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Variant clusters
Hospitalization Episode Statistics (HES)
Genetic variants: 36,212
Diagnostic terms: × 19,155
Association results: = 693,640,860
Self-Reported Statistics (SRS)
Genetic variants: 28,458
Diagnostic terms: × 474
Association results: = 13,489,092
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Variant cluster associations

Hospitalization Episode Statistics (HES)

Cluster X0266
log Bayes Factor = 95.1792
contains 5 variants:
rs9838604
lBF = 8.448
Chr 3 : 181,346,790
rs12108452
lBF = 9.623
Chr 4 : 95,300,688
rs74342245
lBF = 21.277
Chr11 : 68,938,776
rs67050149
lBF = 6.337
Chr17 : 79,557,043
rs6046144
lBF = 21.590
Chr20 : 19,477,390
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Results table
Term Risk
posterior probability
 No effect
posterior probability
 Protective
posterior probability
  
H25.0 Senile incipient cataract
1.000 0.000 0.000
H25.1 Senile nuclear cataract
1.000 0.000 0.000
H25.8 Other senile cataract
1.000 0.000 0.000
H26.9 Cataract, unspecified
1.000 0.000 0.000
Z96.1 Presence of intraocular lens
1.000 0.000 0.000
H25 Senile cataract
1.000 0.000 0.000
H26 Other cataract
1.000 0.000 0.000
H25-H28 Disorders of lens
1.000 0.000 0.000
Chapter VII Diseases of the eye and adnexa
1.000 0.000 0.000
H26.4 After-cataract
1.000 0.000 0.000
H33 Retinal detachments and breaks
1.000 0.000 0.000
H25.9 Senile cataract, unspecified
1.000 0.000 0.000
H33.2 Serous retinal detachment
1.000 0.000 0.000
H33.0 Retinal detachment with retinal break
0.999 0.001 0.000
H30-H36 Disorders of choroid and retina
0.999 0.001 0.000
H53.0 Amblyopia ex anopsia
0.999 0.001 0.000
H52.1 Myopia
0.998 0.002 0.000
H52 Disorders of refraction and accommodation
0.998 0.002 0.000
H49-H52 Disorders of ocular muscles, binocular movement, accommodation and refraction
0.998 0.002 0.000
H43-H45 Disorders of vitreous body and globe
0.996 0.004 0.000
H43 Disorders of vitreous body
0.985 0.015 0.000
H53-H54 Visual disturbances and blindness
0.984 0.016 0.000
H43.3 Other vitreous opacities
0.980 0.020 0.000
H53 Visual disturbances
0.944 0.056 0.000
H40-H42 Glaucoma
0.940 0.060 0.000
H30 Chorioretinal inflammation
0.936 0.064 0.000
Chapter XVII Congenital malformations, deformations and chromosomal abnormalities
0.923 0.077 0.000
Q38-Q45 Other congenital malformations of the digestive system
0.917 0.083 0.000
Q20-Q28 Congenital malformations of the circulatory system
0.912 0.088 0.000
H44 Disorders of globe
0.912 0.088 0.000
H54 Blindness and low vision
0.903 0.097 0.000
Q39 Congenital malformations of oesophagus
0.902 0.098 0.000
Q25 Congenital malformations of great arteries
0.899 0.101 0.000
H33.5 Other retinal detachments
0.899 0.101 0.000
H40 Glaucoma
0.897 0.103 0.000
H54.4 Blindness, one eye
0.897 0.103 0.000
Q39.4 Oesophageal web
0.892 0.108 0.000
H43.2 Crystalline deposits in vitreous body
0.890 0.110 0.000
H30.9 Chorioretinal inflammation, unspecified
0.890 0.110 0.000
H40.5 Glaucoma secondary to other eye disorders
0.888 0.112 0.000
H52.2 Astigmatism
0.886 0.114 0.000
H26.3 Drug-induced cataract
0.883 0.117 0.000
H52.4 Presbyopia
0.879 0.121 0.000
H43.9 Disorder of vitreous body, unspecified
0.877 0.123 0.000
H40.4 Glaucoma secondary to eye inflammation
0.872 0.128 0.000
Q10-Q18 Congenital malformations of eye, ear, face and neck
0.855 0.145 0.000
H44.1 Other endophthalmitis
0.853 0.147 0.000
Q50-Q56 Congenital malformations of genital organs
0.847 0.153 0.000
H51 Other disorders of binocular movement
0.826 0.174 0.000
Q00-Q07 Congenital malformations of the nervous system
0.825 0.175 0.000
Q25.6 Stenosis of pulmonary artery
0.824 0.176 0.000
H25.2 Senile cataract, morgagnian type
0.824 0.176 0.000
H54.6 Unqualified visual loss, one eye
0.818 0.182 0.000
H26.0 Infantile, juvenile and presenile cataract
0.817 0.183 0.000
H40.0 Glaucoma suspect
0.816 0.184 0.000
Q17 Other congenital malformations of ear
0.810 0.190 0.000
Q25.1 Coarctation of aorta
0.808 0.192 0.000
Q30-Q34 Congenital malformations of the respiratory system
