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Polygenic Risk Score Disease Trait
a-xavier edited this page Oct 15, 2019
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3 revisions
Here is the list of all traits in GWAS catalogs with more than 5 SNPs.
To use with the --prs function of TAPES.
This list can also be found in the ./acmg_db/gwas_terms2.txt from the TAPES repository.
We recommend the use of at least 20 SNPs for the PRS module.
| Disease/Trait | Number of SNPs in GWAS catalog |
|---|---|
| 1,5-anhydroglucitol levels | 8 |
| 3-month functional outcome in ischaemic stroke (modified Rankin score) | 54 |
| ACPA-positive rheumatoid arthritis (smoking interaction) | 15 |
| AIDS | 7 |
| AIDS progression | 8 |
| Abdominal aortic aneurysm | 16 |
| Acne (severe) | 37 |
| Acute anterior uveitis (with or without ankylosing spondylitis) | 14 |
| Acute lymphoblastic leukemia (childhood) | 62 |
| Acute lymphoblastic leukemia in childhood (B cell precursor) | 14 |
| Adiponectin levels | 6 |
| Adolescent idiopathic scoliosis | 28 |
| Adult asthma | 12 |
| Advanced age-related macular degeneration | 52 |
| Adverse response to chemotherapy (neutropenia/leucopenia) (all anthracycline-based drugs) | 6 |
| Adverse response to chemotherapy (neutropenia/leucopenia) (all antimetabolite drugs) | 6 |
| Adverse response to chemotherapy (neutropenia/leucopenia) (all antimicrotubule drugs) | 12 |
| Adverse response to chemotherapy (neutropenia/leucopenia) (all platinum-based drugs) | 6 |
| Adverse response to chemotherapy (neutropenia/leucopenia) (all topoisomerase inhibitors) | 6 |
| Adverse response to chemotherapy (neutropenia/leucopenia) (carboplatin) | 9 |
| Adverse response to chemotherapy (neutropenia/leucopenia) (cisplatin) | 7 |
| Adverse response to chemotherapy (neutropenia/leucopenia) (docetaxel) | 7 |
| Adverse response to chemotherapy (neutropenia/leucopenia) (paclitaxel + carboplatin) | 7 |
| Adverse response to chemotherapy (neutropenia/leucopenia) (paclitaxel) | 8 |
| Adverse response to chemotherapy in breast cancer (alopecia) (anti-microtubule) | 7 |
| Adverse response to chemotherapy in breast cancer (alopecia) (cyclophosphamide+doxorubicin+/-5FU) | 8 |
| Affective disorder and suicide attempts | 7 |
| Age-related macular degeneration | 94 |
| Age-related macular degeneration (choroidal neovascularisation) | 6 |
| Age-related macular degeneration (geographic atrophy) | 9 |
| Aging (time to event) | 8 |
| Airflow obstruction | 31 |
| Alanine aminotransferase (ALT) levels after remission induction therapy in actute lymphoblastic leukemia (ALL) | 54 |
| Alcohol consumption (drinkers vs non-drinkers) | 7 |
| Alcohol consumption (drinks per week) | 6 |
| Alcohol dependence | 55 |
| Alcohol dependence (age at onset) | 28 |
| Alcohol use disorder (total score) | 15 |
| Alcoholic chronic pancreatitis | 156 |
| Allergic disease (asthma, hay fever or eczema) | 169 |
| Allergic rhinitis | 79 |
| Allergic rhinitis in non-asthmatics | 7 |
| Allergic sensitization | 31 |
| Allergy | 25 |
| Alopecia areata | 44 |
| Alzheimer's disease | 146 |
| Alzheimer's disease (late onset) | 135 |
| Alzheimer's disease (survival time) | 7 |
| Alzheimer's disease in APOE e4+ carriers | 17 |
| Alzheimer's disease in APOE e4- carriers | 32 |
| Alzheimer's disease or family history of Alzheimer's disease | 13 |
| Alzheimer's disease with language domain impairment | 6 |
| Alzheimer's disease with multiple cognitive domain impairments | 9 |
| Alzheimer's disease with no specific cognitive domain impairment | 7 |
| Alzheimer's disease with visuospatial domain impairment | 9 |
| Amyotrophic lateral sclerosis | 86 |
| Amyotrophic lateral sclerosis (sporadic) | 10 |
| Amyotrophic lateral sclerosis in C9orf72 mutation positive individuals | 6 |
| Angiotensin-converting enzyme inhibitor intolerance | 45 |
| Ankle injury | 42 |
| Ankylosing spondylitis | 106 |
| Anorexia nervosa | 8 |
| Anthropometric traits | 13 |
| Anti-thyroid drug induced agranulocytosis | 6 |
| Antineutrophil cytoplasmic antibody-associated vasculitis | 14 |
| Anxiety disorder | 6 |
| Aortic root size | 21 |
| Arthritis (juvenile idiopathic) | 7 |
| Asparaginase hypersensitivity in acute lymphoblastic leukemia | 9 |
