Table 1 Clinical characteristics of WES and all UKB participants

From: Exome sequencing and characterization of 49,960 individuals in the UK Biobank

Demographic and clinical characteristics

UKB 50,000 WES participants

UKB 500,000 participants

Number of participants

49,960

502,543

Number of women (%)

27,243 (54.5)

273,460 (54.4)

Age at assessment in years (Q1–Q3)a

58 (45–71)

58 (45–71)

Body-mass index in kg m−2 (Q1–Q3)a

26 (21–31)

26 (21–31)

Number of imaged participants (%)a

12,075 (24.1)b

21,407 (4.3)b,c

Number of current and past smokers (%)a

17,515 (35.0)

216,482 (43.1)

Townsend deprivation index (Q1–Q3)a

−2.0 (−6.1, −2.1)

−2.1 (−6.2, −1.9)

Inpatient (ICD10) 3-digit codes per patient (Q1–Q3)

5 (2–9)

5 (2–9)

Patients with ≥1 inpatient ICD10 diagnoses (%)

42,066 (84.2)

391,983 (78.0)

Genetic ancestry assignmentd

African (%)

1.49

1.24

East Asian (%)

0.54

0.51

European (%)

93.6

94.5

Cardiometabolic phenotypes

Coronary disease (%)

3,340 (6.7)

35,879 (7.1)

Heart failure (%)

300 (0.6)

4,399 (0.8)

Type 2 diabetes (%)

1,541 (3.0)

17,261 (3.4)

Respiratory

Asthma (%)

8,250 (16.5)

68,149 (13.5)

COPD (%)

741 (1.4)

7,438 (1.4)

Oncology phenotypes

Breast cancer in women (% in women)

1,657 (6.1)

16,772 (6.1)

Ovarian cancer (% in women)

162 (0.6)

1,777 (0.6)

Pancreatic cancer (%)

602 (1.2)

4,611 (0.9)

Prostate cancer (% in men)

848 (3.7)

8,855 (3.9)

Melanoma (%)

598 (1.1)

5,715 (1.1)

Enhanced measuresa

Hearing test (%)

40,546 (81.1)

167,011 (33.2)

Visual acuity measured (%)

39,461 (78.9)

117,092 (23.2)

IOP measured (left) (%)

37,940 (75.9)

111,942 (22.2)

Autorefraction (%)

36,067 (72.1)

105,989 (21.0)

Retinal OCT (%)

32,748 (65.5)

67,708 (13.4)

Electrocardiogram at rest (%)

10,829 (27.1)

13,572 (2.1)

  1. Demographics and clinical characteristics of UKB 50,000-sequenced participants and overall 500,000 participants. See Supplementary Methods for definition of UKB clinical phenotype definitions and Supplementary Table 1 for additional characteristics. Values are expressed as the median (first to third quantile (Q1–Q3)) or as counts (and percentages). COPD, chronic obstructive pulmonary disease; IOP, intra-ocular pressure; OCT, optical coherence tomography.
  2. aDemographic and enhanced measure counts were based on data from the initial assessment visit.
  3. bThe number of samples with WES data and at least one non-missing image-derived phenotype value from data downloaded from the UKB in November 2018.
  4. cThe number of samples with at least one non-missing image-derived phenotype value from data downloaded from UKB in November 2018.
  5. dThe genetic ancestry assignment is based on the number of samples in 3 predefined regions of a plot of the first two genetic principal component scores, where the regions are selected to represent African, East Asian and European ancestry (Supplementary Fig. 2).
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