ancestry|
3,194 individuals
PGP000211 |
Aly DM et al. Nat Genet (2021)
Reported Trait: Severe Autoimmune Diabetes OR: 0.98 [0.89, 1.08] PC1-10
PPM002395 PGS000862
(DR)
PSS001088|
European Ancestry|
3,869 individuals
PGP000211 |
Aly DM et al. Nat Genet (2021)
Reported Trait: Severe Insulin-Resistant Diabetes OR: 1.09 [1.02, 1.17] PC1-10
PPM002397 PGS000862
(DR)
PSS001084|
European Ancestry|
5,597 individuals
PGP000211 |
Aly DM et al. Nat Genet (2021)
Reported Trait: Moderate Age-Related Diabetes OR: 1.01 [0.96, 1.07] PC1-10
PPM002394 PGS000862
(DR)
PSS001087|
European Ancestry|
3,930 individuals
PGP000211 |
Aly DM et al. Nat Genet (2021)
Reported Trait: Severe Insulin-Deficient Diabetes OR: 1.03 [0.96, 1.1] PC1-10
PPM002396 PGS000862
(DR)
PSS001085|
European Ancestry|
4,116 individuals
PGP000211 |
Aly DM et al. Nat Genet (2021)
Reported Trait: Moderate Obesity-related Diabetes OR: 1.09 [1.02, 1.17] PC1-10
PPM007718 PGS000990
(GBE_HC878)
PSS004682|
African Ancestry|
6,497 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: TTE retinal detachments and breaks AUROC: 0.61927 [0.54935, 0.68918] PGS R2 (no covariates): 0.00198
: 0.0247
Incremental AUROC (full-covars): -0.01882
PGS AUROC (no covariates): 0.46633 [0.38893, 0.54373]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007719 PGS000990
(GBE_HC878)
PSS004683|
East Asian Ancestry|
1,704 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: TTE retinal detachments and breaks AUROC: 0.75788 [0.63933, 0.87643] : 0.10693
Incremental AUROC (full-covars): 0.0196
PGS R2 (no covariates): 0.01417
PGS AUROC (no covariates): 0.5954 [0.44975, 0.74105]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007720 PGS000990
(GBE_HC878)
PSS004684|
European Ancestry|
24,905 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: TTE retinal detachments and breaks AUROC: 0.64308 [0.61279, 0.67337] : 0.02565
Incremental AUROC (full-covars): 0.00606
PGS R2 (no covariates): 0.00213
PGS AUROC (no covariates): 0.54152 [0.50847, 0.57457]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007721 PGS000990
(GBE_HC878)
PSS004685|
South Asian Ancestry|
7,831 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: TTE retinal detachments and breaks AUROC: 0.71433 [0.66221, 0.76646] : 0.05371
Incremental AUROC (full-covars): 0.0098
PGS R2 (no covariates): 0.00492
PGS AUROC (no covariates): 0.56225 [0.49739, 0.62711]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007722 PGS000990
(GBE_HC878)
PSS004686|
European Ancestry|
67,425 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: TTE retinal detachments and breaks AUROC: 0.63532 [0.61784, 0.65279] : 0.02226
Incremental AUROC (full-covars): 0.00479
PGS R2 (no covariates): 0.00207
PGS AUROC (no covariates): 0.53945 [0.52027, 0.55863]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007828 PGS001013
(GBE_BIN_FC5006148)
PSS003974|
African Ancestry|
3,196 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Eye problems/disorders Macular degeneration AUROC: 0.7052 [0.63504, 0.77537] : 0.07369
Incremental AUROC (full-covars): -0.00271
PGS R2 (no covariates): 6e-05
PGS AUROC (no covariates): 0.50582 [0.43466, 0.57699]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007829 PGS001013
(GBE_BIN_FC5006148)
PSS003975|
East Asian Ancestry|
711 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Eye problems/disorders Macular degeneration AUROC: 0.90123 [0.8354, 0.96707] : 0.32752
Incremental AUROC (full-covars): -0.00016
PGS R2 (no covariates): 0.01068
PGS AUROC (no covariates): 0.59339 [0.45683, 0.72996]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007830 PGS001013
(GBE_BIN_FC5006148)
PSS003976|
European Ancestry|