| Asparaginase-induced acute pancreatitis in acute lymphoblastic leukemia (onset time) | 11 |
| Asthma | 275 |
| Asthma (adult onset) | 72 |
| Asthma (childhood onset) | 180 |
| Asthma (moderate or severe) | 27 |
| Asthma (sex interaction) | 6 |
| Asthma and hay fever | 21 |
| Asthma exacerbations in inhaled corticosteroid treatment | 16 |
| Asthma onset (childhood vs adult) | 55 |
| Asthma or allergic disease (pleiotropy) | 38 |
| Atopic dermatitis | 73 |
| Atopic march | 7 |
| Atrial fibrillation | 457 |
| Attention deficit hyperactivity disorder | 40 |
| Attention deficit hyperactivity disorder or cannabis use | 16 |
| Atypical femoral fracture in phosphonate treatment | 14 |
| Autism | 13 |
| Autism spectrum disorder | 54 |
| Autism spectrum disorder or schizophrenia | 300 |
| Autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia (combined) | 60 |
| Autism spectrum disorder-related traits | 6 |
| Autoimmune thyroid diseases (Graves disease or Hashimoto's thyroiditis) | 11 |
| BMI (adjusted for smoking behaviour) | 143 |
| BMI in non-smokers | 104 |
| BMI in smokers | 30 |
| BRCA1/2-negative high-risk breast cancer | 19 |
| Bacteremia | 12 |
| Barrett's esophagus | 14 |
| Barrett's esophagus or Esophageal adenocarcinoma | 14 |
| Basal cell carcinoma | 65 |
| Behcet's disease | 20 |
| Benign prostatic hyperplasia and lower urinary tract symptoms | 23 |
| Benign prostatic hyperplasia and lower urinary tract symptoms (prostate cancer excluded) | 22 |
| Biliary atresia | 6 |
| Bilirubin levels | 30 |
| Binge eating behaviour and bipolar disorder | 7 |
| Binge eating behaviour in bipolar disorder | 6 |
| Biochemical measures | 17 |
| Biomedical quantitative traits | 6 |
| Bipolar I disorder | 63 |
| Bipolar disorder | 319 |
| Bipolar disorder and eating disorder | 10 |
| Bipolar disorder and schizophrenia | 116 |
| Bipolar disorder with mood-incongruent psychosis | 16 |
| Birth weight | 12 |
| Bisphosphonate-associated atypical femoral fracture | 37 |
| Bladder cancer | 32 |
| Blond vs non-blond hair color | 6 |
| Blond vs. brown/black hair color | 212 |
| Blood pressure | 93 |
| Blood pressure measurement (cold pressor test) | 7 |
| Blood pressure measurement (high sodium and potassium intervention) | 13 |
| Blood pressure measurement (high sodium intervention) | 11 |
| Blood pressure measurement (low sodium intervention) | 10 |
| Body fat percentage | 52 |
| Body mass index | 1270 |
| Body mass index in physically active individuals | 193 |
| Bone mineral density | 9 |
| Bone mineral density (femoral neck) | 6 |
| Bone mineral density (hip) | 30 |
| Bone mineral density (spine) | 37 |
| Borderline personality disorder | 28 |
| Brain volume in infants (grey matter) | 12 |
| Brain volume in infants (white matter) | 6 |
| Breast Cancer in BRCA1 mutation carriers | 15 |
| Breast cancer | 543 |
| Breast cancer (early onset) | 18 |
| Breast cancer (estrogen-receptor negative) | 73 |
| Breast cancer (survival) | 9 |
| Breast cancer and/or colorectal cancer | 18 |
| Breast cancer in BRCA2 mutation carriers | 6 |
| Breast cancer specific mortality in breast cancer | 47 |
| Breast cancer specific mortality in estrogen receptor negative breast cancer | 28 |
| Breast cancer specific mortality in estrogen receptor positive breast cancer | 22 |
| Breast size | 38 |
| Bronchopulmonary dysplasia | 26 |
| Bronchopulmonary dysplasia in preterm infants | 12 |
| Brown vs. black hair color | 55 |
| Brown vs. non-brown hair color | 8 |
| C-reactive protein | 14 |
| C-reactive protein and white blood cell count | 9 |
| Caffeine consumption | 10 |
| Caffeine metabolism (plasma 1,3,7-trimethylxanthine (caffeine) level) | 11 |
| Caffeine metabolism (plasma 1,7-dimethylxanthine (paraxanthine) to 1,3,7-trimethylxanthine (caffeine) ratio) | 31 |
| Calcium levels | 6 |
| Cancer | 43 |
| Candidemia | 8 |
| Cannabis dependence | 10 |
| Carbamazepine-induced hyponatremia in epilepsy | 7 |
| Cardiac Troponin-T levels | 18 |
| Cardiovascular disease risk factors | 20 |
| Carpal tunnel syndrome | 16 |
| Celiac disease | 99 |
| Cervical cancer | 38 |
| Childhood ear infection | 38 |
| Chin dimples | 46 |
| Cholesterol, total | 131 |
| Chronic bronchitis and chronic obstructive pulmonary disease | 11 |
| Chronic central serous retinopathy | 9 |
| Chronic hepatitis B infection | 23 |
