Trait: goiter

Trait Information
Identifier MONDO_0005397
Description Enlargement of the thyroid gland usually caused by lack of iodine in the diet, hyperthyroidism, or thyroid nodules. Symptoms include difficulty in breathing and swallowing. [NCIT: P378]
Trait category
Other trait
Synonyms 4 synonyms
  • Thyromegaly
  • goiter
  • goiter (disease)
  • goitre (disease)
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 "goiter" 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)
PGS000928
(GBE_HC644)
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Other non-toxic goitre (time-to-event) nontoxic goiter 170
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000928/ScoringFiles/PGS000928.txt.gz
PGS001814
(portability-PLR_241.2)
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Nontoxic multinodular goiter multinodular goiter,
nontoxic goiter		 322
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001814/ScoringFiles/PGS001814.txt.gz
PGS002022
(portability-ldpred2_241.2)
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Nontoxic multinodular goiter multinodular goiter,
nontoxic goiter		 375,470
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002022/ScoringFiles/PGS002022.txt.gz
PGS005261
(benign_nodular_goiter_mixed_pt)
 PGP000748 |
White SL et al. medRxiv (2025)
|Pre		 Benign nodular goiter benign,
nodular goiter		 110
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS005261/ScoringFiles/PGS005261.txt.gz
PGS005262
(benign_nodular_goiter_mixed_prscs)
 PGP000748 |
White SL et al. medRxiv (2025)
|Pre		 Benign nodular goiter benign,
nodular goiter		 1,085,173
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS005262/ScoringFiles/PGS005262.txt.gz
PGS005263
(benign_nodular_goiter_eur_prscs)
 PGP000748 |
White SL et al. medRxiv (2025)
|Pre		 Benign nodular goiter benign,
nodular goiter		 1,085,170
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS005263/ScoringFiles/PGS005263.txt.gz
PGS005264
(graves_disease_mixed_pt)
 PGP000748 |
White SL et al. medRxiv (2025)
|Pre		 Graves' disease Graves disease 112
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS005264/ScoringFiles/PGS005264.txt.gz
PGS005265
(graves_disease_mixed_prscs)
 PGP000748 |
White SL et al. medRxiv (2025)
|Pre		 Graves' disease Graves disease 1,085,173
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS005265/ScoringFiles/PGS005265.txt.gz
PGS005266
(graves_disease_eur_prscs)
 PGP000748 |
White SL et al. medRxiv (2025)
|Pre		 Graves' disease Graves disease 1,085,170
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS005266/ScoringFiles/PGS005266.txt.gz
PGS005273
(tc_vs_bng_mixed_prscs)
 PGP000748 |
White SL et al. medRxiv (2025)
|Pre		 Thyroid carcenoma vs benign nodular goiter benign,
nodular goiter,
thyroid gland carcinoma		 1,085,164
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS005273/ScoringFiles/PGS005273.txt.gz
PGS005274
(tc_vs_bng_eur_prscs)
 PGP000748 |
White SL et al. medRxiv (2025)
|Pre		 Thyroid carcenoma vs benign nodular goiter benign,
nodular goiter,
thyroid gland carcinoma		 1,084,965
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS005274/ScoringFiles/PGS005274.txt.gz
PGS018645
(TPMI_240_Lassosum2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Simple and unspecified goiter goiter 390
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018645/ScoringFiles/PGS018645.txt.gz
PGS018646
(TPMI_240_LDpred2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Simple and unspecified goiter goiter 939,871
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018646/ScoringFiles/PGS018646.txt.gz
PGS018647
(TPMI_240_MegaPRS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Simple and unspecified goiter goiter 42,921