0.808 0.192 0.000
Q22 Congenital malformations of pulmonary and tricuspid valves
0.804 0.196 0.000
Q65-Q79 Congenital malformations and deformations of the musculoskeletal system
0.797 0.203 0.000
Q17.5 Prominent ear
0.778 0.222 0.000
H28 Cataract and other disorders of lens in diseases classified elsewhere
0.776 0.223 0.000
H44.5 Degenerated conditions of globe
0.776 0.224 0.000
Q53 Undescended testicle
0.769 0.231 0.000
Q24 Other congenital malformations of heart
0.769 0.231 0.000
Q27 Other congenital malformations of peripheral vascular system
0.757 0.243 0.000
Q43 Other congenital malformations of intestine
0.752 0.248 0.000
H44.2 Degenerative myopia
0.751 0.249 0.000
Q67 Congenital musculoskeletal deformities of head, face, spine and chest
0.746 0.254 0.000
H44.9 Disorder of globe, unspecified
0.743 0.257 0.000
Q25.7 Other congenital malformations of pulmonary artery
0.739 0.261 0.000
Q52 Other congenital malformations of female genitalia
0.733 0.267 0.000
Q38 Other congenital malformations of tongue, mouth and pharynx
0.730 0.270 0.000
Q54 Hypospadias
0.728 0.272 0.000
Q43.0 Meckel's diverticulum
0.726 0.274 0.000
Q27.8 Other specified congenital malformations of peripheral vascular system
0.719 0.281 0.000
Q04 Other congenital malformations of brain
0.717 0.283 0.000
H32 Chorioretinal disorders in diseases classified elsewhere
0.716 0.283 0.000
H43.0 Vitreous prolapse
0.716 0.284 0.000
H52.5 Disorders of accommodation
0.715 0.284 0.000
H52.6 Other disorders of refraction
0.715 0.284 0.000
H45 Disorders of vitreous body and globe in diseases classified elsewhere
0.714 0.286 0.000
Q25.0 Patent ductus arteriosus
0.713 0.287 0.000
Q60-Q64 Congenital malformations of the urinary system
0.712 0.288 0.000
Q44 Congenital malformations of gallbladder, bile ducts and liver
0.705 0.295 0.000
Q31 Congenital malformations of larynx
0.704 0.295 0.000
H51.2 Internuclear ophthalmoplegia
0.703 0.297 0.000
Q03 Congenital hydrocephalus
0.695 0.305 0.000
H52.7 Disorder of refraction, unspecified
0.695 0.305 0.000
Q45 Other congenital malformations of digestive system
0.693 0.307 0.000
Q24.5 Malformation of coronary vessels
0.690 0.310 0.000
Q62 Congenital obstructive defects of renal pelvis and congenital malformations of ureter
0.690 0.310 0.000
Q40 Other congenital malformations of upper alimentary tract
0.688 0.312 0.000
Q25.4 Other congenital malformations of aorta
0.687 0.313 0.000
Q68 Other congenital musculoskeletal deformities
0.686 0.314 0.000
Q11 Anophthalmos, microphthalmos and macrophthalmos
0.682 0.318 0.000
Q15 Other congenital malformations of eye
0.681 0.319 0.000
H53.5 Colour vision deficiencies
0.677 0.323 0.000
H53.6 Night blindness
0.677 0.323 0.000
Q22.5 Ebstein's anomaly
0.675 0.325 0.000
H42 Glaucoma in diseases classified elsewhere
0.674 0.326 0.000
Q52.5 Fusion of labia
0.672 0.328 0.000
Q54.1 Hypospadias, penile
0.671 0.329 0.000
H30.0 Focal chorioretinal inflammation
0.671 0.329 0.000
H30.1 Disseminated chorioretinal inflammation
0.671 0.329 0.000
H30.2 Posterior cyclitis
0.671 0.329 0.000
H30.8 Other chorioretinal inflammations
0.671 0.329 0.000
H53.3 Other disorders of binocular vision
0.670 0.329 0.000
Q39.9 Congenital malformation of oesophagus, unspecified
0.670 0.330 0.000
Q67.4 Other congenital deformities of skull, face and jaw
0.667 0.333 0.000
H44.8 Other disorders of globe
0.667 0.333 0.000
Q22.1 Congenital pulmonary valve stenosis
0.667 0.333 0.000
Q53.1 Undescended testicle, unilateral
0.664 0.336 0.000
Q53.9 Undescended testicle, unspecified
0.659 0.341 0.000
Q41 Congenital absence, atresia and stenosis of small intestine
0.658 0.342 0.000
Q42 Congenital absence, atresia and stenosis of large intestine
0.658 0.342 0.000
Q20 Congenital malformations of cardiac chambers and connexions
0.654 0.346 0.000
Q26 Congenital malformations of great veins
0.654 0.346 0.000
H44.3 Other degenerative disorders of globe
0.654 0.346 0.000
H44.6 Retained (old) intraocular foreign body, magnetic
0.654 0.346 0.000
