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Table 2 List of binary phenotypes

From: A PheWAS study of a large observational epidemiological cohort of African Americans from the REGARDS study

Short name

Category

Full description

Number of “yes”

Number of samples

Frequency of “yes” (%)

Prevalent Phenotypes

CogStatus [26, 27]

Aging

Cognitive Status: Normal: defined as cogscore> 4, Impaired: defined as cogscore <=4

744

6195

12.01

Falls [28]

Aging

Self-reported fall in the past year

1166

7704

15.13

Afib [29, 30]

CVD related

Atrial Fibrillation (self-report or ECG evidence)

573

7526

7.61

CAD [31]

CVD related

History of Heart Disease (self-reported MI, CABG, bypass, angioplasty, or stenting OR evidence of MI via ECG

1186

7582

15.64

DVT [32]

CVD related

Self-reported deep vein thrombosis

371

7699

4.82

Hypertension [33, 34]

CVD related

Hypertensive if SBP > =140 or DBP > =90 or self-reported current medication use to control blood pressure

5622

7714

72.88

Dyslipidemia [35]

CVD related

Dyslipidemia: if TC > =240 or LDL > =160 or HDL < =40 or on medication

4171

7604

54.85

MI_SR [31]

CVD related

History of Myocardial Infarction (MI) (self-reported MI OR evidence of MI via ECG

891

7588

11.74

PAD_amputation [36]

CVD related

History of leg amputation

40

7725

0.52

PAD_surgery [36]

CVD related

Self-reported procedure to fix the arteries in legs

162

7709

2.1

Stroke_SR [37, 38]

CVD related

Participant reported stroke at baseline

597

7701

7.75

Stroke_Sympt [39, 40]

CVD related

Presence of stroke symptoms at baseline

1632

7134

22.88

TIA [29, 37]

CVD related

Participant reported Transient ischemic attack at baseline

257

7102

3.62

Diabetes [41]

Diabetes related

Diabetic if fasting glucose> = 126/non-fasting glucose> = 200 or pills or insulin

2335

7639

30.57

Cancer [42]

Other

Have you ever been diagnosed with cancer

526

4895

10.75

Orthopnea [29]

Other

Require more than one pillow to sleep at night

1076

7702

13.97

Dialysis [43]

Renal

Self-reported dialysis

45

7670

0.59

KidneyFailure [43]

Renal

Self-reported kidney failure

164

7670

2.14

Incident Phenotypes

CHD [44]

CVD related

Incidence of coronary heart disease until 2012

436

7726

5.64

MI [44]

CVD related

Incidence of myocardial infarction until 2012

284

7726

3.68

Stroke [45]

CVD related

Incidence of Stroke until 20,150,401

287

7726

3.71

Death [46]

Other

Incidence of Death until 20,150,401

1494

7726

19.34

Infection [47, 48]

Other

Incidence of infection

548

7726

7.09

Sepsis [47, 48]

Other

Incidence of sepsis

307

7726

3.97

Severe_sepsis [47, 48]

Other

Incidence of severe sepsis

243

7726

3.15

ESRD [49]

Renal

Incidence of end stage renal disease until 2012

238

7726

3.08