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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

rs270545
log Bayes Factor = <0.0001
Chromosome 5   position 38,051,593  (GRCh37) Explore rs270545 on Ensembl!
Variant rs270545 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
  
Q21.1 Atrial septal defect
0.018 0.982 0.000
Q21.0 Ventricular septal defect
0.018 0.982 0.000
Q21 Congenital malformations of cardiac septa
0.018 0.982 0.000
Q21.3 Tetralogy of Fallot
0.013 0.987 0.000
Q20-Q28 Congenital malformations of the circulatory system
0.013 0.987 0.000
Q21.8 Other congenital malformations of cardiac septa
0.013 0.987 0.000
Q21.4 Aortopulmonary septal defect
0.013 0.987 0.000
Q21.2 Atrioventricular septal defect
0.013 0.987 0.000
M41.96 Scoliosis, unspecified (Lumbar region)
0.000 0.987 0.013
K86.2 Cyst of pancreas
0.000 0.987 0.013
K86 Other diseases of pancreas
0.000 0.987 0.013
Q23 Congenital malformations of aortic and mitral valves
0.012 0.988 0.000
K86.0 Alcohol-induced chronic pancreatitis
0.000 0.988 0.012
Q21.9 Congenital malformation of cardiac septum, unspecified
0.012 0.988 0.000
K86.8 Other specified diseases of pancreas
0.000 0.989 0.011
M41.9 Scoliosis, unspecified
0.000 0.989 0.011
K86.3 Pseudocyst of pancreas
0.000 0.989 0.011
Q25 Congenital malformations of great arteries
0.011 0.989 0.000
Q23.0 Congenital stenosis of aortic valve
0.011 0.989 0.000
K86.9 Disease of pancreas, unspecified
0.000 0.990 0.010
R29.8 Other and unspecified symptoms and signs involving the nervous and musculoskeletal systems
0.000 0.990 0.010
M41.95 Scoliosis, unspecified (Thoracolumbar region)
0.000 0.990 0.010
K86.1 Other chronic pancreatitis
0.000 0.990 0.010
M41.97 Scoliosis, unspecified (Lumbosacral region)
0.000 0.990 0.010
Q23.1 Congenital insufficiency of aortic valve
0.010 0.990 0.000
M41.99 Scoliosis, unspecified (Site unspecified)
0.000 0.990 0.010
Q26 Congenital malformations of great veins
0.010 0.990 0.000
Q20 Congenital malformations of cardiac chambers and connexions
0.010 0.990 0.000
Q24 Other congenital malformations of heart
0.010 0.990 0.000
Q22 Congenital malformations of pulmonary and tricuspid valves
0.009 0.990 0.000
Chapter XVII Congenital malformations, deformations and chromosomal abnormalities
0.009 0.991 0.000
Q23.9 Congenital malformation of aortic and mitral valves, unspecified
0.009 0.991 0.000
Q23.8 Other congenital malformations of aortic and mitral valves
0.009 0.991 0.000
Q23.4 Hypoplastic left heart syndrome
0.009 0.991 0.000
Q23.3 Congenital mitral insufficiency
0.009 0.991 0.000
Q23.2 Congenital mitral stenosis
0.009 0.991 0.000
M46.96 Inflammatory spondylopathy, unspecified (Lumbar region)
0.000 0.991 0.009
Q25.1 Coarctation of aorta
0.009 0.991 0.000
M41.98 Scoliosis, unspecified (Sacral and sacrococcygeal region)
0.000 0.992 0.008
M41.93 Scoliosis, unspecified (Cervicothoracic region)
0.000 0.992 0.008
M41.92 Scoliosis, unspecified (Cervical region)
0.000 0.992 0.008
M41.91 Scoliosis, unspecified (Occipito-atlanto-axial region)
0.000 0.992 0.008
Q25.0 Patent ductus arteriosus
0.008 0.992 0.000
M41.90 Scoliosis, unspecified (Multiple sites in spine)
0.000 0.992 0.008
Q25.4 Other congenital malformations of aorta
0.008 0.992 0.000
Q25.9 Congenital malformation of great arteries, unspecified
0.008 0.992 0.000
Q25.8 Other congenital malformations of great arteries
0.008 0.992 0.000
Q25.7 Other congenital malformations of pulmonary artery
0.008 0.992 0.000
