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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

rs2532859
log Bayes Factor = <0.0001
Chromosome 12   position 6,115,724  (GRCh37) Explore rs2532859 on Ensembl!
Variant rs2532859 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
  
O47.1 False labour at or after 37 completed weeks of gestation
0.000 0.976 0.024
E20-E35 Disorders of other endocrine glands
0.000 0.986 0.014
E22 Hyperfunction of pituitary gland
0.000 0.986 0.014
E34 Other endocrine disorders
0.000 0.986 0.014
E27 Other disorders of adrenal gland
0.000 0.987 0.013
E28 Ovarian dysfunction
0.000 0.987 0.013
E29 Testicular dysfunction
0.000 0.987 0.013
E22.0 Acromegaly and pituitary gigantism
0.000 0.987 0.013
E22.2 Syndrome of inappropriate secretion of antidiuretic hormone
0.000 0.987 0.013
E23 Hypofunction and other disorders of pituitary gland
0.000 0.987 0.013
E27.1 Primary adrenocortical insufficiency
0.000 0.988 0.012
E28.2 Polycystic ovarian syndrome
0.000 0.988 0.012
E29.1 Testicular hypofunction
0.000 0.988 0.012
E34.0 Carcinoid syndrome
0.000 0.988 0.012
S06.50 Traumatic subdural haemorrhage (without open intracranial wound)
0.012 0.988 0.000
E27.2 Addisonian crisis
0.000 0.989 0.011
E27.9 Disorder of adrenal gland, unspecified
0.000 0.989 0.011
E34.8 Other specified endocrine disorders
0.000 0.989 0.011
E27.4 Other and unspecified adrenocortical insufficiency
0.000 0.989 0.011
E20 Hypoparathyroidism
0.000 0.989 0.011
E23.6 Other disorders of pituitary gland
0.000 0.989 0.011
E24 Cushing's syndrome
0.000 0.989 0.011
E28.3 Primary ovarian failure
0.000 0.989 0.011
E34.9 Endocrine disorder, unspecified
0.000 0.989 0.011
E35 Disorders of endocrine glands in diseases classified elsewhere
0.000 0.989 0.010
E32 Diseases of thymus
0.000 0.989 0.010
E31 Polyglandular dysfunction
0.000 0.989 0.010
E30 Disorders of puberty, not elsewhere classified
0.000 0.989 0.010
I60.9 Subarachnoid haemorrhage, unspecified
0.011 0.989 0.000
E22.1 Hyperprolactinaemia
0.000 0.989 0.010
Q23.1 Congenital insufficiency of aortic valve
0.010 0.990 0.000
E22.9 Hyperfunction of pituitary gland, unspecified
0.000 0.990 0.010
E22.8 Other hyperfunction of pituitary gland
0.000 0.990 0.010
E23.2 Diabetes insipidus
0.000 0.990 0.010
S00.8 Superficial injury of other parts of head
0.000 0.990 0.010
Q23 Congenital malformations of aortic and mitral valves
0.010 0.990 0.000
E34.5 Androgen resistance syndrome
0.000 0.990 0.010
E34.4 Constitutional tall stature
0.000 0.990 0.010
E34.3 Short stature, not elsewhere classified
0.000 0.990 0.010
E34.2 Ectopic hormone secretion, not elsewhere classified
0.000 0.990 0.010
E34.1 Other hypersecretion of intestinal hormones
0.000 0.990 0.010
B18.2 Chronic viral hepatitis C
0.010 0.990 0.000
E27.5 Adrenomedullary hyperfunction
0.000 0.990 0.010
E27.0 Other adrenocortical overactivity
0.000 0.990 0.010
E28.9 Ovarian dysfunction, unspecified
0.000 0.990 0.010
E28.8 Other ovarian dysfunction
0.000 0.990 0.010
E28.1 Androgen excess
0.000 0.990 0.010
E28.0 Oestrogen excess
0.000 0.990 0.010
Q20-Q28 Congenital malformations of the circulatory system
0.010 0.990 0.000
E23.7 Disorder of pituitary gland, unspecified
0.000 0.990 0.010
E25 Adrenogenital disorders
0.000 0.990 0.010
E29.9 Testicular dysfunction, unspecified
0.000 0.990 0.009
E29.8 Other testicular dysfunction
0.000 0.990 0.009
E29.0 Testicular hyperfunction
0.000 0.990 0.009
Chapter XVII Congenital malformations, deformations and chromosomal abnormalities
0.009 0.991 0.000
E23.3 Hypothalamic dysfunction, not elsewhere classified
0.000 0.991 0.009
E23.1 Drug-induced hypopituitarism
0.000 0.991 0.009
S82.30 Fracture of lower end of tibia (closed)
0.000 0.991 0.009
Q50-Q56 Congenital malformations of genital organs
0.009 0.991 0.000
E26 Hyperaldosteronism
0.000 0.991 0.009
Q38-Q45 Other congenital malformations of the digestive system
0.009 0.991 0.000
