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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

rs1641537
log Bayes Factor = <0.0001
Chromosome 17   position 7,545,721  (GRCh37) Explore rs1641537 on Ensembl!
Variant rs1641537 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
  
D25.9 Leiomyoma of uterus, unspecified
0.000 0.951 0.049
D25 Leiomyoma of uterus
0.000 0.961 0.039
D25.2 Subserosal leiomyoma of uterus
0.000 0.963 0.037
D25.0 Submucous leiomyoma of uterus
0.000 0.965 0.035
D25.1 Intramural leiomyoma of uterus
0.000 0.981 0.019
Q61.3 Polycystic kidney, unspecified
0.000 0.985 0.015
Q61 Cystic kidney disease
0.000 0.985 0.015
N30.8 Other cystitis
0.000 0.986 0.014
Q61.2 Polycystic kidney, adult type
0.000 0.986 0.014
Z03.5 Observation for other suspected cardiovascular diseases
0.000 0.988 0.012
Q61.9 Cystic kidney disease, unspecified
0.000 0.988 0.012
Q61.4 Renal dysplasia
0.000 0.988 0.012
Q61.5 Medullary cystic kidney
0.000 0.989 0.011
Q61.0 Congenital single renal cyst
0.000 0.989 0.011
Q61.8 Other cystic kidney diseases
0.000 0.989 0.011
Q61.1 Polycystic kidney, infantile type
0.000 0.989 0.011
Q60-Q64 Congenital malformations of the urinary system
0.000 0.989 0.011
D33.3 Cranial nerves
0.000 0.991 0.009
Q64 Other congenital malformations of urinary system
0.000 0.991 0.009
Q20-Q28 Congenital malformations of the circulatory system
0.000 0.991 0.009
Q24 Other congenital malformations of heart
0.000 0.992 0.008
Q25 Congenital malformations of great arteries
0.000 0.992 0.008
F41.2 Mixed anxiety and depressive disorder
0.000 0.992 0.008
Q63 Other congenital malformations of kidney
0.000 0.992 0.008
Q23 Congenital malformations of aortic and mitral valves
0.000 0.992 0.008
Q23.1 Congenital insufficiency of aortic valve
0.000 0.992 0.008
Q62 Congenital obstructive defects of renal pelvis and congenital malformations of ureter
0.000 0.992 0.008
Q60 Renal agenesis and other reduction defects of kidney
0.000 0.992 0.008
Q27 Other congenital malformations of peripheral vascular system
0.000 0.992 0.008
L60.8 Other nail disorders
0.000 0.993 0.007
Chapter XVII Congenital malformations, deformations and chromosomal abnormalities
0.000 0.993 0.007
Q64.7 Other congenital malformations of bladder and urethra
0.000 0.993 0.007
I08.3 Combined disorders of mitral, aortic and tricuspid valves
0.000 0.993 0.007
Q25.6 Stenosis of pulmonary artery
0.000 0.993 0.007
Q25.0 Patent ductus arteriosus
0.000 0.993 0.007
Q24.8 Other specified congenital malformations of heart
0.000 0.993 0.007
Q64.4 Malformation of urachus
0.000 0.993 0.007
Q22 Congenital malformations of pulmonary and tricuspid valves
0.000 0.993 0.007
Q24.6 Congenital heart block
0.000 0.993 0.007
Q27.3 Peripheral arteriovenous malformation
0.000 0.993 0.007
Q63.2 Ectopic kidney
0.000 0.993 0.006
Q28 Other congenital malformations of circulatory system
0.000 0.993 0.007
Q24.5 Malformation of coronary vessels
0.000 0.993 0.006
Q26 Congenital malformations of great veins
0.000 0.993 0.006
Q64.9 Congenital malformation of urinary system, unspecified
0.000 0.993 0.006
Q64.8 Other specified congenital malformations of urinary system
0.000 0.993 0.006
Q64.6 Congenital diverticulum of bladder
0.000 0.993 0.006
Q64.5 Congenital absence of bladder and urethra
0.000 0.993 0.006
Q64.2 Congenital posterior urethral valves
0.000 0.993 0.006
Q64.1 Exstrophy of urinary bladder
0.000 0.993 0.006
Q64.0 Epispadias
0.000 0.993 0.006
Q20 Congenital malformations of cardiac chambers and connexions
0.000 0.993 0.006
Q62.1 Atresia and stenosis of ureter
