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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-specific associations

rs4760636
log Bayes Factor = <0.0001
Chromosome 12   position 48,173,352  (GRCh37) Explore rs4760636 on Ensembl!
Variant rs4760636 is listed in the   GWAS Catalog   ⇪

Hospitalization Episode Statistics (HES)

Self-Reported Statistics (SRS)
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Results table
Term Risk
posterior probability
 No effect
posterior probability
 Protective
posterior probability
  
Z95.4 Presence of other heart-valve replacement
0.000 0.957 0.043
S62.60 Fracture of other finger (closed)
0.026 0.974 0.000
H54.4 Blindness, one eye
0.000 0.981 0.019
R47.8 Other and unspecified speech disturbances
0.018 0.982 0.000
H54 Blindness and low vision
0.000 0.983 0.017
H54.7 Unspecified visual loss
0.000 0.986 0.014
H54.1 Blindness, one eye, low vision, other eye
0.000 0.986 0.014
H54.0 Blindness, both eyes
0.000 0.986 0.014
H54.5 Low vision, one eye
0.000 0.987 0.013
H54.9 Unspecified visual impairment (binocular)
0.000 0.987 0.013
S62.6 Fracture of other finger
0.013 0.987 0.000
H54.3 Unqualified visual loss, both eyes
0.000 0.987 0.013
H54.2 Low vision, both eyes
0.000 0.988 0.012
H54.6 Unqualified visual loss, one eye
0.000 0.988 0.012
R52.2 Other chronic pain
0.011 0.989 0.000
H81.1 Benign paroxysmal vertigo
0.010 0.990 0.000
S62.61 Fracture of other finger (open)
0.009 0.991 0.000
Q21.0 Ventricular septal defect
0.000 0.991 0.009
Q20-Q28 Congenital malformations of the circulatory system
0.000 0.991 0.009
H81 Disorders of vestibular function
0.008 0.992 0.000
Q23 Congenital malformations of aortic and mitral valves
0.000 0.992 0.008
Q21 Congenital malformations of cardiac septa
0.000 0.992 0.008
Chapter XVII Congenital malformations, deformations and chromosomal abnormalities
0.000 0.992 0.008
Q61 Cystic kidney disease
0.000 0.992 0.008
Q60-Q64 Congenital malformations of the urinary system
0.000 0.992 0.008
Q00-Q07 Congenital malformations of the nervous system
0.000 0.992 0.008
Q23.1 Congenital insufficiency of aortic valve
0.000 0.992 0.008
H81.0 Meniere's disease
0.007 0.993 0.000
Q05 Spina bifida
0.000 0.993 0.007
Q25 Congenital malformations of great arteries
0.000 0.993 0.007
Q61.9 Cystic kidney disease, unspecified
0.000 0.993 0.007
Q61.2 Polycystic kidney, adult type
0.000 0.993 0.007
F41.0 Panic disorder [episodic paroxysmal anxiety]
0.000 0.993 0.007
Q65-Q79 Congenital malformations and deformations of the musculoskeletal system
0.000 0.993 0.007
Q22 Congenital malformations of pulmonary and tricuspid valves
0.000 0.993 0.007
Q21.3 Tetralogy of Fallot
0.000 0.993 0.007
Q23.0 Congenital stenosis of aortic valve
0.000 0.993 0.007
H60.9 Otitis externa, unspecified
0.007 0.993 0.000
Q61.0 Congenital single renal cyst
0.000 0.993 0.007
H81.8 Other disorders of vestibular function
0.007 0.993 0.000
Q76 Congenital malformations of spine and bony thorax
0.000 0.993 0.007
H81.2 Vestibular neuronitis
0.006 0.993 0.000
Q27 Other congenital malformations of peripheral vascular system
0.000 0.994 0.006
Q80-Q89 Other congenital malformations
0.000 0.994 0.006
Q61.3 Polycystic kidney, unspecified
0.000 0.994 0.006
Q20 Congenital malformations of cardiac chambers and connexions
0.000 0.994 0.006
Q05.4 Unspecified spina bifida with hydrocephalus
0.000 0.994 0.006
Q26 Congenital malformations of great veins
0.000 0.994 0.006
H81.4 Vertigo of central origin
0.006 0.994 0.000
Q03 Congenital hydrocephalus
0.000 0.994 0.006
Q10-Q18 Congenital malformations of eye, ear, face and neck
0.000 0.994 0.006
Q22.1 Congenital pulmonary valve stenosis
0.000 0.994 0.006
Q64 Other congenital malformations of urinary system
0.000 0.994 0.006
Q07 Other congenital malformations of nervous system
0.000 0.994 0.006
Q50-Q56 Congenital malformations of genital organs