Q65-Q79 Congenital malformations and deformations of the musculoskeletal system
0.009 0.991 0.000
E24.9 Cushing's syndrome, unspecified
0.000 0.992 0.008
E20.9 Hypoparathyroidism, unspecified
0.000 0.992 0.008
E27.3 Drug-induced adrenocortical insufficiency
0.000 0.992 0.008
E24.0 Pituitary-dependent Cushing's disease
0.000 0.992 0.008
E20.8 Other hypoparathyroidism
0.000 0.992 0.008
E20.1 Pseudohypoparathyroidism
0.000 0.992 0.008
E20.0 Idiopathic hypoparathyroidism
0.000 0.992 0.008
E24.8 Other Cushing's syndrome
0.000 0.992 0.008
E24.4 Alcohol-induced pseudo-Cushing's syndrome
0.000 0.992 0.008
E24.3 Ectopic ACTH syndrome
0.000 0.992 0.008
E24.1 Nelson's syndrome
0.000 0.992 0.008
Q23.0 Congenital stenosis of aortic valve
0.008 0.992 0.000
E23.0 Hypopituitarism
0.000 0.992 0.008
E30.9 Disorder of puberty, unspecified
0.000 0.992 0.008
E30.8 Other disorders of puberty
0.000 0.992 0.008
E30.1 Precocious puberty
0.000 0.992 0.008
E30.0 Delayed puberty
0.000 0.992 0.008
E31.9 Polyglandular dysfunction, unspecified
0.000 0.992 0.008
E31.8 Other polyglandular dysfunction
0.000 0.992 0.008
E31.1 Polyglandular hyperfunction
0.000 0.992 0.008
E31.0 Autoimmune polyglandular failure
0.000 0.992 0.008
E32.9 Disease of thymus, unspecified
0.000 0.992 0.008
E32.8 Other diseases of thymus
0.000 0.992 0.008
E32.1 Abscess of thymus
0.000 0.992 0.008
E32.0 Persistent hyperplasia of thymus
0.000 0.992 0.008
E35.8 Disorders of other endocrine glands in diseases classified elsewhere
0.000 0.992 0.008
E35.1 Disorders of adrenal glands in diseases classified elsewhere
0.000 0.992 0.008
E35.0 Disorders of thyroid gland in diseases classified elsewhere
0.000 0.992 0.008
Q27 Other congenital malformations of peripheral vascular system
0.008 0.992 0.000
Q76 Congenital malformations of spine and bony thorax
0.008 0.992 0.000
E24.2 Drug-induced Cushing's syndrome
0.000 0.992 0.008
Q44 Congenital malformations of gallbladder, bile ducts and liver
0.008 0.992 0.000
Q51 Congenital malformations of uterus and cervix
0.008 0.992 0.000
Q22 Congenital malformations of pulmonary and tricuspid valves
0.008 0.992 0.000
Q54 Hypospadias
0.007 0.992 0.000
Q23.9 Congenital malformation of aortic and mitral valves, unspecified
0.007 0.993 0.000
Q23.8 Other congenital malformations of aortic and mitral valves
0.007 0.993 0.000
Q23.4 Hypoplastic left heart syndrome
0.007 0.993 0.000
Q23.3 Congenital mitral insufficiency
0.007 0.993 0.000
Q23.2 Congenital mitral stenosis
0.007 0.993 0.000
Q50 Congenital malformations of ovaries, Fallopian tubes and broad ligaments
0.007 0.993 0.000
I60 Subarachnoid haemorrhage
0.007 0.993 0.000
Q24 Other congenital malformations of heart
0.007 0.993 0.000
Q27.9 Congenital malformation of peripheral vascular system, unspecified
0.007 0.993 0.000
Q28 Other congenital malformations of circulatory system
0.007 0.993 0.000
Q65 Congenital deformities of hip
0.007 0.993 0.000
Q10-Q18 Congenital malformations of eye, ear, face and neck
0.007 0.993 0.000
Q45 Other congenital malformations of digestive system
0.007 0.993 0.000
E27.8 Other specified disorders of adrenal gland
0.000 0.993 0.007
Q26 Congenital malformations of great veins
0.007 0.993 0.000
Q20 Congenital malformations of cardiac chambers and connexions
0.007 0.993 0.000
E25.9 Adrenogenital disorder, unspecified
0.000 0.993 0.007
E25.8 Other adrenogenital disorders
0.000 0.993 0.007
Q35-Q37 Cleft lip and cleft palate
0.007 0.993 0.000
Q25 Congenital malformations of great arteries
0.007 0.993 0.000
Q40 Other congenital malformations of upper alimentary tract
0.007 0.993 0.000
Q21 Congenital malformations of cardiac septa
0.007 0.993 0.000
Q43 Other congenital malformations of intestine
0.007 0.993 0.000
Q00-Q07 Congenital malformations of the nervous system
0.007 0.993 0.000
Q76.1 Klippel-Feil syndrome
0.007 0.993 0.000
Q38 Other congenital malformations of tongue, mouth and pharynx
0.007 0.993 0.000
Q30-Q34 Congenital malformations of the respiratory system
