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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 X0206
log Bayes Factor = 56.4479
contains 3 variants:
rs10199082
lBF = 24.974
Chr 2 : 56,040,099
rs3757584
lBF = 10.059
Chr 7 : 73,440,695
rs17111
lBF = 9.129
Chr16 : 84,857,244
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Results table
Term Risk
posterior probability
 No effect
posterior probability
 Protective
posterior probability
  
K40.9 Unilateral or unspecified inguinal hernia, without obstruction or gangrene
1.000 0.000 0.000
K44.9 Diaphragmatic hernia without obstruction or gangrene
1.000 0.000 0.000
K57.3 Diverticular disease of large intestine without perforation or abscess
1.000 0.000 0.000
K57.9 Diverticular disease of intestine, part unspecified, without perforation or abscess
1.000 0.000 0.000
K40 Inguinal hernia
1.000 0.000 0.000
K40-K46 Hernia
1.000 0.000 0.000
K44 Diaphragmatic hernia
1.000 0.000 0.000
K57 Diverticular disease of intestine
1.000 0.000 0.000
K41 Femoral hernia
1.000 0.000 0.000
K40.2 Bilateral inguinal hernia, without obstruction or gangrene
0.998 0.002 0.000
K41.9 Unilateral or unspecified femoral hernia, without obstruction or gangrene
0.998 0.002 0.000
N81 Female genital prolapse
0.985 0.015 0.000
N81.6 Rectocele
0.984 0.016 0.000
N81.5 Vaginal enterocele
0.976 0.024 0.000
N81.9 Female genital prolapse, unspecified
0.963 0.037 0.000
N81.3 Complete uterovaginal prolapse
0.945 0.055 0.000
K41.3 Unilateral or unspecified femoral hernia, with obstruction, without gangrene
0.939 0.061 0.000
K43 Ventral hernia
0.927 0.073 0.000
K42 Umbilical hernia
0.922 0.078 0.000
K42.9 Umbilical hernia without obstruction or gangrene
0.893 0.107 0.000
K57.2 Diverticular disease of large intestine with perforation and abscess
0.887 0.113 0.000
K40.3 Unilateral or unspecified inguinal hernia, with obstruction, without gangrene
0.880 0.120 0.000
N81.4 Uterovaginal prolapse, unspecified
0.879 0.121 0.000
K43.9 Ventral hernia without obstruction or gangrene
0.844 0.156 0.000
K41.4 Unilateral or unspecified femoral hernia, with gangrene
0.832 0.168 0.000
K57.5 Diverticular disease of both small and large intestine without perforation or abscess
0.815 0.185 0.000
N81.2 Incomplete uterovaginal prolapse
0.804 0.196 0.000
N81.1 Cystocele
0.788 0.212 0.000
K40.4 Unilateral or unspecified inguinal hernia, with gangrene
0.771 0.228 0.000
K57.0 Diverticular disease of small intestine with perforation and abscess
0.755 0.245 0.000
H65-H75 Diseases of middle ear and mastoid
0.755 0.245 0.000
K41.2 Bilateral femoral hernia, without obstruction or gangrene
0.751 0.249 0.000
H71 Cholesteatoma of middle ear
0.751 0.249 0.000
H72 Perforation of tympanic membrane
0.747 0.253 0.000
K44.0 Diaphragmatic hernia with obstruction, without gangrene
0.744 0.256 0.000
K43.0 Ventral hernia with obstruction, without gangrene
0.743 0.257 0.000
H74 Other disorders of middle ear and mastoid
0.739 0.261 0.000
K40.1 Bilateral inguinal hernia, with gangrene
0.717 0.283 0.000
K41.0 Bilateral femoral hernia, with obstruction, without gangrene
0.717 0.283 0.000
K41.1 Bilateral femoral hernia, with gangrene
0.717 0.283 0.000
K42.1 Umbilical hernia with gangrene
0.713 0.286 0.000
K57.4 Diverticular disease of both small and large intestine with perforation and abscess
0.708 0.291 0.000
H72.0 Central perforation of tympanic membrane
0.698 0.302 0.000
K43.1 Ventral hernia with gangrene
0.694 0.306 0.000
H72.8 Other perforations of tympanic membrane
0.673 0.327 0.000
H74.3 Other acquired abnormalities of ear ossicles
0.668 0.332 0.000
K43.2 Incisional hernia without obstruction or gangrene
0.665 0.335 0.000
K43.3 Parastomal hernia with obstruction, without gangrene
0.665 0.335 0.000
K43.4 Parastomal hernia with gangrene
0.665 0.335 0.000
K43.5 Parastomal hernia without obstruction or gangrene
0.665 0.335 0.000
K43.6 Other and unspecified ventral hernia with obstruction, without gangrene
0.665 0.335 0.000
K43.7 Other and unspecified ventral hernia with gangrene
0.665 0.335 0.000
H74.4 Polyp of middle ear
0.644 0.356 0.000
H72.9 Perforation of tympanic membrane, unspecified
0.640 0.360 0.000
H74.2 Discontinuity and dislocation of ear ossicles
