GWAS summary statistics of BioBank Japan (BBJ)

Citation: Sakaue, S. & Kanai, M., et al. A global atlas of genetic associations of 220 deep phenotypes. medRxiv (2020).

Link to wget commands for all the files
Category Phenotype Cohort No. samples No. cases No. controls Download link
ICD10 A Diphtheria infection BBJ 170,788 541 170,247 Download
ICD10 A Dysentery BBJ 178,482 411 178,071 Download
ICD10 A Nontuberculous Mycobacterial infection BBJ 172,384 64 172,320 Download
ICD10 A Pulmonary tuberculosis BBJ 178,671 7,800 170,871 Download
ICD10 A Typhoid fever BBJ 178,328 257 178,071 Download
ICD10 B Acute hepatitis by Hepatitis A virus BBJ 166,864 261 166,603 Download
ICD10 B Chronic hepatitis B BBJ 171,822 2,234 169,588 Download
ICD10 B Chronic hepatitis C BBJ 176,698 7,110 169,588 Download
ICD10 B Herpes infection BBJ 167,375 772 166,603 Download
ICD10 B Ringworm BBJ 178,726 692 178,034 Download
ICD10 B Zoster infection BBJ 168,812 2,209 166,603 Download
ICD10 C Breast cancer BBJ 79,550 6,325 73,225 Download
ICD10 C Brain tumor BBJ 178,726 405 178,321 Download
ICD10 C Cancer of hepatic bile ducts BBJ 159,619 418 159,201 Download
ICD10 C Colorectal cancer BBJ 167,691 8,305 159,386 Download
ICD10 C Cervical cancer BBJ 61,581 967 60,614 Download
ICD10 C Endometrial cancer BBJ 61,814 1,200 60,614 Download
ICD10 C Esophageal cancer BBJ 160,589 1,388 159,201 Download
ICD10 C Gastric cancer BBJ 167,122 7,921 159,201 Download
ICD10 C Hepatic cancer BBJ 161,323 2,122 159,201 Download
ICD10 C Lung cancer BBJ 178,726 4,444 174,282 Download
ICD10 C Malignant lymphoma BBJ 177,677 335 177,342 Download
ICD10 C Ovarian cancer BBJ 61,457 843 60,614 Download
ICD10 C Pancreatic cancer BBJ 159,700 499 159,201 Download
ICD10 C Pharyngeal and laryngeal cancer BBJ 178,726 300 178,426 Download
ICD10 C Prostate cancer BBJ 90,332 5,672 84,660 Download
ICD10 C Skin cancer BBJ 178,726 154 178,572 Download
ICD10 C Thyroid cancer BBJ 178,723 361 178,362 Download
ICD10 D Aplastic anemia BBJ 174,110 53 174,057 Download
ICD10 D Idiopathic thrombocytopenic purpura BBJ 178,726 168 178,558 Download
ICD10 D Iron deficiency anemia BBJ 178,675 4,618 174,057 Download
ICD10 D Sarcoidosis BBJ 177,887 220 177,667 Download
ICD10 D Uterine fibroid BBJ 80,208 14,475 65,733 Download
ICD10 E Diabetic nephropathy BBJ 132,984 220 132,764 Download
ICD10 E Grave's disease BBJ 175,465 2,809 172,656 Download
ICD10 E Goiter BBJ 173,783 1,127 172,656 Download
ICD10 E Hashimoto's disease BBJ 173,193 537 172,656 Download
ICD10 E Hyperthyroidism BBJ 173,650 994 172,656 Download
ICD10 E Hypothyroidism BBJ 173,770 1,114 172,656 Download
ICD10 E Type 1 diabetes BBJ 133,251 1,219 132,032 Download
ICD10 E Toxic epidermal necrolysis (Stevens-Johnson syndrome) BBJ 171,846 93 171,753 Download
ICD10 F Depression BBJ 178,630 836 177,794 Download
ICD10 F Insomnia BBJ 178,253 389 177,864 Download
ICD10 F Schizophrenia BBJ 177,893 99 177,794 Download
ICD10 F Substance dependence BBJ 178,726 118 178,608 Download
ICD10 G Carpal tunnel syndrome BBJ 178,726 192 178,534 Download
ICD10 G Epilepsy BBJ 178,254 2,466 175,788 Download
ICD10 G Facial nerve palsy (Bell's palsy) BBJ 178,534 343 178,191 Download
ICD10 G Myasthenia gravis BBJ 178,711 81 178,630 Download
ICD10 G Parkinson's disease BBJ 176,128 340 175,788 Download
ICD10 G Sleep apnea syndrome BBJ 178,337 473 177,864 Download
ICD10 H Allergic conjunctivitis BBJ 178,619 3,900 174,719 Download
ICD10 H Chronic suppurative otitis media BBJ 178,726 2,206 176,520 Download
ICD10 H Cataract BBJ 178,726 38,194 140,532 Download
ICD10 H Glaucoma BBJ 177,351 8,448 168,903 Download
ICD10 H Hearing loss, difficulty in hearing BBJ 178,726 3,400 175,326 Download
ICD10 H Iritis BBJ 175,653 110 175,543 Download
ICD10 H Meniere's disease BBJ 178,726 1,290 177,436 Download
ICD10 H Retinal detachment BBJ 170,292 1,389 168,903 Download
ICD10 H Retinitis pigmentosa BBJ 169,058 155 168,903 Download
ICD10 H Uveitis BBJ 174,725 125 174,600 Download
ICD10 I Aortic aneurysm BBJ 174,756 1,155 173,601 Download
ICD10 I Angina pectoris BBJ 159,165 14,007 145,158 Download
ICD10 I Chronic heart failure BBJ 178,726 10,540 168,186 Download
ICD10 I Cardiac valvular disease BBJ 178,726 1,995 176,731 Download
ICD10 I Cardiomegaly BBJ 178,726 743 177,983 Download
ICD10 I Cerebral aneurysm BBJ 155,154 3,132 152,022 Download
ICD10 I Dilated cardiomyopathy BBJ 178,162 417 177,745 Download
ICD10 I Esophageal varix BBJ 177,780 264 177,516 Download
ICD10 I Hypertrophic cardiomyopathy BBJ 178,128 383 177,745 Download
ICD10 I Ischemic stroke BBJ 174,686 22,664 152,022 Download
ICD10 I Intracerebral hemorrhage BBJ 153,478 1,456 152,022 Download
ICD10 I Myocardial infarction BBJ 161,206 14,992 146,214 Download
ICD10 I Myocarditis BBJ 177,847 102 177,745 Download
ICD10 I Peripheral arterial disease BBJ 177,713 4,112 173,601 Download
ICD10 I Pericarditis BBJ 177,834 89 177,745 Download
ICD10 I Rheumatic fever BBJ 170,399 152 170,247 Download
ICD10 I Stable angina pectoris BBJ 165,047 18,833 146,214 Download
ICD10 I Subarachnoid hemorrhage BBJ 153,225 1,203 152,022 Download
ICD10 I Unruptured cerebral aneurysm BBJ 152,113 91 152,022 Download
ICD10 I Unstable angina pectoris BBJ 152,105 5,891 146,214 Download
ICD10 I Varicose BBJ 178,726 474 178,252 Download
ICD10 I Ventricular arrhythmia BBJ 157,213 1,673 155,540 Download
ICD10 J Allergic rhinitis BBJ 161,563 7,897 153,666 Download
ICD10 J Asthma BBJ 175,948 13,015 162,933 Download
ICD10 J Bronchiectasis BBJ 162,044 241 161,803 Download
ICD10 J Bronchitis BBJ 171,465 1,465 170,000 Download
ICD10 J Chronic obstructive pulmonary disease BBJ 166,670 4,017 162,653 Download
ICD10 J Chronic sinusitis BBJ 156,843 4,617 152,226 Download
ICD10 J Chronic bronchitis BBJ 162,074 271 161,803 Download
ICD10 J Interstitial lung disease BBJ 178,020 1,046 176,974 Download
ICD10 J Nasal polyp BBJ 152,006 160 151,846 Download
ICD10 J Pediatric asthma BBJ 162,350 547 161,803 Download
ICD10 J Pleurisy BBJ 177,515 541 176,974 Download
ICD10 J Pneumoconiosis BBJ 177,059 85 176,974 Download
ICD10 J Pneumonia BBJ 178,726 7,423 171,303 Download
ICD10 J Pneumothorax BBJ 176,990 692 176,298 Download
ICD10 J Pollinosis BBJ 172,259 18,593 153,666 Download
ICD10 J Pulmonary Fibrosis BBJ 177,100 126 176,974 Download
ICD10 J Tonsillitis BBJ 152,266 420 151,846 Download
ICD10 K Autoimmune hepatitis BBJ 166,614 85 166,529 Download
ICD10 K Acute pancreatitis BBJ 178,298 827 177,471 Download
ICD10 K Cholecystitis BBJ 170,113 1,860 168,253 Download
ICD10 K Cholelithiasis BBJ 177,558 9,305 168,253 Download
ICD10 K Chronic pancreatitis BBJ 177,928 457 177,471 Download
ICD10 K Chronic gastritis BBJ 178,726 744 177,982 Download
ICD10 K Cirrhosis BBJ 178,726 2,551 176,175 Download
ICD10 K Constipation BBJ 176,629 397 176,232 Download