0.007 0.993 0.000
Q74 Other congenital malformations of limb(s)
0.007 0.993 0.000
Q90-Q99 Chromosomal abnormalities, not elsewhere classified
0.007 0.993 0.000
Q44.6 Cystic disease of liver
0.007 0.993 0.000
Q53 Undescended testicle
0.007 0.993 0.000
Q55 Other congenital malformations of male genital organs
0.007 0.993 0.000
Q52 Other congenital malformations of female genitalia
0.007 0.993 0.000
Q76.5 Cervical rib
0.007 0.993 0.000
Q43.0 Meckel's diverticulum
0.007 0.993 0.000
Q39 Congenital malformations of oesophagus
0.007 0.993 0.000
E26.9 Hyperaldosteronism, unspecified
0.000 0.993 0.006
E26.8 Other hyperaldosteronism
0.000 0.993 0.006
E26.1 Secondary hyperaldosteronism
0.000 0.993 0.006
Q56 Indeterminate sex and pseudohermaphroditism
0.007 0.993 0.000
I60.3 Subarachnoid haemorrhage from posterior communicating artery
0.007 0.993 0.000
Q42 Congenital absence, atresia and stenosis of large intestine
0.007 0.993 0.000
Q41 Congenital absence, atresia and stenosis of small intestine
0.007 0.993 0.000
Q50.5 Embryonic cyst of broad ligament
0.006 0.993 0.000
I60.1 Subarachnoid haemorrhage from middle cerebral artery
0.006 0.993 0.000
Q65.8 Other congenital deformities of hip
0.006 0.993 0.000
Q54.9 Hypospadias, unspecified
0.006 0.994 0.000
Q51.4 Unicornate uterus
0.006 0.994 0.000
O47 False labour
0.000 0.994 0.006
Q77 Osteochondrodysplasia with defects of growth of tubular bones and spine
0.006 0.994 0.000
Q75 Other congenital malformations of skull and face bones
0.006 0.994 0.000
Q73 Reduction defects of unspecified limb
0.006 0.994 0.000
Q72 Reduction defects of lower limb
0.006 0.994 0.000
Q71 Reduction defects of upper limb
0.006 0.994 0.000
Q70 Syndactyly
0.006 0.994 0.000
Q69 Polydactyly
0.006 0.994 0.000
Q68 Other congenital musculoskeletal deformities
0.006 0.994 0.000
E25.0 Congenital adrenogenital disorders associated with enzyme deficiency
0.000 0.994 0.006
Q67 Congenital musculoskeletal deformities of head, face, spine and chest
0.006 0.994 0.000
I60.2 Subarachnoid haemorrhage from anterior communicating artery
0.006 0.994 0.000
Q78 Other osteochondrodysplasias
0.006 0.994 0.000
Q40.3 Congenital malformation of stomach, unspecified
0.006 0.994 0.000
J93.1 Other spontaneous pneumothorax
0.000 0.994 0.006
Q51.2 Other doubling of uterus
0.006 0.994 0.000
Q45.3 Other congenital malformations of pancreas and pancreatic duct
0.006 0.994 0.000
Q24.0 Dextrocardia
0.006 0.994 0.000
Q38.8 Other congenital malformations of pharynx
0.006 0.994 0.000
S06.5 Traumatic subdural haemorrhage
0.006 0.994 0.000
Q66 Congenital deformities of feet
0.006 0.994 0.000
Q22.1 Congenital pulmonary valve stenosis
0.006 0.994 0.000
Q60-Q64 Congenital malformations of the urinary system
0.006 0.994 0.000
Q18 Other congenital malformations of face and neck
0.006 0.994 0.000
Q54.1 Hypospadias, penile
0.006 0.994 0.000
Q27.4 Congenital phlebectasia
0.006 0.994 0.000
Q27.2 Other congenital malformations of renal artery
0.006 0.994 0.000
Q27.1 Congenital renal artery stenosis
0.006 0.994 0.000
Q27.0 Congenital absence and hypoplasia of umbilical artery
0.006 0.994 0.000
Q51.3 Bicornate uterus
0.006 0.994 0.000
I60.7 Subarachnoid haemorrhage from intracranial artery, unspecified
0.006 0.994 0.000
Q28.3 Other malformations of cerebral vessels
0.006 0.994 0.000
Q76.9 Congenital malformation of bony thorax, unspecified
0.006 0.994 0.000
Q76.8 Other congenital malformations of bony thorax
0.006 0.994 0.000
Q76.7 Congenital malformation of sternum
0.006 0.994 0.000
Q76.6 Other congenital malformations of ribs
0.006 0.994 0.000
Q76.3 Congenital scoliosis due to congenital bony malformation
0.006 0.994 0.000
Q76.2 Congenital spondylolisthesis
0.006 0.994 0.000
Q76.0 Spina bifida occulta
0.006 0.994 0.000
Q37 Cleft palate with cleft lip
0.006 0.994 0.000
Q51.9 Congenital malformation of uterus and cervix, unspecified
0.006 0.994 0.000