H44.7 Retained (old) intraocular foreign body, nonmagnetic
0.654 0.346 0.000
Q25.3 Stenosis of aorta
0.654 0.346 0.000
Q55 Other congenital malformations of male genital organs
0.650 0.350 0.000
H54.2 Low vision, both eyes
0.649 0.351 0.000
H54.3 Unqualified visual loss, both eyes
0.647 0.353 0.000
Q07 Other congenital malformations of nervous system
0.647 0.353 0.000
Q39.0 Atresia of oesophagus without fistula
0.647 0.353 0.000
Q39.1 Atresia of oesophagus with tracheooesophageal fistula
0.647 0.353 0.000
Q39.2 Congenital tracheooesophageal fistula without atresia
0.647 0.353 0.000
Q39.3 Congenital stenosis and stricture of oesophagus
0.647 0.353 0.000
Q39.5 Congenital dilatation of oesophagus
0.647 0.353 0.000
Q39.8 Other congenital malformations of oesophagus
0.647 0.353 0.000
Q43.1 Hirschsprung's disease
0.646 0.354 0.000
Q14 Congenital malformations of posterior segment of eye
0.646 0.354 0.000
Q90-Q99 Chromosomal abnormalities, not elsewhere classified
0.645 0.355 0.000
Q25.2 Atresia of aorta
0.644 0.356 0.000
Q25.5 Atresia of pulmonary artery
0.644 0.356 0.000
Q25.8 Other congenital malformations of great arteries
0.644 0.356 0.000
Q25.9 Congenital malformation of great arteries, unspecified
0.644 0.356 0.000
Q67.6 Pectus excavatum
0.644 0.356 0.000
H40.6 Glaucoma secondary to drugs
0.643 0.357 0.000
H55-H59 Other disorders of eye and adnexa
0.636 0.364 0.000
H54.5 Low vision, one eye
0.635 0.365 0.000
Q04.6 Congenital cerebral cysts
0.633 0.367 0.000
H26.2 Complicated cataract
0.633 0.367 0.000
Q12 Congenital lens malformations
0.632 0.368 0.000
Q31.0 Web of larynx
0.630 0.370 0.000
H40.3 Glaucoma secondary to eye trauma
0.630 0.370 0.000
Q35-Q37 Cleft lip and cleft palate
0.629 0.371 0.000
Q30 Congenital malformations of nose
0.628 0.372 0.000
Q24.6 Congenital heart block
0.622 0.378 0.000
H28.0 Diabetic cataract
0.616 0.384 0.000
Q13 Congenital malformations of anterior segment of eye
0.613 0.387 0.000
Q16 Congenital malformations of ear causing impairment of hearing
0.613 0.387 0.000
Q39.6 Diverticulum of oesophagus
0.612 0.388 0.000
Q21 Congenital malformations of cardiac septa
0.611 0.389 0.000
Q38.8 Other congenital malformations of pharynx
0.611 0.389 0.000
Q56 Indeterminate sex and pseudohermaphroditism
0.607 0.393 0.000
Q68.8 Other specified congenital musculoskeletal deformities
0.606 0.393 0.000
Q03.0 Malformations of aqueduct of Sylvius
0.602 0.398 0.000
H52.0 Hypermetropia
0.602 0.398 0.000
H26.1 Traumatic cataract
0.601 0.399 0.000
Q38.0 Congenital malformations of lips, not elsewhere classified
0.595 0.405 0.000
H51.0 Palsy of conjugate gaze
0.592 0.407 0.000
H51.1 Convergence insufficiency and excess
0.592 0.407 0.000
H51.8 Other specified disorders of binocular movement
0.592 0.407 0.000
H51.9 Disorder of binocular movement, unspecified
0.592 0.407 0.000
Q02 Microcephaly
0.592 0.408 0.000
Q00 Anencephaly and similar malformations
0.592 0.408 0.000
Q01 Encephalocele
0.592 0.408 0.000
Q06 Other congenital malformations of spinal cord
0.592 0.408 0.000
Q62.2 Congenital megaloureter
0.588 0.412 0.000
Q54.0 Hypospadias, balanic
0.582 0.418 0.000
Q38.5 Congenital malformations of palate, not elsewhere classified
0.581 0.419 0.000
Q17.0 Accessory auricle
0.581 0.419 0.000
Q17.1 Macrotia
0.581 0.419 0.000
Q17.2 Microtia
0.581 0.419 0.000
Q17.3 Other misshapen ear
0.581 0.419 0.000
Q17.4 Misplaced ear
0.581 0.419 0.000
Q17.8 Other specified congenital malformations of ear
0.581 0.419 0.000
Q17.9 Congenital malformation of ear, unspecified
0.581 0.419 0.000
Q32 Congenital malformations of trachea and bronchus
0.580 0.420 0.000
Q33 Congenital malformations of lung
0.580 0.420 0.000
Q34 Other congenital malformations of respiratory system
0.580 0.420 0.000
Q10 Congenital malformations of eyelid, lachrymal apparatus and orbit
0.577 0.422 0.000
Q22.0 Pulmonary valve atresia
0.576 0.424 0.000
Q22.2 Congenital pulmonary valve insufficiency
0.576 0.424 0.000
Q22.3 Other congenital malformations of pulmonary valve
0.576 0.424 0.000
