Trait: serum alanine aminotransferase amount

Trait Information
Identifier OBA_2050062
Description The amount of a alanine aminotransferase when measured in blood serum. [AUTO: patterns/patterns/entity_attribute_location]
Trait category
Other measurement
Synonyms 3 synonyms
  • alanine aminotransferase amount in blood serum
  • blood serum alanine aminotransferase amount
  • serum alanine aminotransferase level

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
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)
PGS000668
(snpnet.Alanine_aminotransferase)
PGP000128 |
Sinnott-Armstrong N et al. Nat Genet (2021)
Alanine aminotransferase [U/L] serum alanine aminotransferase amount 12,076
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000668/ScoringFiles/PGS000668.txt.gz - Check Terms/Licenses
PGS000816
(GRS150_ALT)
PGP000201 |
Pazoki R et al. Nat Commun (2021)
Alanine transaminase serum alanine aminotransferase amount 150
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000816/ScoringFiles/PGS000816.txt.gz
PGS001940
(portability-PLR_log_ALT)
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Alanine aminotransferase serum alanine aminotransferase amount 51,849
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001940/ScoringFiles/PGS001940.txt.gz
PGS002158
(portability-ldpred2_log_ALT)
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Alanine aminotransferase serum alanine aminotransferase amount 774,274
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002158/ScoringFiles/PGS002158.txt.gz
PGS002732
(GRS_77)
PGP000341 |
Vujkovic M et al. Nat Genet (2022)
Chronic elevation of alanine aminotransferase serum alanine aminotransferase amount 77
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002732/ScoringFiles/PGS002732.txt.gz
PGS003342
(CVGRS_ALT)
PGP000405 |
Kim YJ et al. Nat Commun (2022)
Alanine aminotransferase level serum alanine aminotransferase amount 51
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003342/ScoringFiles/PGS003342.txt.gz
PGS003351
(ALLGRS_ALT)
PGP000405 |
Kim YJ et al. Nat Commun (2022)
Alanine aminotransferase level serum alanine aminotransferase amount 57
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003351/ScoringFiles/PGS003351.txt.gz
PGS003522
(cont-decay-log_ALT)
PGP000457 |
Ding Y et al. Nature (2023)
Alanine aminotransferase serum alanine aminotransferase amount 979,739
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003522/ScoringFiles/PGS003522.txt.gz
PGS004329
(X30620.score)
PGP000561 |
Jung H et al. Commun Biol (2024)
Alanine aminotransferase (U/L) serum alanine aminotransferase amount 1,059,939
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004329/ScoringFiles/PGS004329.txt.gz
PGS004715
(ALT_PRSmix_eur)
PGP000604 |
Truong B et al. Cell Genom (2024)
Alanine aminotransferase serum alanine aminotransferase amount 559,731
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004715/ScoringFiles/PGS004715.txt.gz
PGS004716
(ALT_PRSmix_sas)
PGP000604 |
Truong B et al. Cell Genom (2024)
Alanine aminotransferase serum alanine aminotransferase amount 2,283,693
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004716/ScoringFiles/PGS004716.txt.gz
PGS004717
(ALT_PRSmixPlus_eur)
PGP000604 |
Truong B et al. Cell Genom (2024)
Alanine aminotransferase serum alanine aminotransferase amount 1,051,633
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004717/ScoringFiles/PGS004717.txt.gz
PGS004718
(ALT_PRSmixPlus_sas)
PGP000604 |
Truong B et al. Cell Genom (2024)
Alanine aminotransferase serum alanine aminotransferase amount 2,283,693
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004718/ScoringFiles/PGS004718.txt.gz
PGS019789
(TPMI_ALT_Lassosum2)
PGP000835 |
Chen HH et al. Nature (2025)
Serum glutamate pyruvate transaminase serum alanine aminotransferase amount 15,260
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019789/ScoringFiles/PGS019789.txt.gz