Q51.7 Congenital fistulae between uterus and digestive and urinary tracts
0.006 0.994 0.000
Q51.6 Embryonic cyst of cervix
0.006 0.994 0.000
Q51.5 Agenesis and aplasia of cervix
0.006 0.994 0.000
Q51.1 Doubling of uterus with doubling of cervix and vagina
0.006 0.994 0.000
Q51.0 Agenesis and aplasia of uterus
0.006 0.994 0.000
Q44.7 Other congenital malformations of liver
0.006 0.994 0.000
Q44.5 Other congenital malformations of bile ducts
0.006 0.994 0.000
Q44.4 Choledochal cyst
0.006 0.994 0.000
Q44.3 Congenital stenosis and stricture of bile ducts
0.006 0.994 0.000
Q44.2 Atresia of bile ducts
0.006 0.994 0.000
Q44.1 Other congenital malformations of gallbladder
0.006 0.994 0.000
Q44.0 Agenesis, aplasia and hypoplasia of gallbladder
0.006 0.994 0.000
Q22.9 Congenital malformation of tricuspid valve, unspecified
0.006 0.994 0.000
Q22.8 Other congenital malformations of tricuspid valve
0.006 0.994 0.000
Q22.6 Hypoplastic right heart syndrome
0.006 0.994 0.000
Q22.5 Ebstein's anomaly
0.006 0.994 0.000
Q22.4 Congenital tricuspid stenosis
0.006 0.994 0.000
Q22.3 Other congenital malformations of pulmonary valve
0.006 0.994 0.000
Q22.2 Congenital pulmonary valve insufficiency
0.006 0.994 0.000
Q22.0 Pulmonary valve atresia
0.006 0.994 0.000
Q05 Spina bifida
0.006 0.994 0.000
S02.10 Fracture of base of skull (closed)
0.006 0.994 0.000
J93 Pneumothorax
0.000 0.994 0.006
Q54.8 Other hypospadias
0.006 0.994 0.000
Q54.4 Congenital chordee
0.006 0.994 0.000
Q54.3 Hypospadias, perineal
0.006 0.994 0.000
Q54.2 Hypospadias, penoscrotal
0.006 0.994 0.000
Q10 Congenital malformations of eyelid, lachrymal apparatus and orbit
0.006 0.994 0.000
Q25.3 Stenosis of aorta
0.005 0.994 0.000
Q50.6 Other congenital malformatons of Fallopian tube and broad ligament
0.005 0.994 0.000
Q50.3 Other congenital malformations of ovary
0.005 0.994 0.000
Q50.2 Congenital torsion of ovary
0.005 0.994 0.000
Q50.1 Developmental ovarian cyst
0.005 0.994 0.000
Q50.0 Congenital absence of ovary
0.005 0.994 0.000
Q51.8 Other congenital malformations of uterus and cervix
0.006 0.994 0.000
I60.0 Subarachnoid haemorrhage from carotid siphon and bifurcation
0.006 0.994 0.000
R94.3 Abnormal results of cardiovascular function studies
0.000 0.994 0.006
Q79 Congenital malformations of musculoskeletal system, not elsewhere classified
0.005 0.994 0.000
I60.5 Subarachnoid haemorrhage from vertebral artery
0.005 0.994 0.000
Q24.6 Congenital heart block
0.005 0.994 0.000
Q24.4 Congenital subaortic stenosis
0.005 0.994 0.000
Q24.3 Pulmonary infundibular stenosis
0.005 0.994 0.000
Q24.2 Cor triatriatum
0.005 0.994 0.000
Q24.1 Levocardia
0.005 0.994 0.000
Q39.6 Diverticulum of oesophagus
0.005 0.994 0.000
Q45.8 Other specified congenital malformations of digestive system
0.005 0.994 0.000
Q74.2 Other congenital malformations of lower limb(s), including pelvic girdle
0.005 0.994 0.000
J93.0 Spontaneous tension pneumothorax
0.000 0.994 0.006
Q28.9 Congenital malformation of circulatory system, unspecified
0.005 0.994 0.000
Q28.8 Other specified congenital malformations of circulatory system
0.005 0.994 0.000
Q28.1 Other malformations of precerebral vessels
0.005 0.994 0.000
Q28.0 Arteriovenous malformation of precerebral vessels
0.005 0.994 0.000
R93.8 Abnormal findings on diagnostic imaging of other specified body structures
0.006 0.994 0.000
Q45.9 Congenital malformation of digestive system, unspecified
0.005 0.994 0.000
Q45.2 Congenital pancreatic cyst
0.005 0.994 0.000
Q45.1 Annular pancreas
0.005 0.994 0.000
Q45.0 Agenesis, aplasia and hypoplasia of pancreas
0.005 0.994 0.000
Q65.9 Congenital deformity of hip, unspecified
0.005 0.994 0.000
Q65.6 Unstable hip
0.005 0.994 0.000
Q65.5 Congenital subluxation of hip, unspecified
0.005 0.994 0.000
Q65.4 Congenital subluxation of hip, bilateral
0.005 0.994 0.000
Q65.3 Congenital subluxation of hip, unilateral
0.005 0.994 0.000
Q65.2 Congenital dislocation of hip, unspecified
0.005 0.994 0.000