Q22.4 Congenital tricuspid stenosis
0.576 0.424 0.000
Q22.6 Hypoplastic right heart syndrome
0.576 0.424 0.000
Q22.8 Other congenital malformations of tricuspid valve
0.576 0.424 0.000
Q22.9 Congenital malformation of tricuspid valve, unspecified
0.576 0.424 0.000
H27 Other disorders of lens
0.575 0.425 0.000
Q62.8 Other congenital malformations of ureter
0.574 0.426 0.000
Q21.0 Ventricular septal defect
0.573 0.427 0.000
Q69 Polydactyly
0.572 0.428 0.000
Q70 Syndactyly
0.572 0.428 0.000
Q71 Reduction defects of upper limb
0.572 0.428 0.000
Q72 Reduction defects of lower limb
0.572 0.428 0.000
Q73 Reduction defects of unspecified limb
0.572 0.428 0.000
Q75 Other congenital malformations of skull and face bones
0.572 0.428 0.000
H31 Other disorders of choroid
0.568 0.432 0.000
Q62.5 Duplication of ureter
0.565 0.435 0.000
Q24.4 Congenital subaortic stenosis
0.564 0.436 0.000
Q77 Osteochondrodysplasia with defects of growth of tubular bones and spine
0.563 0.437 0.000
Q62.1 Atresia and stenosis of ureter
0.563 0.437 0.000
Q62.3 Other obstructive defects of renal pelvis and ureter
0.563 0.437 0.000
Q27.9 Congenital malformation of peripheral vascular system, unspecified
0.558 0.442 0.000
Q11.1 Other anophthalmos
0.557 0.442 0.000
H28.1 Cataract in other endocrine, nutritional and metabolic diseases
0.557 0.443 0.000
H28.2 Cataract in other diseases classified elsewhere
0.557 0.443 0.000
H28.8 Other disorders of lens in diseases classified elsewhere
0.557 0.443 0.000
Q15.0 Congenital glaucoma
0.556 0.444 0.000
H54.9 Unspecified visual impairment (binocular)
0.554 0.446 0.000
H33.4 Traction detachment of retina
0.554 0.446 0.000
Q40.3 Congenital malformation of stomach, unspecified
0.554 0.446 0.000
Q55.6 Other congenital malformations of penis
0.553 0.447 0.000
Q78 Other osteochondrodysplasias
0.553 0.447 0.000
Q53.0 Ectopic testis
0.551 0.449 0.000
Q24.1 Levocardia
0.551 0.449 0.000
Q24.2 Cor triatriatum
0.551 0.449 0.000
Q24.3 Pulmonary infundibular stenosis
0.551 0.449 0.000
Q74 Other congenital malformations of limb(s)
0.551 0.449 0.000
Q24.0 Dextrocardia
0.548 0.452 0.000
Q44.4 Choledochal cyst
0.544 0.456 0.000
Q27.0 Congenital absence and hypoplasia of umbilical artery
0.543 0.457 0.000
Q27.1 Congenital renal artery stenosis
0.543 0.457 0.000
Q27.2 Other congenital malformations of renal artery
0.543 0.457 0.000
Q27.4 Congenital phlebectasia
0.543 0.457 0.000
Q67.5 Congenital deformity of spine
0.542 0.458 0.000
Q53.2 Undescended testicle, bilateral
0.540 0.459 0.000
Q65 Congenital deformities of hip
0.540 0.460 0.000
Q43.2 Other congenital functional disorders of colon
0.539 0.461 0.000
Q43.4 Duplication of intestine
0.539 0.461 0.000
Q43.5 Ectopic anus
0.539 0.461 0.000
Q43.6 Congenital fistula of rectum and anus
0.539 0.461 0.000
Q43.7 Persistent cloaca
0.539 0.461 0.000
H44.4 Hypotony of eye
0.539 0.461 0.000
Q45.8 Other specified congenital malformations of digestive system
0.537 0.463 0.000
Q38.1 Ankyloglossia
0.536 0.464 0.000
Q24.9 Congenital malformation of the heart, unspecified
0.535 0.465 0.000
Q67.0 Facial asymmetry
0.535 0.465 0.000
Q67.1 Compression facies
0.535 0.465 0.000
Q67.2 Dolichocephaly
0.535 0.465 0.000
Q67.3 Plagiocephaly
0.535 0.465 0.000
Q67.7 Pectus carinatum
0.535 0.465 0.000
Q67.8 Other congenital deformities of chest
0.535 0.465 0.000
Q04.8 Other specified congenital malformations of brain
0.528 0.472 0.000
Q52.0 Congenital absence of vagina
0.526 0.474 0.000
Q52.2 Congenital rectovaginal fistula
0.526 0.474 0.000
Q52.3 Imperforate hymen
0.526 0.474 0.000
Q52.4 Other congenital malformations of vagina
0.526 0.474 0.000
Q52.6 Congenital malformation of clitoris
0.526 0.474 0.000
Q52.7 Other congenital malformations of vulva
0.526 0.474 0.000
Q52.8 Other specified congenital malformations of female genitalia
0.526 0.474 0.000
Q52.9 Congenital malformation of female genitalia, unspecified
0.526 0.474 0.000
H59 Postprocedural disorders of eye and adnexa, not elsewhere classified
0.526 0.474 0.000
Q44.7 Other congenital malformations of liver
