Trait: birth weight

Experimental Factor Ontology (EFO) Information
Identifier EFO_0004344
Description The mass or quantity of heaviness of an individual at BIRTH. It is expressed by units of pounds or kilograms.
Trait category
Body measurement
Synonym birthweight
Mapped terms 3 mapped terms
  • MESH:D001724
  • NCIt:C76325
  • SNOMEDCT:364589006

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)
PGS001226
(GBE_INI20022)
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Birth weight birth weight 6,278
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001226/ScoringFiles/PGS001226.txt.gz
PGS001892
(portability-PLR_birth_weight)
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Birth weight birth weight 35,060
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001892/ScoringFiles/PGS001892.txt.gz
PGS002105
(portability-ldpred2_birth_weight)
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Birth weight birth weight 827,714
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002105/ScoringFiles/PGS002105.txt.gz
PGS003494
(cont-decay-birth_weight)
 PGP000457 |
Ding Y et al. bioRxiv (2022)
|Pre		 Birth weight birth weight 979,739
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003494/ScoringFiles/PGS003494.txt.gz
PGS004426
(X20022.score)
 PGP000561 |
Jung H et al. Commun Biol (2024)
 Birth weight birth weight 1,059,939
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004426/ScoringFiles/PGS004426.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
PPM008644 PGS001226
(GBE_INI20022)
 PSS004896|
African Ancestry|
1,708 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Birth weight — — R²: 0.04004 [0.0307, 0.04937]
Incremental R2 (full-covars): 0.00368
PGS R2 (no covariates): 0.00672 [0.00276, 0.01067]		 age, sex, UKB array type, Genotype PCs —
PPM008645 PGS001226
(GBE_INI20022)
 PSS004897|
East Asian Ancestry|
609 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Birth weight — — R²: 0.04464 [0.02551, 0.06377]
Incremental R2 (full-covars): 0.01768
PGS R2 (no covariates): 0.02148 [0.00789, 0.03508]		 age, sex, UKB array type, Genotype PCs —
PPM008646 PGS001226
(GBE_INI20022)
 PSS004898|
European Ancestry|
12,908 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Birth weight — — R²: 0.06034 [0.05461, 0.06608]
Incremental R2 (full-covars): 0.02543
PGS R2 (no covariates): 0.02732 [0.02333, 0.03131]		 age, sex, UKB array type, Genotype PCs —
PPM008647 PGS001226
(GBE_INI20022)
 PSS004899|
South Asian Ancestry|
1,908 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Birth weight — — R²: 0.04888 [0.03957, 0.05819]
Incremental R2 (full-covars): 0.00482
PGS R2 (no covariates): 0.00796 [0.00404, 0.01188]		 age, sex, UKB array type, Genotype PCs —
PPM008648 PGS001226
(GBE_INI20022)
 PSS004900|
European Ancestry|
39,107 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Birth weight — — R²: 0.05162 [0.04837, 0.05488]
Incremental R2 (full-covars): 0.02688
PGS R2 (no covariates): 0.02741 [0.02498, 0.02984]		 age, sex, UKB array type, Genotype PCs —
PPM010020 PGS001892
(portability-PLR_birth_weight)
 PSS009388|
European Ancestry|
11,255 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Birth weight — — Partial Correlation (partial-r): 0.1913 [0.1734, 0.209] sex, age, birth date, deprivation index, 16 PCs —
PPM010021 PGS001892
(portability-PLR_birth_weight)
 PSS009162|
European Ancestry|
2,139 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Birth weight — — Partial Correlation (partial-r): 0.1447 [0.1027, 0.1861] sex, age, birth date, deprivation index, 16 PCs —
PPM010022 PGS001892
(portability-PLR_birth_weight)
 PSS008716|
European Ancestry|
3,422 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Birth weight — — Partial Correlation (partial-r): 0.1639 [0.131, 0.1964] sex, age, birth date, deprivation index, 16 PCs —
PPM010023 PGS001892
(portability-PLR_birth_weight)
 PSS008490|
Greater Middle Eastern Ancestry|