Q65.1 Congenital dislocation of hip, bilateral
0.005 0.994 0.000
Q65.0 Congenital dislocation of hip, unilateral
0.005 0.994 0.000
Q16 Congenital malformations of ear causing impairment of hearing
0.005 0.994 0.000
Q15 Other congenital malformations of eye
0.005 0.994 0.000
Q14 Congenital malformations of posterior segment of eye
0.005 0.994 0.000
Q13 Congenital malformations of anterior segment of eye
0.005 0.994 0.000
Q11 Anophthalmos, microphthalmos and macrophthalmos
0.005 0.994 0.000
Q17 Other congenital malformations of ear
0.005 0.994 0.000
Q20.9 Congenital malformation of cardiac chambers and connexions, unspecified
0.005 0.994 0.000
Q20.8 Other congenital malformations of cardiac chambers and connexions
0.005 0.994 0.000
Q20.6 Isomerism of atrial appendages
0.005 0.994 0.000
Q20.5 Discordant atrioventricular connexion
0.005 0.994 0.000
Q20.4 Double inlet ventricle
0.005 0.994 0.000
Q20.3 Discordant ventriculoarterial connexion
0.005 0.994 0.000
Q20.2 Double outlet left ventricle
0.005 0.994 0.000
Q20.1 Double outlet right ventricle
0.005 0.994 0.000
Q20.0 Common arterial trunk
0.005 0.994 0.000
Q26.9 Congenital malformation of great vein, unspecified
0.005 0.994 0.000
Q26.8 Other congenital malformations of great veins
0.005 0.994 0.000
Q26.6 Portal vein-hepatic artery fistula
0.005 0.994 0.000
Q26.5 Anomalous portal venous connexion
0.005 0.994 0.000
Q26.4 Anomalous pulmonary venous connexion, unspecified
0.005 0.994 0.000
Q26.3 Partial anomalous pulmonary venous connexion
0.005 0.994 0.000
Q26.2 Total anomalous pulmonary venous connexion
0.005 0.994 0.000
Q26.1 Persistent left superior vena cava
0.005 0.994 0.000
Q26.0 Congenital stenosis of vena cava
0.005 0.994 0.000
Q50.4 Embryonic cyst of Fallopian tube
0.005 0.995 0.000
Q54.0 Hypospadias, balanic
0.005 0.995 0.000
Q76.4 Other congenital malformations of spine, not associated with scoliosis
0.005 0.995 0.000
Q24.5 Malformation of coronary vessels
0.005 0.995 0.000
Q74.1 Congenital malformation of knee
0.005 0.995 0.000
Q36 Cleft lip
0.005 0.995 0.000
Q35 Cleft palate
0.005 0.995 0.000
Q25.9 Congenital malformation of great arteries, unspecified
0.005 0.995 0.000
Q25.8 Other congenital malformations of great arteries
0.005 0.995 0.000
Q25.7 Other congenital malformations of pulmonary artery
0.005 0.995 0.000
Q25.6 Stenosis of pulmonary artery
0.005 0.995 0.000
Q25.5 Atresia of pulmonary artery
0.005 0.995 0.000
Q25.2 Atresia of aorta
0.005 0.995 0.000
Q25.0 Patent ductus arteriosus
0.005 0.995 0.000
Q40.9 Congenital malformation of upper alimentary tract, unspecified
0.005 0.995 0.000
Q40.8 Other specified congenital malformations of upper alimentary tract
0.005 0.995 0.000
Q40.1 Congenital hiatus hernia
0.005 0.995 0.000
Q40.0 Congenital hypertrophic pyloric stenosis
0.005 0.995 0.000
Q21.3 Tetralogy of Fallot
0.005 0.995 0.000
Q24.9 Congenital malformation of the heart, unspecified
0.005 0.995 0.000
Q24.8 Other specified congenital malformations of heart
0.005 0.995 0.000
Q21.8 Other congenital malformations of cardiac septa
0.005 0.995 0.000
Q21.4 Aortopulmonary septal defect
0.005 0.995 0.000
Q21.2 Atrioventricular septal defect
0.005 0.995 0.000
Q25.4 Other congenital malformations of aorta
0.005 0.995 0.000
Q04 Other congenital malformations of brain
0.005 0.995 0.000
Q25.1 Coarctation of aorta
0.005 0.995 0.000
Q43.7 Persistent cloaca
0.005 0.995 0.000
Q43.6 Congenital fistula of rectum and anus
0.005 0.995 0.000
Q43.5 Ectopic anus
0.005 0.995 0.000
Q43.4 Duplication of intestine
0.005 0.995 0.000
Q43.2 Other congenital functional disorders of colon
0.005 0.995 0.000
Q43.1 Hirschsprung's disease
0.005 0.995 0.000
Q06 Other congenital malformations of spinal cord
0.005 0.995 0.000
Q03 Congenital hydrocephalus
0.005 0.995 0.000
Q01 Encephalocele
0.005 0.995 0.000
Q00 Anencephaly and similar malformations
0.005 0.995 0.000
Q02 Microcephaly
0.005 0.995 0.000
Q21.0 Ventricular septal defect