9,755 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Eye problems/disorders Macular degeneration AUROC: 0.72878 [0.69745, 0.76011] : 0.07729
Incremental AUROC (full-covars): 0.00516
PGS R2 (no covariates): 0.00265
PGS AUROC (no covariates): 0.53845 [0.49847, 0.57843]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007831 PGS001013
(GBE_BIN_FC5006148)
PSS003977|
South Asian Ancestry|
3,327 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Eye problems/disorders Macular degeneration AUROC: 0.76624 [0.71098, 0.8215] : 0.10324
Incremental AUROC (full-covars): -0.00396
PGS R2 (no covariates): 0.00053
PGS AUROC (no covariates): 0.47169 [0.39626, 0.54712]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007832 PGS001013
(GBE_BIN_FC5006148)
PSS003978|
European Ancestry|
22,208 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Eye problems/disorders Macular degeneration AUROC: 0.70257 [0.6826, 0.72253] : 0.06704
Incremental AUROC (full-covars): 0.00573
PGS R2 (no covariates): 0.00599
PGS AUROC (no covariates): 0.55283 [0.52939, 0.57627]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008412 PGS001137
(GBE_HC302)
PSS004418|
African Ancestry|
6,497 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Retinal detachment AUROC: 0.65217 [0.57926, 0.72508] : 0.03407
Incremental AUROC (full-covars): -0.00918
PGS R2 (no covariates): 1e-05
PGS AUROC (no covariates): 0.49921 [0.41839, 0.58004]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008413 PGS001137
(GBE_HC302)
PSS004419|
East Asian Ancestry|
1,704 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Retinal detachment AUROC: 0.7872 [0.68424, 0.89016] : 0.13209
Incremental AUROC (full-covars): 0.01471
PGS R2 (no covariates): 0.00931
PGS AUROC (no covariates): 0.57064 [0.39309, 0.74819]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008414 PGS001137
(GBE_HC302)
PSS004420|
European Ancestry|
24,905 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Retinal detachment AUROC: 0.65311 [0.62153, 0.68468] : 0.02791
Incremental AUROC (full-covars): 0.01854
PGS R2 (no covariates): 0.00663
PGS AUROC (no covariates): 0.57317 [0.53771, 0.60862]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008415 PGS001137
(GBE_HC302)
PSS004421|
South Asian Ancestry|
7,831 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Retinal detachment AUROC: 0.73537 [0.67789, 0.79285] : 0.0635
Incremental AUROC (full-covars): 0.01358
PGS R2 (no covariates): 0.00738
PGS AUROC (no covariates): 0.55915 [0.48569, 0.63261]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008416 PGS001137
(GBE_HC302)
PSS004422|
European Ancestry|
67,425 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Retinal detachment AUROC: 0.63847 [0.61945, 0.65749] : 0.02286
Incremental AUROC (full-covars): 0.00912
PGS R2 (no covariates): 0.00357
PGS AUROC (no covariates): 0.55079 [0.52979, 0.57179]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008873 PGS001275
(GBE_HC880)
PSS004687|
African Ancestry|
6,497 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: TTE other retinal disorders AUROC: 0.70701 [0.6592, 0.75482] : 0.06654
Incremental AUROC (full-covars): -0.00077
PGS R2 (no covariates): 0.00011
PGS AUROC (no covariates): 0.50886 [0.45807, 0.55965]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008874 PGS001275
(GBE_HC880)
PSS004688|
East Asian Ancestry|
1,704 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: TTE other retinal disorders AUROC: 0.76408 [0.70187, 0.8263] : 0.11034
Incremental AUROC (full-covars): 0.00238
PGS R2 (no covariates): 0.00124
PGS AUROC (no covariates): 0.54196 [0.45417, 0.62976]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008875 PGS001275
(GBE_HC880)
PSS004689|
European Ancestry|