PGS019813
(TPMI_ALT_LDPred2)
PGP000835 |
Chen HH et al. Nature (2025)
Serum glutamate pyruvate transaminase serum alanine aminotransferase amount 939,836
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019813/ScoringFiles/PGS019813.txt.gz
PGS019837
(TPMI_ALT_PRS-CS)
PGP000835 |
Chen HH et al. Nature (2025)
Serum glutamate pyruvate transaminase serum alanine aminotransferase amount 983,787
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019837/ScoringFiles/PGS019837.txt.gz
PGS019861
(TPMI_ALT_SBayesR)
PGP000835 |
Chen HH et al. Nature (2025)
Serum glutamate pyruvate transaminase serum alanine aminotransferase amount 143,622
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019861/ScoringFiles/PGS019861.txt.gz
PGS019885
(TPMI_ALT_MegaPRS)
PGP000835 |
Chen HH et al. Nature (2025)
Serum glutamate pyruvate transaminase serum alanine aminotransferase amount 367,008
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019885/ScoringFiles/PGS019885.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
PPM001466 PGS000668
(snpnet.Alanine_aminotransferase)
PSS000624|
European Ancestry|
23,569 individuals
PGP000128 |
Sinnott-Armstrong N et al. Nat Genet (2021)
Reported Trait: Alanine aminotransferase [U/L] — — R²: 0.2041
Spearman's ρ: 0.22
Age, sex, PCs(1-40) —
PPM001501 PGS000668
(snpnet.Alanine_aminotransferase)
PSS000625|
South Asian Ancestry|
7,325 individuals
PGP000128 |
Sinnott-Armstrong N et al. Nat Genet (2021)
Reported Trait: Alanine aminotransferase [U/L] — — R²: 0.18304
Spearman's ρ: 0.198
Age, sex, PCs(1-40) —
PPM001536 PGS000668
(snpnet.Alanine_aminotransferase)
PSS000626|
European Ancestry|
63,766 individuals
PGP000128 |
Sinnott-Armstrong N et al. Nat Genet (2021)
Reported Trait: Alanine aminotransferase [U/L] — — R²: 0.19165
Spearman's ρ: 0.244
Age, sex, PCs(1-40) —
PPM001396 PGS000668
(snpnet.Alanine_aminotransferase)
PSS000622|
African Ancestry|
6,017 individuals
PGP000128 |
Sinnott-Armstrong N et al. Nat Genet (2021)
Reported Trait: Alanine aminotransferase [U/L] — — R²: 0.17646
Spearman's ρ: 0.092
Age, sex, PCs(1-40) —
PPM001431 PGS000668
(snpnet.Alanine_aminotransferase)
PSS000623|
East Asian Ancestry|
1,081 individuals
PGP000128 |
Sinnott-Armstrong N et al. Nat Genet (2021)
Reported Trait: Alanine aminotransferase [U/L] — — R²: 0.1561
Spearman's ρ: 0.145
Age, sex, PCs(1-40) —
PPM007267 PGS000668
(snpnet.Alanine_aminotransferase)
PSS007078|
European Ancestry|
23,758 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
|Ext.
Reported Trait: Alanine aminotransferase — — R²: 0.07978 [0.07332, 0.08623]
Incremental R2 (full-covars): 0.00218
PGS R2 (no covariates): 0.03 [0.02583, 0.03418]
age, sex, UKB array type, Genotype PCs —
PPM007265 PGS000668
(snpnet.Alanine_aminotransferase)
PSS007076|
African Ancestry|
6,099 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
|Ext.
Reported Trait: Alanine aminotransferase — — R²: 0.0977 [0.084, 0.11141]
Incremental R2 (full-covars): 0.00077
PGS R2 (no covariates): 0.00447 [0.00124, 0.00771]
age, sex, UKB array type, Genotype PCs —
PPM007266 PGS000668
(snpnet.Alanine_aminotransferase)
PSS007077|
East Asian Ancestry|
1,615 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
|Ext.
Reported Trait: Alanine aminotransferase — — R²: 0.08994 [0.06408, 0.11581]
Incremental R2 (full-covars): 0.00177
PGS R2 (no covariates): 0.02382 [0.00954, 0.03809]
age, sex, UKB array type, Genotype PCs —
PPM007268 PGS000668
(snpnet.Alanine_aminotransferase)
PSS007079|
South Asian Ancestry|
7,414 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
|Ext.
Reported Trait: Alanine aminotransferase — — R²: 0.08504 [0.07323, 0.09685]
Incremental R2 (full-covars): 0.00213
PGS R2 (no covariates): 0.02862 [0.02135, 0.0359]
age, sex, UKB array type, Genotype PCs —
PPM007269 PGS000668
(snpnet.Alanine_aminotransferase)
PSS007080|
European Ancestry|
64,440 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
|Ext.