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018647/ScoringFiles/PGS018647.txt.gz
PGS018648
(TPMI_240_PRS-CS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Simple and unspecified goiter goiter 983,818
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018648/ScoringFiles/PGS018648.txt.gz
PGS018649
(TPMI_240_SBayesR)
 PGP000835 |
Chen HH et al. Nature (2025)
 Simple and unspecified goiter goiter 92,760
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018649/ScoringFiles/PGS018649.txt.gz
PGS018655
(TPMI_241.1_Lassosum2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Nontoxic uninodular goiter nontoxic goiter 327
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018655/ScoringFiles/PGS018655.txt.gz
PGS018656
(TPMI_241.1_LDpred2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Nontoxic uninodular goiter nontoxic goiter 215,680
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018656/ScoringFiles/PGS018656.txt.gz
PGS018657
(TPMI_241.1_MegaPRS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Nontoxic uninodular goiter nontoxic goiter 561,432
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018657/ScoringFiles/PGS018657.txt.gz
PGS018658
(TPMI_241.1_PRS-CS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Nontoxic uninodular goiter nontoxic goiter 983,778
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018658/ScoringFiles/PGS018658.txt.gz
PGS018659
(TPMI_241.1_SBayesR)
 PGP000835 |
Chen HH et al. Nature (2025)
 Nontoxic uninodular goiter nontoxic goiter 1,006,150
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018659/ScoringFiles/PGS018659.txt.gz
PGS018660
(TPMI_241.2_Lassosum2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Nontoxic multinodular goiter nontoxic goiter 610
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018660/ScoringFiles/PGS018660.txt.gz
PGS018661
(TPMI_241.2_LDpred2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Nontoxic multinodular goiter nontoxic goiter 275,929
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018661/ScoringFiles/PGS018661.txt.gz
PGS018662
(TPMI_241.2_MegaPRS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Nontoxic multinodular goiter nontoxic goiter 45,575
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018662/ScoringFiles/PGS018662.txt.gz
PGS018663
(TPMI_241.2_PRS-CS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Nontoxic multinodular goiter nontoxic goiter 983,819
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018663/ScoringFiles/PGS018663.txt.gz
PGS018664
(TPMI_241.2_SBayesR)
 PGP000835 |
Chen HH et al. Nature (2025)
 Nontoxic multinodular goiter nontoxic goiter 142,675
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018664/ScoringFiles/PGS018664.txt.gz
PGS018671
(TPMI_242.1_Lassosum2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Graves disease Graves disease 415
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018671/ScoringFiles/PGS018671.txt.gz
PGS018672
(TPMI_242.1_LDpred2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Graves disease Graves disease 220,843
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018672/ScoringFiles/PGS018672.txt.gz
PGS018673
(TPMI_242.1_MegaPRS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Graves disease Graves disease 37,771
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018673/ScoringFiles/PGS018673.txt.gz
PGS018674
(TPMI_242.1_PRS-CS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Graves disease Graves disease 983,772
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018674/ScoringFiles/PGS018674.txt.gz
PGS018675
(TPMI_242.1_PRSmix+)
 PGP000835 |
Chen HH et al. Nature (2025)