ICD10 K Gall bladder polyp BBJ 168,302 843 167,459 Download
ICD10 K Gastroesophageal reflux disease BBJ 178,464 948 177,516 Download
ICD10 K Gastric ulcer BBJ 173,877 12,650 161,227 Download
ICD10 K Ileus BBJ 178,003 1,771 176,232 Download
ICD10 K Periodontal disease BBJ 178,726 9,560 169,166 Download
ICD10 K Ulcerative colitis BBJ 178,689 314 178,375 Download
ICD10 L Atopic dermatitis BBJ 168,103 4,296 163,807 Download
ICD10 L Contact dermatitis BBJ 162,024 247 161,777 Download
ICD10 L Keloid BBJ 178,726 1,055 177,671 Download
ICD10 L Metal allergy BBJ 162,055 278 161,777 Download
ICD10 L Psoriasis vulgaris BBJ 172,495 206 172,289 Download
ICD10 L Type 2 diabetes BBJ 177,415 45,383 132,032 Download
ICD10 L Tatto BBJ 178,726 224 178,502 Download
ICD10 L Urticaria BBJ 172,083 9,893 162,190 Download
ICD10 M Back pain BBJ 178,726 1,732 176,994 Download
ICD10 M Behcet's disease BBJ 172,044 78 171,966 Download
ICD10 M Juvenile rheumatoid arthritis BBJ 173,378 110 173,268 Download
ICD10 M Polymyositis BBJ 175,657 58 175,599 Download
ICD10 M Rheumatoid arthritis BBJ 178,616 5,348 173,268 Download
ICD10 M Systemic lupus erythematoss BBJ 176,254 317 175,937 Download
ICD10 M Sjogren's syndrome BBJ 175,902 303 175,599 Download
ICD10 M Spinal canal stenosis BBJ 178,726 661 178,065 Download
ICD10 N Acute glomerulonephritis BBJ 174,788 443 174,345 Download
ICD10 N Acute renal failure BBJ 174,810 465 174,345 Download
ICD10 N Chronic glomerulonephritis BBJ 174,555 210 174,345 Download
ICD10 N Chronic renal failure BBJ 176,462 2,117 174,345 Download
ICD10 N Cystitis BBJ 176,953 1,665 175,288 Download
ICD10 N Endometriosis BBJ 82,761 1,786 80,975 Download
ICD10 N IgA nephritis BBJ 175,359 71 175,288 Download
ICD10 N Mastopathy BBJ 82,761 575 82,186 Download
ICD10 N Nephrotic syndrome BBJ 178,726 1,314 177,412 Download
ICD10 N Neuropathic bladder BBJ 178,726 308 178,418 Download
ICD10 N Ovarian cyst BBJ 82,761 2,896 79,865 Download
ICD10 N Pyelonephritis BBJ 177,099 1,811 175,288 Download
ICD10 N Urolithiasis BBJ 178,726 11,699 167,027 Download
ICD10 N Uterine prolapse BBJ 82,761 423 82,338 Download
ICD10 O Abortion BBJ 82,761 136 82,625 Download
ICD10 O Cesarian section BBJ 82,761 451 82,310 Download
ICD10 O Ectopic pregnancy BBJ 82,761 605 82,156 Download
ICD10 O Pre-eclampsia BBJ 82,085 123 81,962 Download
ICD10 Q Polycystic kidney disease BBJ 178,726 510 178,216 Download
ICD10 R Febrile seizure BBJ 175,846 574 175,272 Download
ICD10 S Achilles tendon rupture BBJ 176,291 312 175,979 Download
ICD10 S Compression_ fracture BBJ 178,726 2,856 175,870 Download
ICD10 S Head injury BBJ 178,726 2,440 176,286 Download
ICD10 Z Food allergy BBJ 169,716 3,777 165,939 Download
ATC A Drugs for peptic ulcer and gastro-esophageal reflux disease BBJ 178,726 53,363 125,363 Download
ATC A Drugs used in diabetes BBJ 178,726 30,515 148,211 Download
ATC B Antithrombotic agents BBJ 178,726 54,220 124,506 Download
ATC C Vasodilators used in cardiac diseases BBJ 178,726 17,050 161,676 Download
ATC C Antihypertensives BBJ 178,726 5,688 173,038 Download
ATC C Diuretics BBJ 178,726 22,356 156,370 Download
ATC C Beta blocking agents BBJ 178,726 20,367 158,359 Download
ATC C Calcium channel blockers BBJ 178,726 49,327 129,399 Download
ATC C Agents acting on the renin-angiotensin system BBJ 178,726 45,820 132,906 Download
ATC C HMG CoA reductase inhibitors BBJ 178,726 33,295 145,431 Download
ATC H Thyroid preparations BBJ 178,726 3,103 175,623 Download
ATC L Immunosuppressants BBJ 178,726 3,483 175,243 Download
ATC M Anti-inflammatory and antirheumatic products, non-steroids BBJ 178,726 29,694 149,032 Download
ATC M Drugs affecting bone structure and mineralization BBJ 178,726 6,143 172,583 Download
ATC N Opioids BBJ 178,726 3,566 175,160 Download
ATC N Salicylic acid and derivatives BBJ 178,726 41,461 137,265 Download
ATC N Anilides BBJ 178,726 4,421 174,305 Download
ATC N Antimigraine preparations BBJ 178,726 387 178,339 Download
ATC N Antidepressants BBJ 178,726 3,288 175,438 Download
ATC R Adrenergics, inhalants BBJ 178,726 5,880 172,846 Download
ATC R Glucocorticoids BBJ 178,726 13,102 165,624 Download
ATC R Antihistamines for systemic use BBJ 178,726 10,163 168,563 Download
ATC S Antiglaucoma preparations and miotics BBJ 178,726 5,911 172,815 Download
Anthropometric Body mass index (BMI) BBJ 163,835 - - Download
Anthropometric Body weight (BW) BBJ 165,419 - - Download
Anthropometric Height (Height) BBJ 165,056 - - Download
Blood cell Basophil count (Baso) BBJ 91,908 - - Download
Blood cell Eosinophil count (Eosino) BBJ 93,063 - - Download
Blood cell Hemoglobin (Hb) BBJ 152,447 - - Download
Blood cell Hematocrit (Ht) BBJ 153,015 - - Download
Blood cell Lymphocyte count (Lym) BBJ 95,717 - - Download
Blood cell Mean corpuscular hemoglobin (MCH) BBJ 128,028 - - Download
Blood cell Mean corpuscular hemoglobin concentration (MCHC) BBJ 135,482 - - Download
Blood cell Mean corpuscular volume (MCV) BBJ 129,832 - - Download
Blood cell Monocyte count (Mono) BBJ 95,119 - - Download
Blood cell Neutrophil count (Neutro) BBJ 82,810 - - Download
Blood cell Platelet count (Plt) BBJ 148,623 - - Download
Blood cell Red blood cell count (RBC) BBJ 153,512 - - Download
Blood cell White blood cell count (WBC) BBJ 154,355 - - Download
Blood pressure Diastolic blood pressure (DBP) BBJ 145,515 - - Download
Blood pressure Mean arterial pressure (MAP) BBJ 145,502 - - Download
Blood pressure Pulse pressure (PP) BBJ 145,445 - - Download
Blood pressure Sytolic blood pressure (SBP) BBJ 145,505 - - Download
Electrolytes Calcium (Ca) BBJ 83,980 - - Download
Inflammatory C-reactive protein (CRP) BBJ 83,025 - - Download
Kidney-related Blood urea nitrogen (BUN) BBJ 148,767 - - Download
Kidney-related Uric acids (UA) BBJ 129,405 - - Download
Kidney-related Serum creatinine (sCr) BBJ 150,266 - - Download
Liver-related Alkaline phosphatase (ALP) BBJ 118,886 - - Download
Liver-related Alanine aminotransferase (ALT) BBJ 150,545 - - Download
Liver-related Aspartate transaminase (AST) BBJ 150,068 - - Download
Liver-related G-glutamyl transpeptidase (GGT) BBJ 133,471 - - Download
Liver-related Total Bilirubin (TBil) BBJ 124,341 - - Download
Metabolic Glucose (BS) BBJ 133,336 - - Download
Metabolic HDL-cholesterol (HDL-C) BBJ 74,970 - - Download
Metabolic HbA1c (HbA1c) BBJ 71,221 - - Download
Metabolic LDL-cholesterol (LDL-C) BBJ 72,866 - - Download
Metabolic Total cholesterol (TC) BBJ 135,808 - - Download
Metabolic Triglycerides (TG) BBJ 111,667 - - Download
Protein Albumin (Alb) BBJ 120,539 - - Download
Protein Total protein (TP) BBJ 133,321 - - Download

GWAS summary statistics of European meta-analysis (UK Biobank & FinnGen)

Citation: Sakaue, S. & Kanai, M., et al. A global atlas of genetic associations of 220 deep phenotypes. medRxiv (2020).