0.621 0.379 0.000
K40.0 Bilateral inguinal hernia, with obstruction, without gangrene
0.611 0.388 0.000
H74.1 Adhesive middle ear disease
0.609 0.390 0.000
H66 Suppurative and unspecified otitis media
0.608 0.392 0.000
K57.8 Diverticular disease of intestine, part unspecified, with perforation and abscess
0.608 0.392 0.000
H72.1 Attic perforation of tympanic membrane
0.599 0.401 0.000
H68 Eustachian salpingitis and obstruction
0.597 0.403 0.000
Q38-Q45 Other congenital malformations of the digestive system
0.591 0.409 0.000
Q43 Other congenital malformations of intestine
0.588 0.412 0.000
Chapter XVII Congenital malformations, deformations and chromosomal abnormalities
0.582 0.418 0.000
H73 Other disorders of tympanic membrane
0.581 0.419 0.000
Q38 Other congenital malformations of tongue, mouth and pharynx
0.575 0.425 0.000
Q80-Q89 Other congenital malformations
0.573 0.427 0.000
K45 Other abdominal hernia
0.572 0.428 0.000
Q89.2 Congenital malformations of other endocrine glands
0.571 0.429 0.000
Q89 Other congenital malformations, not elsewhere classified
0.570 0.430 0.000
Q38.7 Pharyngeal pouch
0.558 0.442 0.000
Q43.8 Other specified congenital malformations of intestine
0.558 0.442 0.000
H66.3 Other chronic suppurative otitis media
0.553 0.447 0.000
Q20-Q28 Congenital malformations of the circulatory system
0.545 0.455 0.000
K46 Unspecified abdominal hernia
0.544 0.456 0.000
H67 Otitis media in diseases classified elsewhere
0.541 0.459 0.000
H75 Other disorders of middle ear and mastoid in diseases classified elsewhere
0.541 0.459 0.000
K44.1 Diaphragmatic hernia with gangrene
0.540 0.460 0.000
Q43.0 Meckel's diverticulum
0.540 0.460 0.000
H74.0 Tympanosclerosis
0.533 0.467 0.000
H66.1 Chronic tubotympanic suppurative otitis media
0.532 0.468 0.000
H72.2 Other marginal perforations of tympanic membrane
0.530 0.470 0.000
H74.8 Other specified disorders of middle ear and mastoid
0.530 0.470 0.000
Q50-Q56 Congenital malformations of genital organs
0.525 0.475 0.000
H74.9 Disorder of middle ear and mastoid, unspecified
0.521 0.479 0.000
H73.9 Disorder of tympanic membrane, unspecified
0.513 0.487 0.000
H69 Other disorders of Eustachian tube
0.511 0.489 0.000
Q21 Congenital malformations of cardiac septa
0.504 0.496 0.000
Q87 Other specified congenital malformation syndromes affecting multiple systems
0.501 0.499 0.000
Q43.9 Congenital malformation of intestine, unspecified
0.501 0.499 0.000
H70 Mastoiditis and related conditions
0.500 0.500 0.000
N81.0 Female urethrocele
0.490 0.510 0.000
H68.1 Obstruction of Eustachian tube
0.485 0.515 0.000
Q90-Q99 Chromosomal abnormalities, not elsewhere classified
0.476 0.524 0.000
Q87.4 Marfan's syndrome
0.468 0.531 0.000
Q51 Congenital malformations of uterus and cervix
0.467 0.533 0.000
Q65-Q79 Congenital malformations and deformations of the musculoskeletal system
0.463 0.537 0.000
Q23 Congenital malformations of aortic and mitral valves
0.463 0.537 0.000
Q55 Other congenital malformations of male genital organs
0.450 0.550 0.000
Q40 Other congenital malformations of upper alimentary tract
0.449 0.551 0.000
Q38.8 Other congenital malformations of pharynx
0.446 0.554 0.000
Q54 Hypospadias
0.446 0.554 0.000
H69.8 Other specified disorders of Eustachian tube
0.445 0.555 0.000
Q21.0 Ventricular septal defect
0.443 0.557 0.000
H66.2 Chronic atticoantral suppurative otitis media
0.443 0.557 0.000
Q38.6 Other congenital malformations of mouth
0.437 0.563 0.000
Q43.1 Hirschsprung's disease
0.434 0.566 0.000
Q24 Other congenital malformations of heart
0.433 0.567 0.000
Q43.3 Congenital malformations of intestinal fixation
0.431 0.569 0.000
Q39 Congenital malformations of oesophagus
0.430 0.570 0.000
H68.0 Eustachian salpingitis
0.428 0.571 0.000
Q51.3 Bicornate uterus
0.428 0.572 0.000
Q28 Other congenital malformations of circulatory system
0.427 0.573 0.000
Chapter VIII Diseases of the ear and mastoid process
0.424 0.576 0.000
Q41 Congenital absence, atresia and stenosis of small intestine
0.424 0.576 0.000
Q42 Congenital absence, atresia and stenosis of large intestine
0.424 0.576 0.000
Q43.2 Other congenital functional disorders of colon
0.422 0.578 0.000