 Graves disease Graves disease 1,071,402
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018675/ScoringFiles/PGS018675.txt.gz
PGS018676
(TPMI_242.1_SBayesR)
 PGP000835 |
Chen HH et al. Nature (2025)
 Graves disease Graves disease 975,251
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018676/ScoringFiles/PGS018676.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
PPM007467 PGS000928
(GBE_HC644)
 PSS004560|
African Ancestry|
6,497 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE other non-toxic goitre — AUROC: 0.72128 [0.66829, 0.77427] R²: 0.0605
Incremental AUROC (full-covars): 0.01397
PGS R2 (no covariates): 0.01481
PGS AUROC (no covariates): 0.60656 [0.54212, 0.67101]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007468 PGS000928
(GBE_HC644)
 PSS004561|
East Asian Ancestry|
1,704 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE other non-toxic goitre — AUROC: 0.6964 [0.60514, 0.78765] R²: 0.04766
Incremental AUROC (full-covars): 0.00791
PGS R2 (no covariates): 0.00213
PGS AUROC (no covariates): 0.559 [0.46259, 0.65542]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007469 PGS000928
(GBE_HC644)
 PSS004562|
European Ancestry|
24,905 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE other non-toxic goitre — AUROC: 0.71135 [0.68228, 0.74042] R²: 0.0552
Incremental AUROC (full-covars): 0.0365
PGS R2 (no covariates): 0.01651
PGS AUROC (no covariates): 0.62112 [0.58564, 0.6566]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007470 PGS000928
(GBE_HC644)
 PSS004563|
South Asian Ancestry|
7,831 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE other non-toxic goitre — AUROC: 0.77727 [0.73439, 0.82016] R²: 0.09335
Incremental AUROC (full-covars): 0.02392
PGS R2 (no covariates): 0.01984
PGS AUROC (no covariates): 0.62519 [0.56312, 0.68726]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007471 PGS000928
(GBE_HC644)
 PSS004564|
European Ancestry|
67,425 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE other non-toxic goitre — AUROC: 0.72495 [0.70529, 0.74461] R²: 0.05905
Incremental AUROC (full-covars): 0.03129
PGS R2 (no covariates): 0.01271
PGS AUROC (no covariates): 0.60048 [0.57499, 0.62598]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009413 PGS001814
(portability-PLR_241.2)
 PSS009058|
European Ancestry|
3,930 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Nontoxic multinodular goiter — — Partial Correlation (partial-r): 0.0146 [-0.0168, 0.0459] sex, age, birth date, deprivation index, 16 PCs —
PPM009414 PGS001814
(portability-PLR_241.2)
 PSS008612|
European Ancestry|
6,363 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Nontoxic multinodular goiter — — Partial Correlation (partial-r): 0.0205 [-0.0041, 0.0451] sex, age, birth date, deprivation index, 16 PCs —
PPM009415 PGS001814
(portability-PLR_241.2)
 PSS008388|
Greater Middle Eastern Ancestry|
1,140 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Nontoxic multinodular goiter — — Partial Correlation (partial-r): 0.0211 [-0.0375, 0.0796] sex, age, birth date, deprivation index, 16 PCs —
PPM009416 PGS001814
(portability-PLR_241.2)
 PSS008166|
South Asian Ancestry|
5,927 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Nontoxic multinodular goiter — — Partial Correlation (partial-r): 0.0654 [0.0399, 0.0907] sex, age, birth date, deprivation index, 16 PCs —
PPM009417 PGS001814
(portability-PLR_241.2)
 PSS007953|
East Asian Ancestry|
1,744 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Nontoxic multinodular goiter — — Partial Correlation (partial-r): 0.025 [-0.0222, 0.0722] sex, age, birth date, deprivation index, 16 PCs —
PPM009418 PGS001814
(portability-PLR_241.2)
 PSS007734|
African Ancestry|