303 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Birth weight — — Partial Correlation (partial-r): 0.1653 [0.0496, 0.2766] sex, age, birth date, deprivation index, 16 PCs —
PPM010024 PGS001892
(portability-PLR_birth_weight)
 PSS008268|
South Asian Ancestry|
1,505 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Birth weight — — Partial Correlation (partial-r): 0.1064 [0.0559, 0.1565] sex, age, birth date, deprivation index, 16 PCs —
PPM010025 PGS001892
(portability-PLR_birth_weight)
 PSS008046|
East Asian Ancestry|
714 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Birth weight — — Partial Correlation (partial-r): 0.1533 [0.0798, 0.2251] sex, age, birth date, deprivation index, 16 PCs —
PPM010027 PGS001892
(portability-PLR_birth_weight)
 PSS008936|
African Ancestry|
791 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Birth weight — — Partial Correlation (partial-r): 0.1149 [0.0447, 0.1841] sex, age, birth date, deprivation index, 16 PCs —
PPM010026 PGS001892
(portability-PLR_birth_weight)
 PSS007832|
African Ancestry|
840 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Birth weight — — Partial Correlation (partial-r): 0.0983 [0.03, 0.1656] sex, age, birth date, deprivation index, 16 PCs —
PPM011696 PGS002105
(portability-ldpred2_birth_weight)
 PSS009388|
European Ancestry|
11,255 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Birth weight — — Partial Correlation (partial-r): 0.2001 [0.1823, 0.2178] sex, age, birth date, deprivation index, 16 PCs —
PPM011697 PGS002105
(portability-ldpred2_birth_weight)
 PSS009162|
European Ancestry|
2,139 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Birth weight — — Partial Correlation (partial-r): 0.1536 [0.1118, 0.1949] sex, age, birth date, deprivation index, 16 PCs —
PPM011698 PGS002105
(portability-ldpred2_birth_weight)
 PSS008716|
European Ancestry|
3,422 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Birth weight — — Partial Correlation (partial-r): 0.1634 [0.1305, 0.1959] sex, age, birth date, deprivation index, 16 PCs —
PPM011699 PGS002105
(portability-ldpred2_birth_weight)
 PSS008490|
Greater Middle Eastern Ancestry|
303 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Birth weight — — Partial Correlation (partial-r): 0.2068 [0.0924, 0.3158] sex, age, birth date, deprivation index, 16 PCs —
PPM011701 PGS002105
(portability-ldpred2_birth_weight)
 PSS008046|
East Asian Ancestry|
714 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Birth weight — — Partial Correlation (partial-r): 0.197 [0.1244, 0.2675] sex, age, birth date, deprivation index, 16 PCs —
PPM011702 PGS002105
(portability-ldpred2_birth_weight)
 PSS007832|
African Ancestry|
840 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Birth weight — — Partial Correlation (partial-r): 0.0764 [0.008, 0.1441] sex, age, birth date, deprivation index, 16 PCs —
PPM011703 PGS002105
(portability-ldpred2_birth_weight)
 PSS008936|
African Ancestry|
791 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Birth weight — — Partial Correlation (partial-r): 0.1227 [0.0526, 0.1917] sex, age, birth date, deprivation index, 16 PCs —
PPM011700 PGS002105
(portability-ldpred2_birth_weight)
 PSS008268|
South Asian Ancestry|
1,505 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Birth weight — — Partial Correlation (partial-r): 0.113 [0.0625, 0.163] sex, age, birth date, deprivation index, 16 PCs —
PPM017422 PGS003494
(cont-decay-birth_weight)
 PSS010903|
European Ancestry|
11,297 individuals
 PGP000457 |
Ding Y et al. bioRxiv (2022)
|Pre		 Reported Trait: Birth weight — — partial-R2: 0.05 sex, age, deprivation index, PC1-16 —
PPM017506 PGS003494
(cont-decay-birth_weight)
 PSS010819|
European Ancestry|
2,136 individuals
 PGP000457 |
Ding Y et al. bioRxiv (2022)
|Pre		 Reported Trait: Birth weight — — partial-R2: 0.02 sex, age, deprivation index, PC1-16 —
PPM017590 PGS003494
(cont-decay-birth_weight)
 PSS010651|
European Ancestry|
3,340 individuals