Q43.4 Duplication of intestine
0.422 0.578 0.000
Q43.5 Ectopic anus
0.422 0.578 0.000
Q43.6 Congenital fistula of rectum and anus
0.422 0.578 0.000
Q43.7 Persistent cloaca
0.422 0.578 0.000
H66.4 Suppurative otitis media, unspecified
0.419 0.581 0.000
H73.0 Acute myringitis
0.416 0.583 0.000
Q38.0 Congenital malformations of lips, not elsewhere classified
0.412 0.587 0.000
Q38.1 Ankyloglossia
0.412 0.587 0.000
Q38.2 Macroglossia
0.412 0.587 0.000
Q38.3 Other congenital malformations of tongue
0.412 0.587 0.000
Q38.4 Congenital malformations of salivary glands and ducts
0.412 0.587 0.000
Q38.5 Congenital malformations of palate, not elsewhere classified
0.412 0.587 0.000
Q30-Q34 Congenital malformations of the respiratory system
0.412 0.588 0.000
Q21.3 Tetralogy of Fallot
0.411 0.589 0.000
Q80 Congenital ichthyosis
0.411 0.589 0.000
Q81 Epidermolysis bullosa
0.411 0.589 0.000
Q84 Other congenital malformations of integument
0.411 0.589 0.000
Q86 Congenital malformation syndromes due to known exogenous causes, not elsewhere classified
0.411 0.589 0.000
K45.1 Other specified abdominal hernia with gangrene
0.410 0.589 0.000
H66.0 Acute suppurative otitis media
0.410 0.590 0.000
K46.0 Unspecified abdominal hernia with obstruction, without gangrene
0.410 0.590 0.000
Q89.0 Congenital malformations of spleen
0.409 0.591 0.000
Q89.1 Congenital malformations of adrenal gland
0.409 0.591 0.000
Q89.4 Conjoined twins
0.409 0.591 0.000
Q89.7 Multiple congenital malformations, not elsewhere classified
0.409 0.591 0.000
Q89.8 Other specified congenital malformations
0.409 0.591 0.000
Q89.9 Congenital malformation, unspecified
0.409 0.591 0.000
H90-H95 Other disorders of ear
0.409 0.591 0.000
Q83 Congenital malformations of breast
0.408 0.592 0.000
Q23.1 Congenital insufficiency of aortic valve
0.408 0.592 0.000
Q21.9 Congenital malformation of cardiac septum, unspecified
0.404 0.595 0.000
Q45 Other congenital malformations of digestive system
0.399 0.600 0.000
N81.8 Other female genital prolapse
0.397 0.603 0.000
Q89.3 Situs inversus
0.396 0.604 0.000
H73.1 Chronic myringitis
0.392 0.607 0.000
Q51.8 Other congenital malformations of uterus and cervix
0.393 0.607 0.000
Q65 Congenital deformities of hip
0.393 0.607 0.000
Q20 Congenital malformations of cardiac chambers and connexions
0.391 0.609 0.000
Q26 Congenital malformations of great veins
0.391 0.609 0.000
K46.1 Unspecified abdominal hernia with gangrene
0.390 0.610 0.000
Q35-Q37 Cleft lip and cleft palate
0.390 0.610 0.000
H70.8 Other mastoiditis and related conditions
0.388 0.612 0.000
H67.0 Otitis media in bacterial diseases classified elsewhere
0.388 0.612 0.000
H67.1 Otitis media in viral diseases classified elsewhere
0.388 0.612 0.000
H67.8 Otitis media in other diseases classified elsewhere
0.388 0.612 0.000
H75.0 Mastoiditis in infectious and parasitic diseases classified elsewhere
0.388 0.612 0.000
H75.8 Other specified disorders of middle ear and mastoid in diseases classified elsewhere
0.388 0.612 0.000
H90 Conductive and sensorineural hearing loss
0.388 0.612 0.000
Q67 Congenital musculoskeletal deformities of head, face, spine and chest
0.387 0.613 0.000
Q54.1 Hypospadias, penile
0.385 0.615 0.000
H90.1 Conductive hearing loss, unilateral with unrestricted hearing on the contralateral side
0.380 0.620 0.000
H70.1 Chronic mastoiditis
0.379 0.620 0.000
K57.1 Diverticular disease of small intestine without perforation or abscess
0.379 0.621 0.000
Q55.2 Other congenital malformations of testis and scrotum
0.378 0.622 0.000
K45.0 Other specified abdominal hernia with obstruction, without gangrene
0.378 0.622 0.000
Q54.8 Other hypospadias
0.378 0.622 0.000
Q98 Other sex chromosome abnormalities, male phenotype, not elsewhere classified
0.377 0.623 0.000
Q22 Congenital malformations of pulmonary and tricuspid valves
0.376 0.623 0.000
Q56 Indeterminate sex and pseudohermaphroditism
0.376 0.624 0.000
Q24.5 Malformation of coronary vessels
0.376 0.624 0.000
H95 Postprocedural disorders of ear and mastoid process, not elsewhere classified
0.370 0.630 0.000
H69.0 Patulous Eustachian tube
0.367 0.633 0.000
Q24.0 Dextrocardia
0.365 0.635 0.000
Q96 Turner's syndrome
0.365 0.635 0.000