2,378 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Nontoxic multinodular goiter — — Partial Correlation (partial-r): 0.0403 [0.0, 0.0806] sex, age, birth date, deprivation index, 16 PCs —
PPM009419 PGS001814
(portability-PLR_241.2)
 PSS008837|
African Ancestry|
3,830 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Nontoxic multinodular goiter — — Partial Correlation (partial-r): 0.0442 [0.0125, 0.0759] sex, age, birth date, deprivation index, 16 PCs —
PPM009412 PGS001814
(portability-PLR_241.2)
 PSS009284|
European Ancestry|
19,043 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Nontoxic multinodular goiter — — Partial Correlation (partial-r): 0.0277 [0.0135, 0.0419] sex, age, birth date, deprivation index, 16 PCs —
PPM011050 PGS002022
(portability-ldpred2_241.2)
 PSS009284|
European Ancestry|
19,043 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Nontoxic multinodular goiter — — Partial Correlation (partial-r): 0.024 [0.0098, 0.0382] sex, age, birth date, deprivation index, 16 PCs —
PPM011051 PGS002022
(portability-ldpred2_241.2)
 PSS009058|
European Ancestry|
3,930 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Nontoxic multinodular goiter — — Partial Correlation (partial-r): 0.0213 [-0.01, 0.0527] sex, age, birth date, deprivation index, 16 PCs —
PPM011052 PGS002022
(portability-ldpred2_241.2)
 PSS008612|
European Ancestry|
6,363 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Nontoxic multinodular goiter — — Partial Correlation (partial-r): 0.019 [-0.0056, 0.0436] sex, age, birth date, deprivation index, 16 PCs —
PPM011053 PGS002022
(portability-ldpred2_241.2)
 PSS008388|
Greater Middle Eastern Ancestry|
1,140 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Nontoxic multinodular goiter — — Partial Correlation (partial-r): 0.0214 [-0.0372, 0.0799] sex, age, birth date, deprivation index, 16 PCs —
PPM011054 PGS002022
(portability-ldpred2_241.2)
 PSS008166|
South Asian Ancestry|
5,927 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Nontoxic multinodular goiter — — Partial Correlation (partial-r): 0.0677 [0.0423, 0.0931] sex, age, birth date, deprivation index, 16 PCs —
PPM011055 PGS002022
(portability-ldpred2_241.2)
 PSS007953|
East Asian Ancestry|
1,744 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Nontoxic multinodular goiter — — Partial Correlation (partial-r): 0.0096 [-0.0376, 0.0568] sex, age, birth date, deprivation index, 16 PCs —
PPM011056 PGS002022
(portability-ldpred2_241.2)
 PSS007734|
African Ancestry|
2,378 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Nontoxic multinodular goiter — — Partial Correlation (partial-r): 0.0282 [-0.0122, 0.0685] sex, age, birth date, deprivation index, 16 PCs —
PPM011057 PGS002022
(portability-ldpred2_241.2)
 PSS008837|
African Ancestry|
3,830 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Nontoxic multinodular goiter — — Partial Correlation (partial-r): 0.0496 [0.0179, 0.0813] sex, age, birth date, deprivation index, 16 PCs —
PPM022744 PGS005261
(benign_nodular_goiter_mixed_pt)
 PSS012069|
Multi-ancestry (including European)|
94,651 individuals
 PGP000748 |
White SL et al. medRxiv (2025)
|Pre		 Reported Trait: benign nodular gioter OR: 1.048
β: 0.047		 AUROC: 0.58544 — — —
PPM022745 PGS005262
(benign_nodular_goiter_mixed_prscs)
 PSS012069|
Multi-ancestry (including European)|
94,651 individuals
 PGP000748 |
White SL et al. medRxiv (2025)
|Pre		 Reported Trait: benign nodular gioter OR: 1.40839
β: 0.34244		 AUROC: 0.59331 — — —
PPM022746 PGS005263
(benign_nodular_goiter_eur_prscs)
 PSS012069|
Multi-ancestry (including European)|
94,651 individuals
 PGP000748 |
White SL et al. medRxiv (2025)