0.000 0.994 0.006
Q25.1 Coarctation of aorta
0.000 0.994 0.006
Q24.9 Congenital malformation of the heart, unspecified
0.000 0.994 0.006
Q25.4 Other congenital malformations of aorta
0.000 0.994 0.006
Q24.0 Dextrocardia
0.000 0.994 0.006
Q63.9 Congenital malformation of kidney, unspecified
0.000 0.994 0.006
Q10-Q18 Congenital malformations of eye, ear, face and neck
0.000 0.994 0.006
Q24.4 Congenital subaortic stenosis
0.000 0.994 0.006
M10.99 Gout, unspecified (Site unspecified)
0.000 0.994 0.006
Q24.3 Pulmonary infundibular stenosis
0.000 0.994 0.006
Q24.2 Cor triatriatum
0.000 0.994 0.006
Q24.1 Levocardia
0.000 0.994 0.006
Q25.9 Congenital malformation of great arteries, unspecified
0.000 0.994 0.006
Q25.8 Other congenital malformations of great arteries
0.000 0.994 0.006
Q25.5 Atresia of pulmonary artery
0.000 0.994 0.006
Q25.2 Atresia of aorta
0.000 0.994 0.006
Q64.3 Other atresia and stenosis of urethra and bladder neck
0.000 0.994 0.006
Q25.7 Other congenital malformations of pulmonary artery
0.000 0.994 0.006
Q63.3 Hyperplastic and giant kidney
0.000 0.994 0.006
Q62.8 Other congenital malformations of ureter
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
Q35-Q37 Cleft lip and cleft palate
0.000 0.994 0.006
Q25.3 Stenosis of aorta
0.000 0.994 0.006
Q27.9 Congenital malformation of peripheral vascular system, unspecified
0.000 0.994 0.006
Q62.7 Congenital vesico-uretero-renal reflux
0.000 0.994 0.006
Q62.6 Malposition of ureter
0.000 0.994 0.006
Q62.4 Agenesis of ureter
0.000 0.994 0.006
Q62.0 Congenital hydronephrosis
0.000 0.994 0.006
Q62.3 Other obstructive defects of renal pelvis and ureter
0.000 0.994 0.006
Q27.1 Congenital renal artery stenosis
0.000 0.994 0.006
Q27.8 Other specified congenital malformations of peripheral vascular system
0.000 0.994 0.006
Q60.3 Renal hypoplasia, unilateral
0.000 0.994 0.006
Q60.6 Potter's syndrome
0.000 0.994 0.006
Q60.5 Renal hypoplasia, unspecified
0.000 0.994 0.006
Q60.4 Renal hypoplasia, bilateral
0.000 0.994 0.006
Q60.1 Renal agenesis, bilateral
0.000 0.994 0.006
Q27.4 Congenital phlebectasia
0.000 0.994 0.006
Q27.2 Other congenital malformations of renal artery
0.000 0.994 0.006
Q27.0 Congenital absence and hypoplasia of umbilical artery
0.000 0.994 0.006
Q63.0 Accessory kidney
0.000 0.994 0.006
J40 Bronchitis, not specified as acute or chronic
0.000 0.994 0.006
Q63.8 Other specified congenital malformations of kidney
0.000 0.994 0.005
Q38-Q45 Other congenital malformations of the digestive system
0.000 0.994 0.006
Q00-Q07 Congenital malformations of the nervous system
0.000 0.994 0.006
Q60.2 Renal agenesis, unspecified
0.000 0.994 0.005
Q63.1 Lobulated, fused and horseshoe kidney
0.000 0.994 0.005
Q90-Q99 Chromosomal abnormalities, not elsewhere classified
0.000 0.994 0.005
Q23.3 Congenital mitral insufficiency
0.000 0.994 0.005
Q28.0 Arteriovenous malformation of precerebral vessels
0.000 0.994 0.005
Q22.5 Ebstein's anomaly
0.000 0.994 0.005
Q60.0 Renal agenesis, unilateral
0.000 0.994 0.005
Q30-Q34 Congenital malformations of the respiratory system
0.000 0.995 0.005
D36.1 Peripheral nerves and autonomic nervous system
0.000 0.995 0.005
Q62.2 Congenital megaloureter
0.000 0.995 0.005
Q14 Congenital malformations of posterior segment of eye
0.000 0.995 0.005
G40.2 Localisation-related (focal) (partial) symptomatic epilepsy and epileptic syndromes with complex partial seizures
0.000 0.995 0.005
Q23.0 Congenital stenosis of aortic valve
0.000 0.995 0.005
I33.0 Acute and subacute infective endocarditis
0.000 0.995 0.005