24,905 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: TTE other retinal disorders AUROC: 0.68838 [0.66508, 0.71167] : 0.04946
Incremental AUROC (full-covars): 0.00295
PGS R2 (no covariates): 0.00217
PGS AUROC (no covariates): 0.53609 [0.50994, 0.56223]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008876 PGS001275
(GBE_HC880)
PSS004690|
South Asian Ancestry|
7,831 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: TTE other retinal disorders AUROC: 0.73994 [0.71282, 0.76707] : 0.09449
Incremental AUROC (full-covars): 0.00101
PGS R2 (no covariates): 0.00053
PGS AUROC (no covariates): 0.51345 [0.47882, 0.54808]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008877 PGS001275
(GBE_HC880)
PSS004691|
European Ancestry|
67,425 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: TTE other retinal disorders AUROC: 0.67575 [0.6628, 0.6887] : 0.04416
Incremental AUROC (full-covars): 0.00229
PGS R2 (no covariates): 0.00203
PGS AUROC (no covariates): 0.53038 [0.51532, 0.54545]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008878 PGS001276
(GBE_HC881)
PSS004692|
African Ancestry|
6,497 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: TTE retinal disorders in diseases classified elsewhere AUROC: 0.69535 [0.65164, 0.73906] : 0.04898
Incremental AUROC (full-covars): -0.01537
PGS R2 (no covariates): 0.00048
PGS AUROC (no covariates): 0.47863 [0.42888, 0.52839]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008879 PGS001276
(GBE_HC881)
PSS004693|
East Asian Ancestry|
1,704 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: TTE retinal disorders in diseases classified elsewhere AUROC: 0.78112 [0.63575, 0.92649] : 0.09795
Incremental AUROC (full-covars): -0.03107
PGS R2 (no covariates): 0.00124
PGS AUROC (no covariates): 0.45159 [0.20305, 0.70013]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008880 PGS001276
(GBE_HC881)
PSS004694|
European Ancestry|
24,905 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: TTE retinal disorders in diseases classified elsewhere AUROC: 0.70588 [0.66187, 0.7499] : 0.04864
Incremental AUROC (full-covars): 0.02939
PGS R2 (no covariates): 0.01461
PGS AUROC (no covariates): 0.60872 [0.55828, 0.65917]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008881 PGS001276
(GBE_HC881)
PSS004695|
South Asian Ancestry|
7,831 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: TTE retinal disorders in diseases classified elsewhere AUROC: 0.73414 [0.70226, 0.76602] : 0.08369
Incremental AUROC (full-covars): -7e-05
PGS R2 (no covariates): 0.00183
PGS AUROC (no covariates): 0.53682 [0.49711, 0.57653]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008882 PGS001276
(GBE_HC881)
PSS004696|
European Ancestry|
67,425 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: TTE retinal disorders in diseases classified elsewhere AUROC: 0.67399 [0.64743, 0.70056] : 0.03213
Incremental AUROC (full-covars): 0.02207
PGS R2 (no covariates): 0.00817
PGS AUROC (no covariates): 0.57664 [0.54625, 0.60704]
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
PSS004418
[
  • 47 cases
  • , 6,450 controls
]
African unspecified UKB
PSS004419
[
  • 11 cases
  • , 1,693 controls
]
East Asian UKB
PSS004420
[
  • 245 cases
  • , 24,660 controls
]
European non-white British ancestry UKB
PSS004421
[
  • 64 cases
  • , 7,767 controls
]
South Asian UKB
PSS004422
[
  • 772 cases
  • , 66,653 controls
]
European white British ancestry UKB Testing cohort (heldout set)
PSS004682
[
  • 57 cases
  • , 6,440 controls
]
African unspecified UKB
PSS004683
[
  • 12 cases
  • , 1,692 controls
]
East Asian UKB
PSS004684
[
  • 296 cases
  • , 24,609 controls
]
European non-white British ancestry UKB
