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 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

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 : 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 : 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 : 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 : 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 : 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

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
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
PSS009162 2,139 individuals European Poland (NE Europe) UKB
PSS008716 3,422 individuals European Italy (South Europe) UKB
PSS008490 303 individuals Greater Middle Eastern (Middle Eastern, North African or Persian) Iran (Middle East) UKB
PSS008268 1,505 individuals South Asian India (South Asia) UKB
PSS008046 714 individuals East Asian China (East Asia) UKB
PSS008936 791 individuals African unspecified Nigeria (West Africa) UKB
PSS007832 840 individuals African American or Afro-Caribbean Carribean UKB