0.005 0.995 0.000
Q38.6 Other congenital malformations of mouth
0.005 0.995 0.000
Q38.5 Congenital malformations of palate, not elsewhere classified
0.005 0.995 0.000
Q38.4 Congenital malformations of salivary glands and ducts
0.005 0.995 0.000
Q38.3 Other congenital malformations of tongue
0.005 0.995 0.000
Q38.2 Macroglossia
0.005 0.995 0.000
Q38.1 Ankyloglossia
0.005 0.995 0.000
Q38.0 Congenital malformations of lips, not elsewhere classified
0.005 0.995 0.000
Q21.1 Atrial septal defect
0.005 0.995 0.000
Q12 Congenital lens malformations
0.005 0.995 0.000
Q28.2 Arteriovenous malformation of cerebral vessels
0.005 0.995 0.000
Q34 Other congenital malformations of respiratory system
0.005 0.995 0.000
Q33 Congenital malformations of lung
0.005 0.995 0.000
Q32 Congenital malformations of trachea and bronchus
0.005 0.995 0.000
Q31 Congenital malformations of larynx
0.005 0.995 0.000
Q30 Congenital malformations of nose
0.005 0.995 0.000
J93.8 Other pneumothorax
0.000 0.995 0.005
Q53.1 Undescended testicle, unilateral
0.005 0.995 0.000
Q74.9 Unspecified congenital malformation of limb(s)
0.005 0.995 0.000
Q74.8 Other specified congenital malformations of limb(s)
0.005 0.995 0.000
Q74.3 Arthrogryposis multiplex congenita
0.005 0.995 0.000
Q43.3 Congenital malformations of intestinal fixation
0.005 0.995 0.000
Q52.5 Fusion of labia
0.005 0.995 0.000
Q55.6 Other congenital malformations of penis
0.005 0.995 0.000
Q27.3 Peripheral arteriovenous malformation
0.005 0.995 0.000
O47.9 False labour, unspecified
0.000 0.995 0.005
Q53.9 Undescended testicle, unspecified
0.005 0.995 0.000
Q53.2 Undescended testicle, bilateral
0.005 0.995 0.000
Q53.0 Ectopic testis
0.005 0.995 0.000
Q99 Other chromosome abnormalities, not elsewhere classified
0.005 0.995 0.000
Q97 Other sex chromosome abnormalities, female phenotype, not elsewhere classified
0.005 0.995 0.000
Q95 Balanced rearrangements and structural markers, not elsewhere classified
0.005 0.995 0.000
Q93 Monosomies and deletions from the autosomes, not elsewhere classified
0.005 0.995 0.000
Q92 Other trisomies and partial trisomies of the autosomes, not elsewhere classified
0.005 0.995 0.000
Q91 Edwards' syndrome and Patau's syndrome
0.005 0.995 0.000
Q90 Down's syndrome
0.005 0.995 0.000
Q27.8 Other specified congenital malformations of peripheral vascular system
0.005 0.995 0.000
Q52.9 Congenital malformation of female genitalia, unspecified
0.005 0.995 0.000
Q52.8 Other specified congenital malformations of female genitalia
0.005 0.995 0.000
Q52.7 Other congenital malformations of vulva
0.005 0.995 0.000
Q52.6 Congenital malformation of clitoris
0.005 0.995 0.000
Q52.4 Other congenital malformations of vagina
0.005 0.995 0.000
Q52.3 Imperforate hymen
0.005 0.995 0.000
Q52.2 Congenital rectovaginal fistula
0.005 0.995 0.000
Q52.1 Doubling of vagina
0.005 0.995 0.000
Q52.0 Congenital absence of vagina
0.005 0.995 0.000
Q98 Other sex chromosome abnormalities, male phenotype, not elsewhere classified
0.005 0.995 0.000
Q40.2 Other specified congenital malformations of stomach
0.005 0.995 0.000
Q55.9 Congenital malformation of male genital organ, unspecified
0.005 0.995 0.000
Q55.8 Other specified congenital malformations of male genital organs
0.005 0.995 0.000
Q55.5 Congenital absence and aplasia of penis
0.005 0.995 0.000
Q55.4 Other congenital malformations of vas deferens, epididymis, seminal vesicles and prostate
0.005 0.995 0.000
Q55.3 Atresia of vas deferens
0.005 0.995 0.000
Q55.2 Other congenital malformations of testis and scrotum
0.005 0.995 0.000
Q55.1 Hypoplasia of testis and scrotum
0.005 0.995 0.000
Q55.0 Absence and aplasia of testis
0.005 0.995 0.000
Q39.9 Congenital malformation of oesophagus, unspecified
0.005 0.995 0.000
Q39.8 Other congenital malformations of oesophagus
0.005 0.995 0.000
Q39.5 Congenital dilatation of oesophagus
0.005 0.995 0.000
Q39.3 Congenital stenosis and stricture of oesophagus