| Chronic kidney disease | 65 |
| Chronic lymphocytic leukemia | 126 |
| Chronic obstructive pulmonary disease | 174 |
| Chronotype | 351 |
| Circulating vasoactive peptide levels | 7 |
| Cisplatin-induced ototoxicity | 20 |
| Classic bladder exstrophy | 25 |
| Cleft lip with or without cleft palate | 32 |
| Cleft lip with or without cleft palate (maternal periconceptional vitamin use interaction) | 8 |
| Cleft palate | 65 |
| Clozapine-induced agranulocytosis | 28 |
| Clozapine-induced agranulocytosis/granulocytopenia in treatment-resistant schizophrenia | 12 |
| Coagulation factor levels | 6 |
| Coffee consumption | 7 |
| Cognitive ability | 69 |
| Cognitive ability (MTAG) | 82 |
| Colonoscopy-negative controls vs population controls | 130 |
| Colorectal adenoma (advanced) | 30 |
| Colorectal cancer | 463 |
| Colorectal cancer (SNP x SNP interaction) | 7 |
| Colorectal cancer (diet interaction) | 13 |
| Colorectal cancer or advanced adenoma | 121 |
| Colorectal or endometrial cancer | 29 |
| Complement C3 and C4 levels | 10 |
| Conduct disorder | 12 |
| Congenital heart disease (inherited effect) | 10 |
| Congenital heart disease (maternal effect) | 20 |
| Conotruncal heart defects | 11 |
| Conotruncal heart defects (inherited effects) | 10 |
| Conotruncal heart defects (maternal effects) | 22 |
| Corneal astigmatism | 63 |
| Corneal curvature | 10 |
| Coronary artery aneurysm in Kawasaki disease | 22 |
| Coronary artery disease | 106 |
| Coronary artery disease (myocardial infarction, percutaneous transluminal coronary angioplasty, coronary artery bypass grafting, angina or chromic ischemic heart disease) | 72 |
| Coronary artery disease in type 1 diabetes | 21 |
| Coronary atherosclerosis (increased number of diseased vessels) (traffic exposure interaction) | 8 |
| Coronary heart disease | 89 |
| Corticobasal degeneration | 8 |
| Cough in response to angiotensin-converting enzyme inhibitor drugs | 33 |
| Craniofacial microsomia | 13 |
| Creatinine levels | 9 |
| Crohn's disease | 385 |
| Crohn's disease-related phenotypes | 7 |
| Cutaneous lupus erythematosus | 7 |
| Cutaneous psoriasis | 10 |
| Cutaneous squamous cell carcinoma | 12 |
| D-dimer levels | 15 |
| Daytime nap | 7 |
| Deep ovarian and/or rectovaginal disease with dense adhesions | 10 |
| Dehydroepiandrosterone sulphate levels | 8 |
| Delirium | 27 |
| Dementia with Lewy bodies | 6 |
| Depression | 239 |
| Depression and alcohol dependence | 8 |
| Diabetic kidney disease | 58 |
| Diabetic kidney disease in type 2 diabetes | 9 |
| Diabetic kidney disease in type 2 diabetes (ESRD vs. no ESRD) | 14 |
| Diabetic retinopathy | 20 |
| Diabetic retinopathy (all NPDR and PDR) | 19 |
| Diabetic retinopathy (moderate NPDR and PDR) | 17 |
| Dialysis-related mortality | 26 |
| Diastolic blood pressure | 422 |
| Diastolic blood pressure response to hydrochlorothiazide in hypertension | 8 |
| Dietary macronutrient intake | 15 |
| Differentiated thyroid cancer | 9 |
| Diffuse large B cell lymphoma | 8 |
| Digestive system disease (Barrett's esophagus and esophageal adenocarcinoma combined) | 10 |
| Diisocyanate-induced asthma | 179 |
| Disease progression in age-related macular degeneration | 62 |
| Docetaxel-induced peripheral neuropathy in metastatic castrate-resistant prostate cancer | 12 |
| Drug-induced Stevens-Johnson syndrome or toxic epidermal necrolysis (SJS/TEN) | 10 |
| Drug-induced liver injury | 6 |
| Drug-induced liver injury (flucloxacillin) | 17 |
| Dupuytren's disease | 41 |
| Dysphagia | 19 |
| EGFR mutation-positive lung adenocarcinoma | 6 |
| Early onset atrial fibrillation | 6 |
| Early-onset Parkinson's disease | 13 |
| Eating disorders | 6 |
| Educational attainment | 7 |
| Educational attainment (college completion) | 34 |
| Educational attainment (years of education) | 10 |
| Electrocardiographic conduction measures | 8 |
| Electrocardiographic traits | 21 |
| Electroencephalogram traits | 8 |
| Emotional lability in attention deficit hyperactivity disorder | 8 |
| Emphysema-related traits | 7 |
| End-stage renal disease | 7 |
| Endometrial cancer | 42 |
| Endometrial cancer (Non-endometrioid histology) | 7 |
| Endometrial cancer (endometrioid histology) | 32 |
| Endometrial endometrioid carcinoma | 7 |