Reported Trait: Alanine aminotransferase — — R²: 0.06901 [0.06532, 0.0727]
Incremental R2 (full-covars): 0.00284
PGS R2 (no covariates): 0.03994 [0.03705, 0.04284]
age, sex, UKB array type, Genotype PCs —
PPM038753 PGS000668
(snpnet.Alanine_aminotransferase)
PSS013916|
European Ancestry|
425,240 individuals
PGP000865 |
Bhatt IS et al. J Assoc Res Otolaryngol (2024)
|Ext.
Reported Trait: Age-related hearing difficulty β: 0.01835 — — — —
PPM002176 PGS000816
(GRS150_ALT)
PSS001062|
European Ancestry|
3,620 individuals
PGP000201 |
Pazoki R et al. Nat Commun (2021)
Reported Trait: Serum alanine transaminase level OR: 1.72 [1.36, 2.07] — — — —
PPM002173 PGS000816
(GRS150_ALT)
PSS001060|
European Ancestry|
331 individuals
PGP000201 |
Pazoki R et al. Nat Commun (2021)
Reported Trait: Serum alanine transaminase level β: 3.09 [2.02, 4.17] — — — Unit of measurement = U/L in alanine transaminase
PPM010396 PGS001940
(portability-PLR_log_ALT)
PSS009201|
European Ancestry|
3,950 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Alanine aminotransferase — — Partial Correlation (partial-r): 0.2328 [0.203, 0.2622] sex, age, birth date, deprivation index, 16 PCs —
PPM010397 PGS001940
(portability-PLR_log_ALT)
PSS008755|
European Ancestry|
6,321 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Alanine aminotransferase — — Partial Correlation (partial-r): 0.2248 [0.2012, 0.2481] sex, age, birth date, deprivation index, 16 PCs —
PPM010399 PGS001940
(portability-PLR_log_ALT)
PSS008307|
South Asian Ancestry|
5,992 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Alanine aminotransferase — — Partial Correlation (partial-r): 0.2205 [0.1963, 0.2445] sex, age, birth date, deprivation index, 16 PCs —
PPM010400 PGS001940
(portability-PLR_log_ALT)
PSS008084|
East Asian Ancestry|
1,716 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Alanine aminotransferase — — Partial Correlation (partial-r): 0.1841 [0.1377, 0.2297] sex, age, birth date, deprivation index, 16 PCs —
PPM010401 PGS001940
(portability-PLR_log_ALT)
PSS007871|
African Ancestry|
2,345 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Alanine aminotransferase — — Partial Correlation (partial-r): 0.1008 [0.0604, 0.1409] sex, age, birth date, deprivation index, 16 PCs —
PPM010402 PGS001940
(portability-PLR_log_ALT)
PSS008975|
African Ancestry|
3,656 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Alanine aminotransferase — — Partial Correlation (partial-r): 0.1054 [0.0731, 0.1374] sex, age, birth date, deprivation index, 16 PCs —
PPM010395 PGS001940
(portability-PLR_log_ALT)
PSS009427|
European Ancestry|
18,995 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Alanine aminotransferase — — Partial Correlation (partial-r): 0.2633 [0.25, 0.2765] sex, age, birth date, deprivation index, 16 PCs —
PPM010398 PGS001940
(portability-PLR_log_ALT)
PSS008529|
Greater Middle Eastern Ancestry|
1,123 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Alanine aminotransferase — — Partial Correlation (partial-r): 0.1871 [0.1295, 0.2435] sex, age, birth date, deprivation index, 16 PCs —
PPM038771 PGS001940
(portability-PLR_log_ALT)
PSS013916|
European Ancestry|
425,240 individuals
PGP000865 |
Bhatt IS et al. J Assoc Res Otolaryngol (2024)
|Ext.