Please note that UKB GWAS was conducted based on UKB ICD10/9 mapped to Phecode, and FinnGen GWAS was conducted based on FinnGen endpoint. We recommend you to check the phenotype codings before using these summary statistics.

Link to wget commands for all the files
Category Phenotype Cohort UKB phecode FG endpoint No. samples No. cases No. controls Download link
ICD10 A Diphtheria infection UKB 41 - 354,015 12,431 341,584 Download
ICD10 A Dysentery UKB 8.5 - 349,422 2,733 346,689 Download
ICD10 A Nontuberculous Mycobacterial infection UKB 31 - 341,610 26 341,584 Download
ICD10 A Pulmonary tuberculosis UKB+FG 10 AB1_TUBERCULOSIS 477,386 895 476,491 Download
ICD10 A Typhoid fever UKB 8.5 - 349,422 2,733 346,689 Download
ICD10 B Acute hepatitis by Hepatitis A virus UKB 70.1 - 351,809 69 351,740 Download
ICD10 B Chronic hepatitis B UKB 70.2 - 351,885 145 351,740 Download
ICD10 B Chronic hepatitis C UKB 70.3 - 352,013 273 351,740 Download
ICD10 B Herpes infection UKB 54 - 352,053 313 351,740 Download
ICD10 B Ringworm UKB 110.2 - 354,544 46 354,498 Download
ICD10 B Zoster infection UKB 53 - 352,262 522 351,740 Download
ICD10 C Breast cancer UKB+FG 174.1 C3_BREAST 257,730 17,389 240,341 Download
ICD10 C Brain tumor UKB+FG 191.11 C3_BRAIN 491,542 833 490,709 Download
ICD10 C Cancer of hepatic bile ducts UKB+FG 155/159.3 C3_LIVER_INTRAHEPATIC_BILE_DUCTS 476,091 832 475,259 Download
ICD10 C Colorectal cancer UKB+FG 153 C3_COLON 470,002 6,581 463,421 Download
ICD10 C Cervical cancer UKB+FG 180.1 C3_CERVIX_UTERI 239,158 909 238,249 Download
ICD10 C Endometrial cancer UKB+FG 182 C3_CORPUS_UTERI 240,027 2,188 237,839 Download
ICD10 C Esophageal cancer UKB+FG 150 C3_OESOPHAGUS 476,306 998 475,308 Download
ICD10 C Gastric cancer UKB+FG 151 C3_STOMACH 476,116 1,029 475,087 Download
ICD10 C Hepatic cancer UKB+FG 155.1 C3_LIVER_INTRAHEPATIC_BILE_DUCTS 475,638 379 475,259 Download
ICD10 C Lung cancer UKB+FG 165.1 C3_BRONCHUS_LUNG 492,803 3,791 489,012 Download
ICD10 C Malignant lymphoma UKB+FG 201/202 CD2_NONFOLLICULAR_LYMPHOMA 490,803 3,546 487,257 Download
ICD10 C Ovarian cancer UKB+FG 184.11 C3_OVARY 246,520 1,588 244,932 Download
ICD10 C Pancreatic cancer UKB+FG 157 C3_PANCREAS 476,245 1,196 475,049 Download
ICD10 C Pharyngeal and laryngeal cancer UKB 149.4 - 355,564 329 355,235 Download
ICD10 C Prostate cancer UKB+FG 185 C3_PROSTATE 211,227 11,599 199,628 Download
ICD10 C Skin cancer UKB+FG 172.11/172.2 C3_OTHER_SKIN 492,203 25,928 466,275 Download
ICD10 C Thyroid cancer UKB+FG 193 C3_THYROID_GLAND 491,974 1,054 490,920 Download
ICD10 D Aplastic anemia UKB+FG 284 D3_APLASTICANDOTHANAEMIA 473,500 4,128 469,372 Download
ICD10 D Idiopathic thrombocytopenic purpura UKB+FG 287.31 D3_ITP 489,424 675 488,749 Download
ICD10 D Iron deficiency anemia UKB+FG 280.1 D3_ANAEMIA_IRONDEF 480,941 12,317 468,624 Download
ICD10 D Sarcoidosis UKB+FG 697 D3_SARCOIDOSIS 486,673 1,718 484,955 Download
ICD10 D Uterine fibroid UKB+FG 218.1 CD2_BENIGN_LEIOMYOMA_UTERI 258,718 21,024 237,694 Download
ICD10 E Diabetic nephropathy UKB+FG 250.22 E4_DM2REN 452,280 1,032 451,248 Download
ICD10 E Grave's disease UKB+FG 242.1 E4_THYTOXGOITDIF 458,620 1,678 456,942 Download
ICD10 E Goiter UKB+FG 240 E4_GOITREMULTINOD 459,653 2,711 456,942 Download
ICD10 E Hashimoto's disease UKB+FG 245.21 HYPOTHYROIDISM 395,640 15,654 379,986 Download
ICD10 E Hyperthyroidism UKB+FG 242 E4_THYTOXNAS 460,499 3,557 456,942 Download
ICD10 E Hypothyroidism UKB+FG 244.4 HYPOTHYROIDISM 410,141 30,155 379,986 Download
ICD10 E Type 1 diabetes UKB+FG 250.1 E4_DM1 457,695 6,447 451,248 Download
ICD10 E Toxic epidermal necrolysis (Stevens-Johnson syndrome) UKB+FG 695.1 L12_ERYTHEMAMULTIF 483,323 312 483,011 Download
ICD10 F Depression UKB+FG 296.22 F5_DEPRESSIO 449,414 13,559 435,855 Download
ICD10 F Insomnia UKB+FG 327.4 F5_SLEEP 486,627 1,402 485,225 Download
ICD10 F Schizophrenia UKB+FG 295.1 F5_SCHIZO 451,454 6,334 445,120 Download
ICD10 F Substance dependence UKB+FG 290.3 F5_OTHERSUB 483,856 868 482,988 Download
ICD10 G Carpal tunnel syndrome UKB+FG 351 G6_CARPTU 480,201 18,855 461,346 Download
ICD10 G Epilepsy UKB+FG 345.1 G6_EPLEPSY 458,310 4,382 453,928 Download
ICD10 G Facial nerve palsy (Bell's palsy) UKB+FG 352.2 G6_BELLPA 463,240 1,894 461,346 Download
ICD10 G Myasthenia gravis UKB 358.1 - 355,142 197 354,945 Download
ICD10 G Parkinson's disease UKB+FG 332 G6_PARKINSON 480,018 2,638 477,380 Download
ICD10 G Sleep apnea syndrome UKB+FG 327.3 G6_SLEEPAPNO 476,853 13,818 463,035 Download
ICD10 H Allergic conjunctivitis UKB+FG 369.5 H7_CONJUNCTIVITISATOPIC 475,270 613 474,657 Download
ICD10 H Chronic suppurative otitis media UKB+FG 381.11 H8_CHRON_SUPOTITIS 484,145 1,108 483,037 Download
ICD10 H Cataract UKB+FG 366 H7_CATARACTSENILE 491,877 39,519 452,358 Download
ICD10 H Glaucoma UKB+FG 365 H7_GLAUCOMA 484,979 10,411 474,568 Download
ICD10 H Hearing loss, difficulty in hearing UKB+FG 389 H8_HL_SEN_NAS 489,493 14,654 474,839 Download
ICD10 H Iritis UKB+FG 371.1 H7_IRIDOCYCLITIS 480,742 2,616 478,126 Download
ICD10 H Meniere's disease UKB+FG 386.1 H8_MENIERE 482,774 1,526 481,248 Download
ICD10 H Retinal detachment UKB+FG 361 H7_RETINALDETACH 477,031 6,591 470,440 Download
ICD10 H Retinitis pigmentosa FG - H7_HEREDRETINADYST 126,454 121 126,333 Download
ICD10 H Uveitis UKB+FG 371.1 H7_IRIDOCYCLITIS 480,742 2,616 478,126 Download
ICD10 I Aortic aneurysm UKB+FG 442.1 I9_AORTANEUR 479,194 3,230 475,964 Download
ICD10 I Angina pectoris UKB+FG 411.3 I9_ANGINA 470,931 30,025 440,906 Download
ICD10 I Chronic heart failure UKB+FG 428.1/428.2 I9_HEARTFAIL 486,160 14,262 471,898 Download
ICD10 I Cardiac valvular disease UKB+FG 394 I9_VHD 465,527 25,070 440,457 Download
ICD10 I Cardiomegaly UKB 416 - 353,126 3,233 349,893 Download
ICD10 I Cerebral aneurysm UKB+FG 433.5 I9_ANEURYSM 473,683 945 472,738 Download