| Endometriosis | 106 |
| Endometriosis or endometrial cancer (pleiotropy) | 8 |
| Energy expenditure | 11 |
| Energy expenditure (24h) | 9 |
| Eosinophilic esophagitis | 23 |
| Eosinophilic esophagitis (pediatric) | 14 |
| Epilepsy | 10 |
| Epilepsy (remission after treatment) | 7 |
| Epilepsy and lamotrigine-induced maculopapular eruptions | 27 |
| Epithelial ovarian cancer | 175 |
| Erectile dysfunction and prostate cancer treatment | 23 |
| Erosive tooth wear (severe vs non-severe) | 45 |
| Esophageal adenocarcinoma | 13 |
| Esophageal cancer | 13 |
| Esophageal cancer (squamous cell) | 7 |
| Esophageal squamous cell carcinoma | 10 |
| Essential tremor | 14 |
| Estimated glomerular filtration rate | 258 |
| Eudaimonic well-being | 21 |
| Ewing sarcoma | 7 |
| Experiencing mood swings | 69 |
| Extremely high intelligence | 26 |
| Exudative age-related macular degeneration | 7 |
| Facial wrinkles | 19 |
| Familial lung adenocarcinoma | 36 |
| Familial lung cancer | 20 |
| Familial squamous cell lung carcinoma | 68 |
| Family history of Alzheimer's disease | 36 |
| Fasting blood glucose | 15 |
| Fasting plasma glucose | 25 |
| Febrile seizures | 7 |
| Febrile seizures (MMR vaccine-related) | 10 |
| Feeling fed-up | 60 |
| Feeling guilty | 29 |
| Feeling hurt | 46 |
| Feeling lonely | 10 |
| Feeling miserable | 64 |
| Feeling nervous | 67 |
| Feeling tense | 33 |
| Fibrinogen | 15 |
| Follicular lymphoma | 14 |
| Food addiction | 6 |
| Fractures | 22 |
| Freckles | 11 |
| Frontal fibrosing alopecia | 37 |
| Frontotemporal dementia | 18 |
| Frontotemporal dementia with GRN mutation | 12 |
| Fuchs's corneal dystrophy | 8 |
| Fulminant type 1 diabetes | 9 |
| Gait speed in old age | 19 |
| Gallbladder cancer | 7 |
| Gallstone disease | 38 |
| Gamma glutamyl transpeptidase | 7 |
| Gastric adenocarcinoma (histologically verified) | 7 |
| Gastric cancer | 20 |
| Gastritis | 7 |
| Gemcitabine-induced early high-grade neutropenia in pancreatic cancer | 6 |
| General cognitive ability | 1248 |
| Generalized epilepsy | 10 |
| Giant cell arteritis | 8 |
| Glaucoma | 61 |
| Glaucoma (primary angle closure) | 22 |
| Glaucoma (primary open-angle) | 100 |
| Glioblastoma | 35 |
| Glioblastoma (age-stratified) | 20 |
| Glioma | 68 |
| Glioma (high-grade) | 6 |
| Glomerular filtration rate in diabetes | 7 |
| Glycated hemoglobin levels | 19 |
| Glycemic traits | 11 |
| Gout | 27 |
| Graves' disease | 36 |
| Gut microbiota (bacterial taxa) | 16 |
| Gut microbiota (beta diversity) | 15 |
| Gut microbiota (functional units) | 56 |
| HDL cholesterol | 334 |
| HIV-1 control | 10 |
| HIV-1 susceptibility | 6 |
| Hand grip strength | 23 |
| Heart failure | 16 |
| Heart rate | 7 |
| Heart rate response to beta blockers (atenolol add-on therapy) | 33 |
| Heart rate response to beta blockers (atenolol monotherapy) | 29 |
| Heart rate response to exercise | 32 |
| Heart rate response to recovery post exercise | 27 |
| Height | 302 |
| Hematocrit | 16 |
| Hematological parameters | 12 |
| Hematology traits | 6 |
| Hemoglobin | 11 |
| Hemoglobin levels | 11 |
| Hemostatic factors and hematological phenotypes | 7 |
| Hepatitis | 9 |
| Hepatitis B | 10 |
| Hepatitis C (spontaneous viral clearance) | 7 |
| Hepatocellular carcinoma | 9 |
| Hepatocellular carcinoma in hepatitis B infection | 11 |
| Hepcidin levels | 8 |
| Heroin dependence | 8 |
| High-grade serous ovarian cancer | 21 |
| Hippocampal tail volume | 7 |
| Hippocampal tail volume (corrected for total hippocampal volume) | 7 |
| Hippocampal volume | 13 |
| Hirschsprung disease | 17 |
| Hodgkin's lymphoma | 34 |
| Hypersomnia (HLA-DQB1*06:02 negative) | 6 |
| Hypertension | 39 |
| Hypertriglyceridemia | 24 |
| Hypospadias | 25 |
| Hypothyroidism | 45 |
| Idiopathic dilated cardiomyopathy | 44 |
| Idiopathic inflammatory myopathy | 7 |
| Idiopathic membranous nephropathy | 21 |
| Idiopathic osteonecrosis of the femoral head | 6 |
| Idiopathic pulmonary fibrosis | 14 |
| IgA nephropathy | 64 |
| IgE grass sensitization | 9 |
| Immunoglobulin A | 12 |
| Immunoglobulin A vasculitis | 7 |
| Immunoglobulin light chain (AL) amyloidosis | 10 |
| Infantile hypertrophic pyloric stenosis | 22 |
| Inflammatory bowel disease | 295 |
| Inflammatory skin disease | 15 |
| Influenza A (H1N1) infection | 10 |