Q25.6 Stenosis of pulmonary artery
0.008 0.992 0.000
Q25.5 Atresia of pulmonary artery
0.008 0.992 0.000
Q25.3 Stenosis of aorta
0.008 0.992 0.000
Q25.2 Atresia of aorta
0.008 0.992 0.000
Q04 Other congenital malformations of brain
0.008 0.992 0.000
Q00-Q07 Congenital malformations of the nervous system
0.008 0.992 0.000
Q04.6 Congenital cerebral cysts
0.008 0.992 0.000
Q28 Other congenital malformations of circulatory system
0.008 0.992 0.000
M41.94 Scoliosis, unspecified (Thoracic region)
0.000 0.992 0.008
Q38-Q45 Other congenital malformations of the digestive system
0.008 0.992 0.000
Q90-Q99 Chromosomal abnormalities, not elsewhere classified
0.008 0.992 0.000
Q10-Q18 Congenital malformations of eye, ear, face and neck
0.007 0.992 0.000
D72.8 Other specified disorders of white blood cells
0.000 0.992 0.007
Q24.9 Congenital malformation of the heart, unspecified
0.007 0.993 0.000
Q60-Q64 Congenital malformations of the urinary system
0.007 0.993 0.000
Q24.6 Congenital heart block
0.007 0.993 0.000
Q20.9 Congenital malformation of cardiac chambers and connexions, unspecified
0.007 0.993 0.000
Q20.8 Other congenital malformations of cardiac chambers and connexions
0.007 0.993 0.000
Q20.6 Isomerism of atrial appendages
0.007 0.993 0.000
Q20.5 Discordant atrioventricular connexion
0.007 0.993 0.000
Q20.4 Double inlet ventricle
0.007 0.993 0.000
Q20.3 Discordant ventriculoarterial connexion
0.007 0.993 0.000
Q20.2 Double outlet left ventricle
0.007 0.993 0.000
Q20.1 Double outlet right ventricle
0.007 0.993 0.000
Q20.0 Common arterial trunk
0.007 0.993 0.000
Q26.9 Congenital malformation of great vein, unspecified
0.007 0.993 0.000
Q26.8 Other congenital malformations of great veins
0.007 0.993 0.000
Q26.6 Portal vein-hepatic artery fistula
0.007 0.993 0.000
Q26.5 Anomalous portal venous connexion
0.007 0.993 0.000
Q26.4 Anomalous pulmonary venous connexion, unspecified
0.007 0.993 0.000
Q26.3 Partial anomalous pulmonary venous connexion
0.007 0.993 0.000
Q26.2 Total anomalous pulmonary venous connexion
0.007 0.993 0.000
Q26.1 Persistent left superior vena cava
0.007 0.993 0.000
Q26.0 Congenital stenosis of vena cava
0.007 0.993 0.000
Q39 Congenital malformations of oesophagus
0.007 0.993 0.000
Q27 Other congenital malformations of peripheral vascular system
0.007 0.993 0.000
Q96 Turner's syndrome
0.007 0.993 0.000
Q24.4 Congenital subaortic stenosis
0.007 0.993 0.000
Q24.3 Pulmonary infundibular stenosis
0.007 0.993 0.000
Q24.2 Cor triatriatum
0.007 0.993 0.000
Q24.1 Levocardia
0.007 0.993 0.000
Q24.0 Dextrocardia
0.007 0.993 0.000
Q22.9 Congenital malformation of tricuspid valve, unspecified
0.007 0.993 0.000
Q22.8 Other congenital malformations of tricuspid valve
0.007 0.993 0.000
Q22.6 Hypoplastic right heart syndrome
0.007 0.993 0.000
Q22.5 Ebstein's anomaly
0.007 0.993 0.000
Q22.4 Congenital tricuspid stenosis
0.007 0.993 0.000
Q22.3 Other congenital malformations of pulmonary valve
0.007 0.993 0.000
Q22.2 Congenital pulmonary valve insufficiency
0.007 0.993 0.000
Q22.0 Pulmonary valve atresia
0.007 0.993 0.000
Q35-Q37 Cleft lip and cleft palate
0.007 0.993 0.000
Q30-Q34 Congenital malformations of the respiratory system
0.007 0.993 0.000
C25.9 Pancreas, unspecified
0.000 0.993 0.007
Q22.1 Congenital pulmonary valve stenosis
0.007 0.993 0.000
I34.0 Mitral (valve) insufficiency
0.000 0.993 0.007
Q24.8 Other specified congenital malformations of heart
0.007 0.993 0.000
Q96.9 Turner's syndrome, unspecified