0.000 0.994 0.006
H81.3 Other peripheral vertigo
0.006 0.994 0.000
Q76.0 Spina bifida occulta
0.000 0.994 0.006
Q05.9 Spina bifida, unspecified
0.000 0.994 0.006
Q85.0 Neurofibromatosis (nonmalignant)
0.000 0.994 0.006
Q28 Other congenital malformations of circulatory system
0.000 0.994 0.006
Q74 Other congenital malformations of limb(s)
0.000 0.994 0.006
Q85 Phakomatoses, not elsewhere classified
0.000 0.994 0.006
Q23.9 Congenital malformation of aortic and mitral valves, unspecified
0.000 0.994 0.006
Q23.8 Other congenital malformations of aortic and mitral valves
0.000 0.994 0.006
Q23.4 Hypoplastic left heart syndrome
0.000 0.994 0.006
Q23.2 Congenital mitral stenosis
0.000 0.994 0.006
Q51 Congenital malformations of uterus and cervix
0.000 0.994 0.006
Q21.4 Aortopulmonary septal defect
0.000 0.994 0.006
Q21.2 Atrioventricular septal defect
0.000 0.994 0.006
Q05.7 Lumbar spina bifida without hydrocephalus
0.000 0.994 0.006
H60 Otitis externa
0.006 0.994 0.000
Q77 Osteochondrodysplasia with defects of growth of tubular bones and spine
0.000 0.994 0.006
Q61.8 Other cystic kidney diseases
0.000 0.994 0.006
Q61.1 Polycystic kidney, infantile type
0.000 0.994 0.006
H80-H83 Diseases of inner ear
0.006 0.994 0.000
Q25.1 Coarctation of aorta
0.000 0.994 0.006
Q23.3 Congenital mitral insufficiency
0.000 0.994 0.006
Q27.8 Other specified congenital malformations of peripheral vascular system
0.000 0.994 0.006
Q21.8 Other congenital malformations of cardiac septa
0.000 0.994 0.006
Q38-Q45 Other congenital malformations of the digestive system
0.000 0.994 0.006
K50.8 Other Crohn's disease
0.006 0.994 0.000
Q06 Other congenital malformations of spinal cord
0.000 0.994 0.006
Q01 Encephalocele
0.000 0.994 0.006
Q00 Anencephaly and similar malformations
0.000 0.994 0.006
Q02 Microcephaly
0.000 0.994 0.006
Q62 Congenital obstructive defects of renal pelvis and congenital malformations of ureter
0.000 0.994 0.006
Q90-Q99 Chromosomal abnormalities, not elsewhere classified
0.000 0.994 0.006
Q25.7 Other congenital malformations of pulmonary artery
0.000 0.994 0.006
Q51.3 Bicornate uterus
0.000 0.994 0.006
Q61.5 Medullary cystic kidney
0.000 0.994 0.006
Q74.0 Other congenital malformations of upper limb(s), including shoulder girdle
0.000 0.994 0.006
Q25.4 Other congenital malformations of aorta
0.000 0.994 0.005
Q25.0 Patent ductus arteriosus
0.000 0.994 0.005
Q25.3 Stenosis of aorta
0.000 0.994 0.005
N18.4 Chronic kidney disease, stage 4
0.000 0.994 0.006
Q05.8 Sacral spina bifida without hydrocephalus
0.000 0.994 0.005
Q05.6 Thoracic spina bifida without hydrocephalus
0.000 0.994 0.005
Q05.5 Cervical spina bifida without hydrocephalus
0.000 0.994 0.005
Q05.3 Sacral spina bifida with hydrocephalus
0.000 0.994 0.005
Q05.2 Lumbar spina bifida with hydrocephalus
0.000 0.994 0.005
Q05.1 Thoracic spina bifida with hydrocephalus
0.000 0.994 0.005
Q05.0 Cervical spina bifida with hydrocephalus
0.000 0.994 0.005
Q30-Q34 Congenital malformations of the respiratory system
0.000 0.994 0.005
Q04 Other congenital malformations of brain
0.000 0.994 0.005
H81.9 Disorder of vestibular function, unspecified
0.005 0.994 0.000
Q35-Q37 Cleft lip and cleft palate
0.000 0.994 0.005
H60.2 Malignant otitis externa
0.005 0.995 0.000
Q25.9 Congenital malformation of great arteries, unspecified
0.000 0.995 0.005
Q25.8 Other congenital malformations of great arteries
0.000 0.995 0.005
Q25.5 Atresia of pulmonary artery
0.000 0.995 0.005
Q25.2 Atresia of aorta
0.000 0.995 0.005
Q21.9 Congenital malformation of cardiac septum, unspecified
0.000 0.995 0.005
Q18 Other congenital malformations of face and neck
0.000 0.995 0.005
H80 Otosclerosis
0.005 0.995 0.000
Q66 Congenital deformities of feet
0.000 0.995 0.005
Q70 Syndactyly
0.000 0.995 0.005
Q68 Other congenital musculoskeletal deformities
0.000 0.995 0.005