PSS004685
[
  • 76 cases
  • , 7,755 controls
]
South Asian UKB
PSS004686
[
  • 908 cases
  • , 66,517 controls
]
European white British ancestry UKB Testing cohort (heldout set)
PSS004687
[
  • 125 cases
  • , 6,372 controls
]
African unspecified UKB
PSS004688
[
  • 43 cases
  • , 1,661 controls
]
East Asian UKB
PSS004689
[
  • 490 cases
  • , 24,415 controls
]
European non-white British ancestry UKB
PSS004690
[
  • 284 cases
  • , 7,547 controls
]
South Asian UKB
PSS004691
[
  • 1,549 cases
  • , 65,876 controls
]
European white British ancestry UKB Testing cohort (heldout set)
PSS004692
[
  • 129 cases
  • , 6,368 controls
]
African unspecified UKB
PSS004693
[
  • 9 cases
  • , 1,695 controls
]
East Asian UKB
PSS004694
[
  • 121 cases
  • , 24,784 controls
]
European non-white British ancestry UKB
PSS004695
[
  • 204 cases
  • , 7,627 controls
]
South Asian UKB
PSS004696
[
  • 363 cases
  • , 67,062 controls
]
European white British ancestry UKB Testing cohort (heldout set)
PSS001084 Moderate Age-Related Diabetes (MARD) vs. controls
[
  • 2,853 cases
  • , 2,744 controls
]
European Swedish ANDIS
PSS001085 Moderate Obesity-related Diabetes (MOD) vs. controls
[
  • 1,372 cases
  • , 2,744 controls
]
European Swedish ANDIS
PSS001086 Severe Autoimmune Diabetes (SAID) vs. controls
[
  • 450 cases
  • , 2,744 controls
]
European Swedish ANDIS
PSS001087 Severe Insulin-Deficient Diabetes (SIDD) vs. controls
[
  • 1,186 cases
  • , 2,744 controls
]
European Swedish ANDIS
PSS001088 Severe Insulin-Resistant Diabetes (SIRD) vs. controls
[
  • 1,125 cases
  • , 2,744 controls
]
European Swedish ANDIS
PSS003974
[
  • 68 cases
  • , 3,128 controls
]
African unspecified UKB
PSS003975
[
  • 18 cases
  • , 693 controls
]
East Asian UKB
PSS003976
[
  • 235 cases
  • , 9,520 controls
]
European non-white British ancestry UKB
PSS003977
[
  • 63 cases
  • , 3,264 controls
]
South Asian UKB
PSS003978
[
  • 637 cases
  • , 21,571 controls
]
European white British ancestry UKB Testing cohort (heldout set)
PSS001065 All individuals had type 2 diabetes (T2D). Cases were individuals with diabetic retinopathy (DR). T2D was ascertained with ICD-10 from E11.0-E11.9. DR was ascertained with an ICD-10 of E11.3.
[
  • 317 cases
  • , 1,608 controls
]
African American or Afro-Caribbean Mount Sinai
PSS001066 All individuals had type 2 diabetes (T2D). Cases were individuals with diabetic retinopathy (DR). T2D was ascertained with ICD-10 from E11.0-E11.9. DR was ascertained with an ICD-10 of E11.3.
[
  • 90 cases
  • , 888 controls
]
European Mount Sinai
PSS001067 All individuals had type 2 diabetes (T2D). Cases were individuals with diabetic retinopathy (DR). T2D was ascertained with ICD-10 from E11.0-E11.9. DR was ascertained with an ICD-10 of E11.3.
[
  • 90 cases
  • , 888 controls
]
European Mount Sinai
PSS001067 All individuals had type 2 diabetes (T2D). Cases were individuals with diabetic retinopathy (DR). T2D was ascertained with ICD-10 from E11.0-E11.9. DR was ascertained with an ICD-10 of E11.3.
[
  • 317 cases
  • , 1,608 controls
]
African American or Afro-Caribbean Mount Sinai
PSS001067 All individuals had type 2 diabetes (T2D). Cases were individuals with diabetic retinopathy (DR). T2D was ascertained with ICD-10 from E11.0-E11.9. DR was ascertained with an ICD-10 of E11.3.
[
  • 507 cases
  • , 2,182 controls
]
Hispanic or Latin American Mount Sinai
PSS001067 All individuals had type 2 diabetes (T2D). Cases were individuals with diabetic retinopathy (DR). T2D was ascertained with ICD-10 from E11.0-E11.9. DR was ascertained with an ICD-10 of E11.3.
[
  • 49 cases
  • , 438 controls
]
Asian unspecified, Native American, NR Mount Sinai