ICD10 I Dilated cardiomyopathy UKB 425.1 - 355,381 1,444 353,937 Download
ICD10 I Esophageal varix UKB+FG 530.2 I9_VARICVEOES 436,154 2,135 434,019 Download
ICD10 I Hypertrophic cardiomyopathy UKB+FG 425.11 I9_HYPERTROCARDMYOP 489,727 507 489,220 Download
ICD10 I Ischemic stroke UKB+FG 433.1/433.2 I9_STR_EXH 484,121 11,929 472,192 Download
ICD10 I Intracerebral hemorrhage UKB+FG 430.2 I9_ICH 473,513 1,935 471,578 Download
ICD10 I Myocardial infarction UKB+FG 411.2 I9_MI 461,823 20,917 440,906 Download
ICD10 I Myocarditis UKB+FG 420.1 I9_MYOCARD 427,911 633 427,278 Download
ICD10 I Peripheral arterial disease UKB+FG 443.9 I9_PAD 483,078 7,114 475,964 Download
ICD10 I Pericarditis UKB+FG 420.2 I9_PERICARD 455,165 1,795 453,370 Download
ICD10 I Rheumatic fever UKB+FG 41.21 I9_RHEUFEV 477,240 390 476,850 Download
ICD10 I Stable angina pectoris UKB 411.3 - 343,026 17,894 325,132 Download
ICD10 I Subarachnoid hemorrhage UKB+FG 430.1 I9_SAH 473,255 1,693 471,562 Download
ICD10 I Unruptured cerebral aneurysm UKB+FG 433.5 I9_ANEURYSM 473,683 945 472,738 Download
ICD10 I Unstable angina pectoris UKB+FG 411.1 I9_UAP 456,468 9,481 446,987 Download
ICD10 I Varicose UKB+FG 454.1 I9_VARICVE 459,702 22,037 437,665 Download
ICD10 I Ventricular arrhythmia UKB 427.12/427.41 - 328,216 1,018 327,198 Download
ICD10 J Allergic rhinitis UKB+FG 476 ALLERG_RHINITIS 475,660 4,387 471,273 Download
ICD10 J Asthma UKB+FG 495 J10_ASTHMA 449,500 38,369 411,131 Download
ICD10 J Bronchiectasis UKB+FG 496.3 J10_BRONCHIECTASIS 443,151 2,888 440,263 Download
ICD10 J Bronchitis UKB+FG 483 J10_BRONCHITIS 479,301 4,483 474,818 Download
ICD10 J Chronic obstructive pulmonary disease UKB+FG 496.21 COPD_EARLYANDLATER 468,475 13,530 454,945 Download
ICD10 J Chronic sinusitis UKB+FG 475 J10_CHRONSINUSITIS 452,495 7,529 444,966 Download
ICD10 J Chronic bronchitis UKB+FG 496.2 J10_SIMPLBRONCH 450,422 10,159 440,263 Download
ICD10 J Interstitial lung disease UKB+FG 502/504 ILD 469,827 2,267 467,560 Download
ICD10 J Nasal polyp UKB+FG 471 J10_NASALPOLYP 450,059 5,093 444,966 Download
ICD10 J Pediatric asthma UKB+FG 495 ASTHMA_CHILD 438,843 27,712 411,131 Download
ICD10 J Pleurisy UKB+FG 507 J10_PLEUREFFUSION 484,515 8,528 475,987 Download
ICD10 J Pneumoconiosis UKB+FG 500.2 J10_ASBESTPNEUMOC 479,040 433 478,607 Download
ICD10 J Pneumonia UKB+FG 480 J10_PNEUMOBACTEROTH 480,299 16,887 463,412 Download
ICD10 J Pneumothorax UKB+FG 506 J10_PNEUMOTHORAX 477,734 1,747 475,987 Download
ICD10 J Pollinosis UKB+FG 476 POLLENALLERG 475,378 2,894 472,484 Download
ICD10 J Pulmonary Fibrosis UKB+FG 502 IPF 469,126 1,566 467,560 Download
ICD10 J Tonsillitis UKB+FG 474.1 J10_TONSILLITIS 458,829 4,712 454,117 Download
ICD10 K Autoimmune hepatitis UKB+FG 70.4 K11_OTHINFLIV 485,234 821 484,413 Download
ICD10 K Acute pancreatitis UKB+FG 577.1 K11_ACUTPANC 479,902 3,798 476,104 Download
ICD10 K Cholecystitis UKB+FG 574.11/574.12/574.3 K11_CHOLECYST 471,251 9,820 461,431 Download
ICD10 K Cholelithiasis UKB+FG 574.1 K11_CHOLELITH 487,553 26,122 461,431 Download
ICD10 K Chronic pancreatitis UKB+FG 577.2 K11_CHRONPANC 477,528 1,424 476,104 Download
ICD10 K Chronic gastritis UKB+FG 535.2 K11_CHRONGASTR 445,096 3,645 441,451 Download
ICD10 K Cirrhosis UKB 571.51 - 347,406 122 347,284 Download
ICD10 K Constipation UKB+FG 563 K11_OTHFUNC 411,623 15,902 395,721 Download
ICD10 K Gall bladder polyp UKB 575.6 NA 340,541 458 340,083 Download
ICD10 K Gastroesophageal reflux disease UKB+FG 530.11 K11_REFLUX 467,253 32,957 434,296 Download
ICD10 K Gastric ulcer UKB+FG 531.2 K11_GULC 474,278 6,293 467,985 Download
ICD10 K Ileus UKB+FG 560.1 K11_ILEUS 398,632 2,911 395,721 Download
ICD10 K Periodontal disease UKB 523 - 348,926 1,740 347,186 Download
ICD10 K Ulcerative colitis UKB+FG 555.2 K11_ULCER 417,932 5,371 412,561 Download
ICD10 L Atopic dermatitis UKB+FG 939 L12_ATOPIC 481,299 6,224 475,075 Download
ICD10 L Contact dermatitis UKB+FG 939 L12_ALLERGICCONTACT 478,766 3,691 475,075 Download
ICD10 L Keloid UKB+FG 701.4 L12_HYPERTROPHICSKIN 481,912 668 481,244 Download
ICD10 L Metal allergy UKB 939 - 353,313 2,409 350,904 Download
ICD10 L Psoriasis vulgaris UKB+FG 696.4 L12_PSORIASIS 483,174 5,072 478,102 Download
ICD10 L Type 2 diabetes UKB+FG 250.2 E4_DM2 490,089 38,841 451,248 Download
ICD10 L Tatto UKB 694.2 - 351,833 810 351,023 Download
ICD10 L Urticaria UKB+FG 947 L12_URTICA_ALLERG 483,949 1,057 482,892 Download
ICD10 M Back pain UKB+FG 760 M13_LOWBACKPAIN 468,269 22,413 445,856 Download
ICD10 M Behcet's disease UKB 711.3 - 317,252 27 317,225 Download
ICD10 M Juvenile rheumatoid arthritis UKB+FG 714.2 M13_JUVERHEU 409,217 216 409,001 Download
ICD10 M Polymyositis UKB 709.4 NA 350,272 44 350,228 Download
ICD10 M Rheumatoid arthritis UKB+FG 714.1 M13_RHEUMA 417,256 8,255 409,001 Download
ICD10 M Systemic lupus erythematoss UKB+FG 695.42 M13_SLE 482,911 647 482,264 Download
ICD10 M Sjogren's syndrome UKB+FG 709.2 M13_SJOGREN 484,013 1,296 482,717 Download
ICD10 M Spinal canal stenosis UKB+FG 720 M13_SPINSTENOSIS 454,787 9,660 445,127 Download
ICD10 N Acute glomerulonephritis UKB+FG 580.11 N14_ACUTENEPHRITIC 475,529 274 475,255 Download
ICD10 N Acute renal failure UKB+FG 585.1 N14_ACUTERENFAIL 482,266 7,695 474,571 Download
ICD10 N Chronic glomerulonephritis UKB+FG 580.12 N14_CHRONEPHROPATH 475,821 566 475,255 Download
ICD10 N Chronic renal failure UKB+FG 585.3 N14_CHRONKIDNEYDIS 482,858 8,287 474,571 Download
ICD10 N Cystitis UKB+FG 592.11 N14_CYSTITIS 455,615 4,921 450,694 Download
ICD10 N Endometriosis UKB+FG 615 N14_ENDOMETRIOSIS_NOS 231,771 4,511 227,260 Download
ICD10 N IgA nephritis UKB+FG 593 N14_RECURANDPERHEAMATUR 477,784 15,587 462,197 Download
ICD10 N Mastopathy UKB+FG 610.1 N14_BENIGNMAMDYSP 259,849 2,541 257,308 Download
