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. 2023 Apr 7;110(5):741–761. doi: 10.1016/j.ajhg.2023.03.009

Table 1.

The list of real phenotypes and GWAS data sources analyzed in this study

Phenotype Description GWAS source GWAS sample size Validation sample size Test sample size
HEIGHT standing height UKB 242,213 26,913 67,282
HDL high-density lipoprotein UKB 211,856 23,540 58,849
BMI body mass index UKB 241,959 26,885 67,211
FVC forced vital capacity UKB 221,249 24,584 61,459
FEV1 forced expiratory volume in 1 s UKB 221,265 24,586 61,463
HC hip circumference UKB 242,311 26,924 67,309
WC waist circumference UKB 242,340 26,927 67,317
LDL low-density lipoprotein UKB 230,995 25,667 64,166
BW birth weight UKB 138,300 15,367 38,417
T2D type 2 diabetes UKB 235,937 26,216 65,538
RA rheumatoid arthritis UKB 186,239 20,694 51,734
ASTHMA asthma UKB 229,031 25,448 63,620
LangoAllen2010_HEIGHT standing height Allen et al.74 131,547 26,913 67,282
Speliotes2010_BMI body mass index Speliotes et al.75 122,033 26,885 67,211
GLGC2021_HDL high-density lipoprotein cholesterol Graham et al.76 888,227 23,540 58,849
GLGC2021_LDL low-density lipoprotein cholesterol Graham et al.76 842,660 25,667 64,166
Teslovich2010_HDL high-density lipoprotein cholesterol Teslovich et al.77 97,749 23,540 58,849
Teslovich2010_LDL low-density lipoprotein cholesterol Teslovich et al.77 93,354 25,667 64,166
SpiroMeta2019_FVC forced vital capacity Shrine et al.78 79,005 24,584 61,459
SpiroMeta2019_FEV1 forced expiratory volume in 1 s Shrine et al.78 79,005 24,586 61,463
Morris2012_T2D type 2 diabetes Morris et al.79 60,786 26,216 65,538
Scott2017_T2D type 2 diabetes Scott et al.80 159,208 26,216 65,538
Okada2014_RA rheumatoid arthritis Okada et al.81 37,681 20,694 51,734
Demenais2018_ASTHMA asthma Demenais et al.82 142,486 25,448 63,620

With each phenotype code, we provide the full phenotype name and description and the GWAS data source or cohort (UKB or external study) as well as the sample sizes for the training, validation, and test sets. The sample sizes for each subset may vary slightly across the five folds. For the external summary statistics, we prepended the phenotype codes with either the consortium name or the name of the first author as well as the year in which the GWAS was published. For analyses with the external GWAS summary statistics, the validation and test sets come from the UK Biobank.