Q73 Reduction defects of unspecified limb
0.000 0.995 0.005
Q72 Reduction defects of lower limb
0.000 0.995 0.005
Q71 Reduction defects of upper limb
0.000 0.995 0.005
Q69 Polydactyly
0.000 0.995 0.005
Q63 Other congenital malformations of kidney
0.000 0.995 0.005
Q07.0 Arnold-Chiari syndrome
0.000 0.995 0.005
Q60 Renal agenesis and other reduction defects of kidney
0.000 0.995 0.005
H60.8 Other otitis externa
0.005 0.995 0.000
Q22.9 Congenital malformation of tricuspid valve, unspecified
0.000 0.995 0.005
Q22.8 Other congenital malformations of tricuspid valve
0.000 0.995 0.005
Q22.6 Hypoplastic right heart syndrome
0.000 0.995 0.005
Q22.4 Congenital tricuspid stenosis
0.000 0.995 0.005
Q22.3 Other congenital malformations of pulmonary valve
0.000 0.995 0.005
Q22.2 Congenital pulmonary valve insufficiency
0.000 0.995 0.005
Q22.0 Pulmonary valve atresia
0.000 0.995 0.005
Q76.5 Cervical rib
0.000 0.995 0.005
Q38 Other congenital malformations of tongue, mouth and pharynx
0.000 0.995 0.005
Q77.4 Achondroplasia
0.000 0.995 0.005
Q78 Other osteochondrodysplasias
0.000 0.995 0.005
Q76.4 Other congenital malformations of spine, not associated with scoliosis
0.000 0.995 0.005
Q03.0 Malformations of aqueduct of Sylvius
0.000 0.995 0.005
Q51.8 Other congenital malformations of uterus and cervix
0.000 0.995 0.005
K50.9 Crohn's disease, unspecified
0.005 0.995 0.000
Q25.6 Stenosis of pulmonary artery
0.000 0.995 0.005
Q74.1 Congenital malformation of knee
0.000 0.995 0.005
Q75 Other congenital malformations of skull and face bones
0.000 0.995 0.005
Q61.4 Renal dysplasia
0.000 0.995 0.005
Q54 Hypospadias
0.000 0.995 0.005
S82.20 Fracture of shaft of tibia (closed)
0.005 0.995 0.000
Z33 Pregnant state, incidental
0.000 0.995 0.005
Q79 Congenital malformations of musculoskeletal system, not elsewhere classified
0.000 0.995 0.005
Q83 Congenital malformations of breast
0.000 0.995 0.005
Q38.7 Pharyngeal pouch
0.000 0.995 0.005
Q76.9 Congenital malformation of bony thorax, unspecified
0.000 0.995 0.005
Q76.8 Other congenital malformations of bony thorax
0.000 0.995 0.005
Q76.7 Congenital malformation of sternum
0.000 0.995 0.005
Q76.6 Other congenital malformations of ribs
0.000 0.995 0.005
Q76.3 Congenital scoliosis due to congenital bony malformation
0.000 0.995 0.005
Q76.2 Congenital spondylolisthesis
0.000 0.995 0.005
Q67 Congenital musculoskeletal deformities of head, face, spine and chest
0.000 0.995 0.005
Q85.1 Tuberous sclerosis
0.000 0.995 0.005
Q64.7 Other congenital malformations of bladder and urethra
0.000 0.995 0.005
Q64.4 Malformation of urachus
0.000 0.995 0.005
H60.1 Cellulitis of external ear
0.005 0.995 0.000
Q20.9 Congenital malformation of cardiac chambers and connexions, unspecified
0.000 0.995 0.005
Q20.8 Other congenital malformations of cardiac chambers and connexions
0.000 0.995 0.005
Q20.6 Isomerism of atrial appendages
0.000 0.995 0.005
Q20.5 Discordant atrioventricular connexion
0.000 0.995 0.005
Q20.4 Double inlet ventricle
0.000 0.995 0.005
Q20.3 Discordant ventriculoarterial connexion
0.000 0.995 0.005
Q20.2 Double outlet left ventricle
0.000 0.995 0.005
Q20.1 Double outlet right ventricle
0.000 0.995 0.005
Q20.0 Common arterial trunk
0.000 0.995 0.005
Q27.4 Congenital phlebectasia
0.000 0.995 0.005
Q27.2 Other congenital malformations of renal artery
0.000 0.995 0.005
Q27.0 Congenital absence and hypoplasia of umbilical artery
0.000 0.995 0.005
Q51.2 Other doubling of uterus
0.000 0.995 0.005
R22.2 Localised swelling, mass and lump, trunk
0.000 0.995 0.005
Q86 Congenital malformation syndromes due to known exogenous causes, not elsewhere classified
0.000 0.995 0.005
Q84 Other congenital malformations of integument
0.000 0.995 0.005
Q81 Epidermolysis bullosa
0.000 0.995 0.005
Q80 Congenital ichthyosis
0.000 0.995 0.005
H60-H62 Diseases of external ear