|Pre		 Reported Trait: benign nodular gioter OR: 1.362
β: 0.30895		 AUROC: 0.58756 — — —
PPM022747 PGS005264
(graves_disease_mixed_pt)
 PSS012069|
Multi-ancestry (including European)|
94,651 individuals
 PGP000748 |
White SL et al. medRxiv (2025)
|Pre		 Reported Trait: graves' disease OR: 1.008
β: 0.008		 AUROC: 0.6587 — — —
PPM022748 PGS005265
(graves_disease_mixed_prscs)
 PSS012069|
Multi-ancestry (including European)|
94,651 individuals
 PGP000748 |
White SL et al. medRxiv (2025)
|Pre		 Reported Trait: graves' disease OR: 1.62508
β: 0.48556		 AUROC: 0.66522 — — —
PPM022749 PGS005266
(graves_disease_eur_prscs)
 PSS012069|
Multi-ancestry (including European)|
94,651 individuals
 PGP000748 |
White SL et al. medRxiv (2025)
|Pre		 Reported Trait: graves' disease OR: 1.54333
β: 0.43394		 AUROC: 0.66373 — — —
PPM022756 PGS005273
(tc_vs_bng_mixed_prscs)
 PSS012069|
Multi-ancestry (including European)|
94,651 individuals
 PGP000748 |
White SL et al. medRxiv (2025)
|Pre		 Reported Trait: thyroid carcenoma vs benign nodular goiter OR: 1.55052
β: 0.43859		 AUROC: 0.61739 — — —
PPM022757 PGS005274
(tc_vs_bng_eur_prscs)
 PSS012069|
Multi-ancestry (including European)|
94,651 individuals
 PGP000748 |
White SL et al. medRxiv (2025)
|Pre		 Reported Trait: thyroid carcenoma vs benign nodular goiter OR: 1.49346
β: 0.4011		 AUROC: 0.61349 — — —
PPM036827 PGS018645
(TPMI_240_Lassosum2)
 PSS012548|
East Asian Ancestry|
17,951 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Simple and unspecified goiter — AUROC: 0.73884 R²: 0.11531 sex, age, array, PCs 1-10 —
PPM036828 PGS018646
(TPMI_240_LDpred2)
 PSS012547|
East Asian Ancestry|
17,951 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Simple and unspecified goiter — AUROC: 0.73948 R²: 0.11601 sex, age, array, PCs 1-10 —
PPM036829 PGS018647
(TPMI_240_MegaPRS)
 PSS012549|
East Asian Ancestry|
17,951 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Simple and unspecified goiter — AUROC: 0.72951 R²: 0.1052 sex, age, array, PCs 1-10 —
PPM036830 PGS018648
(TPMI_240_PRS-CS)
 PSS012550|
East Asian Ancestry|
17,951 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Simple and unspecified goiter — AUROC: 0.73667 R²: 0.11346 sex, age, array, PCs 1-10 —
PPM036831 PGS018649
(TPMI_240_SBayesR)
 PSS012551|
East Asian Ancestry|
17,951 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Simple and unspecified goiter — AUROC: 0.73854 R²: 0.11544 sex, age, array, PCs 1-10 —
PPM036837 PGS018655
(TPMI_241.1_Lassosum2)
 PSS012553|
East Asian Ancestry|
17,269 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Nontoxic uninodular goiter — AUROC: 0.71869 R²: 0.01744 sex, age, array, PCs 1-10 —
PPM036838 PGS018656
(TPMI_241.1_LDpred2)
 PSS012552|
East Asian Ancestry|
17,269 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Nontoxic uninodular goiter — AUROC: 0.71953 R²: 0.01769 sex, age, array, PCs 1-10 —
PPM036839 PGS018657
(TPMI_241.1_MegaPRS)
 PSS012554|
East Asian Ancestry|
17,269 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Nontoxic uninodular goiter — AUROC: 0.71549 R²: 0.01662 sex, age, array, PCs 1-10 —
PPM036840 PGS018658
(TPMI_241.1_PRS-CS)
 PSS012555|
East Asian Ancestry|
17,269 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Nontoxic uninodular goiter — AUROC: 0.71517 R²: 0.01683 sex, age, array, PCs 1-10 —
PPM036841 PGS018659
(TPMI_241.1_SBayesR)
 PSS012556|
East Asian Ancestry|
17,269 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Nontoxic uninodular goiter — AUROC: 0.7192 R²: 0.01711 sex, age, array, PCs 1-10 —
PPM036842 PGS018660
(TPMI_241.2_Lassosum2)
 PSS012558|
East Asian Ancestry|
17,326 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Nontoxic multinodular goiter — AUROC: 0.70696 R²: 0.02085 sex, age, array, PCs 1-10 —