Q62.5 Duplication of ureter
0.000 0.995 0.005
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
I08 Multiple valve diseases
0.000 0.995 0.005
Q26.4 Anomalous pulmonary venous connexion, unspecified
0.000 0.995 0.005
Q28.9 Congenital malformation of circulatory system, unspecified
0.000 0.995 0.005
Q28.8 Other specified congenital malformations of circulatory system
0.000 0.995 0.005
Q28.1 Other malformations of precerebral vessels
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
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
Q22.1 Congenital pulmonary valve stenosis
0.000 0.995 0.005
G40.9 Epilepsy, unspecified
0.000 0.995 0.005
Q28.2 Arteriovenous malformation of cerebral vessels
0.000 0.995 0.005
Q39 Congenital malformations of oesophagus
0.000 0.995 0.005
Q10 Congenital malformations of eyelid, lachrymal apparatus and orbit
0.000 0.995 0.005
G56.0 Carpal tunnel syndrome
0.000 0.995 0.005
Q14.1 Congenital malformation of retina
0.000 0.995 0.005
Q12 Congenital lens malformations
0.000 0.995 0.005
K86.1 Other chronic pancreatitis
0.000 0.995 0.005
Q15 Other congenital malformations of eye
0.000 0.995 0.005
D33 Benign neoplasm of brain and other parts of central nervous system
0.000 0.995 0.005
Q35 Cleft palate
0.000 0.995 0.005
Q13 Congenital malformations of anterior segment of eye
0.000 0.995 0.005
Q45 Other congenital malformations of digestive system
0.000 0.995 0.005
I08.0 Disorders of both mitral and aortic valves
0.000 0.995 0.005
Q18 Other congenital malformations of face and neck
0.000 0.995 0.005
Q16 Congenital malformations of ear causing impairment of hearing
0.000 0.995 0.004
Q11 Anophthalmos, microphthalmos and macrophthalmos
0.000 0.995 0.004
Q65-Q79 Congenital malformations and deformations of the musculoskeletal system
0.000 0.995 0.005
Q28.3 Other malformations of cerebral vessels
0.000 0.995 0.004
Q05 Spina bifida
0.000 0.995 0.005
Q17 Other congenital malformations of ear
0.000 0.995 0.004
Q37 Cleft palate with cleft lip
0.000 0.995 0.004
M10.9 Gout, unspecified
0.000 0.995 0.005
N30 Cystitis
0.000 0.995 0.005
Q43 Other congenital malformations of intestine
0.000 0.995 0.004
Q36 Cleft lip
0.000 0.995 0.004
Q96 Turner's syndrome
0.000 0.996 0.004
Q07 Other congenital malformations of nervous system
0.000 0.996 0.004
N30.0 Acute cystitis
0.000 0.996 0.004
Q98 Other sex chromosome abnormalities, male phenotype, not elsewhere classified
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
Q44 Congenital malformations of gallbladder, bile ducts and liver
0.000 0.996 0.004
Q01 Encephalocele
0.000 0.996 0.004
Q00 Anencephaly and similar malformations
0.000 0.996 0.004
Q02 Microcephaly
0.000 0.996 0.004
R06.5 Mouth breathing
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
O02.1 Missed abortion
0.004 0.996 0.000
Q39.6 Diverticulum of oesophagus
0.000 0.996 0.004
Q50-Q56 Congenital malformations of genital organs
0.000 0.996 0.004
Q30 Congenital malformations of nose
0.000 0.996 0.004
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
Q06 Other congenital malformations of spinal cord
0.000 0.996 0.004
Q03 Congenital hydrocephalus
0.000 0.996 0.004
Q21 Congenital malformations of cardiac septa
0.000 0.996 0.004
Q99 Other chromosome abnormalities, not elsewhere classified
0.000 0.996 0.004
Q76 Congenital malformations of spine and bony thorax
0.000 0.996 0.004
Q04 Other congenital malformations of brain
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
I08.9 Multiple valve disease, unspecified
0.000 0.996 0.004
Q31 Congenital malformations of larynx