0.007 0.993 0.000
Q12 Congenital lens malformations
0.007 0.993 0.000
Q64 Other congenital malformations of urinary system
0.007 0.993 0.000
C25.0 Head of pancreas
0.000 0.993 0.007
Q24.5 Malformation of coronary vessels
0.007 0.993 0.000
C25 Malignant neoplasm of pancreas
0.000 0.993 0.007
Q04.8 Other specified congenital malformations of brain
0.007 0.993 0.000
Q45 Other congenital malformations of digestive system
0.006 0.993 0.000
F60 Specific personality disorders
0.007 0.993 0.000
Q62 Congenital obstructive defects of renal pelvis and congenital malformations of ureter
0.006 0.993 0.000
Q12.0 Congenital cataract
0.006 0.994 0.000
Q40 Other congenital malformations of upper alimentary tract
0.006 0.994 0.000
C25.2 Tail of pancreas
0.000 0.994 0.006
F60.9 Personality disorder, unspecified
0.006 0.994 0.000
Q39.6 Diverticulum of oesophagus
0.006 0.994 0.000
I34.1 Mitral (valve) prolapse
0.000 0.994 0.006
Q06 Other congenital malformations of spinal cord
0.006 0.994 0.000
Q64.3 Other atresia and stenosis of urethra and bladder neck
0.006 0.994 0.000
F60.3 Emotionally unstable personality disorder
0.006 0.994 0.000
W13.9 Unspecified place
0.000 0.994 0.006
Q28.0 Arteriovenous malformation of precerebral vessels
0.006 0.994 0.000
Q39.4 Oesophageal web
0.006 0.994 0.000
Q04.9 Congenital malformation of brain, unspecified
0.006 0.994 0.000
Q04.5 Megalencephaly
0.006 0.994 0.000
Q04.4 Septo-optic dysplasia
0.006 0.994 0.000
Q04.3 Other reduction deformities of brain
0.006 0.994 0.000
Q04.2 Holoprosencephaly
0.006 0.994 0.000
Q04.1 Arhinencephaly
0.006 0.994 0.000
Q04.0 Congenital malformations of corpus callosum
0.006 0.994 0.000
Q01 Encephalocele
0.006 0.994 0.000
Q00 Anencephaly and similar malformations
0.006 0.994 0.000
Q02 Microcephaly
0.006 0.994 0.000
S02.80 Fractures of other skull and facial bones (closed)
0.006 0.994 0.000
Q62.5 Duplication of ureter
0.006 0.994 0.000
Q28.9 Congenital malformation of circulatory system, unspecified
0.006 0.994 0.000
Q28.8 Other specified congenital malformations of circulatory system
0.006 0.994 0.000
Q28.3 Other malformations of cerebral vessels
0.006 0.994 0.000
Q28.1 Other malformations of precerebral vessels
0.006 0.994 0.000
Q03 Congenital hydrocephalus
0.006 0.994 0.000
M46.9 Inflammatory spondylopathy, unspecified
0.000 0.994 0.006
Q42 Congenital absence, atresia and stenosis of large intestine
0.006 0.994 0.000
Q41 Congenital absence, atresia and stenosis of small intestine
0.006 0.994 0.000
Q90 Down's syndrome
0.006 0.994 0.000
Q99 Other chromosome abnormalities, not elsewhere classified
0.006 0.994 0.000
Q97 Other sex chromosome abnormalities, female phenotype, not elsewhere classified
0.006 0.994 0.000
Q95 Balanced rearrangements and structural markers, not elsewhere classified
0.006 0.994 0.000
Q93 Monosomies and deletions from the autosomes, not elsewhere classified
0.006 0.994 0.000
Q92 Other trisomies and partial trisomies of the autosomes, not elsewhere classified
0.006 0.994 0.000
Q91 Edwards' syndrome and Patau's syndrome
0.006 0.994 0.000
Q50-Q56 Congenital malformations of genital organs
0.006 0.994 0.000
K09.0 Developmental odontogenic cysts
0.006 0.994 0.000
Q10 Congenital malformations of eyelid, lachrymal apparatus and orbit
0.006 0.994 0.000
Q15 Other congenital malformations of eye
0.006 0.994 0.000
O13 Gestational [pregnancy-induced] hypertension without significant proteinuria
0.006 0.994 0.000
Q16 Congenital malformations of ear causing impairment of hearing