ICD10 N Nephrotic syndrome UKB+FG 580.2 N14_NEPHROTICSYND 476,030 775 475,255 Download
ICD10 N Neuropathic bladder UKB+FG 596.5 N14_NEUROMUSCDYSBLADD 467,030 2,237 464,793 Download
ICD10 N Ovarian cyst UKB+FG 628 N14_OVARYCYST 218,469 10,847 207,622 Download
ICD10 N Pyelonephritis UKB+FG 590 N14_PYELONEPHR 462,487 7,992 454,495 Download
ICD10 N Urolithiasis UKB+FG 594.1 N14_CALCUKIDUR 488,346 6,223 482,123 Download
ICD10 N Uterine prolapse UKB+FG 618.2 N14_FEMGENPROL 234,822 10,647 224,175 Download
ICD10 O Abortion UKB+FG 634 O15_ABORT_SPONTAN 257,561 7,069 250,492 Download
ICD10 O Cesarian section UKB+FG 669 O15_DELIV_CAESAR 243,071 5,336 237,735 Download
ICD10 O Ectopic pregnancy UKB+FG 634.3 O15_PREG_ECTOP 252,006 1,514 250,492 Download
ICD10 O Pre-eclampsia UKB+FG 642 O15_PREECLAMPS 267,242 2,355 264,887 Download
ICD10 Q Polycystic kidney disease UKB 751.21 - 355,855 424 355,431 Download
ICD10 R Febrile seizure UKB 345.3 - 345,331 2,366 342,965 Download
ICD10 S Achilles tendon rupture UKB 1009 - 357,658 7,746 349,912 Download
ICD10 S Compression_ fracture UKB 805 - 337,779 1,796 335,983 Download
ICD10 S Head injury UKB 1009 - 357,658 7,746 349,912 Download
ICD10 Z Food allergy UKB 930 - 351,086 182 350,904 Download
ATC A Drugs for peptic ulcer and gastro-esophageal reflux disease UKB - - 132,367 53,137 79,230 Download
ATC A Drugs used in diabetes UKB - - 305,913 15,272 290,641 Download
ATC B Antithrombotic agents UKB - - 153,639 67,653 85,986 Download
ATC C Vasodilators used in cardiac diseases UKB - - 242,659 5,546 237,113 Download
ATC C Antihypertensives UKB - - 152,380 6,431 145,949 Download
ATC C Diuretics UKB - - 229,086 34,453 194,633 Download
ATC C Beta blocking agents UKB - - 224,024 31,700 192,324 Download
ATC C Calcium channel blockers UKB - - 204,378 31,904 172,474 Download
ATC C Agents acting on the renin-angiotensin system UKB - - 237,530 62,752 174,778 Download
ATC C HMG CoA reductase inhibitors UKB - - 290,385 73,475 216,910 Download
ATC H Thyroid preparations UKB - - 305,582 24,832 280,750 Download
ATC L Immunosuppressants UKB - - 272,602 3,954 268,648 Download
ATC M Anti-inflammatory and antirheumatic products, non-steroids UKB - - 164,520 74,150 90,370 Download
ATC M Drugs affecting bone structure and mineralization UKB - - 215,668 7,870 207,798 Download
ATC N Opioids UKB - - 78,808 22,982 55,826 Download
ATC N Salicylic acid and derivatives UKB - - 112,010 61,583 50,427 Download
ATC N Anilides UKB - - 179,810 83,218 96,592 Download
ATC N Antimigraine preparations UKB - - 119,844 5,521 114,323 Download
ATC N Antidepressants UKB - - 304,162 33,757 270,405 Download
ATC R Adrenergics, inhalants UKB - - 176,445 28,880 147,565 Download
ATC R Glucocorticoids UKB - - 205,700 17,352 188,348 Download
ATC R Antihistamines for systemic use UKB - - 151,636 13,984 137,652 Download
ATC S Antiglaucoma preparations and miotics UKB - - 100,868 5,215 95,653 Download
Anthropometric Body mass index (BMI) UKB - - 359,983 - - Download
Anthropometric Body weight (BW) UKB - - 360,116 - - Download
Anthropometric Height (Height) UKB - - 360,388 - - Download
Blood cell Basophil count (Baso) UKB - - 349,856 - - Download
Blood cell Eosinophil count (Eosino) UKB - - 349,856 - - Download
Blood cell Hemoglobin (Hb) UKB - - 350,474 - - Download
Blood cell Hematocrit (Ht) UKB - - 350,475 - - Download
Blood cell Lymphocyte count (Lym) UKB - - 349,856 - - Download
Blood cell Mean corpuscular hemoglobin (MCH) UKB - - 350,472 - - Download
Blood cell Mean corpuscular hemoglobin concentration (MCHC) UKB - - 350,468 - - Download
Blood cell Mean corpuscular volume (MCV) UKB - - 350,473 - - Download
Blood cell Monocyte count (Mono) UKB - - 349,856 - - Download
Blood cell Neutrophil count (Neutro) UKB - - 349,856 - - Download
Blood cell Platelet count (Plt) UKB - - 350,474 - - Download
Blood cell Red blood cell count (RBC) UKB - - 350,475 - - Download
Blood cell White blood cell count (WBC) UKB - - 350,470 - - Download
Blood pressure Diastolic blood pressure (DBP) UKB - - 340,162 - - Download
Blood pressure Mean arterial pressure (MAP) UKB - - 360,863 - - Download
Blood pressure Pulse pressure (PP) UKB - - 360,863 - - Download
Blood pressure Sytolic blood pressure (SBP) UKB - - 340,159 - - Download
Electrolytes Calcium (Ca) UKB - - 315,153 - - Download
Inflammatory C-reactive protein (CRP) UKB - - 353,466 - - Download
Kidney-related Blood urea nitrogen (BUN) UKB - - 344,052 - - Download
Kidney-related Uric acids (UA) UKB - - 343,836 - - Download
Kidney-related Serum creatinine (sCr) UKB - - 344,104 - - Download
Liver-related Alkaline phosphatase (ALP) UKB - - 344,292 - - Download
Liver-related Alanine aminotransferase (ALT) UKB - - 344,136 - - Download
Liver-related Aspartate transaminase (AST) UKB - - 342,990 - - Download
Liver-related G-glutamyl transpeptidase (GGT) UKB - - 344,104 - - Download
Liver-related Total Bilirubin (TBil) UKB - - 342,829 - - Download
Metabolic Glucose (BS) UKB - - 314,916 - - Download
Metabolic HDL-cholesterol (HDL-C) UKB - - 315,133 - - Download
Metabolic HbA1c (HbA1c) UKB - - 344,182 - - Download
Metabolic LDL-cholesterol (LDL-C) UKB - - 343,621 - - Download
Metabolic Total cholesterol (TC) UKB - - 344,278 - - Download
Metabolic Triglycerides (TG) UKB - - 343,992 - - Download
Protein Albumin (Alb) UKB - - 315,268 - - Download
Protein Total protein (TP) UKB - - 314,921 - - Download

GWAS summary statistics of cross-population meta-analysis (BBJ & UK Biobank & FinnGen)

Citation: Sakaue, S. & Kanai, M., et al. A global atlas of genetic associations of 220 deep phenotypes. medRxiv (2020).

Please note that UKB GWAS was conducted based on UKB ICD10/9 mapped to Phecode, and FinnGen GWAS was conducted based on FinnGen endpoint. We recommend you to check the phenotype codings before using these summary statistics.