Q21.2 Atrioventricular septal defect
0.361 0.638 0.000
Q21.4 Aortopulmonary septal defect
0.361 0.638 0.000
Q21.8 Other congenital malformations of cardiac septa
0.361 0.638 0.000
Q87.1 Congenital malformation syndromes predominantly associated with short stature
0.360 0.640 0.000
Q87.2 Congenital malformation syndromes predominantly involving limbs
0.360 0.640 0.000
Q87.3 Congenital malformation syndromes involving early overgrowth
0.360 0.640 0.000
Q87.5 Other congenital malformation syndromes with other skeletal changes
0.360 0.640 0.000
H93 Other disorders of ear, not elsewhere classified
0.359 0.641 0.000
H90.8 Mixed conductive and sensorineural hearing loss, unspecified
0.359 0.641 0.000
Q99 Other chromosome abnormalities, not elsewhere classified
0.359 0.641 0.000
H70.0 Acute mastoiditis
0.358 0.642 0.000
H70.2 Petrositis
0.358 0.642 0.000
Q77 Osteochondrodysplasia with defects of growth of tubular bones and spine
0.356 0.644 0.000
Q40.2 Other specified congenital malformations of stomach
0.355 0.645 0.000
Q76 Congenital malformations of spine and bony thorax
0.353 0.647 0.000
Q55.6 Other congenital malformations of penis
0.353 0.647 0.000
Q21.1 Atrial septal defect
0.350 0.650 0.000
Q28.2 Arteriovenous malformation of cerebral vessels
0.350 0.650 0.000
Q87.0 Congenital malformation syndromes predominantly affecting facial appearance
0.348 0.651 0.000
Q83.8 Other congenital malformations of breast
0.344 0.656 0.000
Q91 Edwards' syndrome and Patau's syndrome
0.341 0.659 0.000
Q92 Other trisomies and partial trisomies of the autosomes, not elsewhere classified
0.341 0.659 0.000
Q93 Monosomies and deletions from the autosomes, not elsewhere classified
0.341 0.659 0.000
Q95 Balanced rearrangements and structural markers, not elsewhere classified
0.341 0.659 0.000
Q97 Other sex chromosome abnormalities, female phenotype, not elsewhere classified
0.341 0.659 0.000
H93.8 Other specified disorders of ear
0.340 0.660 0.000
Q40.1 Congenital hiatus hernia
0.340 0.660 0.000
Q24.6 Congenital heart block
0.339 0.661 0.000
Q67.5 Congenital deformity of spine
0.339 0.661 0.000
Q78 Other osteochondrodysplasias
0.338 0.662 0.000
Q27 Other congenital malformations of peripheral vascular system
0.337 0.662 0.000
Q23.3 Congenital mitral insufficiency
0.337 0.663 0.000
Q51.0 Agenesis and aplasia of uterus
0.335 0.665 0.000
Q51.1 Doubling of uterus with doubling of cervix and vagina
0.335 0.665 0.000
Q51.4 Unicornate uterus
0.335 0.665 0.000
Q51.5 Agenesis and aplasia of cervix
0.335 0.665 0.000
Q51.6 Embryonic cyst of cervix
0.335 0.665 0.000
Q51.7 Congenital fistulae between uterus and digestive and urinary tracts
0.335 0.665 0.000
Q51.9 Congenital malformation of uterus and cervix, unspecified
0.335 0.665 0.000
Q65.8 Other congenital deformities of hip
0.335 0.665 0.000
Q39.6 Diverticulum of oesophagus
0.333 0.667 0.000
Q69 Polydactyly
0.332 0.668 0.000
Q70 Syndactyly
0.332 0.668 0.000
Q71 Reduction defects of upper limb
0.332 0.668 0.000
Q72 Reduction defects of lower limb
0.332 0.668 0.000
Q73 Reduction defects of unspecified limb
0.332 0.668 0.000
Q75 Other congenital malformations of skull and face bones
0.332 0.668 0.000
Q23.2 Congenital mitral stenosis
0.332 0.668 0.000
Q23.4 Hypoplastic left heart syndrome
0.332 0.668 0.000
Q23.8 Other congenital malformations of aortic and mitral valves
0.332 0.668 0.000
Q23.9 Congenital malformation of aortic and mitral valves, unspecified
0.332 0.668 0.000
Q90 Down's syndrome
0.331 0.669 0.000
H95.1 Other disorders following mastoidectomy
0.330 0.670 0.000
Q68 Other congenital musculoskeletal deformities
0.329 0.671 0.000
Q52 Other congenital malformations of female genitalia
0.329 0.671 0.000
Q50 Congenital malformations of ovaries, Fallopian tubes and broad ligaments
0.327 0.673 0.000
Q25 Congenital malformations of great arteries
0.326 0.673 0.000
Q60-Q64 Congenital malformations of the urinary system
0.325 0.674 0.000
Q55.4 Other congenital malformations of vas deferens, epididymis, seminal vesicles and prostate
0.324 0.676 0.000
Q55.0 Absence and aplasia of testis
0.322 0.677 0.000
Q55.1 Hypoplasia of testis and scrotum
0.322 0.677 0.000
Q55.3 Atresia of vas deferens
0.322 0.677 0.000