0.005 0.994 0.000
Q13 Congenital malformations of anterior segment of eye
0.005 0.994 0.000
Q14 Congenital malformations of posterior segment of eye
0.005 0.994 0.000
Q18 Other congenital malformations of face and neck
0.005 0.994 0.000
Q11 Anophthalmos, microphthalmos and macrophthalmos
0.005 0.994 0.000
C25.1 Body of pancreas
0.000 0.994 0.006
M46.99 Inflammatory spondylopathy, unspecified (Site unspecified)
0.000 0.994 0.006
Q45.3 Other congenital malformations of pancreas and pancreatic duct
0.005 0.994 0.000
Q31 Congenital malformations of larynx
0.005 0.994 0.000
Q37 Cleft palate with cleft lip
0.005 0.994 0.000
Q44 Congenital malformations of gallbladder, bile ducts and liver
0.005 0.994 0.000
Q07 Other congenital malformations of nervous system
0.005 0.994 0.000
Q54 Hypospadias
0.005 0.994 0.000
J13 Pneumonia due to Streptococcus pneumoniae
0.000 0.995 0.005
Q61 Cystic kidney disease
0.005 0.995 0.000
C25.7 Other parts of pancreas
0.000 0.995 0.005
Q27.4 Congenital phlebectasia
0.005 0.995 0.000
Q27.2 Other congenital malformations of renal artery
0.005 0.995 0.000
Q27.1 Congenital renal artery stenosis
0.005 0.995 0.000
Q27.0 Congenital absence and hypoplasia of umbilical artery
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
Q96.8 Other variants of Turner's syndrome
0.005 0.995 0.000
Q96.4 Mosaicism, 45,X/other cell line(s) with abnormal sex chromosome
0.005 0.995 0.000
Q96.3 Mosaicism, 45,X/46,XX or XY
0.005 0.995 0.000
Q96.2 Karyotype 46,X with abnormal sex chromosome, except iso (Xq)
0.005 0.995 0.000
Q96.1 Karyotype 46,X iso (Xq)
0.005 0.995 0.000
Q96.0 Karyotype 45,X
0.005 0.995 0.000
Q64.7 Other congenital malformations of bladder and urethra
0.005 0.995 0.000
I34 Nonrheumatic mitral valve disorders
0.000 0.995 0.005
Q43 Other congenital malformations of intestine
0.005 0.995 0.000
F60.7 Dependent personality disorder
0.005 0.995 0.000
Q40.8 Other specified congenital malformations of upper alimentary tract
0.005 0.995 0.000
F60.5 Anankastic personality disorder
0.005 0.995 0.000
F20.0 Paranoid schizophrenia
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
Q30 Congenital malformations of nose
0.005 0.995 0.000
Q36 Cleft lip
0.005 0.995 0.000
Q35 Cleft palate
0.005 0.995 0.000
Q27.9 Congenital malformation of peripheral vascular system, unspecified
0.005 0.995 0.000
Q98 Other sex chromosome abnormalities, male phenotype, not elsewhere classified
0.005 0.995 0.000
F60.6 Anxious [avoidant] personality disorder
0.005 0.995 0.000
Q12.9 Congenital lens malformation, unspecified
0.005 0.995 0.000
Q12.8 Other congenital lens malformations
0.005 0.995 0.000
Q12.4 Spherophakia
0.005 0.995 0.000
Q12.3 Congenital aphakia
0.005 0.995 0.000
Q12.2 Coloboma of lens
0.005 0.995 0.000
Q12.1 Congenital displaced lens
0.005 0.995 0.000
Q45.8 Other specified congenital malformations of digestive system
0.005 0.995 0.000
F60.8 Other specific personality disorders
0.005 0.995 0.000
Q64.9 Congenital malformation of urinary system, unspecified
0.005 0.995 0.000
Q64.8 Other specified congenital malformations of urinary system
0.005 0.995 0.000
Q64.6 Congenital diverticulum of bladder
0.005 0.995 0.000
Q64.5 Congenital absence of bladder and urethra
0.005 0.995 0.000
Q64.4 Malformation of urachus
0.005 0.995 0.000
Q64.2 Congenital posterior urethral valves
0.005 0.995 0.000
Q64.1 Exstrophy of urinary bladder
0.005 0.995 0.000
Q64.0 Epispadias
0.005 0.995 0.000
D32.0 Cerebral meninges