0.005 0.995 0.000
Q54.9 Hypospadias, unspecified
0.000 0.995 0.005
Q14 Congenital malformations of posterior segment of eye
0.000 0.995 0.005
Q26.9 Congenital malformation of great vein, unspecified
0.000 0.995 0.005
Q26.8 Other congenital malformations of great veins
0.000 0.995 0.005
Q26.6 Portal vein-hepatic artery fistula
0.000 0.995 0.005
Q26.5 Anomalous portal venous connexion
0.000 0.995 0.005
Q26.3 Partial anomalous pulmonary venous connexion
0.000 0.995 0.005
Q26.2 Total anomalous pulmonary venous connexion
0.000 0.995 0.005
Q26.1 Persistent left superior vena cava
0.000 0.995 0.005
Q26.0 Congenital stenosis of vena cava
0.000 0.995 0.005
Q82 Other congenital malformations of skin
0.000 0.995 0.005
H60.0 Abscess of external ear
0.005 0.995 0.000
Q62.5 Duplication of ureter
0.000 0.995 0.005
Q64.3 Other atresia and stenosis of urethra and bladder neck
0.000 0.995 0.005
Q15 Other congenital malformations of eye
0.000 0.995 0.005
Q03.9 Congenital hydrocephalus, unspecified
0.000 0.995 0.005
Q03.8 Other congenital hydrocephalus
0.000 0.995 0.005
Q03.1 Atresia of foramina of Magendie and Luschka
0.000 0.995 0.005
Q16 Congenital malformations of ear causing impairment of hearing
0.000 0.995 0.005
Q13 Congenital malformations of anterior segment of eye
0.000 0.995 0.005
Q39 Congenital malformations of oesophagus
0.000 0.995 0.005
Q64.9 Congenital malformation of urinary system, unspecified
0.000 0.995 0.005
Q64.8 Other specified congenital malformations of urinary system
0.000 0.995 0.005
Q64.6 Congenital diverticulum of bladder
0.000 0.995 0.005
Q64.5 Congenital absence of bladder and urethra
0.000 0.995 0.005
Q64.2 Congenital posterior urethral valves
0.000 0.995 0.005
Q64.1 Exstrophy of urinary bladder
0.000 0.995 0.005
Q64.0 Epispadias
0.000 0.995 0.005
Chapter VIII Diseases of the ear and mastoid process
0.005 0.995 0.000
Q07.9 Congenital malformation of nervous system, unspecified
0.000 0.995 0.005
Q26.4 Anomalous pulmonary venous connexion, unspecified
0.000 0.995 0.005
Q12 Congenital lens malformations
0.000 0.995 0.005
Q40 Other congenital malformations of upper alimentary tract
0.000 0.995 0.005
Q56 Indeterminate sex and pseudohermaphroditism
0.000 0.995 0.005
Q28.9 Congenital malformation of circulatory system, unspecified
0.000 0.995 0.004
Q28.8 Other specified congenital malformations of circulatory system
0.000 0.995 0.004
Q28.3 Other malformations of cerebral vessels
0.000 0.995 0.005
Q28.1 Other malformations of precerebral vessels
0.000 0.995 0.004
H80.9 Otosclerosis, unspecified
0.005 0.995 0.000
Q74.9 Unspecified congenital malformation of limb(s)
0.000 0.995 0.004
Q74.8 Other specified congenital malformations of limb(s)
0.000 0.995 0.004
Q74.3 Arthrogryposis multiplex congenita
0.000 0.995 0.004
Q28.2 Arteriovenous malformation of cerebral vessels
0.000 0.995 0.005
Q51.1 Doubling of uterus with doubling of cervix and vagina
0.000 0.995 0.005
Q27.3 Peripheral arteriovenous malformation
0.000 0.995 0.005
Q51.9 Congenital malformation of uterus and cervix, unspecified
0.000 0.995 0.004
Q51.7 Congenital fistulae between uterus and digestive and urinary tracts
0.000 0.995 0.004
Q51.6 Embryonic cyst of cervix
0.000 0.995 0.004
Q51.5 Agenesis and aplasia of cervix
0.000 0.995 0.004
Q51.0 Agenesis and aplasia of uterus
0.000 0.995 0.004
Q17 Other congenital malformations of ear
0.000 0.995 0.004
H92.0 Otalgia
0.005 0.995 0.000
Q85.9 Phakomatosis, unspecified
0.000 0.995 0.004
Q62.2 Congenital megaloureter
0.000 0.995 0.004
Q24 Other congenital malformations of heart
0.000 0.995 0.004
Q22.5 Ebstein's anomaly
0.000 0.995 0.004
Q18.1 Preauricular sinus and cyst
0.000 0.995 0.004
Q77.9 Osteochondrodysplasia with defects of growth of tubular bones and spine, unspecified
0.000 0.995 0.004
Q77.8 Other osteochondrodysplasia with defects of growth of tubular bones and spine