0.005 0.995 0.000
Q39.2 Congenital tracheooesophageal fistula without atresia
0.005 0.995 0.000
Q39.1 Atresia of oesophagus with tracheooesophageal fistula
0.005 0.995 0.000
Q39.0 Atresia of oesophagus without fistula
0.005 0.995 0.000
Q74.0 Other congenital malformations of upper limb(s), including shoulder girdle
0.005 0.995 0.000
Q21.9 Congenital malformation of cardiac septum, unspecified
0.005 0.995 0.000
Q56.4 Indeterminate sex, unspecified
0.005 0.995 0.000
Q56.3 Pseudohermaphroditism, unspecified
0.005 0.995 0.000
Q56.2 Female pseudohermaphroditism, not elsewhere classified
0.005 0.995 0.000
Q56.1 Male pseudohermaphroditism, not elsewhere classified
0.005 0.995 0.000
Q56.0 Hermaphroditism, not elsewhere classified
0.005 0.995 0.000
Q60 Renal agenesis and other reduction defects of kidney
0.005 0.995 0.000
Q41.9 Congenital absence, atresia and stenosis of small intestine, part unspecified
0.005 0.995 0.000
Q41.8 Congenital absence, atresia and stenosis of other specified parts of small intestine
0.005 0.995 0.000
Q41.2 Congenital absence, atresia and stenosis of ileum
0.005 0.995 0.000
Q41.1 Congenital absence, atresia and stenosis of jejunum
0.005 0.995 0.000
Q41.0 Congenital absence, atresia and stenosis of duodenum
0.005 0.995 0.000
Q42.9 Congenital absence, atresia and stenosis of large intestine, part unspecified
0.005 0.995 0.000
Q42.8 Congenital absence, atresia and stenosis of other parts of large intestine
0.005 0.995 0.000
Q42.3 Congenital absence, atresia and stenosis of anus without fistula
0.005 0.995 0.000
Q42.2 Congenital absence, atresia and stenosis of anus with fistula
0.005 0.995 0.000
Q42.1 Congenital absence, atresia and stenosis of rectum without fistula
0.005 0.995 0.000
Q42.0 Congenital absence, atresia and stenosis of rectum with fistula
0.005 0.995 0.000
E26.0 Primary hyperaldosteronism
0.000 0.995 0.005
Q96 Turner's syndrome
0.005 0.995 0.000
Q64 Other congenital malformations of urinary system
0.005 0.995 0.000
Q67.6 Pectus excavatum
0.005 0.995 0.000
Q66.2 Metatarsus varus
0.005 0.995 0.000
Q62 Congenital obstructive defects of renal pelvis and congenital malformations of ureter
0.005 0.995 0.000
Q68.8 Other specified congenital musculoskeletal deformities
0.005 0.995 0.000
Q68.5 Congenital bowing of long bones of leg, unspecified
0.005 0.995 0.000
Q68.4 Congenital bowing of tibia and fibula
0.005 0.995 0.000
Q68.3 Congenital bowing of femur
0.005 0.995 0.000
Q68.2 Congenital deformity of knee
0.005 0.995 0.000
Q68.1 Congenital deformity of hand
0.005 0.995 0.000
Q68.0 Congenital deformity of sternocleidomastoid muscle
0.005 0.995 0.000
Q69.9 Polydactyly, unspecified
0.005 0.995 0.000
Q69.2 Accessory toe(s)
0.005 0.995 0.000
Q69.1 Accessory thumb(s)
0.005 0.995 0.000
Q69.0 Accessory finger(s)
0.005 0.995 0.000
Q70.9 Syndactyly, unspecified
0.005 0.995 0.000
Q70.4 Polysyndactyly
0.005 0.995 0.000
Q70.3 Webbed toes
0.005 0.995 0.000
Q70.2 Fused toes
0.005 0.995 0.000
Q70.1 Webbed fingers
0.005 0.995 0.000
Q70.0 Fused fingers
0.005 0.995 0.000
Q71.9 Reduction defect of upper limb, unspecified
0.005 0.995 0.000
Q71.8 Other reduction defects of upper limb(s)
0.005 0.995 0.000
Q71.6 Lobster-claw hand
0.005 0.995 0.000
Q71.5 Longitudinal reduction defect of ulna
0.005 0.995 0.000
Q71.4 Longitudinal reduction defect of radius
0.005 0.995 0.000
Q71.3 Congenital absence of hand and finger(s)
0.005 0.995 0.000
Q71.2 Congenital absence of both forearm and hand
0.005 0.995 0.000
Q71.1 Congenital absence of upper arm and forearm with hand present
0.005 0.995 0.000
Q71.0 Congenital complete absence of upper limb(s)
0.005 0.995 0.000
Q72.9 Reduction defect of lower limb, unspecified
0.005 0.995 0.000
Q72.8 Other reduction defects of lower limb(s)
0.005 0.995 0.000
Q72.7 Split foot
0.005 0.995 0.000
Q72.6 Longitudinal reduction defect of fibula
0.005 0.995 0.000
Q72.5 Longitudinal reduction defect of tibia
0.005 0.995 0.000