0.000 0.995 0.005
Q17 Other congenital malformations of ear
0.005 0.995 0.000
M46.90 Inflammatory spondylopathy, unspecified (Multiple sites in spine)
0.000 0.995 0.005
Q54.0 Hypospadias, balanic
0.005 0.995 0.000
M41 Scoliosis
0.000 0.995 0.005
C25.8 Overlapping lesion of pancreas
0.000 0.995 0.005
C25.4 Endocrine pancreas
0.000 0.995 0.005
Q27.8 Other specified congenital malformations of peripheral vascular system
0.005 0.995 0.000
Q40.2 Other specified congenital malformations of stomach
0.005 0.995 0.000
Q06.8 Other specified congenital malformations of spinal cord
0.005 0.995 0.000
Q65-Q79 Congenital malformations and deformations of the musculoskeletal system
0.005 0.995 0.000
F60.4 Histrionic personality disorder
0.005 0.995 0.000
F60.2 Dissocial personality disorder
0.005 0.995 0.000
F60.1 Schizoid personality disorder
0.005 0.995 0.000
Q45.9 Congenital malformation of digestive system, unspecified
0.005 0.995 0.000
Q45.2 Congenital pancreatic cyst
0.005 0.995 0.000
Q45.1 Annular pancreas
0.005 0.995 0.000
Q45.0 Agenesis, aplasia and hypoplasia of pancreas
0.005 0.995 0.000
Q62.8 Other congenital malformations of ureter
0.005 0.995 0.000
Q62.7 Congenital vesico-uretero-renal reflux
0.005 0.995 0.000
Q62.6 Malposition of ureter
0.005 0.995 0.000
Q62.4 Agenesis of ureter
0.005 0.995 0.000
Q62.3 Other obstructive defects of renal pelvis and ureter
0.005 0.995 0.000
Q62.2 Congenital megaloureter
0.005 0.995 0.000
Q62.1 Atresia and stenosis of ureter
0.005 0.995 0.000
Q62.0 Congenital hydronephrosis
0.005 0.995 0.000
Q40.9 Congenital malformation of upper alimentary tract, unspecified
0.005 0.995 0.000
Q40.3 Congenital malformation of stomach, unspecified
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
F60.0 Paranoid personality disorder
0.005 0.995 0.000
F60-F69 Disorders of adult personality and behaviour
0.005 0.995 0.000
S02.8 Fractures of other skull and facial bones
0.005 0.995 0.000
Q06.9 Congenital malformation of spinal cord, unspecified
0.005 0.995 0.000
Q06.4 Hydromyelia
0.005 0.995 0.000
Q06.3 Other congenital cauda equina malformations
0.005 0.995 0.000
Q06.2 Diastematomyelia
0.005 0.995 0.000
Q06.1 Hypoplasia and dysplasia of spinal cord
0.005 0.995 0.000
Q06.0 Amyelia
0.005 0.995 0.000
Q18.0 Sinus, fistula and cyst of branchial cleft
0.005 0.995 0.000
Q80-Q89 Other congenital malformations
0.005 0.995 0.000
N42.8 Other specified disorders of prostate
0.005 0.995 0.000
Q43.9 Congenital malformation of intestine, unspecified
0.005 0.995 0.000
Q60 Renal agenesis and other reduction defects of kidney
0.004 0.995 0.000
Q00.2 Iniencephaly
0.004 0.995 0.000
Q00.1 Craniorachischisis
0.004 0.995 0.000
Q00.0 Anencephaly
0.004 0.995 0.000
Q01.9 Encephalocele, unspecified
0.004 0.995 0.000
Q01.8 Encephalocele of other sites
0.004 0.995 0.000
Q01.2 Occipital encephalocele
0.004 0.995 0.000
Q01.1 Nasofrontal encephalocele
0.004 0.995 0.000
Q01.0 Frontal encephalocele
0.004 0.995 0.000
C25.3 Pancreatic duct
0.000 0.995 0.004
I34.9 Nonrheumatic mitral valve disorder, unspecified
0.000 0.995 0.004
Q03.9 Congenital hydrocephalus, unspecified
0.004 0.995 0.000
Q03.8 Other congenital hydrocephalus
0.004 0.995 0.000
Q03.1 Atresia of foramina of Magendie and Luschka
0.004 0.995 0.000
Q63 Other congenital malformations of kidney
0.004 0.995 0.000
M46.98 Inflammatory spondylopathy, unspecified (Sacral and sacrococcygeal region)
0.000 0.995 0.004
M46.95 Inflammatory spondylopathy, unspecified (Thoracolumbar region)