Q55.5 Congenital absence and aplasia of penis
0.322 0.677 0.000
Q55.8 Other specified congenital malformations of male genital organs
0.322 0.677 0.000
Q55.9 Congenital malformation of male genital organ, unspecified
0.322 0.677 0.000
Q40.0 Congenital hypertrophic pyloric stenosis
0.322 0.678 0.000
Q40.8 Other specified congenital malformations of upper alimentary tract
0.322 0.678 0.000
Q40.9 Congenital malformation of upper alimentary tract, unspecified
0.322 0.678 0.000
H90.4 Sensorineural hearing loss, unilateral with unrestricted hearing on the contralateral side
0.322 0.678 0.000
Q00-Q07 Congenital malformations of the nervous system
0.320 0.680 0.000
Q54.2 Hypospadias, penoscrotal
0.320 0.680 0.000
Q54.3 Hypospadias, perineal
0.320 0.680 0.000
Q54.4 Congenital chordee
0.320 0.680 0.000
Q79 Congenital malformations of musculoskeletal system, not elsewhere classified
0.320 0.680 0.000
Q44 Congenital malformations of gallbladder, bile ducts and liver
0.318 0.682 0.000
H73.8 Other specified disorders of tympanic membrane
0.318 0.682 0.000
Q54.0 Hypospadias, balanic
0.317 0.682 0.000
K45.8 Other specified abdominal hernia without obstruction or gangrene
0.317 0.683 0.000
Q23.0 Congenital stenosis of aortic valve
0.316 0.684 0.000
Q24.1 Levocardia
0.310 0.690 0.000
Q24.2 Cor triatriatum
0.310 0.690 0.000
Q24.3 Pulmonary infundibular stenosis
0.310 0.690 0.000
Q24.4 Congenital subaortic stenosis
0.310 0.690 0.000
Q39.0 Atresia of oesophagus without fistula
0.308 0.692 0.000
Q39.1 Atresia of oesophagus with tracheooesophageal fistula
0.308 0.692 0.000
Q39.2 Congenital tracheooesophageal fistula without atresia
0.308 0.692 0.000
Q39.3 Congenital stenosis and stricture of oesophagus
0.308 0.692 0.000
Q39.5 Congenital dilatation of oesophagus
0.308 0.692 0.000
Q39.8 Other congenital malformations of oesophagus
0.308 0.692 0.000
Q39.9 Congenital malformation of oesophagus, unspecified
0.308 0.692 0.000
Q28.1 Other malformations of precerebral vessels
0.306 0.693 0.000
Q28.8 Other specified congenital malformations of circulatory system
0.306 0.693 0.000
Q28.9 Congenital malformation of circulatory system, unspecified
0.306 0.693 0.000
Q98.4 Klinefelter's syndrome, unspecified
0.306 0.693 0.000
H95.0 Recurrent cholesteatoma of postmastoidectomy cavity
0.304 0.696 0.000
Q41.0 Congenital absence, atresia and stenosis of duodenum
0.304 0.696 0.000
Q41.1 Congenital absence, atresia and stenosis of jejunum
0.304 0.696 0.000
Q41.2 Congenital absence, atresia and stenosis of ileum
0.304 0.696 0.000
Q41.8 Congenital absence, atresia and stenosis of other specified parts of small intestine
0.304 0.696 0.000
Q41.9 Congenital absence, atresia and stenosis of small intestine, part unspecified
0.304 0.696 0.000
Q42.0 Congenital absence, atresia and stenosis of rectum with fistula
0.304 0.696 0.000
Q42.1 Congenital absence, atresia and stenosis of rectum without fistula
0.304 0.696 0.000
Q42.2 Congenital absence, atresia and stenosis of anus with fistula
0.304 0.696 0.000
Q42.3 Congenital absence, atresia and stenosis of anus without fistula
0.304 0.696 0.000
Q42.8 Congenital absence, atresia and stenosis of other parts of large intestine
0.304 0.696 0.000
Q42.9 Congenital absence, atresia and stenosis of large intestine, part unspecified
0.304 0.696 0.000
Q28.3 Other malformations of cerebral vessels
0.302 0.698 0.000
Q53 Undescended testicle
0.301 0.699 0.000
Q87.8 Other specified congenital malformation syndromes, not elsewhere classified
0.299 0.701 0.000
Q28.0 Arteriovenous malformation of precerebral vessels
0.299 0.701 0.000
Q82 Other congenital malformations of skin
0.297 0.703 0.000
H90.0 Conductive hearing loss, bilateral
0.297 0.703 0.000
Q76.4 Other congenital malformations of spine, not associated with scoliosis
0.296 0.704 0.000
Q30 Congenital malformations of nose
0.296 0.704 0.000
Q32 Congenital malformations of trachea and bronchus
0.296 0.704 0.000
Q33 Congenital malformations of lung
0.296 0.704 0.000
Q34 Other congenital malformations of respiratory system
0.296 0.704 0.000
Q65.2 Congenital dislocation of hip, unspecified
0.296 0.704 0.000
Q80.0 Ichthyosis vulgaris
0.294 0.705 0.000
Q80.1 X-linked ichthyosis
