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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