0.524 0.476 0.000
Q38.2 Macroglossia
0.524 0.476 0.000
Q38.3 Other congenital malformations of tongue
0.524 0.476 0.000
Q38.4 Congenital malformations of salivary glands and ducts
0.524 0.476 0.000
H58 Other disorders of eye and adnexa in diseases classified elsewhere
0.524 0.476 0.000
Q60 Renal agenesis and other reduction defects of kidney
0.522 0.478 0.000
Q54.2 Hypospadias, penoscrotal
0.522 0.478 0.000
Q54.3 Hypospadias, perineal
0.522 0.478 0.000
Q54.4 Congenital chordee
0.522 0.478 0.000
Q54.8 Other hypospadias
0.520 0.480 0.000
Q07.0 Arnold-Chiari syndrome
0.519 0.480 0.000
Q40.1 Congenital hiatus hernia
0.516 0.484 0.000
H31.1 Choroidal degeneration
0.515 0.485 0.000
Q04.0 Congenital malformations of corpus callosum
0.514 0.486 0.000
Q04.1 Arhinencephaly
0.514 0.486 0.000
Q04.2 Holoprosencephaly
0.514 0.486 0.000
Q04.3 Other reduction deformities of brain
0.514 0.486 0.000
Q04.4 Septo-optic dysplasia
0.514 0.486 0.000
Q04.5 Megalencephaly
0.514 0.486 0.000
Q04.9 Congenital malformation of brain, unspecified
0.514 0.486 0.000
H32.0 Chorioretinal inflammation in infectious and parasitic diseases classified elsewhere
0.514 0.486 0.000
H32.8 Other chorioretinal disorders in diseases classified elsewhere
0.514 0.486 0.000
H45.0 Vitreous haemorrhage in diseases classified elsewhere
0.512 0.488 0.000
H45.1 Endophthalmitis in diseases classified elsewhere
0.512 0.488 0.000
H45.8 Other disorders of vitreous body and globe in diseases classified elsewhere
0.512 0.488 0.000
Q79 Congenital malformations of musculoskeletal system, not elsewhere classified
0.509 0.491 0.000
Q44.0 Agenesis, aplasia and hypoplasia of gallbladder
0.506 0.494 0.000
Q44.1 Other congenital malformations of gallbladder
0.506 0.494 0.000
Q44.2 Atresia of bile ducts
0.506 0.494 0.000
Q44.3 Congenital stenosis and stricture of bile ducts
0.506 0.494 0.000
Q31.1 Congenital subglottic stenosis
0.505 0.495 0.000
Q31.2 Laryngeal hypoplasia
0.505 0.495 0.000
Q31.3 Laryngocele
0.505 0.495 0.000
Q31.4 Congenital laryngeal stridor
0.505 0.495 0.000
Q31.5 Congenital laryngomalacia
0.505 0.495 0.000
Q31.8 Other congenital malformations of larynx
0.505 0.495 0.000
Q31.9 Congenital malformation of larynx, unspecified
0.505 0.495 0.000
Q44.5 Other congenital malformations of bile ducts
0.505 0.495 0.000
Q44.6 Cystic disease of liver
0.500 0.500 0.000
Q03.1 Atresia of foramina of Magendie and Luschka
0.498 0.501 0.000
Q03.8 Other congenital hydrocephalus
0.498 0.501 0.000
Q03.9 Congenital hydrocephalus, unspecified
0.498 0.501 0.000
Q30.3 Congenital perforated nasal septum
0.498 0.502 0.000
Q45.0 Agenesis, aplasia and hypoplasia of pancreas
0.497 0.503 0.000
Q45.1 Annular pancreas
0.497 0.503 0.000
Q45.2 Congenital pancreatic cyst
0.497 0.503 0.000
Q45.9 Congenital malformation of digestive system, unspecified
0.497 0.503 0.000
Q14.1 Congenital malformation of retina
0.496 0.504 0.000
Q38.6 Other congenital malformations of mouth
0.495 0.505 0.000
Q62.0 Congenital hydronephrosis
0.494 0.505 0.000
Q62.4 Agenesis of ureter
0.494 0.505 0.000
Q62.6 Malposition of ureter
0.494 0.505 0.000
Q62.7 Congenital vesico-uretero-renal reflux
0.494 0.505 0.000
Q40.0 Congenital hypertrophic pyloric stenosis
0.493 0.507 0.000
Q40.8 Other specified congenital malformations of upper alimentary tract
0.493 0.507 0.000
Q40.9 Congenital malformation of upper alimentary tract, unspecified
0.493 0.507 0.000
Q68.0 Congenital deformity of sternocleidomastoid muscle
0.492 0.508 0.000
Q68.1 Congenital deformity of hand
0.492 0.508 0.000
Q68.2 Congenital deformity of knee
0.492 0.508 0.000
Q68.3 Congenital bowing of femur
0.492 0.508 0.000
Q68.4 Congenital bowing of tibia and fibula
0.492 0.508 0.000
Q68.5 Congenital bowing of long bones of leg, unspecified
0.492 0.508 0.000
Q45.3 Other congenital malformations of pancreas and pancreatic duct
0.490 0.510 0.000
Q11.0 Cystic eyeball
0.489 0.511 0.000
Q11.2 Microphthalmos
0.489 0.511 0.000
Q11.3 Macrophthalmos
0.489 0.511 0.000
Q90 Down's syndrome
0.488 0.511 0.000