0.294 0.705 0.000
Q80.2 Lamellar ichthyosis
0.294 0.705 0.000
Q80.3 Congenital bullous ichthyosiform erythroderma
0.294 0.705 0.000
Q80.4 Harlequin foetus
0.294 0.705 0.000
Q80.8 Other congenital ichthyosis
0.294 0.705 0.000
Q80.9 Congenital ichthyosis, unspecified
0.294 0.705 0.000
Q81.0 Epidermolysis bullosa simplex
0.294 0.705 0.000
Q81.1 Epidermolysis bullosa letalis
0.294 0.705 0.000
Q81.2 Epidermolysis bullosa dystrophica
0.294 0.705 0.000
Q81.8 Other epidermolysis bullosa
0.294 0.705 0.000
Q81.9 Epidermolysis bullosa, unspecified
0.294 0.705 0.000
Q84.0 Congenital alopecia
0.294 0.705 0.000
Q84.1 Congenital morphological disturbances of hair, not elsewhere classified
0.294 0.705 0.000
Q84.2 Other congenital malformations of hair
0.294 0.705 0.000
Q84.3 Anonychia
0.294 0.705 0.000
Q84.4 Congenital leukonychia
0.294 0.705 0.000
Q84.5 Enlarged and hypertrophic nails
0.294 0.705 0.000
Q84.6 Other congenital malformations of nails
0.294 0.705 0.000
Q84.8 Other specified congenital malformations of integument
0.294 0.705 0.000
Q84.9 Congenital malformation of integument, unspecified
0.294 0.705 0.000
Q86.0 Foetal alcohol syndrome (dysmorphic)
0.294 0.705 0.000
Q86.1 Foetal hydantoin syndrome
0.294 0.705 0.000
Q86.2 Dysmorphism due to warfarin
0.294 0.705 0.000
Q86.8 Other congenital malformation syndromes due to known exogenous causes
0.294 0.705 0.000
H94 Other disorders of ear in diseases classified elsewhere
0.293 0.707 0.000
Q83.0 Congenital absence of breast with absent nipple
0.293 0.707 0.000
Q83.2 Absent nipple
0.293 0.707 0.000
Q83.3 Accessory nipple
0.293 0.707 0.000
Q83.9 Congenital malformation of breast, unspecified
0.293 0.707 0.000
Q31 Congenital malformations of larynx
0.291 0.709 0.000
K42.0 Umbilical hernia with obstruction, without gangrene
0.290 0.710 0.000
Q40.3 Congenital malformation of stomach, unspecified
0.288 0.711 0.000
H90.7 Mixed conductive and sensorineural hearing loss, unilateral with unrestricted hearing on the contralateral side
0.287 0.713 0.000
Q45.0 Agenesis, aplasia and hypoplasia of pancreas
0.286 0.713 0.000
Q45.1 Annular pancreas
0.286 0.713 0.000
Q45.2 Congenital pancreatic cyst
0.286 0.713 0.000
Q45.9 Congenital malformation of digestive system, unspecified
0.286 0.713 0.000
Q22.5 Ebstein's anomaly
0.286 0.714 0.000
Q76.5 Cervical rib
0.286 0.714 0.000
Q96.9 Turner's syndrome, unspecified
0.285 0.715 0.000
H93.9 Disorder of ear, unspecified
0.285 0.715 0.000
Q27.9 Congenital malformation of peripheral vascular system, unspecified
0.285 0.715 0.000
H90.6 Mixed conductive and sensorineural hearing loss, bilateral
0.284 0.716 0.000
Q39.4 Oesophageal web
0.283 0.716 0.000
Q65.0 Congenital dislocation of hip, unilateral
0.282 0.718 0.000
Q65.1 Congenital dislocation of hip, bilateral
0.282 0.718 0.000
Q65.3 Congenital subluxation of hip, unilateral
0.282 0.718 0.000
Q65.4 Congenital subluxation of hip, bilateral
0.282 0.718 0.000
Q65.5 Congenital subluxation of hip, unspecified
0.282 0.718 0.000
Q65.6 Unstable hip
0.282 0.718 0.000
Q65.9 Congenital deformity of hip, unspecified
0.282 0.718 0.000
Q20.0 Common arterial trunk
0.280 0.719 0.000
Q20.1 Double outlet right ventricle
0.280 0.719 0.000
Q20.2 Double outlet left ventricle
0.280 0.719 0.000
Q20.3 Discordant ventriculoarterial connexion
0.280 0.719 0.000
Q20.4 Double inlet ventricle
0.280 0.719 0.000
Q20.5 Discordant atrioventricular connexion
0.280 0.719 0.000
Q20.6 Isomerism of atrial appendages
0.280 0.719 0.000
Q20.8 Other congenital malformations of cardiac chambers and connexions
0.280 0.719 0.000
Q20.9 Congenital malformation of cardiac chambers and connexions, unspecified
0.280 0.719 0.000
Q26.0 Congenital stenosis of vena cava
0.280 0.719 0.000
Q26.1 Persistent left superior vena cava
0.280 0.719 0.000
Q26.2 Total anomalous pulmonary venous connexion
0.280 0.719 0.000
Q26.3 Partial anomalous pulmonary venous connexion
0.280 0.719 0.000
Q26.4 Anomalous pulmonary venous connexion, unspecified
0.280 0.719 0.000
Q26.5 Anomalous portal venous connexion
0.280 0.719 0.000
Q26.6 Portal vein-hepatic artery fistula
0.280 0.719 0.000
Q26.8 Other congenital malformations of great veins
0.280 0.719 0.000