Reported Trait: Age-related hearing difficulty β: 0.01765 — — — —
PPM012112 PGS002158
(portability-ldpred2_log_ALT)
PSS009201|
European Ancestry|
3,950 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Alanine aminotransferase — — Partial Correlation (partial-r): 0.2355 [0.2058, 0.2648] sex, age, birth date, deprivation index, 16 PCs —
PPM012111 PGS002158
(portability-ldpred2_log_ALT)
PSS009427|
European Ancestry|
18,995 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Alanine aminotransferase — — Partial Correlation (partial-r): 0.2622 [0.2489, 0.2754] sex, age, birth date, deprivation index, 16 PCs —
PPM012113 PGS002158
(portability-ldpred2_log_ALT)
PSS008755|
European Ancestry|
6,321 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Alanine aminotransferase — — Partial Correlation (partial-r): 0.2258 [0.2022, 0.2491] sex, age, birth date, deprivation index, 16 PCs —
PPM012114 PGS002158
(portability-ldpred2_log_ALT)
PSS008529|
Greater Middle Eastern Ancestry|
1,123 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Alanine aminotransferase — — Partial Correlation (partial-r): 0.1997 [0.1423, 0.2557] sex, age, birth date, deprivation index, 16 PCs —
PPM012115 PGS002158
(portability-ldpred2_log_ALT)
PSS008307|
South Asian Ancestry|
5,992 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Alanine aminotransferase — — Partial Correlation (partial-r): 0.2086 [0.1842, 0.2328] sex, age, birth date, deprivation index, 16 PCs —
PPM012116 PGS002158
(portability-ldpred2_log_ALT)
PSS008084|
East Asian Ancestry|
1,716 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Alanine aminotransferase — — Partial Correlation (partial-r): 0.194 [0.1478, 0.2394] sex, age, birth date, deprivation index, 16 PCs —
PPM012117 PGS002158
(portability-ldpred2_log_ALT)
PSS007871|
African Ancestry|
2,345 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Alanine aminotransferase — — Partial Correlation (partial-r): 0.1063 [0.0659, 0.1463] sex, age, birth date, deprivation index, 16 PCs —
PPM012118 PGS002158
(portability-ldpred2_log_ALT)
PSS008975|
African Ancestry|
3,656 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Alanine aminotransferase — — Partial Correlation (partial-r): 0.088 [0.0557, 0.1202] sex, age, birth date, deprivation index, 16 PCs —
PPM038777 PGS002158
(portability-ldpred2_log_ALT)
PSS013916|
European Ancestry|
425,240 individuals
PGP000865 |
Bhatt IS et al. J Assoc Res Otolaryngol (2024)
|Ext.
Reported Trait: Age-related hearing difficulty β: 0.01742 — — — —
PPM014820 PGS002732
(GRS_77)
PSS009901|
Multi-ancestry (including European)|
45,007 individuals
PGP000341 |
Vujkovic M et al. Nat Genet (2022)
Reported Trait: Non-alcoholic fatty liver disease — — Risk difference: 0.604 [0.418, 0.79] age, gender, 3-5 ancestry PCs —
PPM022311 PGS002732
(GRS_77)
PSS011911|
Multi-ancestry (including European)|
48,603 individuals
PGP000701 |
Loesch DP et al. Nat Commun (2025)
|Ext.
Reported Trait: non-alcoholic fattly liver disease OR: 1.31 [1.21, 1.41] — — age, age^2, sex, UKB centre, array, genetic PCS 1-20 —
PPM022322 PGS002732
(GRS_77)
PSS011912|
European Ancestry|
45,356 individuals
PGP000701 |
Loesch DP et al. Nat Commun (2025)
|Ext.