0.000 0.996 0.004
S81.9 Open wound of lower leg, part unspecified
0.004 0.996 0.000
N30.3 Trigonitis
0.000 0.996 0.004
Q90 Down's syndrome
0.000 0.996 0.004
M10.94 Gout, unspecified (Hand)
0.000 0.996 0.004
I08.2 Disorders of both aortic and tricuspid valves
0.000 0.996 0.004
Q45.8 Other specified congenital malformations of digestive system
0.000 0.996 0.004
I08.8 Other multiple valve diseases
0.000 0.996 0.004
M10.97 Gout, unspecified (Ankle and foot)
0.000 0.996 0.004
D33.2 Brain, unspecified
0.000 0.996 0.004
Q35.9 Cleft palate, unspecified
0.000 0.996 0.004
D33.0 Brain, supratentorial
0.000 0.996 0.004
N30.2 Other chronic cystitis
0.000 0.996 0.004
Q39.9 Congenital malformation of oesophagus, unspecified
0.000 0.996 0.004
N77.1 Vaginitis, vulvitis and vulvovaginitis in infectious and parasitic diseases classified elsewhere
0.000 0.996 0.004
O42.0 Premature rupture of membranes, onset of labour within 24 hours
0.004 0.996 0.000
Q40 Other congenital malformations of upper alimentary tract
0.000 0.996 0.004
Q43.3 Congenital malformations of intestinal fixation
0.000 0.996 0.004
Q45.3 Other congenital malformations of pancreas and pancreatic duct
0.000 0.996 0.004
Q10.0 Congenital ptosis
0.000 0.996 0.004
G40 Epilepsy
0.000 0.996 0.004
Q12.0 Congenital cataract
0.000 0.996 0.004
Q76.0 Spina bifida occulta
0.000 0.996 0.004
M10.96 Gout, unspecified (Lower leg)
0.000 0.996 0.004
I42.9 Cardiomyopathy, unspecified
0.004 0.996 0.000
K80.0 Calculus of gallbladder with acute cholecystitis
0.004 0.996 0.000
Q39.8 Other congenital malformations of oesophagus
0.000 0.996 0.004
Q39.5 Congenital dilatation of oesophagus
0.000 0.996 0.004
Q39.3 Congenital stenosis and stricture of oesophagus
0.000 0.996 0.004
Q39.2 Congenital tracheooesophageal fistula without atresia
0.000 0.996 0.004
Q39.1 Atresia of oesophagus with tracheooesophageal fistula
0.000 0.996 0.004
Q39.0 Atresia of oesophagus without fistula
0.000 0.996 0.004
Q80-Q89 Other congenital malformations
0.000 0.996 0.004
Q10.7 Congenital malformation of orbit
0.000 0.996 0.003
Q10.6 Other congenital malformations of lachrymal apparatus
0.000 0.996 0.003
Q10.5 Congenital stenosis and stricture of lachrymal duct
0.000 0.996 0.003
Q10.4 Absence and agenesis of lachrymal apparatus
0.000 0.996 0.003
Q10.3 Other congenital malformations of eyelid
0.000 0.996 0.003
Q10.2 Congenital entropion
0.000 0.996 0.003
Q10.1 Congenital ectropion
0.000 0.996 0.003
Q12.9 Congenital lens malformation, unspecified
0.000 0.996 0.003
Q12.8 Other congenital lens malformations
0.000 0.996 0.003
Q12.4 Spherophakia
0.000 0.996 0.003
Q12.3 Congenital aphakia
0.000 0.996 0.003
Q12.2 Coloboma of lens
0.000 0.996 0.003
Q12.1 Congenital displaced lens
0.000 0.996 0.003
Q15.0 Congenital glaucoma
0.000 0.996 0.003
Q05.9 Spina bifida, unspecified
0.000 0.996 0.004
Q18.0 Sinus, fistula and cyst of branchial cleft
0.000 0.996 0.004
D33.9 Central nervous system, unspecified
0.000 0.996 0.004
D33.7 Other specified parts of central nervous system
0.000 0.996 0.004
D33.1 Brain, infratentorial
0.000 0.996 0.004
Q05.4 Unspecified spina bifida with hydrocephalus
0.000 0.996 0.003
Q15.9 Congenital malformation of eye, unspecified
0.000 0.996 0.003
Q15.8 Other specified congenital malformations of eye
0.000 0.996 0.003
Q35.8 (Cleft palate, unspecified, bilateral)
0.000 0.996 0.003
Q35.7 Cleft uvula
0.000 0.996 0.003
Q35.6 Cleft palate, medial
0.000 0.996 0.003
Q35.5 Cleft hard palate with cleft soft palate
0.000 0.996 0.003
Q35.4 (Cleft hard palate with cleft soft palate, bilateral)
0.000 0.996 0.003