Q26.9 Congenital malformation of great vein, unspecified
0.280 0.719 0.000
Q36 Cleft lip
0.279 0.720 0.000
Q45.8 Other specified congenital malformations of digestive system
0.279 0.721 0.000
Q77.4 Achondroplasia
0.279 0.721 0.000
Q67.0 Facial asymmetry
0.277 0.723 0.000
Q67.1 Compression facies
0.277 0.723 0.000
Q67.2 Dolichocephaly
0.277 0.723 0.000
Q67.3 Plagiocephaly
0.277 0.723 0.000
Q67.7 Pectus carinatum
0.277 0.723 0.000
Q67.8 Other congenital deformities of chest
0.277 0.723 0.000
Q99.8 Other specified chromosome abnormalities
0.275 0.725 0.000
Q67.4 Other congenital deformities of skull, face and jaw
0.274 0.725 0.000
H93.3 Disorders of acoustic nerve
0.272 0.728 0.000
Q37 Cleft palate with cleft lip
0.271 0.729 0.000
Q98.0 Klinefelter's syndrome karyotype 47,XXY
0.270 0.729 0.000
Q98.1 Klinefelter's syndrome, male with more than two X chromosomes
0.270 0.729 0.000
Q98.2 Klinefelter's syndrome, male with 46,XX karyotype
0.270 0.729 0.000
Q98.3 Other male with 46,XX karyotype
0.270 0.729 0.000
Q98.5 Karyotype 47,XYY
0.270 0.729 0.000
Q98.6 Male with structurally abnormal sex chromosome
0.270 0.729 0.000
Q98.7 Male with sex chromosome mosaicism
0.270 0.729 0.000
Q98.8 Other specified sex chromosome abnormalities, male phenotype
0.270 0.729 0.000
Q98.9 Sex chromosome abnormality, male phenotype, unspecified
0.270 0.729 0.000
Q45.3 Other congenital malformations of pancreas and pancreatic duct
0.270 0.729 0.000
Q62 Congenital obstructive defects of renal pelvis and congenital malformations of ureter
0.270 0.730 0.000
Q22.0 Pulmonary valve atresia
0.270 0.730 0.000
Q22.2 Congenital pulmonary valve insufficiency
0.270 0.730 0.000
Q22.3 Other congenital malformations of pulmonary valve
0.270 0.730 0.000
Q22.4 Congenital tricuspid stenosis
0.270 0.730 0.000
Q22.6 Hypoplastic right heart syndrome
0.270 0.730 0.000
Q22.8 Other congenital malformations of tricuspid valve
0.270 0.730 0.000
Q22.9 Congenital malformation of tricuspid valve, unspecified
0.270 0.730 0.000
Q56.0 Hermaphroditism, not elsewhere classified
0.270 0.730 0.000
Q56.1 Male pseudohermaphroditism, not elsewhere classified
0.270 0.730 0.000
Q56.2 Female pseudohermaphroditism, not elsewhere classified
0.270 0.730 0.000
Q56.3 Pseudohermaphroditism, unspecified
0.270 0.730 0.000
Q56.4 Indeterminate sex, unspecified
0.270 0.730 0.000
H65 Nonsuppurative otitis media
0.270 0.730 0.000
Q60 Renal agenesis and other reduction defects of kidney
0.268 0.732 0.000
H95.9 Postprocedural disorder of ear and mastoid process, unspecified
0.267 0.733 0.000
Q67.6 Pectus excavatum
0.266 0.734 0.000
Q35 Cleft palate
0.262 0.738 0.000
Q96.0 Karyotype 45,X
0.262 0.738 0.000
Q96.1 Karyotype 46,X iso (Xq)
0.262 0.738 0.000
Q96.2 Karyotype 46,X with abnormal sex chromosome, except iso (Xq)
0.262 0.738 0.000
Q96.3 Mosaicism, 45,X/46,XX or XY
0.262 0.738 0.000
Q96.4 Mosaicism, 45,X/other cell line(s) with abnormal sex chromosome
0.262 0.738 0.000
Q96.8 Other variants of Turner's syndrome
0.262 0.738 0.000
Q74 Other congenital malformations of limb(s)
0.260 0.740 0.000
Q10-Q18 Congenital malformations of eye, ear, face and neck
0.259 0.741 0.000
H93.0 Degenerative and vascular disorders of ear
0.258 0.742 0.000
Q99.0 Chimera 46,XX/46,XY
0.257 0.743 0.000
Q99.1 46,XX true hermaphrodite
0.257 0.743 0.000
Q99.2 Fragile X chromosome
0.257 0.743 0.000
Q99.9 Chromosomal abnormality, unspecified
0.257 0.743 0.000
Q52.4 Other congenital malformations of vagina
0.257 0.743 0.000
Q77.0 Achondrogenesis
0.255 0.745 0.000
Q77.1 Thanatophoric short stature
0.255 0.745 0.000
Q77.2 Short rib syndrome
0.255 0.745 0.000
Q77.3 Chondrodysplasia punctata
0.255 0.745 0.000
Q77.5 Diastrophic dysplasia
0.255 0.745 0.000
Q77.6 Chondroectodermal dysplasia
0.255 0.745 0.000
Q77.7 Spondyloepiphyseal dysplasia
0.255 0.745 0.000
Q77.8 Other osteochondrodysplasia with defects of growth of tubular bones and spine
0.255 0.745 0.000
Q77.9 Osteochondrodysplasia with defects of growth of tubular bones and spine, unspecified
0.255 0.745 0.000
Q76.2 Congenital spondylolisthesis
0.253 0.747 0.000
Q76.3 Congenital scoliosis due to congenital bony malformation
0.253 0.747 0.000
Q76.6 Other congenital malformations of ribs
0.253 0.747 0.000