| Insomnia | 397 |
| Insomnia (caffeine-induced) | 9 |
| Insomnia symptoms (never/rarely vs. sometimes/usually) | 49 |
| Insomnia symptoms (never/rarely vs. usually) | 55 |
| Insulin resistance/response | 14 |
| Intelligence | 560 |
| Interferon alpha levels in systemic lupus erythematosus | 8 |
| Interstitial lung disease | 18 |
| Intracranial aneurysm | 79 |
| Intracranial volume | 9 |
| Intraocular pressure | 49 |
| Invasive epithelial ovarian cancer | 19 |
| Iron status biomarkers | 20 |
| Irritable bowel syndrome | 11 |
| Irritable mood | 67 |
| Ischemic stroke | 27 |
| Ischemic stroke (cardioembolic) | 9 |
| Ischemic stroke (large artery atherosclerosis) | 7 |
| JT interval (sulfonylurea treatment interaction) | 14 |
| Juvenile idiopathic arthritis (oligoarticular or rheumatoid factor-negative polyarticular) | 31 |
| Kawasaki disease | 20 |
| Knee osteoarthritis | 35 |
| LDL cholesterol | 253 |
| Large artery stroke | 22 |
| Laryngeal squamous cell carcinoma | 6 |
| Late-onset myasthenia gravis | 19 |
| Latent naming speed | 7 |
| Lateral ventricular volume in normal aging | 7 |
| Left ventricular obstructive tract defect (inherited effect) | 15 |
| Left ventricular obstructive tract defect (maternal effect) | 9 |
| Leprosy | 40 |
| Light vs. dark hair color | 8 |
| Lipid traits | 18 |
| Lipoprotein (a) levels | 44 |
| Lipoprotein phospholipase A2 activity in cardiovascular disease | 16 |
| Lipoprotein-associated phospholipase A2 activity and mass | 14 |
| Lipoprotein-associated phospholipase A2 activity change in response to statin therapy | 7 |
| Liver enzyme levels | 11 |
| Liver enzyme levels (alkaline phosphatase) | 14 |
| Liver enzyme levels (gamma-glutamyl transferase) | 26 |
| Longevity | 32 |
| Longevity (90 years and older) | 10 |
| Longitudinal alcohol consumption | 6 |
| Low high density lipoprotein cholesterol levels | 11 |
| Low white blood cell count (conditioned on rs2814778) | 16 |
| Low-grade serous and serous borderline ovarian cancer | 12 |
| Lower body strength | 11 |
| Lung adenocarcinoma | 92 |
| Lung cancer | 182 |
| Lung cancer in ever smokers | 112 |
| Lung cancer in never smokers | 23 |
| Lung function (FEV1) | 23 |
| Lung function (FVC) | 32 |
| Lung function (forced vital capacity) | 7 |
| Lupus nephritis in systemic lupus erythematosus | 17 |
| Lymphoma | 13 |
| Magnesium levels | 28 |
| Major depressive disorder | 77 |
| Major depressive disorder (broad) | 9 |
| Malaria | 13 |
| Male-pattern baldness | 57 |
| Maternal history of Alzheimer's disease | 6 |
| Mean arterial pressure | 13 |
| Mean corpuscular hemoglobin | 18 |
| Mean corpuscular hemoglobin concentration | 10 |
| Mean corpuscular volume | 19 |
| Mean platelet volume | 51 |
| Meconium ileus in cystic fibrosis | 7 |
| Melanoma | 54 |
| Memory dysfunction in frontotemporal lobe dementia | 6 |
| Menarche (age at onset) | 82 |
| Menarche and menopause (age at onset) | 6 |
| Menopause (age at onset) | 120 |
| Metabolic syndrome | 33 |
| Metabolic traits | 11 |
| Metabolite levels | 18 |
| Metastasis in stage I-III microsatellite instability low/stable colorectal cancer (time to event) | 26 |
| Migraine | 144 |
| Migraine - clinic-based | 37 |
| Migraine with aura | 23 |
| Migraine without aura | 41 |
| Mild influenza (H1N1) infection | 18 |
| Mitral valve prolapse | 8 |
| Moderate or severe diarrhoea in darapladib-treated cardiovascular disease (time to event) | 7 |
| Modic changes | 10 |
| Monoclonal gammopathy of undetermined significance | 25 |
| Morning person | 213 |
| Morning vs. evening chronotype | 40 |
| Mortality in heart failure | 13 |
| Mortality in sepsis | 15 |
| Mouth ulcers | 94 |
| Moyamoya disease | 36 |
| Mucinous adenocarcinoma in colorectal cancer | 17 |
| Mucinous ovarian carcinoma | 13 |
| Multiple cancers (lung cancer, gastric cancer, and squamous cell carcinoma) | 7 |
| Multiple keratinocyte cancers | 17 |
| Multiple myeloma | 43 |
| Multiple myeloma (IgH translocation) | 25 |
| Multiple myeloma (hyperdiploidy) | 14 |
| Multiple sclerosis | 310 |
| Multiple sclerosis (OCB status) | 12 |
| Multiple system atrophy | 22 |
| Multiple system atrophy (pathologically confirmed) | 16 |
| Myasthenia gravis | 9 |
| Myocardial infarction | 53 |
| Myocardial infarction (early onset) | 9 |