Q35.3 Cleft soft palate
0.000 0.996 0.003
Q35.2 (Cleft soft palate, bilateral)
0.000 0.996 0.003
Q35.1 Cleft hard palate
0.000 0.996 0.003
Q35.0 (Cleft hard palate, bilateral)
0.000 0.996 0.003
I08.1 Disorders of both mitral and tricuspid valves
0.000 0.996 0.004
Q07.8 Other specified congenital malformations of nervous system
0.000 0.996 0.003
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
Q13.3 Congenital corneal opacity
0.000 0.996 0.003
Q13.2 Other congenital malformations of iris
0.000 0.996 0.003
Q13.1 Absence of iris
0.000 0.996 0.003
Q13.0 Coloboma of iris
0.000 0.996 0.003
Q45.2 Congenital pancreatic cyst
0.000 0.996 0.003
Q45.1 Annular pancreas
0.000 0.996 0.003
Q45.0 Agenesis, aplasia and hypoplasia of pancreas
0.000 0.996 0.003
Q05.7 Lumbar spina bifida without hydrocephalus
0.000 0.996 0.003
Q96.9 Turner's syndrome, unspecified
0.000 0.996 0.003
Q18.9 Congenital malformation of face and neck, unspecified
0.000 0.996 0.003
Q18.8 Other specified congenital malformations of face and neck
0.000 0.996 0.003
Q18.7 Microcheilia
0.000 0.996 0.003
Q18.6 Macrocheilia
0.000 0.996 0.003
Q18.5 Microstomia
0.000 0.996 0.003
Q18.4 Macrostomia
0.000 0.996 0.003
Q18.3 Webbing of neck
0.000 0.996 0.003
Q18.2 Other branchial cleft malformations
0.000 0.996 0.003
Q78 Other osteochondrodysplasias
0.000 0.996 0.003
Q37.9 Unspecified cleft palate with unilateral cleft lip
0.000 0.996 0.003
Q44.7 Other congenital malformations of liver
0.000 0.996 0.003
Q44.6 Cystic disease of liver
0.000 0.996 0.003
Q38 Other congenital malformations of tongue, mouth and pharynx
0.000 0.996 0.003
Q11.3 Macrophthalmos
0.000 0.996 0.003
Q11.2 Microphthalmos
0.000 0.996 0.003
Q11.0 Cystic eyeball
0.000 0.996 0.003
Q16.5 Congenital malformation of inner ear
0.000 0.996 0.003
Q16.4 Other congenital malformations of middle ear
0.000 0.996 0.003
Q16.3 Congenital malformation of ear ossicles
0.000 0.996 0.003
Q16.2 Absence of eustachian tube
0.000 0.996 0.003
Q16.1 Congenital absence, atresia and stricture of auditory canal (external)
0.000 0.996 0.003
Q16.0 Congenital absence of (ear) auricle
0.000 0.996 0.003
Q43.9 Congenital malformation of intestine, unspecified
0.000 0.996 0.003
Q43.0 Meckel's diverticulum
0.000 0.996 0.003
Q45.9 Congenital malformation of digestive system, unspecified
0.000 0.996 0.003
Q73 Reduction defects of unspecified limb
0.000 0.996 0.003
Q72 Reduction defects of lower limb
0.000 0.996 0.003
Q71 Reduction defects of upper limb
0.000 0.996 0.003
Q69 Polydactyly
0.000 0.996 0.003
M10.92 Gout, unspecified (Upper arm)
0.000 0.996 0.003
Q05.8 Sacral spina bifida without hydrocephalus
0.000 0.996 0.003
Q05.6 Thoracic spina bifida without hydrocephalus
0.000 0.996 0.003
Q05.5 Cervical spina bifida without hydrocephalus
0.000 0.996 0.003
Q05.3 Sacral spina bifida with hydrocephalus
0.000 0.996 0.003
Q05.2 Lumbar spina bifida with hydrocephalus
0.000 0.996 0.003
Q05.1 Thoracic spina bifida with hydrocephalus
0.000 0.996 0.003
Q05.0 Cervical spina bifida with hydrocephalus
0.000 0.996 0.003
Q17.9 Congenital malformation of ear, unspecified
0.000 0.996 0.003
Q17.8 Other specified congenital malformations of ear
0.000 0.996 0.003
Q17.4 Misplaced ear
0.000 0.996 0.003
Q17.3 Other misshapen ear
0.000 0.996 0.003
Q17.2 Microtia
0.000 0.996 0.003
Q17.1 Macrotia
0.000 0.996 0.003
Q17.0 Accessory auricle
0.000 0.996 0.003
Q39.4 Oesophageal web
0.000 0.996 0.003
Q74 Other congenital malformations of limb(s)
0.000 0.996 0.003
Q68 Other congenital musculoskeletal deformities
0.000 0.996 0.003