PPM036843 PGS018661
(TPMI_241.2_LDpred2)
 PSS012557|
East Asian Ancestry|
17,326 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Nontoxic multinodular goiter — AUROC: 0.7074 R²: 0.0212 sex, age, array, PCs 1-10 —
PPM036844 PGS018662
(TPMI_241.2_MegaPRS)
 PSS012559|
East Asian Ancestry|
17,326 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Nontoxic multinodular goiter — AUROC: 0.69943 R²: 0.01753 sex, age, array, PCs 1-10 —
PPM036845 PGS018663
(TPMI_241.2_PRS-CS)
 PSS012560|
East Asian Ancestry|
17,326 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Nontoxic multinodular goiter — AUROC: 0.70611 R²: 0.02061 sex, age, array, PCs 1-10 —
PPM036846 PGS018664
(TPMI_241.2_SBayesR)
 PSS012561|
East Asian Ancestry|
17,326 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Nontoxic multinodular goiter — AUROC: 0.70752 R²: 0.02113 sex, age, array, PCs 1-10 —
PPM036853 PGS018671
(TPMI_242.1_Lassosum2)
 PSS012568|
East Asian Ancestry|
17,305 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Graves disease — AUROC: 0.74792 R²: 0.03286 sex, age, array, PCs 1-10 —
PPM036854 PGS018672
(TPMI_242.1_LDpred2)
 PSS012567|
East Asian Ancestry|
17,305 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Graves disease — AUROC: 0.75387 R²: 0.03447 sex, age, array, PCs 1-10 —
PPM036855 PGS018673
(TPMI_242.1_MegaPRS)
 PSS012569|
East Asian Ancestry|
17,305 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Graves disease — AUROC: 0.75062 R²: 0.03216 sex, age, array, PCs 1-10 —
PPM036856 PGS018674
(TPMI_242.1_PRS-CS)
 PSS012570|
East Asian Ancestry|
17,305 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Graves disease — AUROC: 0.74562 R²: 0.03194 sex, age, array, PCs 1-10 —
PPM036857 PGS018675
(TPMI_242.1_PRSmix+)
 PSS012571|
East Asian Ancestry|
17,305 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Graves disease — AUROC: 0.75988 R²: 0.03585 sex, age, array, PCs 1-10 —
PPM036858 PGS018676
(TPMI_242.1_SBayesR)
 PSS012572|
East Asian Ancestry|
17,305 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Graves disease — AUROC: 0.74098 R²: 0.03008 sex, age, array, PCs 1-10 —

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
PSS008388 — — 1,140 individuals — Greater Middle Eastern (Middle Eastern, North African or Persian) Iran (Middle East) UKB —
PSS009284 — — 19,043 individuals — European UK (+ Ireland) UKB —
PSS012547 240,E01.0, E01.2, E04.0 —
[
  • 871 cases
  • , 17,080 controls
]
,
48.41 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012548 240,E01.0, E01.2, E04.0 —
[
  • 871 cases
  • , 17,080 controls
]
,
48.41 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012549 240,E01.0, E01.2, E04.0 —
[
  • 871 cases
  • , 17,080 controls
]
,
48.41 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012550 240,E01.0, E01.2, E04.0 —
[
  • 871 cases
  • , 17,080 controls
]
,
48.41 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012551 240,E01.0, E01.2, E04.0 —
[
  • 871 cases
  • , 17,080 controls
]
,
48.41 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012552 241.0,E04.1 —
[
  • 189 cases
  • , 17,080 controls
]
,
49.59 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012553 241.0,E04.1 —
[
  • 189 cases
  • , 17,080 controls
]
,
49.59 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012554 241.0,E04.1 —
[
  • 189 cases
  • , 17,080 controls
]
,
49.59 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012555 241.0,E04.1 —
[
  • 189 cases
  • , 17,080 controls
]
,
49.59 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012556 241.0,E04.1 —
[
  • 189 cases
  • , 17,080 controls
]
,
49.59 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012557 241.1,E01.1, E04.2 —