Q15.8 Other specified congenital malformations of eye
0.488 0.512 0.000
Q15.9 Congenital malformation of eye, unspecified
0.488 0.512 0.000
Q43.3 Congenital malformations of intestinal fixation
0.486 0.514 0.000
H42.0 Glaucoma in endocrine, nutritional and metabolic diseases
0.483 0.517 0.000
H42.8 Glaucoma in other diseases classified elsewhere
0.483 0.517 0.000
Q76 Congenital malformations of spine and bony thorax
0.482 0.517 0.000
Q55.4 Other congenital malformations of vas deferens, epididymis, seminal vesicles and prostate
0.479 0.521 0.000
Q66 Congenital deformities of feet
0.475 0.525 0.000
Q99 Other chromosome abnormalities, not elsewhere classified
0.473 0.527 0.000
Q41.0 Congenital absence, atresia and stenosis of duodenum
0.472 0.528 0.000
Q41.1 Congenital absence, atresia and stenosis of jejunum
0.472 0.528 0.000
Q41.2 Congenital absence, atresia and stenosis of ileum
0.472 0.528 0.000
Q41.8 Congenital absence, atresia and stenosis of other specified parts of small intestine
0.472 0.528 0.000
Q41.9 Congenital absence, atresia and stenosis of small intestine, part unspecified
0.472 0.528 0.000
Q42.0 Congenital absence, atresia and stenosis of rectum with fistula
0.472 0.528 0.000
Q42.1 Congenital absence, atresia and stenosis of rectum without fistula
0.472 0.528 0.000
Q42.2 Congenital absence, atresia and stenosis of anus with fistula
0.472 0.528 0.000
Q42.3 Congenital absence, atresia and stenosis of anus without fistula
0.472 0.528 0.000
Q42.8 Congenital absence, atresia and stenosis of other parts of large intestine
0.472 0.528 0.000
Q42.9 Congenital absence, atresia and stenosis of large intestine, part unspecified
0.472 0.528 0.000
Q12.0 Congenital cataract
0.472 0.528 0.000
Q05 Spina bifida
0.470 0.530 0.000
Q20.0 Common arterial trunk
0.469 0.531 0.000
Q20.1 Double outlet right ventricle
0.469 0.531 0.000
Q20.2 Double outlet left ventricle
0.469 0.531 0.000
Q20.3 Discordant ventriculoarterial connexion
0.469 0.531 0.000
Q20.4 Double inlet ventricle
0.469 0.531 0.000
Q20.5 Discordant atrioventricular connexion
0.469 0.531 0.000
Q20.6 Isomerism of atrial appendages
0.469 0.531 0.000
Q20.8 Other congenital malformations of cardiac chambers and connexions
0.469 0.531 0.000
Q20.9 Congenital malformation of cardiac chambers and connexions, unspecified
0.469 0.531 0.000
Q26.0 Congenital stenosis of vena cava
0.469 0.531 0.000
Q26.1 Persistent left superior vena cava
0.469 0.531 0.000
Q26.2 Total anomalous pulmonary venous connexion
0.469 0.531 0.000
Q26.3 Partial anomalous pulmonary venous connexion
0.469 0.531 0.000
Q26.4 Anomalous pulmonary venous connexion, unspecified
0.469 0.531 0.000
Q26.5 Anomalous portal venous connexion
0.469 0.531 0.000
Q26.6 Portal vein-hepatic artery fistula
0.469 0.531 0.000
Q26.8 Other congenital malformations of great veins
0.469 0.531 0.000
Q26.9 Congenital malformation of great vein, unspecified
0.469 0.531 0.000
Q55.0 Absence and aplasia of testis
0.466 0.534 0.000
Q55.1 Hypoplasia of testis and scrotum
0.466 0.534 0.000
Q55.3 Atresia of vas deferens
0.466 0.534 0.000
Q55.5 Congenital absence and aplasia of penis
0.466 0.534 0.000
Q55.8 Other specified congenital malformations of male genital organs
0.466 0.534 0.000
Q55.9 Congenital malformation of male genital organ, unspecified
0.466 0.534 0.000
Q07.8 Other specified congenital malformations of nervous system
0.464 0.536 0.000
Q07.9 Congenital malformation of nervous system, unspecified
0.464 0.536 0.000
Q14.0 Congenital malformation of vitreous humour
0.463 0.537 0.000
Q14.2 Congenital malformation of optic disk
0.463 0.537 0.000
Q14.3 Congenital malformation of choroid
0.463 0.537 0.000
Q14.8 Other congenital malformations of posterior segment of eye
0.463 0.537 0.000
Q14.9 Congenital malformation of posterior segment of eye, unspecified
0.463 0.537 0.000
Q91 Edwards' syndrome and Patau's syndrome
0.462 0.538 0.000
Q92 Other trisomies and partial trisomies of the autosomes, not elsewhere classified
0.462 0.538 0.000