Link to wget commands for all the files
Category Phenotype Cohort UKB phecode FG endpoint No. samples No. cases No. controls Download link
ICD10 A Diphtheria infection BBJ+UKB 41 - 524,803 12,972 511,831 Download
ICD10 A Dysentery BBJ+UKB 8.5 - 527,904 3,144 524,760 Download
ICD10 A Nontuberculous Mycobacterial infection BBJ+UKB 31 - 513,994 90 513,904 Download
ICD10 A Pulmonary tuberculosis BBJ+UKB+FG 10 AB1_TUBERCULOSIS 656,057 8,695 647,362 Download
ICD10 A Typhoid fever BBJ+UKB 8.5 - 527,750 2,990 524,760 Download
ICD10 B Acute hepatitis by Hepatitis A virus BBJ+UKB 70.1 - 518,673 330 518,343 Download
ICD10 B Chronic hepatitis B BBJ+UKB 70.2 - 523,707 2,379 521,328 Download
ICD10 B Chronic hepatitis C BBJ+UKB 70.3 - 528,711 7,383 521,328 Download
ICD10 B Herpes infection BBJ+UKB 54 - 519,428 1,085 518,343 Download
ICD10 B Ringworm BBJ+UKB 110.2 - 533,270 738 532,532 Download
ICD10 B Zoster infection BBJ+UKB 53 - 521,074 2,731 518,343 Download
ICD10 C Breast cancer BBJ+UKB+FG 174.1 C3_BREAST 337,280 23,714 313,566 Download
ICD10 C Brain tumor BBJ+UKB+FG 191.11 C3_BRAIN 670,268 1,238 669,030 Download
ICD10 C Cancer of hepatic bile ducts BBJ+UKB+FG 155/159.3 C3_LIVER_INTRAHEPATIC_BILE_DUCTS 635,710 1,250 634,460 Download
ICD10 C Colorectal cancer BBJ+UKB+FG 153 C3_COLON 637,693 14,886 622,807 Download
ICD10 C Cervical cancer BBJ+UKB+FG 180.1 C3_CERVIX_UTERI 300,739 1,876 298,863 Download
ICD10 C Endometrial cancer BBJ+UKB+FG 182 C3_CORPUS_UTERI 301,841 3,388 298,453 Download
ICD10 C Esophageal cancer BBJ+UKB+FG 150 C3_OESOPHAGUS 636,895 2,386 634,509 Download
ICD10 C Gastric cancer BBJ+UKB+FG 151 C3_STOMACH 643,238 8,950 634,288 Download
ICD10 C Hepatic cancer BBJ+UKB+FG 155.1 C3_LIVER_INTRAHEPATIC_BILE_DUCTS 636,961 2,501 634,460 Download
ICD10 C Lung cancer BBJ+UKB+FG 165.1 C3_BRONCHUS_LUNG 671,529 8,235 663,294 Download
ICD10 C Malignant lymphoma BBJ+UKB+FG 201/202 CD2_NONFOLLICULAR_LYMPHOMA 668,480 3,881 664,599 Download
ICD10 C Ovarian cancer BBJ+UKB+FG 184.11 C3_OVARY 307,977 2,431 305,546 Download
ICD10 C Pancreatic cancer BBJ+UKB+FG 157 C3_PANCREAS 635,945 1,695 634,250 Download
ICD10 C Pharyngeal and laryngeal cancer BBJ+UKB 149.4 - 534,290 629 533,661 Download
ICD10 C Prostate cancer BBJ+UKB+FG 185 C3_PROSTATE 301,559 17,271 284,288 Download
ICD10 C Skin cancer BBJ+UKB+FG 172.11/172.2 C3_OTHER_SKIN 670,929 26,082 644,847 Download
ICD10 C Thyroid cancer BBJ+UKB+FG 193 C3_THYROID_GLAND 670,697 1,415 669,282 Download
ICD10 D Aplastic anemia BBJ+UKB+FG 284 D3_APLASTICANDOTHANAEMIA 647,610 4,181 643,429 Download
ICD10 D Idiopathic thrombocytopenic purpura BBJ+UKB+FG 287.31 D3_ITP 668,150 843 667,307 Download
ICD10 D Iron deficiency anemia BBJ+UKB+FG 280.1 D3_ANAEMIA_IRONDEF 659,616 16,935 642,681 Download
ICD10 D Sarcoidosis BBJ+UKB+FG 697 D3_SARCOIDOSIS 664,560 1,938 662,622 Download
ICD10 D Uterine fibroid BBJ+UKB+FG 218.1 CD2_BENIGN_LEIOMYOMA_UTERI 338,926 35,499 303,427 Download
ICD10 E Diabetic nephropathy BBJ+UKB+FG 250.22 E4_DM2REN 585,264 1,252 584,012 Download
ICD10 E Grave's disease BBJ+UKB+FG 242.1 E4_THYTOXGOITDIF 634,085 4,487 629,598 Download
ICD10 E Goiter BBJ+UKB+FG 240 E4_GOITREMULTINOD 633,436 3,838 629,598 Download
ICD10 E Hashimoto's disease BBJ+UKB+FG 245.21 HYPOTHYROIDISM 568,833 16,191 552,642 Download
ICD10 E Hyperthyroidism BBJ+UKB+FG 242 E4_THYTOXNAS 634,149 4,551 629,598 Download
ICD10 E Hypothyroidism BBJ+UKB+FG 244.4 HYPOTHYROIDISM 583,911 31,269 552,642 Download
ICD10 E Type 1 diabetes BBJ+UKB+FG 250.1 E4_DM1 590,946 7,666 583,280 Download
ICD10 E Toxic epidermal necrolysis (Stevens-Johnson syndrome) BBJ+UKB+FG 695.1 L12_ERYTHEMAMULTIF 655,169 405 654,764 Download
ICD10 F Depression BBJ+UKB+FG 296.22 F5_DEPRESSIO 628,044 14,395 613,649 Download
ICD10 F Insomnia BBJ+UKB+FG 327.4 F5_SLEEP 664,880 1,791 663,089 Download
ICD10 F Schizophrenia BBJ+UKB+FG 295.1 F5_SCHIZO 629,347 6,433 622,914 Download
ICD10 F Substance dependence BBJ+UKB+FG 290.3 F5_OTHERSUB 662,582 986 661,596 Download
ICD10 G Carpal tunnel syndrome BBJ+UKB+FG 351 G6_CARPTU 658,927 19,047 639,880 Download
ICD10 G Epilepsy BBJ+UKB+FG 345.1 G6_EPLEPSY 636,564 6,848 629,716 Download
ICD10 G Facial nerve palsy (Bell's palsy) BBJ+UKB+FG 352.2 G6_BELLPA 641,774 2,237 639,537 Download
ICD10 G Myasthenia gravis BBJ+UKB 358.1 - 533,853 278 533,575 Download
ICD10 G Parkinson's disease BBJ+UKB+FG 332 G6_PARKINSON 656,146 2,978 653,168 Download
ICD10 G Sleep apnea syndrome BBJ+UKB+FG 327.3 G6_SLEEPAPNO 655,190 14,291 640,899 Download
ICD10 H Allergic conjunctivitis BBJ+UKB+FG 369.5 H7_CONJUNCTIVITISATOPIC 653,889 4,513 649,376 Download
ICD10 H Chronic suppurative otitis media BBJ+UKB+FG 381.11 H8_CHRON_SUPOTITIS 662,871 3,314 659,557 Download
ICD10 H Cataract BBJ+UKB+FG 366 H7_CATARACTSENILE 670,603 77,713 592,890 Download
ICD10 H Glaucoma BBJ+UKB+FG 365 H7_GLAUCOMA 662,330 18,859 643,471 Download
ICD10 H Hearing loss, difficulty in hearing BBJ+UKB+FG 389 H8_HL_SEN_NAS 668,219 18,054 650,165 Download
ICD10 H Iritis BBJ+UKB+FG 371.1 H7_IRIDOCYCLITIS 656,395 2,726 653,669 Download
ICD10 H Meniere's disease BBJ+UKB+FG 386.1 H8_MENIERE 661,500 2,816 658,684 Download
ICD10 H Retinal detachment BBJ+UKB+FG 361 H7_RETINALDETACH 647,323 7,980 639,343 Download
ICD10 H Retinitis pigmentosa BBJ+FG - H7_HEREDRETINADYST 295,512 276 295,236 Download
ICD10 H Uveitis BBJ+UKB+FG 371.1 H7_IRIDOCYCLITIS 655,467 2,741 652,726 Download
ICD10 I Aortic aneurysm BBJ+UKB+FG 442.1 I9_AORTANEUR 653,950 4,385 649,565 Download
ICD10 I Angina pectoris BBJ+UKB+FG 411.3 I9_ANGINA 630,096 44,032 586,064 Download
ICD10 I Chronic heart failure BBJ+UKB+FG 428.1/428.2 I9_HEARTFAIL 664,886 24,802 640,084 Download
ICD10 I Cardiac valvular disease BBJ+UKB+FG 394 I9_VHD 644,253 27,065 617,188 Download
ICD10 I Cardiomegaly BBJ+UKB 416 - 531,852 3,976 527,876 Download
ICD10 I Cerebral aneurysm BBJ+UKB+FG 433.5 I9_ANEURYSM 628,837 4,077 624,760 Download
ICD10 I Dilated cardiomyopathy BBJ+UKB 425.1 - 533,543 1,861 531,682 Download
ICD10 I Esophageal varix BBJ+UKB+FG 530.2 I9_VARICVEOES 613,934 2,399 611,535 Download
ICD10 I Hypertrophic cardiomyopathy BBJ+UKB+FG 425.11 I9_HYPERTROCARDMYOP 667,855 890 666,965 Download