0.000 0.995 0.004
Q77.7 Spondyloepiphyseal dysplasia
0.000 0.995 0.004
Q77.6 Chondroectodermal dysplasia
0.000 0.995 0.004
Q77.5 Diastrophic dysplasia
0.000 0.995 0.004
Q77.3 Chondrodysplasia punctata
0.000 0.995 0.004
Q77.2 Short rib syndrome
0.000 0.995 0.004
Q77.1 Thanatophoric short stature
0.000 0.995 0.004
Q77.0 Achondrogenesis
0.000 0.995 0.004
H80.0 Otosclerosis involving oval window, nonobliterative
0.004 0.995 0.000
Q51.4 Unicornate uterus
0.000 0.995 0.004
Q99 Other chromosome abnormalities, not elsewhere classified
0.000 0.995 0.004
H90.1 Conductive hearing loss, unilateral with unrestricted hearing on the contralateral side
0.005 0.995 0.000
Q27.1 Congenital renal artery stenosis
0.000 0.995 0.004
Q66.9 Congenital deformity of feet, unspecified
0.000 0.995 0.004
Q66.3 Other congenital varus deformities of feet
0.000 0.995 0.004
H82 Vertiginous syndromes in diseases classified elsewhere
0.004 0.995 0.000
Q11 Anophthalmos, microphthalmos and macrophthalmos
0.000 0.995 0.004
Q76.1 Klippel-Feil syndrome
0.000 0.995 0.004
Q07.8 Other specified congenital malformations of nervous system
0.000 0.996 0.004
Q60.2 Renal agenesis, unspecified
0.000 0.996 0.004
Q00.2 Iniencephaly
0.000 0.996 0.004
Q00.1 Craniorachischisis
0.000 0.996 0.004
Q00.0 Anencephaly
0.000 0.996 0.004
Q01.9 Encephalocele, unspecified
0.000 0.996 0.004
Q01.8 Encephalocele of other sites
0.000 0.996 0.004
Q01.2 Occipital encephalocele
0.000 0.996 0.004
Q01.1 Nasofrontal encephalocele
0.000 0.996 0.004
Q01.0 Frontal encephalocele
0.000 0.996 0.004
Q06.9 Congenital malformation of spinal cord, unspecified
0.000 0.996 0.004
Q06.8 Other specified congenital malformations of spinal cord
0.000 0.996 0.004
Q06.4 Hydromyelia
0.000 0.996 0.004
Q06.3 Other congenital cauda equina malformations
0.000 0.996 0.004
Q06.2 Diastematomyelia
0.000 0.996 0.004
Q06.1 Hypoplasia and dysplasia of spinal cord
0.000 0.996 0.004
Q06.0 Amyelia
0.000 0.996 0.004
Q18.0 Sinus, fistula and cyst of branchial cleft
0.000 0.996 0.004
Q62.8 Other congenital malformations of ureter
0.000 0.996 0.004
Q62.7 Congenital vesico-uretero-renal reflux
0.000 0.996 0.004
Q62.6 Malposition of ureter
0.000 0.996 0.004
Q62.4 Agenesis of ureter
0.000 0.996 0.004
Q62.0 Congenital hydronephrosis
0.000 0.996 0.004
Q42 Congenital absence, atresia and stenosis of large intestine
0.000 0.996 0.004
Q41 Congenital absence, atresia and stenosis of small intestine
0.000 0.996 0.004
Q90 Down's syndrome
0.000 0.996 0.004
K50 Crohn's disease [regional enteritis]
0.004 0.996 0.000
Q10 Congenital malformations of eyelid, lachrymal apparatus and orbit
0.000 0.996 0.004
Q97 Other sex chromosome abnormalities, female phenotype, not elsewhere classified
0.000 0.996 0.004
Q95 Balanced rearrangements and structural markers, not elsewhere classified
0.000 0.996 0.004
Q93 Monosomies and deletions from the autosomes, not elsewhere classified
0.000 0.996 0.004
Q92 Other trisomies and partial trisomies of the autosomes, not elsewhere classified
0.000 0.996 0.004
Q91 Edwards' syndrome and Patau's syndrome
0.000 0.996 0.004
H60.3 Other infective otitis externa
0.004 0.996 0.000
Q39.4 Oesophageal web
0.000 0.996 0.004
R47 Speech disturbances, not elsewhere classified
0.004 0.996 0.000
H33.2 Serous retinal detachment
0.004 0.996 0.000
Q28.0 Arteriovenous malformation of precerebral vessels
0.000 0.996 0.004
Q04.6 Congenital cerebral cysts
0.000 0.996 0.004
Q62.3 Other obstructive defects of renal pelvis and ureter
0.000 0.996 0.004
Q52 Other congenital malformations of female genitalia
0.000 0.996 0.004
R52 Pain, not elsewhere classified
0.004 0.996 0.000
H90-H95 Other disorders of ear
0.004 0.996 0.000
Q38.1 Ankyloglossia
0.000 0.996 0.004
R56.8 Other and unspecified convulsions
0.004 0.996 0.000
Q65 Congenital deformities of hip
0.001 0.996 0.004