| Myopia | 50 |
| Myopia (pathological) | 15 |
| Myositis | 23 |
| N-glycan levels | 41 |
| Narcolepsy | 17 |
| Nasal polyps | 18 |
| Nasopharyngeal carcinoma | 31 |
| Nephropathy | 6 |
| Neuroblastoma | 10 |
| Neurociticism | 181 |
| Neurocognitive impairment in HIV-1 infection (dichotomous) | 9 |
| Neuromyelitis optica | 7 |
| Neuromyelitis optica (AQP4-IgG-positive) | 7 |
| Neuroticism | 523 |
| Nodular sclerosis Hodgkin lymphoma | 11 |
| Non-cardia gastric cancer | 8 |
| Non-glioblastoma glioma | 41 |
| Non-melanoma skin cancer | 82 |
| Non-response to bupropion and depression | 6 |
| Non-small cell lung cancer (survival) | 6 |
| Nonalcoholic fatty liver disease | 14 |
| Nonsyndromic cleft lip with cleft palate | 56 |
| Nonsyndromic cleft lip with or without cleft palate | 6 |
| Obese vs. thin | 14 |
| Obesity | 81 |
| Obesity (early onset extreme) | 24 |
| Obesity (extreme) | 26 |
| Obesity without metabolic disease | 13 |
| Obesity-related traits | 893 |
| Obstetric antiphospholipid syndrome | 15 |
| Oral cavity and pharyngeal cancer | 10 |
| Oral cavity cancer | 9 |
| Orofacial clefts | 63 |
| Oropharynx cancer | 17 |
| Ossification of the posterior longitudinal ligament of the spine | 8 |
| Osteoarthritis | 43 |
| Osteoarthritis (hip) | 67 |
| Osteoarthritis (hospital diagnosed) | 6 |
| Osteoarthritis (self-reported) | 29 |
| Osteoarthritis of the hip (with total joint replacement) | 6 |
| Osteoarthritis of the hip or knee | 32 |
| Osteoarthritis of the hip or knee (hospital diagnosed) | 8 |
| Osteoarthritis of the knee (hospital diagnosed) | 7 |
| Osteoporosis-related phenotypes | 6 |
| Osteosarcoma | 6 |
| Ovarian cancer | 56 |
| Ovarian cancer in BRCA1 mutation carriers | 9 |
| Overall survival in osteosarcoma | 9 |
| Overall survival in serous epithelial ovarian cancer treated with paclitaxel and cisplatin | 10 |
| P wave duration | 20 |
| P wave terminal force | 12 |
| PEG-asparaginase hypersensitivity without enzyme activity in childhood acute lymphoblastic leukaemia | 11 |
| PR interval | 71 |
| Paclitaxel-induced neuropathy | 10 |
| Paget's disease | 13 |
| Pancreatic cancer | 101 |
| Pancreatic ductal adenocarcinoma | 9 |
| Papillary thyroid cancer | 9 |
| Parkinson disease and lewy body pathology | 10 |
| Parkinson's disease | 220 |
| Peak insulin response | 9 |
| Pelvic organ prolapse | 25 |
| Pelvic organ prolapse (moderate/severe) | 33 |
| Pemphigus vulgaris | 11 |
| Pericardial adipose tissue adjusted for height and weight | 7 |
| Periodontal disease-related phenotypes | 10 |
| Periodontal microbiota | 16 |
| Periodontitis | 18 |
| Periodontitis (CDC/AAP) | 28 |
| Periodontitis (PAL4Q3) | 18 |
| Perioperative myocardial infarction in coronary artery bypass surgery | 14 |
| Peripheral arterial disease (traffic-related air pollution interaction) | 154 |
| Peripheral artery disease | 9 |
| Phospholipid levels (plasma) | 17 |
| Photic sneeze reflex | 55 |
| Placental abruption | 9 |
| Plasma omega-3 polyunsaturated fatty acid level (eicosapentaenoic acid) | 17 |
| Plasma omega-3 polyunsaturated fatty acid levels (alphalinolenic acid) | 10 |
| Plasma omega-3 polyunsaturated fatty acid levels (docosapentaenoic acid) | 20 |
| Plasma trimethylamine N-oxide levels | 8 |
| Platelet count | 66 |
| Pneumococcal bacteremia | 9 |
| Polycystic ovary syndrome | 35 |
| Polymyositis | 8 |
| Post-traumatic stress disorder | 16 |
| Posterior cortical atrophy and Alzheimer's disease | 18 |
| Pre-treatment pain in head and neck squamous cell carcinoma | 9 |
| Preeclampsia | 18 |
| Premature menopause in childhood cancer survivors | 8 |
| Presence of antiphospholipid antibodies | 19 |
| Prevalent atrial fibrillation | 9 |
| Primary biliary cholangitis | 105 |
| Primary biliary cirrhosis | 47 |
| Primary central nervous system lymphoma | 7 |
| Primary sclerosing cholangitis | 49 |
| Prion diseases | 11 |
| Progressive supranuclear palsy | 16 |
| Proliferative diabetic retinopathy (vs NPDR and no DR) | 18 |
| Proliferative diabetic retinopathy (vs no DR) | 12 |
| Prostate cancer | 420 |
| Prostate cancer (SNP x SNP interaction) | 51 |
| Prostate cancer (advanced) | 18 |
| Prostate cancer (early onset) | 20 |
| Protein C levels | 15 |
| Proteinuria and chronic kidney disease | 9 |
| Psoriasis | 335 |