Reported Trait: non-alcoholic fattly liver disease OR: 1.31 [1.21, 1.42] — — age, age^2, sex, UKB centre, array, genetic PCS 1-20 —
PPM016181 PGS003342
(CVGRS_ALT)
PSS010055|
East Asian Ancestry|
22,608 individuals
PGP000405 |
Kim YJ et al. Nat Commun (2022)
Reported Trait: Alanine aminotransferase level β: 0.1213 — — — —
PPM016198 PGS003342
(CVGRS_ALT)
PSS010055|
East Asian Ancestry|
22,608 individuals
PGP000405 |
Kim YJ et al. Nat Commun (2022)
Reported Trait: Type 2 diabetes OR: 1.04754 — — — —
PPM016190 PGS003351
(ALLGRS_ALT)
PSS010055|
East Asian Ancestry|
22,608 individuals
PGP000405 |
Kim YJ et al. Nat Commun (2022)
Reported Trait: Alanine aminotransferase level β: 0.16161 — — — —
PPM017450 PGS003522
(cont-decay-log_ALT)
PSS010885|
European Ancestry|
19,106 individuals
PGP000457 |
Ding Y et al. Nature (2023)
Reported Trait: Alanine aminotransferase — — partial-R2: 0.07 sex, age, deprivation index, PC1-16 —
PPM017534 PGS003522
(cont-decay-log_ALT)
PSS010801|
European Ancestry|
3,939 individuals
PGP000457 |
Ding Y et al. Nature (2023)
Reported Trait: Alanine aminotransferase — — partial-R2: 0.05 sex, age, deprivation index, PC1-16 —
PPM017702 PGS003522
(cont-decay-log_ALT)
PSS010549|
Greater Middle Eastern Ancestry|
1,094 individuals
PGP000457 |
Ding Y et al. Nature (2023)
Reported Trait: Alanine aminotransferase — — partial-R2: 0.04 sex, age, deprivation index, PC1-16 —
PPM017786 PGS003522
(cont-decay-log_ALT)
PSS010213|
European Ancestry|
2,238 individuals
PGP000457 |
Ding Y et al. Nature (2023)
Reported Trait: Alanine aminotransferase — — partial-R2: 0.07 sex, age, deprivation index, PC1-16 —
PPM017870 PGS003522
(cont-decay-log_ALT)
PSS010465|
South Asian Ancestry|
5,938 individuals
PGP000457 |
Ding Y et al. Nature (2023)
Reported Trait: Alanine aminotransferase — — partial-R2: 0.04 sex, age, deprivation index, PC1-16 —
PPM017954 PGS003522
(cont-decay-log_ALT)
PSS010381|
East Asian Ancestry|
1,705 individuals
PGP000457 |
Ding Y et al. Nature (2023)
Reported Trait: Alanine aminotransferase — — partial-R2: 0.03 sex, age, deprivation index, PC1-16 —
PPM018038 PGS003522
(cont-decay-log_ALT)
PSS010297|
African Ancestry|
2,333 individuals
PGP000457 |
Ding Y et al. Nature (2023)
Reported Trait: Alanine aminotransferase — — partial-R2: 0.01 sex, age, deprivation index, PC1-16 —
PPM018122 PGS003522
(cont-decay-log_ALT)
PSS010717|
African Ancestry|
3,627 individuals
PGP000457 |
Ding Y et al. Nature (2023)
Reported Trait: Alanine aminotransferase — — partial-R2: 0.01 sex, age, deprivation index, PC1-16 —
PPM017618 PGS003522
(cont-decay-log_ALT)
PSS010633|
European Ancestry|
6,169 individuals
PGP000457 |
Ding Y et al. Nature (2023)
Reported Trait: Alanine aminotransferase — — partial-R2: 0.05 sex, age, deprivation index, PC1-16 —
PPM020444 PGS004329
(X30620.score)
PSS011364|
European Ancestry|
56,192 individuals
PGP000561 |
Jung H et al. Commun Biol (2024)
Reported Trait: Alanine aminotransferase (U/L) — — PGS R2 (no covariates): 0.17221 — —
PPM020940 PGS004715
(ALT_PRSmix_eur)
PSS011457|
European Ancestry|
5,247 individuals
PGP000604 |
Truong B et al. Cell Genom (2024)
Reported Trait: Alanine aminotransferase — — Incremental R2 (Full model versus model with only covariates): 0.013 [0.007, 0.019] age, sex, PC1, PC2, PC3, PC4, PC5, PC6, PC7, PC8, PC9, PC10 Incremental R2 (Full model versus model with only covariates)
PPM020941 PGS004716
(ALT_PRSmix_sas)
PSS011458|
South Asian Ancestry|
6,794 individuals