ICD10 I Ischemic stroke BBJ+UKB+FG 433.1/433.2 I9_STR_EXH 658,807 34,593 624,214 Download
ICD10 I Intracerebral hemorrhage BBJ+UKB+FG 430.2 I9_ICH 626,991 3,391 623,600 Download
ICD10 I Myocardial infarction BBJ+UKB+FG 411.2 I9_MI 623,029 35,909 587,120 Download
ICD10 I Myocarditis BBJ+UKB+FG 420.1 I9_MYOCARD 605,758 735 605,023 Download
ICD10 I Peripheral arterial disease BBJ+UKB+FG 443.9 I9_PAD 660,791 11,226 649,565 Download
ICD10 I Pericarditis BBJ+UKB+FG 420.2 I9_PERICARD 632,999 1,884 631,115 Download
ICD10 I Rheumatic fever BBJ+UKB+FG 41.21 I9_RHEUFEV 647,639 542 647,097 Download
ICD10 I Stable angina pectoris BBJ+UKB 411.3 - 508,073 36,727 471,346 Download
ICD10 I Subarachnoid hemorrhage BBJ+UKB+FG 430.1 I9_SAH 626,480 2,896 623,584 Download
ICD10 I Unruptured cerebral aneurysm BBJ+UKB+FG 433.5 I9_ANEURYSM 625,796 1,036 624,760 Download
ICD10 I Unstable angina pectoris BBJ+UKB+FG 411.1 I9_UAP 608,573 15,372 593,201 Download
ICD10 I Varicose BBJ+UKB+FG 454.1 I9_VARICVE 638,428 22,511 615,917 Download
ICD10 I Ventricular arrhythmia BBJ+UKB 427.12/427.41 - 485,429 2,691 482,738 Download
ICD10 J Allergic rhinitis BBJ+UKB+FG 476 ALLERG_RHINITIS 637,223 12,284 624,939 Download
ICD10 J Asthma BBJ+UKB+FG 495 J10_ASTHMA 625,448 51,384 574,064 Download
ICD10 J Bronchiectasis BBJ+UKB+FG 496.3 J10_BRONCHIECTASIS 605,195 3,129 602,066 Download
ICD10 J Bronchitis BBJ+UKB+FG 483 J10_BRONCHITIS 650,766 5,948 644,818 Download
ICD10 J Chronic obstructive pulmonary disease BBJ+UKB+FG 496.21 COPD_EARLYANDLATER 635,145 17,547 617,598 Download
ICD10 J Chronic sinusitis BBJ+UKB+FG 475 J10_CHRONSINUSITIS 609,338 12,146 597,192 Download
ICD10 J Chronic bronchitis BBJ+UKB+FG 496.2 J10_SIMPLBRONCH 612,496 10,430 602,066 Download
ICD10 J Interstitial lung disease BBJ+UKB+FG 502/504 ILD 647,847 3,313 644,534 Download
ICD10 J Nasal polyp BBJ+UKB+FG 471 J10_NASALPOLYP 602,065 5,253 596,812 Download
ICD10 J Pediatric asthma BBJ+UKB+FG 495 ASTHMA_CHILD 601,193 28,259 572,934 Download
ICD10 J Pleurisy BBJ+UKB+FG 507 J10_PLEUREFFUSION 662,030 9,069 652,961 Download
ICD10 J Pneumoconiosis BBJ+UKB+FG 500.2 J10_ASBESTPNEUMOC 656,099 518 655,581 Download
ICD10 J Pneumonia BBJ+UKB+FG 480 J10_PNEUMOBACTEROTH 659,025 24,310 634,715 Download
ICD10 J Pneumothorax BBJ+UKB+FG 506 J10_PNEUMOTHORAX 654,724 2,439 652,285 Download
ICD10 J Pollinosis BBJ+UKB+FG 476 POLLENALLERG 647,637 21,487 626,150 Download
ICD10 J Pulmonary Fibrosis BBJ+UKB+FG 502 IPF 646,226 1,692 644,534 Download
ICD10 J Tonsillitis BBJ+UKB+FG 474.1 J10_TONSILLITIS 611,095 5,132 605,963 Download
ICD10 K Autoimmune hepatitis BBJ+UKB+FG 70.4 K11_OTHINFLIV 651,848 906 650,942 Download
ICD10 K Acute pancreatitis BBJ+UKB+FG 577.1 K11_ACUTPANC 658,200 4,625 653,575 Download
ICD10 K Cholecystitis BBJ+UKB+FG 574.11/574.12/574.3 K11_CHOLECYST 641,364 11,680 629,684 Download
ICD10 K Cholelithiasis BBJ+UKB+FG 574.1 K11_CHOLELITH 665,111 35,427 629,684 Download
ICD10 K Chronic pancreatitis BBJ+UKB+FG 577.2 K11_CHRONPANC 655,456 1,881 653,575 Download
ICD10 K Chronic gastritis BBJ+UKB+FG 535.2 K11_CHRONGASTR 623,822 4,389 619,433 Download
ICD10 K Cirrhosis BBJ+UKB 571.51 - 526,132 2,673 523,459 Download
ICD10 K Constipation BBJ+UKB+FG 563 K11_OTHFUNC 588,252 16,299 571,953 Download
ICD10 K Gall bladder polyp BBJ+UKB 575.6 NA 508,843 1301 507,542 Download
ICD10 K Gastroesophageal reflux disease BBJ+UKB+FG 530.11 K11_REFLUX 645,717 33,905 611,812 Download
ICD10 K Gastric ulcer BBJ+UKB+FG 531.2 K11_GULC 648,155 18,943 629,212 Download
ICD10 K Ileus BBJ+UKB+FG 560.1 K11_ILEUS 576,635 4,682 571,953 Download
ICD10 K Periodontal disease BBJ+UKB 523 - 527,652 11,300 516,352 Download
ICD10 K Ulcerative colitis BBJ+UKB+FG 555.2 K11_ULCER 596,621 5,685 590,936 Download
ICD10 L Atopic dermatitis BBJ+UKB+FG 939 L12_ATOPIC 649,402 10,520 638,882 Download
ICD10 L Contact dermatitis BBJ+UKB+FG 939 L12_ALLERGICCONTACT 640,790 3,938 636,852 Download
ICD10 L Keloid BBJ+UKB+FG 701.4 L12_HYPERTROPHICSKIN 660,638 1,723 658,915 Download
ICD10 L Metal allergy BBJ+UKB 939 - 515,368 2,687 512,681 Download
ICD10 L Psoriasis vulgaris BBJ+UKB+FG 696.4 L12_PSORIASIS 655,669 5,278 650,391 Download
ICD10 L Type 2 diabetes BBJ+UKB+FG 250.2 E4_DM2 667,504 84,224 583,280 Download
ICD10 L Tatto BBJ+UKB 694.2 - 530,559 1,034 529,525 Download
ICD10 L Urticaria BBJ+UKB+FG 947 L12_URTICA_ALLERG 656,032 10,950 645,082 Download
ICD10 M Back pain BBJ+UKB+FG 760 M13_LOWBACKPAIN 646,995 24,145 622,850 Download
ICD10 M Behcet's disease BBJ+UKB 711.3 - 489,296 105 489,191 Download
ICD10 M Juvenile rheumatoid arthritis BBJ+UKB+FG 714.2 M13_JUVERHEU 582,595 326 582,269 Download
ICD10 M Polymyositis BBJ+UKB 709.4 NA 525,929 102 525,827 Download
ICD10 M Rheumatoid arthritis BBJ+UKB+FG 714.1 M13_RHEUMA 595,872 13,603 582,269 Download
ICD10 M Systemic lupus erythematoss BBJ+UKB+FG 695.42 M13_SLE 659,165 964 658,201 Download
ICD10 M Sjogren's syndrome BBJ+UKB+FG 709.2 M13_SJOGREN 659,915 1,599 658,316 Download
ICD10 M Spinal canal stenosis BBJ+UKB+FG 720 M13_SPINSTENOSIS 633,513 10,321 623,192 Download
ICD10 N Acute glomerulonephritis BBJ+UKB+FG 580.11 N14_ACUTENEPHRITIC 650,317 717 649,600 Download
ICD10 N Acute renal failure BBJ+UKB+FG 585.1 N14_ACUTERENFAIL 657,076 8,160 648,916 Download
ICD10 N Chronic glomerulonephritis BBJ+UKB+FG 580.12 N14_CHRONEPHROPATH 650,376 776 649,600 Download
ICD10 N Chronic renal failure BBJ+UKB+FG 585.3 N14_CHRONKIDNEYDIS 659,320 10,404 648,916 Download
ICD10 N Cystitis BBJ+UKB+FG 592.11 N14_CYSTITIS 632,568 6,586 625,982 Download
ICD10 N Endometriosis BBJ+UKB+FG 615 N14_ENDOMETRIOSIS_NOS 314,532 6,297 308,235 Download
ICD10 N IgA nephritis BBJ+UKB+FG 593 N14_RECURANDPERHEAMATUR 653,143 15,658 637,485 Download
ICD10 N Mastopathy BBJ+UKB+FG 610.1 N14_BENIGNMAMDYSP 342,610 3,116 339,494 Download
ICD10 N Nephrotic syndrome BBJ+UKB+FG 580.2 N14_NEPHROTICSYND 654,756 2,089 652,667 Download
ICD10 N Neuropathic bladder BBJ+UKB+FG 596.5 N14_NEUROMUSCDYSBLADD 645,756 2,545 643,211 Download
ICD10 N Ovarian cyst BBJ+UKB+FG 628 N14_OVARYCYST 301,230 13,743 287,487 Download
ICD10 N Pyelonephritis BBJ+UKB+FG 590 N14_PYELONEPHR 639,586 9,803 629,783 Download
