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.Show more
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
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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 weightbirth weight6,278
-
D
E
 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 weightbirth weight35,060
-
D
E
 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 weightbirth weight827,714
-
D
E
 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 weightbirth weight979,739
-
D
E
 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 weightbirth weight1,059,939
-
D
E
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004426/ScoringFiles/PGS004426.txt.gz
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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.

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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
PPM008644PGS001226
(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—
PPM008645PGS001226
(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—
PPM008646PGS001226
(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—
PPM008647PGS001226
(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—
PPM008648PGS001226
(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—
PPM010020PGS001892
(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—
PPM010021PGS001892
(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—
PPM010022PGS001892
(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—
PPM010023PGS001892
(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—
PPM010024PGS001892
(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—
PPM010025PGS001892
(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—
PPM010026PGS001892
(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—
PPM010027PGS001892
(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—
PPM011696PGS002105
(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—
PPM011697PGS002105
(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—
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Evaluated Samples

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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
PSS004896——1,708 individuals—African unspecified—UKB—
PSS004897——609 individuals—East Asian—UKB—
PSS004898——12,908 individuals—Europeannon-white British ancestryUKB—
PSS004899——1,908 individuals—South Asian—UKB—
PSS004900——39,107 individuals—Europeanwhite British ancestryUKBTesting cohort (heldout set)
PSS007832——840 individuals—African American or Afro-CaribbeanCarribeanUKB—
PSS008046——714 individuals—East AsianChina (East Asia)UKB—
PSS008268——1,505 individuals—South AsianIndia (South Asia)UKB—
PSS008490——303 individuals—Greater Middle Eastern (Middle Eastern, North African or Persian)Iran (Middle East)UKB—
PSS008716——3,422 individuals—EuropeanItaly (South Europe)UKB—
PSS008936——791 individuals—African unspecifiedNigeria (West Africa)UKB—
PSS009162——2,139 individuals—EuropeanPoland (NE Europe)UKB—
PSS009388——11,255 individuals—EuropeanUK (+ Ireland)UKB—
PSS010231——1,260 individuals,
39.0 % Male samples
Mean = 57.0 years
Sd = 7.2 years		EuropeanAshkenaziUKB—
PSS010315——838 individuals,
34.0 % Male samples
Mean = 50.5 years
Sd = 7.6 years		African American or Afro-CaribbeanCaribbeanUKB—
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