Q37.8 Unspecified cleft palate with bilateral cleft lip
0.000 0.996 0.003
Q37.5 Cleft hard and soft palate with unilateral cleft lip
0.000 0.996 0.003
Q37.4 Cleft hard and soft palate with bilateral cleft lip
0.000 0.996 0.003
Q37.3 Cleft soft palate with unilateral cleft lip
0.000 0.996 0.003
Q37.2 Cleft soft palate with bilateral cleft lip
0.000 0.996 0.003
Q37.1 Cleft hard palate with unilateral cleft lip
0.000 0.996 0.003
Q37.0 Cleft hard palate with bilateral cleft lip
0.000 0.996 0.003
Q98.4 Klinefelter's syndrome, unspecified
0.000 0.996 0.003
M10.98 Gout, unspecified (Other)
0.000 0.996 0.003
M10.95 Gout, unspecified (Pelvic region and thigh)
0.000 0.996 0.003
M10.93 Gout, unspecified (Forearm)
0.000 0.996 0.003
M10.91 Gout, unspecified (Shoulder region)
0.000 0.996 0.003
Q16.9 Congenital malformation of ear causing impairment of hearing, unspecified
0.000 0.996 0.003
Q43.7 Persistent cloaca
0.000 0.996 0.003
Q43.6 Congenital fistula of rectum and anus
0.000 0.996 0.003
Q43.5 Ectopic anus
0.000 0.996 0.003
Q43.4 Duplication of intestine
0.000 0.996 0.003
Q43.2 Other congenital functional disorders of colon
0.000 0.996 0.003
Q76.1 Klippel-Feil syndrome
0.000 0.996 0.003
Q66 Congenital deformities of feet
0.000 0.996 0.003
Q11.1 Other anophthalmos
0.000 0.996 0.003
Q36.9 Cleft lip, unilateral
0.000 0.996 0.003
Q36.1 Cleft lip, medial
0.000 0.996 0.003
Q36.0 Cleft lip, bilateral
0.000 0.996 0.003
Q43.1 Hirschsprung's disease
0.000 0.996 0.003
Q18.1 Preauricular sinus and cyst
0.000 0.997 0.003
Q76.5 Cervical rib
0.000 0.997 0.003
Q96.8 Other variants of Turner's syndrome
0.000 0.997 0.003
Q96.4 Mosaicism, 45,X/other cell line(s) with abnormal sex chromosome
0.000 0.997 0.003
Q96.3 Mosaicism, 45,X/46,XX or XY
0.000 0.997 0.003
Q96.2 Karyotype 46,X with abnormal sex chromosome, except iso (Xq)
0.000 0.997 0.003
Q96.1 Karyotype 46,X iso (Xq)
0.000 0.997 0.003
Q96.0 Karyotype 45,X
0.000 0.997 0.003
Q67 Congenital musculoskeletal deformities of head, face, spine and chest
0.000 0.997 0.003
Q07.9 Congenital malformation of nervous system, unspecified
0.000 0.997 0.003
L03.2 Cellulitis of face
0.000 0.997 0.003
Q17.5 Prominent ear
0.000 0.997 0.003
Q75 Other congenital malformations of skull and face bones
0.000 0.997 0.003
Q30.9 Congenital malformation of nose, unspecified
0.000 0.997 0.003
Q98.9 Sex chromosome abnormality, male phenotype, unspecified
0.000 0.997 0.003
Q98.8 Other specified sex chromosome abnormalities, male phenotype
0.000 0.997 0.003
Q98.7 Male with sex chromosome mosaicism
0.000 0.997 0.003
Q98.6 Male with structurally abnormal sex chromosome
0.000 0.997 0.003
Q98.5 Karyotype 47,XYY
0.000 0.997 0.003
Q98.3 Other male with 46,XX karyotype
0.000 0.997 0.003
Q98.2 Klinefelter's syndrome, male with 46,XX karyotype
0.000 0.997 0.003
Q98.1 Klinefelter's syndrome, male with more than two X chromosomes
0.000 0.997 0.003
Q98.0 Klinefelter's syndrome karyotype 47,XXY
0.000 0.997 0.003
Q77 Osteochondrodysplasia with defects of growth of tubular bones and spine
0.000 0.997 0.003
Q21.0 Ventricular septal defect
0.000 0.997 0.003
Q41.9 Congenital absence, atresia and stenosis of small intestine, part unspecified
0.000 0.997 0.003
Q41.8 Congenital absence, atresia and stenosis of other specified parts of small intestine
0.000 0.997 0.003
Q41.2 Congenital absence, atresia and stenosis of ileum
0.000 0.997 0.003
Q41.1 Congenital absence, atresia and stenosis of jejunum
0.000 0.997 0.003
Q41.0 Congenital absence, atresia and stenosis of duodenum
0.000 0.997 0.003