PGP000604 |
Truong B et al. Cell Genom (2024)
Reported Trait: Alanine aminotransferase — — Incremental R2 (Full model versus model with only covariates): 0.03 [0.022, 0.038] age, sex, PC1, PC2, PC3, PC4, PC5, PC6, PC7, PC8, PC9, PC10 Incremental R2 (Full model versus model with only covariates)
PPM020942 PGS004717
(ALT_PRSmixPlus_eur)
PSS011457|
European Ancestry|
5,247 individuals
PGP000604 |
Truong B et al. Cell Genom (2024)
Reported Trait: Alanine aminotransferase — — Incremental R2 (Full model versus model with only covariates): 0.041 [0.03, 0.052] age, sex, PC1, PC2, PC3, PC4, PC5, PC6, PC7, PC8, PC9, PC10 Incremental R2 (Full model versus model with only covariates)
PPM020943 PGS004718
(ALT_PRSmixPlus_sas)
PSS011458|
South Asian Ancestry|
6,794 individuals
PGP000604 |
Truong B et al. Cell Genom (2024)
Reported Trait: Alanine aminotransferase — — Incremental R2 (Full model versus model with only covariates): 0.031 [0.023, 0.039] age, sex, PC1, PC2, PC3, PC4, PC5, PC6, PC7, PC8, PC9, PC10 Incremental R2 (Full model versus model with only covariates)
PPM037971 PGS019789
(TPMI_ALT_Lassosum2)
PSS013691|
East Asian Ancestry|
14,357 individuals
PGP000835 |
Chen HH et al. Nature (2025)
Reported Trait: Serum glutamate pyruvate transaminase — AUROC: 0.57287 R²: 0.04167 sex, age, array, PCs 1-10 —
PPM037995 PGS019813
(TPMI_ALT_LDPred2)
PSS013690|
East Asian Ancestry|
14,357 individuals
PGP000835 |
Chen HH et al. Nature (2025)
Reported Trait: Serum glutamate pyruvate transaminase — AUROC: 0.78939 R²: 0.04462 sex, age, array, PCs 1-10 —
PPM038019 PGS019837
(TPMI_ALT_PRS-CS)
PSS013693|
East Asian Ancestry|
14,357 individuals
PGP000835 |
Chen HH et al. Nature (2025)
Reported Trait: Serum glutamate pyruvate transaminase — AUROC: 0.67402 R²: 0.04349 sex, age, array, PCs 1-10 —
PPM038043 PGS019861
(TPMI_ALT_SBayesR)
PSS013694|
East Asian Ancestry|
14,357 individuals
PGP000835 |
Chen HH et al. Nature (2025)
Reported Trait: Serum glutamate pyruvate transaminase — — R²: 0.0322 sex, age, array, PCs 1-10 —
PPM038067 PGS019885
(TPMI_ALT_MegaPRS)
PSS013692|
East Asian Ancestry|
14,357 individuals
PGP000835 |
Chen HH et al. Nature (2025)
Reported Trait: Serum glutamate pyruvate transaminase — — R²: 0.03914 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
PSS013693 — — 14,357 individuals,
46.65 % Male samples
— East Asian
(Han Chinese)
— TPMI —
PSS013694 — — 14,357 individuals,
46.65 % Male samples
— East Asian
(Han Chinese)
— TPMI —
PSS008529 — — 1,123 individuals — Greater Middle Eastern (Middle Eastern, North African or Persian) Iran (Middle East) UKB —
PSS011457 — — 5,247 individuals — European — AllofUs —
PSS009427 — — 18,995 individuals — European UK (+ Ireland) UKB —
PSS011458 — — 6,794 individuals — South Asian — G&H —
PSS010055 — — 22,608 individuals — East Asian — KBA, KoGES —
PSS010801 — — 3,939 individuals,
38.0 % Male samples
Mean = 54.4 years
Sd = 7.5 years
European Polish UKB —
PSS010549 — — 1,094 individuals,
60.0 % Male samples
Mean = 51.9 years
Sd = 7.9 years
Greater Middle Eastern (Middle Eastern, North African or Persian) Iranian UKB —
PSS010297 — — 2,333 individuals,
37.0 % Male samples
Mean = 52.5 years
Sd = 8.1 years
African American or Afro-Caribbean Caribbean UKB —
PSS009201 — — 3,950 individuals — European Poland (NE Europe) UKB —
PSS008307 — — 5,992 individuals — South Asian India (South Asia) UKB —
PSS010717 — — 3,627 individuals,
46.0 % Male samples
Mean = 51.9 years
Sd = 8.1 years