Q76.7 Congenital malformation of sternum
0.253 0.747 0.000
Q76.8 Other congenital malformations of bony thorax
0.253 0.747 0.000
Q76.9 Congenital malformation of bony thorax, unspecified
0.253 0.747 0.000
H95.8 Other postprocedural disorders of ear and mastoid process
0.250 0.750 0.000
Q85 Phakomatoses, not elsewhere classified
0.249 0.751 0.000
Q78.0 Osteogenesis imperfecta
0.249 0.751 0.000
Q25.4 Other congenital malformations of aorta
0.247 0.752 0.000
H93.2 Other abnormal auditory perceptions
0.246 0.754 0.000
Q91.0 Trisomy 18, meiotic nondisjunction
0.245 0.755 0.000
Q91.1 Trisomy 18, mosaicism (mitotic nondisjunction)
0.245 0.755 0.000
Q91.2 Trisomy 18, translocation
0.245 0.755 0.000
Q91.3 Edwards' syndrome, unspecified
0.245 0.755 0.000
Q91.4 Trisomy 13, meiotic nondisjunction
0.245 0.755 0.000
Q91.5 Trisomy 13, mosaicism (mitotic nondisjunction)
0.245 0.755 0.000
Q91.6 Trisomy 13, translocation
0.245 0.755 0.000
Q91.7 Patau's syndrome, unspecified
0.245 0.755 0.000
Q92.0 Whole chromosome trisomy, meiotic nondisjunction
0.245 0.755 0.000
Q92.1 Whole chromosome trisomy, mosaicism (mitotic nondisjunction)
0.245 0.755 0.000
Q92.2 Major partial trisomy
0.245 0.755 0.000
Q92.3 Minor partial trisomy
0.245 0.755 0.000
Q92.4 Duplications seen only at prometaphase
0.245 0.755 0.000
Q92.5 Duplications with other complex rearrangements
0.245 0.755 0.000
Q92.6 Extra marker chromosomes
0.245 0.755 0.000
Q92.7 Triploidy and polyploidy
0.245 0.755 0.000
Q92.8 Other specified trisomies and partial trisomies of autosomes
0.245 0.755 0.000
Q92.9 Trisomy and partial trisomy of autosomes, unspecified
0.245 0.755 0.000
Q93.0 Whole chromosome monosomy, meiotic nondisjunction
0.245 0.755 0.000
Q93.1 Whole chromosome monosomy, mosaicism (mitotic nondisjunction)
0.245 0.755 0.000
Q93.2 Chromosome replaced with ring or dicentric
0.245 0.755 0.000
Q93.3 Deletion of short arm of chromosome 4
0.245 0.755 0.000
Q93.4 Deletion of short arm of chromosome 5
0.245 0.755 0.000
Q93.5 Other deletions of part of a chromosome
0.245 0.755 0.000
Q93.6 Deletions seen only at prometaphase
0.245 0.755 0.000
Q93.7 Deletions with other complex rearrangements
0.245 0.755 0.000
Q93.8 Other deletions from the autosomes
0.245 0.755 0.000
Q93.9 Deletion from autosomes, unspecified
0.245 0.755 0.000
Q95.0 Balanced translocation and insertion in normal individual
0.245 0.755 0.000
Q95.1 Chromosome inversion in normal individual
0.245 0.755 0.000
Q95.2 Balanced autosomal rearrangement in abnormal individual
0.245 0.755 0.000
Q95.3 Balanced sex/autosomal rearrangement in abnormal individual
0.245 0.755 0.000
Q95.4 Individuals with marker heterochromatin
0.245 0.755 0.000
Q95.5 Individuals with autosomal fragile site
0.245 0.755 0.000
Q95.8 Other balanced rearrangements and structural markers
0.245 0.755 0.000
Q95.9 Balanced rearrangement and structural marker, unspecified
0.245 0.755 0.000
Q97.0 Karyotype 47,XXX
0.245 0.755 0.000
Q97.1 Female with more than three X chromosomes
0.245 0.755 0.000
Q97.2 Mosaicism, lines with various numbers of X chromosomes
0.245 0.755 0.000
Q97.3 Female with 46,XY karyotype
0.245 0.755 0.000
Q97.8 Other specified sex chromosome abnormalities, female phenotype
0.245 0.755 0.000
Q97.9 Sex chromosome abnormality, female phenotype, unspecified
0.245 0.755 0.000
Q25.6 Stenosis of pulmonary artery
0.245 0.755 0.000
Q44.5 Other congenital malformations of bile ducts
0.244 0.755 0.000
Q78.1 Polyostotic fibrous dysplasia
0.243 0.757 0.000
Q78.2 Osteopetrosis
0.243 0.757 0.000
Q78.3 Progressive diaphyseal dysplasia
0.243 0.757 0.000
Q78.4 Enchondromatosis
0.243 0.757 0.000
Q78.5 Metaphyseal dysplasia
0.243 0.757 0.000
Q78.6 Multiple congenital exostoses
0.243 0.757 0.000
Q78.8 Other specified osteochondrodysplasias
0.243 0.757 0.000
Q78.9 Osteochondrodysplasia, unspecified
0.243 0.757 0.000
Q27.0 Congenital absence and hypoplasia of umbilical artery
0.242 0.758 0.000
Q27.1 Congenital renal artery stenosis
0.242 0.758 0.000
Q27.2 Other congenital malformations of renal artery
0.242 0.758 0.000
Q27.4 Congenital phlebectasia
0.242 0.758 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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