Q42.9 Congenital absence, atresia and stenosis of large intestine, part unspecified
0.000 0.997 0.003
Q42.8 Congenital absence, atresia and stenosis of other parts of large intestine
0.000 0.997 0.003
Q42.3 Congenital absence, atresia and stenosis of anus without fistula
0.000 0.997 0.003
Q42.2 Congenital absence, atresia and stenosis of anus with fistula
0.000 0.997 0.003
Q42.1 Congenital absence, atresia and stenosis of rectum without fistula
0.000 0.997 0.003
Q42.0 Congenital absence, atresia and stenosis of rectum with fistula
0.000 0.997 0.003
Q44.3 Congenital stenosis and stricture of bile ducts
0.000 0.997 0.003
Q44.2 Atresia of bile ducts
0.000 0.997 0.003
Q44.1 Other congenital malformations of gallbladder
0.000 0.997 0.003
Q44.0 Agenesis, aplasia and hypoplasia of gallbladder
0.000 0.997 0.003
Q70 Syndactyly
0.000 0.997 0.003
Q07.0 Arnold-Chiari syndrome
0.000 0.997 0.003
Q00.2 Iniencephaly
0.000 0.997 0.003
Q00.1 Craniorachischisis
0.000 0.997 0.003
Q00.0 Anencephaly
0.000 0.997 0.003
Q01.9 Encephalocele, unspecified
0.000 0.997 0.003
Q01.8 Encephalocele of other sites
0.000 0.997 0.003
Q01.2 Occipital encephalocele
0.000 0.997 0.003
Q01.1 Nasofrontal encephalocele
0.000 0.997 0.003
Q01.0 Frontal encephalocele
0.000 0.997 0.003
M19.01 Primary arthrosis of other joints (Shoulder region)
0.003 0.997 0.000
D33.4 Spinal cord
0.000 0.997 0.003
Q91.7 Patau's syndrome, unspecified
0.000 0.997 0.003
Q91.6 Trisomy 13, translocation
0.000 0.997 0.003
Q91.5 Trisomy 13, mosaicism (mitotic nondisjunction)
0.000 0.997 0.003
Q91.4 Trisomy 13, meiotic nondisjunction
0.000 0.997 0.003
Q91.3 Edwards' syndrome, unspecified
0.000 0.997 0.003
Q91.2 Trisomy 18, translocation
0.000 0.997 0.003
Q91.1 Trisomy 18, mosaicism (mitotic nondisjunction)
0.000 0.997 0.003
Q91.0 Trisomy 18, meiotic nondisjunction
0.000 0.997 0.003
Q92.9 Trisomy and partial trisomy of autosomes, unspecified
0.000 0.997 0.003
Q92.8 Other specified trisomies and partial trisomies of autosomes
0.000 0.997 0.003
Q92.7 Triploidy and polyploidy
0.000 0.997 0.003
Q92.6 Extra marker chromosomes
0.000 0.997 0.003
Q92.5 Duplications with other complex rearrangements
0.000 0.997 0.003
Q92.4 Duplications seen only at prometaphase
0.000 0.997 0.003
Q92.3 Minor partial trisomy
0.000 0.997 0.003
Q92.2 Major partial trisomy
0.000 0.997 0.003
Q92.1 Whole chromosome trisomy, mosaicism (mitotic nondisjunction)
0.000 0.997 0.003
Q92.0 Whole chromosome trisomy, meiotic nondisjunction
0.000 0.997 0.003
Q93.9 Deletion from autosomes, unspecified
0.000 0.997 0.003
Q93.8 Other deletions from the autosomes
0.000 0.997 0.003
Q93.7 Deletions with other complex rearrangements
0.000 0.997 0.003
Q93.6 Deletions seen only at prometaphase
0.000 0.997 0.003
Q93.5 Other deletions of part of a chromosome
0.000 0.997 0.003
Q93.4 Deletion of short arm of chromosome 5
0.000 0.997 0.003
Q93.3 Deletion of short arm of chromosome 4
0.000 0.997 0.003
Q93.2 Chromosome replaced with ring or dicentric
0.000 0.997 0.003
Q93.1 Whole chromosome monosomy, mosaicism (mitotic nondisjunction)
0.000 0.997 0.003
Q93.0 Whole chromosome monosomy, meiotic nondisjunction
0.000 0.997 0.003
Q95.9 Balanced rearrangement and structural marker, unspecified
0.000 0.997 0.003
Q95.8 Other balanced rearrangements and structural markers
0.000 0.997 0.003
Q95.5 Individuals with autosomal fragile site
0.000 0.997 0.003
Q95.4 Individuals with marker heterochromatin
0.000 0.997 0.003
Q95.3 Balanced sex/autosomal rearrangement in abnormal individual
0.000 0.997 0.003
Q95.2 Balanced autosomal rearrangement in abnormal individual