Q93 Monosomies and deletions from the autosomes, not elsewhere classified
0.462 0.538 0.000
Q95 Balanced rearrangements and structural markers, not elsewhere classified
0.462 0.538 0.000
Q97 Other sex chromosome abnormalities, female phenotype, not elsewhere classified
0.462 0.538 0.000
H31.9 Disorder of choroid, unspecified
0.461 0.539 0.000
Q74.2 Other congenital malformations of lower limb(s), including pelvic girdle
0.460 0.539 0.000
Q37 Cleft palate with cleft lip
0.460 0.540 0.000
Q52.1 Doubling of vagina
0.458 0.542 0.000
Q96 Turner's syndrome
0.457 0.543 0.000
H59.9 Postprocedural disorder of eye and adnexa, unspecified
0.456 0.544 0.000
Q12.1 Congenital displaced lens
0.453 0.547 0.000
Q12.2 Coloboma of lens
0.453 0.547 0.000
Q12.3 Congenital aphakia
0.453 0.547 0.000
Q12.4 Spherophakia
0.453 0.547 0.000
Q12.8 Other congenital lens malformations
0.453 0.547 0.000
Q12.9 Congenital lens malformation, unspecified
0.453 0.547 0.000
Q36 Cleft lip
0.451 0.549 0.000
Q30.0 Choanal atresia
0.450 0.550 0.000
Q30.1 Agenesis and underdevelopment of nose
0.450 0.550 0.000
Q30.2 Fissured, notched and cleft nose
0.450 0.550 0.000
Q30.8 Other congenital malformations of nose
0.450 0.550 0.000
Q30.9 Congenital malformation of nose, unspecified
0.450 0.550 0.000
H58.8 Visual disturbances in diseases classified elsewhere
0.443 0.557 0.000
Q21.3 Tetralogy of Fallot
0.440 0.560 0.000
Q13.0 Coloboma of iris
0.440 0.560 0.000
Q13.1 Absence of iris
0.440 0.560 0.000
Q13.2 Other congenital malformations of iris
0.440 0.560 0.000
Q13.3 Congenital corneal opacity
0.440 0.560 0.000
Q13.4 Other congenital corneal malformations
0.440 0.560 0.000
Q13.5 Blue sclera
0.440 0.560 0.000
Q13.8 Other congenital malformations of anterior segment of eye
0.440 0.560 0.000
Q13.9 Congenital malformation of anterior segment of eye, unspecified
0.440 0.560 0.000
Q16.0 Congenital absence of (ear) auricle
0.440 0.560 0.000
Q16.1 Congenital absence, atresia and stricture of auditory canal (external)
0.440 0.560 0.000
Q16.2 Absence of eustachian tube
0.440 0.560 0.000
Q16.3 Congenital malformation of ear ossicles
0.440 0.560 0.000
Q16.4 Other congenital malformations of middle ear
0.440 0.560 0.000
Q16.5 Congenital malformation of inner ear
0.440 0.560 0.000
Q16.9 Congenital malformation of ear causing impairment of hearing, unspecified
0.440 0.560 0.000
Q21.2 Atrioventricular septal defect
0.438 0.562 0.000
Q21.4 Aortopulmonary septal defect
0.438 0.562 0.000
Q21.8 Other congenital malformations of cardiac septa
0.438 0.562 0.000
Q60.2 Renal agenesis, unspecified
0.437 0.563 0.000
H36 Retinal disorders in diseases classified elsewhere
0.436 0.564 0.000
Q56.0 Hermaphroditism, not elsewhere classified
0.435 0.564 0.000
Q56.1 Male pseudohermaphroditism, not elsewhere classified
0.435 0.564 0.000
Q56.2 Female pseudohermaphroditism, not elsewhere classified
0.435 0.564 0.000
Q56.3 Pseudohermaphroditism, unspecified
0.435 0.564 0.000
Q56.4 Indeterminate sex, unspecified
0.435 0.564 0.000
H54.1 Blindness, one eye, low vision, other eye
0.433 0.567 0.000
Q74.1 Congenital malformation of knee
0.432 0.568 0.000
H55 Nystagmus and other irregular eye movements
0.432 0.568 0.000
H27.0 Aphakia
0.432 0.568 0.000
Q28 Other congenital malformations of circulatory system
0.430 0.570 0.000
Q00.0 Anencephaly
0.424 0.576 0.000
Q00.1 Craniorachischisis
0.424 0.576 0.000
Q00.2 Iniencephaly
0.424 0.576 0.000
Q01.0 Frontal encephalocele
0.424 0.576 0.000
Q01.1 Nasofrontal encephalocele
0.424 0.576 0.000
Q01.2 Occipital encephalocele
0.424 0.576 0.000
Q01.8 Encephalocele of other sites
0.424 0.576 0.000
Q01.9 Encephalocele, unspecified
0.424 0.576 0.000
Q06.0 Amyelia
0.424 0.576 0.000
Q06.1 Hypoplasia and dysplasia of spinal cord
0.424 0.576 0.000
Q06.2 Diastematomyelia
0.424 0.576 0.000
Q06.3 Other congenital cauda equina malformations
0.424 0.576 0.000
Q06.4 Hydromyelia
0.424 0.576 0.000
Q06.8 Other specified congenital malformations of spinal cord
0.424 0.576 0.000
Q06.9 Congenital malformation of spinal cord, unspecified