 PGP000457 |
Ding Y et al. bioRxiv (2022)
|Pre		 Reported Trait: Birth weight — — partial-R2: 0.02 sex, age, deprivation index, PC1-16 —
PPM017674 PGS003494
(cont-decay-birth_weight)
 PSS010567|
Greater Middle Eastern Ancestry|
303 individuals
 PGP000457 |
Ding Y et al. bioRxiv (2022)
|Pre		 Reported Trait: Birth weight — — partial-R2: 0.04 sex, age, deprivation index, PC1-16 —
PPM017842 PGS003494
(cont-decay-birth_weight)
 PSS010483|
South Asian Ancestry|
1,501 individuals
 PGP000457 |
Ding Y et al. bioRxiv (2022)
|Pre		 Reported Trait: Birth weight — — partial-R2: 0.01 sex, age, deprivation index, PC1-16 —
PPM017926 PGS003494
(cont-decay-birth_weight)
 PSS010399|
East Asian Ancestry|
713 individuals
 PGP000457 |
Ding Y et al. bioRxiv (2022)
|Pre		 Reported Trait: Birth weight — — partial-R2: 0.03 sex, age, deprivation index, PC1-16 —
PPM018010 PGS003494
(cont-decay-birth_weight)
 PSS010315|
African Ancestry|
838 individuals
 PGP000457 |
Ding Y et al. bioRxiv (2022)
|Pre		 Reported Trait: Birth weight — — partial-R2: 0.01 sex, age, deprivation index, PC1-16 —
PPM017758 PGS003494
(cont-decay-birth_weight)
 PSS010231|
European Ancestry|
1,260 individuals
 PGP000457 |
Ding Y et al. bioRxiv (2022)
|Pre		 Reported Trait: Birth weight — — partial-R2: 0.04 sex, age, deprivation index, PC1-16 —
PPM018094 PGS003494
(cont-decay-birth_weight)
 PSS010735|
African Ancestry|
785 individuals
 PGP000457 |
Ding Y et al. bioRxiv (2022)
|Pre		 Reported Trait: Birth weight — — partial-R2: 0.01 sex, age, deprivation index, PC1-16 —
PPM020541 PGS004426
(X20022.score)
 PSS011364|
European Ancestry|
56,192 individuals
 PGP000561 |
Jung H et al. Commun Biol (2024)
 Reported Trait: Birth weight — — PGS R2 (no covariates): 0.13912 — —

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
PSS010399 — — 713 individuals,
27.0 % Male samples
 Mean = 50.5 years
Sd = 7.2 years		 East Asian Chinese UKB —
PSS009162 — — 2,139 individuals — European Poland (NE Europe) UKB —
PSS008268 — — 1,505 individuals — South Asian India (South Asia) UKB —
PSS008936 — — 791 individuals — African unspecified Nigeria (West Africa) UKB —
PSS010819 — — 2,136 individuals,
34.0 % Male samples
 Mean = 52.8 years
Sd = 7.2 years		 European Polish UKB —
PSS010567 — — 303 individuals,
55.0 % Male samples
 Mean = 51.1 years
Sd = 7.8 years		 Greater Middle Eastern (Middle Eastern, North African or Persian) Iranian UKB —
PSS008046 — — 714 individuals — East Asian China (East Asia) UKB —
PSS010315 — — 838 individuals,
34.0 % Male samples
 Mean = 50.5 years
Sd = 7.6 years		 African American or Afro-Caribbean Caribbean UKB —
PSS008716 — — 3,422 individuals — European Italy (South Europe) UKB —
PSS010735 — — 785 individuals,
39.0 % Male samples
 Mean = 50.4 years
Sd = 8.0 years		 African unspecified Nigerian UKB —
PSS007832 — — 840 individuals — African American or Afro-Caribbean Carribean UKB —
PSS010483 — — 1,501 individuals,
49.0 % Male samples
 Mean = 51.1 years
Sd = 8.2 years		 South Asian Indian UKB —
PSS010231 — — 1,260 individuals,
39.0 % Male samples
 Mean = 57.0 years
Sd = 7.2 years		 European Ashkenazi UKB —
PSS011364 — — 56,192 individuals — European — UKB —
PSS004896 — — 1,708 individuals — African unspecified — UKB —
PSS004897 — — 609 individuals — East Asian — UKB —
PSS004898 — — 12,908 individuals — European non-white British ancestry UKB —
PSS004899 — — 1,908 individuals — South Asian — UKB —
PSS004900 — — 39,107 individuals — European white British ancestry UKB Testing cohort (heldout set)
PSS009388 — — 11,255 individuals — European UK (+ Ireland) UKB —
PSS008490 — — 303 individuals — Greater Middle Eastern (Middle Eastern, North African or Persian) Iran (Middle East) UKB —
PSS010903 — — 11,297 individuals,
39.0 % Male samples
 Mean = 55.5 years
Sd = 8.0 years		 European white British UKB —
PSS010651 — — 3,340 individuals,
39.0 % Male samples
 Mean = 52.8 years
Sd = 8.2 years		 European Italian UKB —