Q63.9 Congenital malformation of kidney, unspecified
0.000 0.996 0.004
Q63.2 Ectopic kidney
0.000 0.996 0.004
H92 Otalgia and effusion of ear
0.004 0.996 0.000
Q34 Other congenital malformations of respiratory system
0.000 0.996 0.004
Q33 Congenital malformations of lung
0.000 0.996 0.004
Q32 Congenital malformations of trachea and bronchus
0.000 0.996 0.004
Q04.9 Congenital malformation of brain, unspecified
0.000 0.996 0.004
Q04.5 Megalencephaly
0.000 0.996 0.004
Q04.4 Septo-optic dysplasia
0.000 0.996 0.004
Q04.3 Other reduction deformities of brain
0.000 0.996 0.004
Q04.2 Holoprosencephaly
0.000 0.996 0.004
Q04.1 Arhinencephaly
0.000 0.996 0.004
Q04.0 Congenital malformations of corpus callosum
0.000 0.996 0.004
Q36 Cleft lip
0.000 0.996 0.004
Q87 Other specified congenital malformation syndromes affecting multiple systems
0.000 0.996 0.004
Q98 Other sex chromosome abnormalities, male phenotype, not elsewhere classified
0.000 0.996 0.004
Q96 Turner's syndrome
0.000 0.996 0.004
Q78.2 Osteopetrosis
0.000 0.996 0.004
Q85.8 Other phakomatoses, not elsewhere classified
0.000 0.996 0.004
Q55 Other congenital malformations of male genital organs
0.000 0.996 0.004
Q18.9 Congenital malformation of face and neck, unspecified
0.000 0.996 0.004
Q18.8 Other specified congenital malformations of face and neck
0.000 0.996 0.004
Q18.7 Microcheilia
0.000 0.996 0.004
Q18.6 Macrocheilia
0.000 0.996 0.004
Q18.5 Microstomia
0.000 0.996 0.004
Q18.4 Macrostomia
0.000 0.996 0.004
Q18.3 Webbing of neck
0.000 0.996 0.004
Q18.2 Other branchial cleft malformations
0.000 0.996 0.004
Q83.8 Other congenital malformations of breast
0.000 0.996 0.004
H80.8 Other otosclerosis
0.004 0.996 0.000
H80.2 Cochlear otosclerosis
0.004 0.996 0.000
H80.1 Otosclerosis involving oval window, obliterative
0.004 0.996 0.000
Q66.5 Congenital pes planus
0.000 0.996 0.004
Q66.4 Talipes calcaneovalgus
0.000 0.996 0.004
Q66.1 Talipes calcaneovarus
0.000 0.996 0.004
Q68.8 Other specified congenital musculoskeletal deformities
0.000 0.996 0.004
Q68.5 Congenital bowing of long bones of leg, unspecified
0.000 0.996 0.004
Q68.4 Congenital bowing of tibia and fibula
0.000 0.996 0.004
Q68.3 Congenital bowing of femur
0.000 0.996 0.004
Q68.2 Congenital deformity of knee
0.000 0.996 0.004
Q68.1 Congenital deformity of hand
0.000 0.996 0.004
Q68.0 Congenital deformity of sternocleidomastoid muscle
0.000 0.996 0.004
Q70.9 Syndactyly, unspecified
0.000 0.996 0.004
Q70.4 Polysyndactyly
0.000 0.996 0.004
Q70.3 Webbed toes
0.000 0.996 0.004
Q70.2 Fused toes
0.000 0.996 0.004
Q70.1 Webbed fingers
0.000 0.996 0.004
Q70.0 Fused fingers
0.000 0.996 0.004
Q40.3 Congenital malformation of stomach, unspecified
0.000 0.996 0.004
Q69.9 Polydactyly, unspecified
0.000 0.996 0.004
Q69.2 Accessory toe(s)
0.000 0.996 0.004
Q69.1 Accessory thumb(s)
0.000 0.996 0.004
Q69.0 Accessory finger(s)
0.000 0.996 0.004
Q71.9 Reduction defect of upper limb, unspecified
0.000 0.996 0.004
Q71.8 Other reduction defects of upper limb(s)
0.000 0.996 0.004
Q71.6 Lobster-claw hand
0.000 0.996 0.004
Q71.5 Longitudinal reduction defect of ulna
0.000 0.996 0.004
Q71.4 Longitudinal reduction defect of radius
0.000 0.996 0.004
Q71.3 Congenital absence of hand and finger(s)
0.000 0.996 0.004
Q71.2 Congenital absence of both forearm and hand
0.000 0.996 0.004
Q71.1 Congenital absence of upper arm and forearm with hand present
0.000 0.996 0.004
Q71.0 Congenital complete absence of upper limb(s)
0.000 0.996 0.004
Q72.9 Reduction defect of lower limb, unspecified
0.000 0.996 0.004
Q72.8 Other reduction defects of lower limb(s)
0.000 0.996 0.004
Q72.7 Split foot
0.000 0.996 0.004
Q72.6 Longitudinal reduction defect of fibula
0.000 0.996 0.004
Q72.5 Longitudinal reduction defect of tibia
0.000 0.996 0.004
Q72.4 Longitudinal reduction defect of femur
0.000 0.996 0.004
Q72.3 Congenital absence of foot and toe(s)