| Psoriasis vulgaris | 41 |
| Psoriatic arthritis | 57 |
| Psychological distress | 23 |
| Psychosis and Alzheimer's disease | 11 |
| Psychosis in Alzheimer's disease | 8 |
| Pulmonary function | 16 |
| Pulse pressure | 403 |
| Putamen volume | 10 |
| Pyoderma gangrenosum in inflammatory bowel disease | 7 |
| QRS duration | 132 |
| QRS interval (sulfonylurea treatment interaction) | 18 |
| QT interval | 97 |
| QT interval (sulfonylurea treatment interaction) | 12 |
| Quantitative traits | 33 |
| Reading disability or specific language impairment (pleiotropy) | 8 |
| Red blood cell traits | 20 |
| Red vs. brown/black hair color | 40 |
| Refractive astigmatism | 61 |
| Renal cell carcinoma | 37 |
| Renal function-related traits (BUN) | 15 |
| Renal function-related traits (eGRFcrea) | 10 |
| Renal function-related traits (sCR) | 9 |
| Renal underexcretion gout | 8 |
| Residual cognition | 9 |
| Resistance to antihypertensive treatment in hypertension | 6 |
| Resistant hypertension | 7 |
| Response to SSRI (symptom remission) | 8 |
| Response to abacavir-containing treatment in HIV-1 infection (virologic failure) | 27 |
| Response to anti-retroviral therapy (ddI/d4T) in HIV-1 infection (Grade 1 peripheral neuropathy) | 11 |
| Response to anti-retroviral therapy (ddI/d4T) in HIV-1 infection (Grade 2 peripheral neuropathy) | 13 |
| Response to anti-retroviral therapy (ddI/d4T) in HIV-1 infection (Grade 3 peripheral neuropathy) | 9 |
| Response to antidepressants (symptom remission) | 11 |
| Response to antineoplastic agents | 9 |
| Response to antipsychotic treatment | 10 |
| Response to chemotherapy in breast cancer hypertensive cases (cumulative dose) (bevacizumab) | 13 |
| Response to citalopram or escitalopram in depression | 7 |
| Response to citalopram treatment | 7 |
| Response to efavirenz-containing treatment in HIV 1 infection (virologic failure) | 35 |
| Response to fenofibrate (adiponectin levels) | 12 |
| Response to hepatitis C treatment | 17 |
| Response to irinotecan and platinum-based chemotherapy in non-small-cell lung cancer | 7 |
| Response to lurasidone in schizophrenia | 13 |
| Response to platinum-based chemotherapy in non-small-cell lung cancer | 6 |
| Response to radiotherapy in prostate cancer (toxicity, decreased urine stream) | 8 |
| Response to radiotherapy in prostate cancer (toxicity, rectal bleeding) | 6 |
| Response to radiotherapy in prostate cancer (toxicity, urinary frequency) | 11 |
| Response to selective serotonin reuptake inhibitors in depression | 8 |
| Response to serotonin reuptake inhibitors in major depressive disorder | 10 |
| Response to statins (LDL cholesterol change) | 8 |
| Response to treatment for acute lymphoblastic leukemia | 12 |
| Resting heart rate | 18 |
| Resting metabolic rate | 10 |
| Restless legs syndrome | 32 |
| Rheumatoid arthritis | 327 |
| Rheumatoid arthritis (ACPA-negative) | 8 |
| Rheumatoid arthritis (ACPA-positive) | 94 |
| Sarcoidosis | 10 |
| Schizoaffective disorder-bipolar type | 10 |
| Schizophrenia | 1690 |
| Selective IgA deficiency | 33 |
| Self-reported risk-taking behaviour | 26 |
| Sense of smell | 22 |
| Serous borderline ovarian cancer | 10 |
| Serous invasive ovarian cancer | 21 |
| Serum 25-Hydroxyvitamin D levels | 14 |
| Serum bilirubin levels in metabolic syndrome | 23 |
| Serum prostate-specific antigen levels | 6 |
| Serum urate levels in chronic kidney disease | 7 |
| Serum urea levels | 6 |
| Serum uric acid levels | 12 |
| Severe influenza A (H1N1) infection | 16 |
| Severe malaria | 16 |
| Severe skin toxicity response to cetuximab in colorectal cancer | 8 |
| Sex hormone-binding globulin levels | 25 |
| Shingles | 17 |
| Sjögren's syndrome | 52 |
| Sleep duration | 9 |
| Sleep duration (long sleep) | 8 |
| Sleep duration (short sleep) | 27 |
| Small cell lung carcinoma | 50 |
| Small vessel stroke | 9 |
| Smoking behavior | 31 |
| Smoking cessation in chronic obstructive pulmonary disease | 8 |
| Snoring | 42 |
| Soluble ICAM-1 | 7 |
| Spherical equivalent or myopia (age of diagnosis) | 140 |
| Sporadic neuroblastoma | 9 |
| Squamous cell carcinoma | 18 |
| Squamous cell lung carcinoma | 101 |
| Staphylococcus aureus infection | 6 |
| Staphylococcus aureus nasal carriage (intermittent) | 7 |