Q72.4 Longitudinal reduction defect of femur
0.005 0.995 0.000
Q72.3 Congenital absence of foot and toe(s)
0.005 0.995 0.000
Q72.2 Congenital absence of both lower leg and foot
0.005 0.995 0.000
Q72.1 Congenital absence of thigh and lower leg with foot present
0.005 0.995 0.000
Q72.0 Congenital complete absence of lower limb(s)
0.005 0.995 0.000
Q73.8 Other reduction defects of unspecified limb(s)
0.005 0.995 0.000
Q73.1 Phocomelia, unspecified limb(s)
0.005 0.995 0.000
Q73.0 Congenital absence of unspecified limb(s)
0.005 0.995 0.000
Q75.9 Congenital malformation of skull and face bones, unspecified
0.005 0.995 0.000
Q75.8 Other specified congenital malformations of skull and face bones
0.005 0.995 0.000
Q75.5 Oculomandibular dysostosis
0.005 0.995 0.000
Q75.4 Mandibulofacial dysostosis
0.005 0.995 0.000
Q75.3 Macrocephaly
0.005 0.995 0.000
Q75.2 Hypertelorism
0.005 0.995 0.000
Q75.1 Craniofacial dysostosis
0.005 0.995 0.000
Q75.0 Craniosynostosis
0.005 0.995 0.000
Q77.9 Osteochondrodysplasia with defects of growth of tubular bones and spine, unspecified
0.005 0.995 0.000
Q77.8 Other osteochondrodysplasia with defects of growth of tubular bones and spine
0.005 0.995 0.000
Q77.7 Spondyloepiphyseal dysplasia
0.005 0.995 0.000
Q77.6 Chondroectodermal dysplasia
0.005 0.995 0.000
Q77.5 Diastrophic dysplasia
0.005 0.995 0.000
Q77.4 Achondroplasia
0.005 0.995 0.000
Q77.3 Chondrodysplasia punctata
0.005 0.995 0.000
Q77.2 Short rib syndrome
0.005 0.995 0.000
Q77.1 Thanatophoric short stature
0.005 0.995 0.000
Q77.0 Achondrogenesis
0.005 0.995 0.000
Q18.0 Sinus, fistula and cyst of branchial cleft
0.005 0.995 0.000
Q05.9 Spina bifida, unspecified
0.005 0.995 0.000
Q18.1 Preauricular sinus and cyst
0.005 0.995 0.000
Q67.8 Other congenital deformities of chest
0.005 0.995 0.000
Q67.7 Pectus carinatum
0.005 0.995 0.000
Q67.4 Other congenital deformities of skull, face and jaw
0.005 0.995 0.000
Q67.3 Plagiocephaly
0.005 0.995 0.000
Q67.2 Dolichocephaly
0.005 0.995 0.000
Q67.1 Compression facies
0.005 0.995 0.000
Q67.0 Facial asymmetry
0.005 0.995 0.000
I60.6 Subarachnoid haemorrhage from other intracranial arteries
0.005 0.995 0.000
Q78.9 Osteochondrodysplasia, unspecified
0.005 0.995 0.000
Q78.8 Other specified osteochondrodysplasias
0.005 0.995 0.000
Q78.6 Multiple congenital exostoses
0.005 0.995 0.000
Q78.5 Metaphyseal dysplasia
0.005 0.995 0.000
Q78.4 Enchondromatosis
0.005 0.995 0.000
Q78.3 Progressive diaphyseal dysplasia
0.005 0.995 0.000
Q78.2 Osteopetrosis
0.005 0.995 0.000
Q78.1 Polyostotic fibrous dysplasia
0.005 0.995 0.000
E21 Hyperparathyroidism and other disorders of parathyroid gland
0.000 0.995 0.005
Q37.9 Unspecified cleft palate with unilateral cleft lip
0.005 0.995 0.000
Q07 Other congenital malformations of nervous system
0.005 0.995 0.000
B18 Chronic viral hepatitis
0.005 0.995 0.000
S06.51 Traumatic subdural haemorrhage (with open intracranial wound)
0.004 0.995 0.000
Q66.9 Congenital deformity of feet, unspecified
0.004 0.995 0.000
Q66.6 Other congenital valgus deformities of feet
0.004 0.995 0.000
Q66.5 Congenital pes planus
0.004 0.995 0.000
Q66.4 Talipes calcaneovalgus
0.004 0.995 0.000
Q66.1 Talipes calcaneovarus
0.004 0.995 0.000
Q66.0 Talipes equinovarus
0.004 0.995 0.000
Q80-Q89 Other congenital malformations
0.005 0.995 0.000
Q66.7 Pes cavus
0.004 0.995 0.000
J93.9 Pneumothorax, unspecified
0.000 0.995 0.005
Q78.0 Osteogenesis imperfecta
0.004 0.995 0.000
Q18.9 Congenital malformation of face and neck, unspecified
0.004 0.995 0.000
Q18.8 Other specified congenital malformations of face and neck
0.004 0.995 0.000
Q18.7 Microcheilia
0.004 0.995 0.000
Q18.6 Macrocheilia
0.004 0.995 0.000
Q18.5 Microstomia
0.004 0.995 0.000
Q18.4 Macrostomia
0.004 0.995 0.000
Q18.3 Webbing of neck
0.004 0.995 0.000
Q18.2 Other branchial cleft malformations
0.004 0.995 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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