0.000 0.997 0.003
Q95.1 Chromosome inversion in normal individual
0.000 0.997 0.003
Q95.0 Balanced translocation and insertion in normal individual
0.000 0.997 0.003
Q97.9 Sex chromosome abnormality, female phenotype, unspecified
0.000 0.997 0.003
Q97.8 Other specified sex chromosome abnormalities, female phenotype
0.000 0.997 0.003
Q97.3 Female with 46,XY karyotype
0.000 0.997 0.003
Q97.2 Mosaicism, lines with various numbers of X chromosomes
0.000 0.997 0.003
Q97.1 Female with more than three X chromosomes
0.000 0.997 0.003
Q97.0 Karyotype 47,XXX
0.000 0.997 0.003
Q56 Indeterminate sex and pseudohermaphroditism
0.000 0.997 0.003
M46.99 Inflammatory spondylopathy, unspecified (Site unspecified)
0.000 0.997 0.003
Q30.8 Other congenital malformations of nose
0.000 0.997 0.003
Q30.2 Fissured, notched and cleft nose
0.000 0.997 0.003
Q30.1 Agenesis and underdevelopment of nose
0.000 0.997 0.003
Q30.0 Choanal atresia
0.000 0.997 0.003
C45.0 Mesothelioma of pleura
0.000 0.997 0.003
Q32.4 Other congenital malformations of bronchus
0.000 0.997 0.003
Q32.3 Congenital stenosis of bronchus
0.000 0.997 0.003
Q32.2 Congenital bronchomalacia
0.000 0.997 0.003
Q32.1 Other congenital malformations of trachea
0.000 0.997 0.003
Q32.0 Congenital tracheomalacia
0.000 0.997 0.003
Q33.9 Congenital malformation of lung, unspecified
0.000 0.997 0.003
Q33.8 Other congenital malformations of lung
0.000 0.997 0.003
Q33.6 Hypoplasia and dysplasia of lung
0.000 0.997 0.003
Q33.5 Ectopic tissue in lung
0.000 0.997 0.003
Q33.4 Congenital bronchiectasis
0.000 0.997 0.003
Q33.3 Agenesis of lung
0.000 0.997 0.003
Q33.2 Sequestration of lung
0.000 0.997 0.003
Q33.1 Accessory lobe of lung
0.000 0.997 0.003
Q33.0 Congenital cystic lung
0.000 0.997 0.003
Q34.9 Congenital malformation of respiratory system, unspecified
0.000 0.997 0.003
Q34.8 Other specified congenital malformations of respiratory system
0.000 0.997 0.003
Q34.1 Congenital cyst of mediastinum
0.000 0.997 0.003
Q34.0 Anomaly of pleura
0.000 0.997 0.003
Q03.9 Congenital hydrocephalus, unspecified
0.000 0.997 0.003
Q03.8 Other congenital hydrocephalus
0.000 0.997 0.003
Q03.1 Atresia of foramina of Magendie and Luschka
0.000 0.997 0.003
Q06.9 Congenital malformation of spinal cord, unspecified
0.000 0.997 0.003
Q06.4 Hydromyelia
0.000 0.997 0.003
Q06.3 Other congenital cauda equina malformations
0.000 0.997 0.003
Q06.1 Hypoplasia and dysplasia of spinal cord
0.000 0.997 0.003
Q06.0 Amyelia
0.000 0.997 0.003
Q21.4 Aortopulmonary septal defect
0.000 0.997 0.003
Q21.2 Atrioventricular septal defect
0.000 0.997 0.003
Q76.9 Congenital malformation of bony thorax, unspecified
0.000 0.997 0.003
Q76.8 Other congenital malformations of bony thorax
0.000 0.997 0.003
Q76.7 Congenital malformation of sternum
0.000 0.997 0.003
Q76.6 Other congenital malformations of ribs
0.000 0.997 0.003
Q76.3 Congenital scoliosis due to congenital bony malformation
0.000 0.997 0.003
Q76.2 Congenital spondylolisthesis
0.000 0.997 0.003
Q99.9 Chromosomal abnormality, unspecified
0.000 0.997 0.003
Q99.2 Fragile X chromosome
0.000 0.997 0.003
Q99.1 46,XX true hermaphrodite
0.000 0.997 0.003
Q99.0 Chimera 46,XX/46,XY
0.000 0.997 0.003
M10.90 Gout, unspecified (Multiple sites)
0.000 0.997 0.003
Q04.9 Congenital malformation of brain, unspecified
0.000 0.997 0.003
Q04.5 Megalencephaly
0.000 0.997 0.003
Q04.4 Septo-optic dysplasia
0.000 0.997 0.003
Q04.3 Other reduction deformities of brain
0.000 0.997 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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