0.000 0.996 0.004
Q72.2 Congenital absence of both lower leg and foot
0.000 0.996 0.004
Q72.1 Congenital absence of thigh and lower leg with foot present
0.000 0.996 0.004
Q72.0 Congenital complete absence of lower limb(s)
0.000 0.996 0.004
Q73.8 Other reduction defects of unspecified limb(s)
0.000 0.996 0.004
Q73.1 Phocomelia, unspecified limb(s)
0.000 0.996 0.004
Q73.0 Congenital absence of unspecified limb(s)
0.000 0.996 0.004
Q63.3 Hyperplastic and giant kidney
0.000 0.996 0.004
Q31 Congenital malformations of larynx
0.000 0.996 0.004
Q60.6 Potter's syndrome
0.000 0.996 0.004
Q60.5 Renal hypoplasia, unspecified
0.000 0.996 0.004
Q60.4 Renal hypoplasia, bilateral
0.000 0.996 0.004
Q60.1 Renal agenesis, bilateral
0.000 0.996 0.004
Q66.2 Metatarsus varus
0.000 0.996 0.004
Q37 Cleft palate with cleft lip
0.000 0.996 0.004
Q38.0 Congenital malformations of lips, not elsewhere classified
0.000 0.996 0.004
Q66.6 Other congenital valgus deformities of feet
0.000 0.996 0.004
Q38.4 Congenital malformations of salivary glands and ducts
0.000 0.996 0.004
Q38.3 Other congenital malformations of tongue
0.000 0.996 0.004
Q38.2 Macroglossia
0.000 0.996 0.004
Q78.9 Osteochondrodysplasia, unspecified
0.000 0.996 0.004
Q78.8 Other specified osteochondrodysplasias
0.000 0.996 0.004
Q78.6 Multiple congenital exostoses
0.000 0.996 0.004
Q78.5 Metaphyseal dysplasia
0.000 0.996 0.004
Q78.4 Enchondromatosis
0.000 0.996 0.004
Q78.3 Progressive diaphyseal dysplasia
0.000 0.996 0.004
Q78.1 Polyostotic fibrous dysplasia
0.000 0.996 0.004
Q63.8 Other specified congenital malformations of kidney
0.000 0.996 0.004
Q79.6 Ehlers-Danlos syndrome
0.000 0.996 0.004
H62 Disorders of external ear in diseases classified elsewhere
0.004 0.996 0.000
Q45 Other congenital malformations of digestive system
0.000 0.996 0.004
H60.5 Acute otitis externa, non-infective
0.004 0.996 0.000
H73.8 Other specified disorders of tympanic membrane
0.004 0.996 0.000
Q27.9 Congenital malformation of peripheral vascular system, unspecified
0.000 0.996 0.004
Q63.1 Lobulated, fused and horseshoe kidney
0.000 0.996 0.004
Q50 Congenital malformations of ovaries, Fallopian tubes and broad ligaments
0.000 0.996 0.004
Q38.6 Other congenital malformations of mouth
0.000 0.996 0.004
Q62.1 Atresia and stenosis of ureter
0.000 0.996 0.004
Q83.1 Accessory breast
0.000 0.996 0.004
Q75.9 Congenital malformation of skull and face bones, unspecified
0.000 0.996 0.004
Q75.8 Other specified congenital malformations of skull and face bones
0.000 0.996 0.004
Q75.5 Oculomandibular dysostosis
0.000 0.996 0.004
Q75.3 Macrocephaly
0.000 0.996 0.004
Q75.2 Hypertelorism
0.000 0.996 0.004
Q75.1 Craniofacial dysostosis
0.000 0.996 0.004
Q75.0 Craniosynostosis
0.000 0.996 0.004
Q79.1 Other congenital malformations of diaphragm
0.000 0.996 0.004
Q82.5 Congenital nonneoplastic naevus
0.000 0.996 0.004
R52.0 Acute pain
0.004 0.996 0.000
Q89 Other congenital malformations, not elsewhere classified
0.000 0.996 0.004
Q38.8 Other congenital malformations of pharynx
0.000 0.996 0.004
Q38.5 Congenital malformations of palate, not elsewhere classified
0.000 0.996 0.004
Q66.0 Talipes equinovarus
0.000 0.996 0.004
Q54.0 Hypospadias, balanic
0.000 0.996 0.004
Q30 Congenital malformations of nose
0.000 0.996 0.004
Q54.4 Congenital chordee
0.000 0.996 0.004
Q54.3 Hypospadias, perineal
0.000 0.996 0.004
Q54.2 Hypospadias, penoscrotal
0.000 0.996 0.004
Q60.3 Renal hypoplasia, unilateral
0.000 0.996 0.004
Q74.2 Other congenital malformations of lower limb(s), including pelvic girdle
0.000 0.996 0.004
Q79.9 Congenital malformation of musculoskeletal system, unspecified
0.000 0.996 0.004
Q79.5 Other congenital malformations of abdominal wall
0.000 0.996 0.004
Q79.4 Prune belly syndrome
0.000 0.996 0.004
Q79.3 Gastroschisis
0.000 0.996 0.004
Q79.2 Exomphalos