| Strenuous sports or other exercises | 8 |
| Stroke | 31 |
| Stroke (ischemic) | 10 |
| Subcortical brain region volumes | 8 |
| Sudden cardiac arrest | 52 |
| Suffering from nerves | 12 |
| Suicidal ideation | 29 |
| Suicide attempts | 32 |
| Suicide attempts in bipolar disorder | 17 |
| Suicide attempts in bipolar disorder or schizophrenia | 18 |
| Suicide attempts in major depressive disorder | 21 |
| Suicide attempts in major depressive disorder or bipolar disorder or schizophrenia | 40 |
| Suicide attempts in schizophrenia | 20 |
| Sulfasalazine-induced agranulocytosis | 32 |
| Supraventricular ectopy | 6 |
| Survival in colon cancer | 12 |
| Survival in microsatellite instability low/stable colorectal cancer | 12 |
| Survival in pancreatic cancer | 61 |
| Survival in rectal cancer | 18 |
| Systemic juvenile idiopathic arthritis | 25 |
| Systemic lupus erythematosus | 658 |
| Systemic lupus erythematosus and Systemic sclerosis | 20 |
| Systemic lupus erythematosus or rheumatoid arthritis | 9 |
| Systemic sclerosis | 52 |
| Systemic seropositive rheumatic diseases (Systemic sclerosis or systemic lupus erythematosus or rheumatoid arthritis or idiopathic inflammatory myopathies) | 26 |
| Systolic blood pressure | 680 |
| Systolic blood pressure in sickle cell anemia | 10 |
| Systolic blood pressure response to hydrochlorothiazide in hypertension | 10 |
| Takayasu arteritis | 69 |
| Tanning | 10 |
| Temporomandibular joint disorder | 7 |
| Testicular germ cell cancer | 6 |
| Testicular germ cell tumor | 126 |
| Tetralogy of Fallot | 6 |
| Thiazide-induced adverse metabolic effects in hypertensive patients | 59 |
| Thionamide-induced agranulocytosis in Graves' disease | 9 |
| Thrombosis | 12 |
| Thyroid cancer | 22 |
| Thyroid peroxidase antibody positivity | 11 |
| Tinnitus in cisplatin-treated testicular cancer | 10 |
| Tonsillectomy | 75 |
| Total cholesterol levels | 140 |
| Total hippocampal volume | 8 |
| Tourette syndrome | 31 |
| Tourette's syndrome or obsessive-compulsive disorder | 15 |
| Treatment resistant depression | 15 |
| Triglyceride levels | 15 |
| Triglycerides | 306 |
| Triiodothyronine levels | 6 |
| Tuberculosis | 63 |
| Tumor biomarkers | 11 |
| Type 1 diabetes | 143 |
| Type 1 diabetes and autoimmune thyroid diseases | 11 |
| Type 1 diabetes autoantibodies in high risk HLA genotype individuals (time to event) | 9 |
| Type 1 diabetes nephropathy | 11 |
| Type 2 diabetes | 893 |
| Type 2 diabetes (adjusted for BMI) | 70 |
| Type 2 diabetes and end-stage kidney disease | 25 |
| Type 2 diabetes and end-stage kidney disease in APOL1 risk genotype negative individuals | 13 |
| Type 2 diabetes nephropathy | 12 |
| Type 2 diabetes nephropathy including microalbuminuria | 6 |
| Ulcerative colitis | 280 |
| Urate levels | 66 |
| Urate levels in lean individuals | 36 |
| Urate levels in obese individuals | 35 |
| Urate levels in overweight individuals | 43 |
| Urgency urinary incontinence | 6 |
| Uric acid levels | 24 |
| Urinary bladder cancer | 7 |
| Urolithiasis | 17 |
| Uterine fibroid number (single vs multiple) | 8 |
| Uterine fibroids | 62 |
| Venous thromboembolism | 42 |
| Venous thromboembolism (SNP x SNP interaction) | 37 |
| Venous thromboembolism adjusted for sickle cell variant rs77121243-T | 86 |
| Vertical cup-disc ratio | 9 |
| Very long-chain saturated fatty acid levels (fatty acid 20:0) | 21 |
| Very long-chain saturated fatty acid levels (fatty acid 22:0) | 11 |
| Vigorous physical activity | 8 |
| Vitamin B12 levels | 10 |
| Vitamin D levels | 16 |
| Vitiligo | 89 |
| Waist circumference | 10 |
| Waist circumference adjusted for BMI in active individuals | 235 |
| Waist circumference adjusted for BMI in inactive individuals | 14 |
| Waist circumference adjusted for body mass index | 260 |
| Warfarin maintenance dose | 20 |
| Wegener's granulomatosis | 6 |
| Weight | 35 |
| White matter hyperintensities in ischemic stroke | 8 |
| White matter lesion progression | 7 |
| White matter lesion progression (adjusted for white matter lesion burden at baseline) | 6 |
| Wilms tumor | 7 |
| Worry too long after an embarrassing experience | 34 |
| Yu-Zhi constitution type in type 2 diabetes | 11 |
| middle facial morphology traits (quantitative measurement) | 6 |
| vWF and FVIII levels | 11 |