0.424 0.576 0.000
Q65.1 Congenital dislocation of hip, bilateral
0.424 0.576 0.000
Q23 Congenital malformations of aortic and mitral valves
0.422 0.578 0.000
Q65.0 Congenital dislocation of hip, unilateral
0.421 0.579 0.000
Q79.8 Other congenital malformations of musculoskeletal system
0.420 0.580 0.000
Q51 Congenital malformations of uterus and cervix
0.418 0.582 0.000
Q40.2 Other specified congenital malformations of stomach
0.417 0.583 0.000
Q32.0 Congenital tracheomalacia
0.416 0.584 0.000
Q32.1 Other congenital malformations of trachea
0.416 0.584 0.000
Q32.2 Congenital bronchomalacia
0.416 0.584 0.000
Q32.3 Congenital stenosis of bronchus
0.416 0.584 0.000
Q32.4 Other congenital malformations of bronchus
0.416 0.584 0.000
Q33.0 Congenital cystic lung
0.416 0.584 0.000
Q33.1 Accessory lobe of lung
0.416 0.584 0.000
Q33.2 Sequestration of lung
0.416 0.584 0.000
Q33.3 Agenesis of lung
0.416 0.584 0.000
Q33.4 Congenital bronchiectasis
0.416 0.584 0.000
Q33.5 Ectopic tissue in lung
0.416 0.584 0.000
Q33.6 Hypoplasia and dysplasia of lung
0.416 0.584 0.000
Q33.8 Other congenital malformations of lung
0.416 0.584 0.000
Q33.9 Congenital malformation of lung, unspecified
0.416 0.584 0.000
Q34.0 Anomaly of pleura
0.416 0.584 0.000
Q34.1 Congenital cyst of mediastinum
0.416 0.584 0.000
Q34.8 Other specified congenital malformations of respiratory system
0.416 0.584 0.000
Q34.9 Congenital malformation of respiratory system, unspecified
0.416 0.584 0.000
Q10.1 Congenital ectropion
0.414 0.586 0.000
Q10.2 Congenital entropion
0.414 0.586 0.000
Q10.3 Other congenital malformations of eyelid
0.414 0.586 0.000
Q10.4 Absence and agenesis of lachrymal apparatus
0.414 0.586 0.000
Q10.5 Congenital stenosis and stricture of lachrymal duct
0.414 0.586 0.000
Q10.6 Other congenital malformations of lachrymal apparatus
0.414 0.586 0.000
Q10.7 Congenital malformation of orbit
0.414 0.586 0.000
H27.9 Disorder of lens, unspecified
0.412 0.588 0.000
Q69.0 Accessory finger(s)
0.410 0.590 0.000
Q69.1 Accessory thumb(s)
0.410 0.590 0.000
Q69.2 Accessory toe(s)
0.410 0.590 0.000
Q69.9 Polydactyly, unspecified
0.410 0.590 0.000
Q70.0 Fused fingers
0.410 0.590 0.000
Q70.1 Webbed fingers
0.410 0.590 0.000
Q70.2 Fused toes
0.410 0.590 0.000
Q70.3 Webbed toes
0.410 0.590 0.000
Q70.4 Polysyndactyly
0.410 0.590 0.000
Q70.9 Syndactyly, unspecified
0.410 0.590 0.000
Q71.0 Congenital complete absence of upper limb(s)
0.410 0.590 0.000
Q71.1 Congenital absence of upper arm and forearm with hand present
0.410 0.590 0.000
Q71.2 Congenital absence of both forearm and hand
0.410 0.590 0.000
Q71.3 Congenital absence of hand and finger(s)
0.410 0.590 0.000
Q71.4 Longitudinal reduction defect of radius
0.410 0.590 0.000
Q71.5 Longitudinal reduction defect of ulna
0.410 0.590 0.000
Q71.6 Lobster-claw hand
0.410 0.590 0.000
Q71.8 Other reduction defects of upper limb(s)
0.410 0.590 0.000
Q71.9 Reduction defect of upper limb, unspecified
0.410 0.590 0.000
Q72.0 Congenital complete absence of lower limb(s)
0.410 0.590 0.000
Q72.1 Congenital absence of thigh and lower leg with foot present
0.410 0.590 0.000

This table lists the top 500 terms ordered by p(effect).

The full results table can be downloaded from this page.

 

The TreeWAS Database is the result of research conducted at the Oxford Big Data Institute at the University of Oxford.

This research has been conducted using the UK Biobank Resource (application number 10625). This work uses data provided by patients and collected by the NHS as part of their care and support.

This research has been conducted with the support of the Wellcome Trust (100956/Z/13/Z and 090532/Z/09/Z and 100308/Z/12/Z), the Danish National Research Foundation, Takeda, the Medical Research Council (MC_UU_12010/3), the Oak Foundation (OCAY-15-520), the National Institute for Health Research (NIHR) Oxford Biomedical Research Centre (BRC), the Wellcome Trust/Royal Society (204290/Z/16/Z) and the Li Ka Shing Foundation.

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