African unspecified Nigerian UKB —
PSS010465 — — 5,938 individuals,
54.0 % Male samples
Mean = 53.3 years
Sd = 8.4 years
South Asian Indian UKB —
PSS000622 — — 6,017 individuals — African unspecified — UKB —
PSS000623 — — 1,081 individuals — East Asian — UKB —
PSS000624 — — 23,569 individuals — European Non-British White UKB —
PSS000625 — — 7,325 individuals — South Asian — UKB —
PSS000626 — — 63,766 individuals — European
(British)
— UKB —
PSS008975 — — 3,656 individuals — African unspecified Nigeria (West Africa) UKB —
PSS011911 ICD10: E11 for T2D, N18 for CKD, first occurence of I20-125 for CAD. BMI: baseline body mass index Median = 14.8 years 48,603 individuals,
46.0 % Male samples
Mean = 56.8 years
Sd = 8.2 years
European, East Asian, South Asian, Hispanic or Latin American, African unspecified — UKB —
PSS011912 ICD10: E11 for T2D, N18 for CKD, first occurence of I20-125 for CAD, K76.0 for NAFLD. BMI: baseline body mass index Median = 14.8 years 45,356 individuals,
46.0 % Male samples
Mean = 57.1 years
Sd = 8.1 years
European — UKB —
PSS010213 — — 2,238 individuals,
45.0 % Male samples
Mean = 58.1 years
Sd = 7.1 years
European Ashkenazi UKB —
PSS008084 — — 1,716 individuals — East Asian China (East Asia) UKB —
PSS011364 — — 56,192 individuals — European — UKB —
PSS009901 — —
[
  • 2,829 cases
  • , 41,391 controls
]
— European U.S. BioVU, CAP, EPOS PIVENS, FLINT, NASH
PSS009901 — —
[
  • 444 cases
  • , 343 controls
]
— Hispanic or Latin American U.S. NR LQTS, NASH
PSS007076 — — 6,099 individuals — African unspecified — UKB —
PSS007077 — — 1,615 individuals — East Asian — UKB —
PSS007078 — — 23,758 individuals — European non-white British ancestry UKB —
PSS007079 — — 7,414 individuals — South Asian — UKB —
PSS007080 — — 64,440 individuals — European white British ancestry UKB Testing cohort (heldout set)
PSS001062 Serum concentrations of alanine transaminase (ALT), alkaline phosphatase (ALP), and gamma-glutamyl transferase (GGT) were measured from stored blood samples using the enzymatic rate analytical method on a Beckman Coulter AU5800. The manufacturer’s analytic range for ALT was 3–500 U/L, for ALP, 5–1500 U/L, and it was 5–1200 U/L for GGT. — 3,620 individuals — European — NFBC —
PSS001060 Serum concentrations of alanine transaminase (ALT) and alkaline phosphatase (ALP), were measured from stored blood samples using the enzymatic rate analytical method on a Beckman Coulter AU5800. The manufacturer’s analytic range for ALT was 3–500 U/L, for ALP, 5–1500 U/L, and it was 5–1200 U/L for GGT. — 331 individuals — European — Airwave —
PSS008755 — — 6,321 individuals — European Italy (South Europe) UKB —
PSS010885 — — 19,106 individuals,
46.0 % Male samples
Mean = 56.9 years
Sd = 7.9 years
European white British UKB —
PSS010381 — — 1,705 individuals,
33.0 % Male samples
Mean = 52.4 years
Sd = 7.8 years
East Asian Chinese UKB —
PSS010633 — — 6,169 individuals,
45.0 % Male samples
Mean = 54.5 years
Sd = 8.4 years
European Italian UKB —
PSS007871 — — 2,345 individuals — African American or Afro-Caribbean Carribean UKB —
PSS013916 — —
[
  • 111,243 cases
  • , 313,997 controls
]
,
46.21 % Male samples
— European
(British, Irish)
— UKB —
PSS013690 — — 14,357 individuals,
46.65 % Male samples
— East Asian
(Han Chinese)
— TPMI —
PSS013691 — — 14,357 individuals,
46.65 % Male samples
— East Asian
(Han Chinese)
— TPMI —
PSS013692 — — 14,357 individuals,
46.65 % Male samples
— East Asian
(Han Chinese)
— TPMI —