ICD10 N Urolithiasis BBJ+UKB+FG 594.1 N14_CALCUKIDUR 667,072 17,922 649,150 Download
ICD10 N Uterine prolapse BBJ+UKB+FG 618.2 N14_FEMGENPROL 317,583 11,070 306,513 Download
ICD10 O Abortion BBJ+UKB+FG 634 O15_ABORT_SPONTAN 340,322 7,205 333,117 Download
ICD10 O Cesarian section BBJ+UKB+FG 669 O15_DELIV_CAESAR 325,832 5,787 320,045 Download
ICD10 O Ectopic pregnancy BBJ+UKB+FG 634.3 O15_PREG_ECTOP 334,767 2,119 332,648 Download
ICD10 O Pre-eclampsia BBJ+UKB+FG 642 O15_PREECLAMPS 349,327 2,478 346,849 Download
ICD10 Q Polycystic kidney disease BBJ+UKB 751.21 - 534,581 934 533,647 Download
ICD10 R Febrile seizure BBJ+UKB 345.3 - 521,177 2,940 518,237 Download
ICD10 S Achilles tendon rupture BBJ+UKB 1009 - 533,949 8,058 525,891 Download
ICD10 S Compression_ fracture BBJ+UKB 805 - 516,505 4,652 511,853 Download
ICD10 S Head injury BBJ+UKB 1009 - 536,384 10,186 526,198 Download
ICD10 Z Food allergy BBJ+UKB 930 - 520,802 3,959 516,843 Download
ATC A Drugs for peptic ulcer and gastro-esophageal reflux disease BBJ+UKB - - 311,093 106,500 204,593 Download
ATC A Drugs used in diabetes BBJ+UKB - - 484,639 45,787 438,852 Download
ATC B Antithrombotic agents BBJ+UKB - - 332,365 121,873 210,492 Download
ATC C Vasodilators used in cardiac diseases BBJ+UKB - - 421,385 22,596 398,789 Download
ATC C Antihypertensives BBJ+UKB - - 331,106 12,119 318,987 Download
ATC C Diuretics BBJ+UKB - - 407,812 56,809 351,003 Download
ATC C Beta blocking agents BBJ+UKB - - 402,750 52,067 350,683 Download
ATC C Calcium channel blockers BBJ+UKB - - 383,104 81,231 301,873 Download
ATC C Agents acting on the renin-angiotensin system BBJ+UKB - - 416,256 108,572 307,684 Download
ATC C HMG CoA reductase inhibitors BBJ+UKB - - 469,111 106,770 362,341 Download
ATC H Thyroid preparations BBJ+UKB - - 484,308 27,935 456,373 Download
ATC L Immunosuppressants BBJ+UKB - - 451,328 7,437 443,891 Download
ATC M Anti-inflammatory and antirheumatic products, non-steroids BBJ+UKB - - 343,246 103,844 239,402 Download
ATC M Drugs affecting bone structure and mineralization BBJ+UKB - - 394,394 14,013 380,381 Download
ATC N Opioids BBJ+UKB - - 257,534 26,548 230,986 Download
ATC N Salicylic acid and derivatives BBJ+UKB - - 290,736 103,044 187,692 Download
ATC N Anilides BBJ+UKB - - 358,536 87,639 270,897 Download
ATC N Antimigraine preparations BBJ+UKB - - 298,570 5,908 292,662 Download
ATC N Antidepressants BBJ+UKB - - 482,888 37,045 445,843 Download
ATC R Adrenergics, inhalants BBJ+UKB - - 355,171 34,760 320,411 Download
ATC R Glucocorticoids BBJ+UKB - - 384,426 30,454 353,972 Download
ATC R Antihistamines for systemic use BBJ+UKB - - 330,362 24,147 306,215 Download
ATC S Antiglaucoma preparations and miotics BBJ+UKB - - 279,594 11,126 268,468 Download
Anthropometric Body mass index (BMI) BBJ+UKB - - 523,818 - - Download
Anthropometric Body weight (BW) BBJ+UKB - - 525,535 - - Download
Anthropometric Height (Height) BBJ+UKB - - 525,444 - - Download
Blood cell Basophil count (Baso) BBJ+UKB - - 441,764 - - Download
Blood cell Eosinophil count (Eosino) BBJ+UKB - - 442,919 - - Download
Blood cell Hemoglobin (Hb) BBJ+UKB - - 502,921 - - Download
Blood cell Hematocrit (Ht) BBJ+UKB - - 503,490 - - Download
Blood cell Lymphocyte count (Lym) BBJ+UKB - - 445,573 - - Download
Blood cell Mean corpuscular hemoglobin (MCH) BBJ+UKB - - 478,500 - - Download
Blood cell Mean corpuscular hemoglobin concentration (MCHC) BBJ+UKB - - 485,950 - - Download
Blood cell Mean corpuscular volume (MCV) BBJ+UKB - - 480,305 - - Download
Blood cell Monocyte count (Mono) BBJ+UKB - - 444,975 - - Download
Blood cell Neutrophil count (Neutro) BBJ+UKB - - 432,666 - - Download
Blood cell Platelet count (Plt) BBJ+UKB - - 499,097 - - Download
Blood cell Red blood cell count (RBC) BBJ+UKB - - 503,987 - - Download
Blood cell White blood cell count (WBC) BBJ+UKB - - 504,825 - - Download
Blood pressure Diastolic blood pressure (DBP) BBJ+UKB - - 485,677 - - Download
Blood pressure Mean arterial pressure (MAP) BBJ+UKB - - 506,365 - - Download
Blood pressure Pulse pressure (PP) BBJ+UKB - - 506,308 - - Download
Blood pressure Sytolic blood pressure (SBP) BBJ+UKB - - 485,664 - - Download
Electrolytes Calcium (Ca) BBJ+UKB - - 399,133 - - Download
Inflammatory C-reactive protein (CRP) BBJ+UKB - - 436,491 - - Download
Kidney-related Blood urea nitrogen (BUN) BBJ+UKB - - 492,819 - - Download
Kidney-related Uric acids (UA) BBJ+UKB - - 473,241 - - Download
Kidney-related Serum creatinine (sCr) BBJ+UKB - - 494,370 - - Download
Liver-related Alkaline phosphatase (ALP) BBJ+UKB - - 463,178 - - Download
Liver-related Alanine aminotransferase (ALT) BBJ+UKB - - 494,681 - - Download
Liver-related Aspartate transaminase (AST) BBJ+UKB - - 493,058 - - Download
Liver-related G-glutamyl transpeptidase (GGT) BBJ+UKB - - 477,575 - - Download
Liver-related Total Bilirubin (TBil) BBJ+UKB - - 467,170 - - Download
Metabolic Glucose (BS) BBJ+UKB - - 448,252 - - Download
Metabolic HDL-cholesterol (HDL-C) BBJ+UKB - - 390,103 - - Download
Metabolic HbA1c (HbA1c) BBJ+UKB - - 415,403 - - Download
Metabolic LDL-cholesterol (LDL-C) BBJ+UKB - - 416,487 - - Download
Metabolic Total cholesterol (TC) BBJ+UKB - - 480,086 - - Download
Metabolic Triglycerides (TG) BBJ+UKB - - 455,659 - - Download
Protein Albumin (Alb) BBJ+UKB - - 435,807 - - Download
Protein Total protein (TP) BBJ+UKB - - 448,242 - - Download
Citation: Sakaue, S., et al. Genetic determinants of risk in autoimmune pulmonary alveolar proteinosis. Nat. Commun. 12 1032 (2021).
Category Phenotype Cohort No. samples No. cases No. controls Download link
ICD10 J Pulmonary alveolar proteinosis Osaka 593 198 395 Download
Citation: Okada, Y., et al. Genetics of rheumatoid arthritis contributes to biology and drug discovery. Nature. 506 376-381 (2014).
Category Phenotype Cohort No. samples No. cases No. controls Download link
ICD10 M Rheumatoid arthritis (Trans-ethnic meta-analysis; Okada2014) RACI 80,799 19,234 61,565 Download
ICD10 M Rheumatoid arthritis (European meta-analysis; Okada2014) RACI 58,284 14,361 43,923 Download
ICD10 M Rheumatoid arthritis (Asian meta-analysis; Okada2014) RACI 22,515 4,873 17,642 Download