0.000 0.996 0.004
Q35 Cleft palate
0.000 0.996 0.004
Q66.7 Pes cavus
0.000 0.996 0.004
Q67.8 Other congenital deformities of chest
0.000 0.996 0.004
Q67.7 Pectus carinatum
0.000 0.996 0.004
Q67.3 Plagiocephaly
0.000 0.996 0.004
Q67.2 Dolichocephaly
0.000 0.996 0.004
Q67.1 Compression facies
0.000 0.996 0.004
Q67.0 Facial asymmetry
0.000 0.996 0.004
Q83.9 Congenital malformation of breast, unspecified
0.000 0.996 0.004
Q83.2 Absent nipple
0.000 0.996 0.004
Q83.0 Congenital absence of breast with absent nipple
0.000 0.996 0.004
Q14.1 Congenital malformation of retina
0.000 0.996 0.004
Q24.6 Congenital heart block
0.000 0.996 0.004
L72.1 Trichilemmal cyst
0.000 0.996 0.004
R52.9 Pain, unspecified
0.004 0.996 0.000
I35.2 Aortic (valve) stenosis with insufficiency
0.000 0.996 0.004
H91 Other hearing loss
0.004 0.996 0.000
Q04.8 Other specified congenital malformations of brain
0.000 0.996 0.003
Q80.9 Congenital ichthyosis, unspecified
0.000 0.996 0.004
Q80.8 Other congenital ichthyosis
0.000 0.996 0.004
Q80.4 Harlequin foetus
0.000 0.996 0.004
Q80.3 Congenital bullous ichthyosiform erythroderma
0.000 0.996 0.004
Q80.2 Lamellar ichthyosis
0.000 0.996 0.004
Q80.1 X-linked ichthyosis
0.000 0.996 0.004
Q80.0 Ichthyosis vulgaris
0.000 0.996 0.004
Q81.9 Epidermolysis bullosa, unspecified
0.000 0.996 0.004
Q81.8 Other epidermolysis bullosa
0.000 0.996 0.004
Q81.2 Epidermolysis bullosa dystrophica
0.000 0.996 0.004
Q81.1 Epidermolysis bullosa letalis
0.000 0.996 0.004
Q81.0 Epidermolysis bullosa simplex
0.000 0.996 0.004
Q84.9 Congenital malformation of integument, unspecified
0.000 0.996 0.004
Q84.8 Other specified congenital malformations of integument
0.000 0.996 0.004
Q84.6 Other congenital malformations of nails
0.000 0.996 0.004
Q84.5 Enlarged and hypertrophic nails
0.000 0.996 0.004
Q84.4 Congenital leukonychia
0.000 0.996 0.004
Q84.3 Anonychia
0.000 0.996 0.004
Q84.2 Other congenital malformations of hair
0.000 0.996 0.004
Q84.1 Congenital morphological disturbances of hair, not elsewhere classified
0.000 0.996 0.004
Q84.0 Congenital alopecia
0.000 0.996 0.004
Q86.8 Other congenital malformation syndromes due to known exogenous causes
0.000 0.996 0.004
Q86.2 Dysmorphism due to warfarin
0.000 0.996 0.004
Q86.1 Foetal hydantoin syndrome
0.000 0.996 0.004
Q86.0 Foetal alcohol syndrome (dysmorphic)
0.000 0.996 0.004
S68.1 Traumatic amputation of other single finger (complete)(partial)
0.004 0.996 0.000
Q53 Undescended testicle
0.000 0.996 0.004
Q67.4 Other congenital deformities of skull, face and jaw
0.000 0.996 0.004
Q78.0 Osteogenesis imperfecta
0.000 0.996 0.004
Q14.9 Congenital malformation of posterior segment of eye, unspecified
0.000 0.996 0.004
Q14.8 Other congenital malformations of posterior segment of eye
0.000 0.996 0.004
Q14.3 Congenital malformation of choroid
0.000 0.996 0.004
Q14.2 Congenital malformation of optic disk
0.000 0.996 0.004
Q14.0 Congenital malformation of vitreous humour
0.000 0.996 0.004
Q82.9 Congenital malformation of skin, unspecified
0.000 0.996 0.004
Q82.4 Ectodermal dysplasia (anhidrotic)
0.000 0.996 0.004
Q82.3 Incontinentia pigmenti
0.000 0.996 0.004
Q82.1 Xeroderma pigmentosum
0.000 0.996 0.004
Q24.9 Congenital malformation of the heart, unspecified
0.000 0.996 0.004
Q66.8 Other congenital deformities of feet
0.000 0.996 0.004
Q79.0 Congenital diaphragmatic hernia
0.000 0.996 0.003
Q67.6 Pectus excavatum
0.000 0.996 0.003
N23 Unspecified renal colic
0.004 0.996 0.000
Q13.9 Congenital malformation of anterior segment of eye, unspecified
0.000 0.996 0.003
Q13.8 Other congenital malformations of anterior segment of eye
0.000 0.996 0.003
Q13.5 Blue sclera
0.000 0.996 0.003
Q13.4 Other congenital corneal malformations
0.000 0.996 0.003

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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