[
  • 246 cases
  • , 17,080 controls
]
,
49.46 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012558 241.1,E01.1, E04.2 —
[
  • 246 cases
  • , 17,080 controls
]
,
49.46 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012559 241.1,E01.1, E04.2 —
[
  • 246 cases
  • , 17,080 controls
]
,
49.46 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012560 241.1,E01.1, E04.2 —
[
  • 246 cases
  • , 17,080 controls
]
,
49.46 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS004560 — —
[
  • 84 cases
  • , 6,413 controls
]
 — African unspecified — UKB —
PSS004561 — —
[
  • 32 cases
  • , 1,672 controls
]
 — East Asian — UKB —
PSS004562 — —
[
  • 249 cases
  • , 24,656 controls
]
 — European non-white British ancestry UKB —
PSS004563 — —
[
  • 81 cases
  • , 7,750 controls
]
 — South Asian — UKB —
PSS004564 — —
[
  • 548 cases
  • , 66,877 controls
]
 — European white British ancestry UKB Testing cohort (heldout set)
PSS012561 241.1,E01.1, E04.2 —
[
  • 246 cases
  • , 17,080 controls
]
,
49.46 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012567 242.0,E05.0 —
[
  • 225 cases
  • , 17,080 controls
]
,
49.58 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012568 242.0,E05.0 —
[
  • 225 cases
  • , 17,080 controls
]
,
49.58 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012569 242.0,E05.0 —
[
  • 225 cases
  • , 17,080 controls
]
,
49.58 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012570 242.0,E05.0 —
[
  • 225 cases
  • , 17,080 controls
]
,
49.58 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS009058 — — 3,930 individuals — European Poland (NE Europe) UKB —
PSS012571 242.0,E05.0 —
[
  • 225 cases
  • , 17,080 controls
]
,
49.58 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012572 242.0,E05.0 —
[
  • 225 cases
  • , 17,080 controls
]
,
49.58 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS008166 — — 5,927 individuals — South Asian India (South Asia) UKB —
PSS008837 — — 3,830 individuals — African unspecified Nigeria (West Africa) UKB —
PSS007953 — — 1,744 individuals — East Asian China (East Asia) UKB —
PSS008612 — — 6,363 individuals — European Italy (South Europe) UKB —
PSS007734 — — 2,378 individuals — African American or Afro-Caribbean Carribean UKB —
PSS012069 Cases - ICD-9-CM codes: 193, V10.87, ICD-10-CM billing codes: C73, Z85.850, ICD-9 codes: 193, V10.87, ICD-10 codes: C73, SNOMED: 92767001 Carcinoma in situ of thyroid gland, 363478007 Malignant tumor of thyroid gland, 255028004 Follicular thyroid carcinoma, 423158009 Hurthle cell carcinoma of thyroid, 772992009 Primary differentiated carcinoma of thyroid gland. Controls - ICD-9-CM codes: 241 Nontoxic nodular goiter, 241.0 Nontoxic uninodular goiter, 241.1 Nontoxic multinodular goiter, 241.9 Unspecified nontoxic nodular goiter ICD-10-CM billing codes: E01.1 Iodine-deficiency related multinodular (endemic) goiter, E04.1 Nontoxic single thyroid nodule, E04.2 Nontoxic multinodular goiter, E04.8 Other specified nontoxic goiter, E04.9 Nontoxic goiter, unspecified, ICD-9-CM codes: 241 Nontoxic nodular goiter, 241.0 Nontoxic uninodular goiter, 241.1 Nontoxic multinodular goiter, 241.9 Unspecified nontoxic nodular goiter, ICD-10 codes: E01.1 Iodine-deficiency related multinodular (endemic) goiter, E04.1 Nontoxic single thyroid nodule, E04.2 Nontoxic multinodular goiter, E04.8 Other specified nontoxic goiter, E04.9 Nontoxic goiter, unspecified, SNOMED: 419153005 Nodular goiter, 190236006 Non-toxic nodular goiter, 66392007 Substernal goiter, 60968001 Adenomatous goiter — 94,651 individuals — African American or Afro-Caribbean, Hispanic or Latin American, European — CCPM —