0.000 0.995 0.004
M46.94 Inflammatory spondylopathy, unspecified (Thoracic region)
0.000 0.995 0.004
M46.93 Inflammatory spondylopathy, unspecified (Cervicothoracic region)
0.000 0.995 0.004
M46.91 Inflammatory spondylopathy, unspecified (Occipito-atlanto-axial region)
0.000 0.995 0.004
Q54.9 Hypospadias, unspecified
0.004 0.995 0.000
Q37.9 Unspecified cleft palate with unilateral cleft lip
0.004 0.995 0.000
Q31.0 Web of larynx
0.004 0.995 0.000
Q41.9 Congenital absence, atresia and stenosis of small intestine, part unspecified
0.004 0.995 0.000
Q41.8 Congenital absence, atresia and stenosis of other specified parts of small intestine
0.004 0.995 0.000
Q41.2 Congenital absence, atresia and stenosis of ileum
0.004 0.995 0.000
Q41.1 Congenital absence, atresia and stenosis of jejunum
0.004 0.995 0.000
Q41.0 Congenital absence, atresia and stenosis of duodenum
0.004 0.995 0.000
Q42.9 Congenital absence, atresia and stenosis of large intestine, part unspecified
0.004 0.995 0.000
Q42.8 Congenital absence, atresia and stenosis of other parts of large intestine
0.004 0.995 0.000
Q42.3 Congenital absence, atresia and stenosis of anus without fistula
0.004 0.995 0.000
Q42.2 Congenital absence, atresia and stenosis of anus with fistula
0.004 0.995 0.000
Q42.1 Congenital absence, atresia and stenosis of rectum without fistula
0.004 0.995 0.000
Q42.0 Congenital absence, atresia and stenosis of rectum with fistula
0.004 0.995 0.000
Q90.9 Down's syndrome, unspecified
0.004 0.995 0.000
Q65 Congenital deformities of hip
0.004 0.995 0.000
N81.4 Uterovaginal prolapse, unspecified
0.000 0.996 0.004
Q03.0 Malformations of aqueduct of Sylvius
0.004 0.996 0.000
Q61.0 Congenital single renal cyst
0.004 0.996 0.000
Q90.2 Trisomy 21, translocation
0.004 0.996 0.000
Q90.1 Trisomy 21, mosaicism (mitotic nondisjunction)
0.004 0.996 0.000
Q90.0 Trisomy 21, meiotic nondisjunction
0.004 0.996 0.000
Q05 Spina bifida
0.004 0.996 0.000
Q91.7 Patau's syndrome, unspecified
0.004 0.996 0.000
Q91.6 Trisomy 13, translocation
0.004 0.996 0.000
Q91.5 Trisomy 13, mosaicism (mitotic nondisjunction)
0.004 0.996 0.000
Q91.4 Trisomy 13, meiotic nondisjunction
0.004 0.996 0.000
Q91.3 Edwards' syndrome, unspecified
0.004 0.996 0.000
Q91.2 Trisomy 18, translocation
0.004 0.996 0.000
Q91.1 Trisomy 18, mosaicism (mitotic nondisjunction)
0.004 0.996 0.000
Q91.0 Trisomy 18, meiotic nondisjunction
0.004 0.996 0.000
Q92.9 Trisomy and partial trisomy of autosomes, unspecified
0.004 0.996 0.000
Q92.8 Other specified trisomies and partial trisomies of autosomes
0.004 0.996 0.000
Q92.7 Triploidy and polyploidy
0.004 0.996 0.000
Q92.6 Extra marker chromosomes
0.004 0.996 0.000
Q92.5 Duplications with other complex rearrangements
0.004 0.996 0.000
Q92.4 Duplications seen only at prometaphase
0.004 0.996 0.000
Q92.3 Minor partial trisomy
0.004 0.996 0.000
Q92.2 Major partial trisomy
0.004 0.996 0.000
Q92.1 Whole chromosome trisomy, mosaicism (mitotic nondisjunction)
0.004 0.996 0.000
Q92.0 Whole chromosome trisomy, meiotic nondisjunction
0.004 0.996 0.000
Q93.9 Deletion from autosomes, unspecified
0.004 0.996 0.000
Q93.8 Other deletions from the autosomes
0.004 0.996 0.000
Q93.7 Deletions with other complex rearrangements
0.004 0.996 0.000
Q93.6 Deletions seen only at prometaphase
0.004 0.996 0.000
Q93.5 Other deletions of part of a chromosome
0.004 0.996 0.000
Q93.4 Deletion of short arm of chromosome 5
0.004 0.996 0.000
Q93.3 Deletion of short arm of chromosome 4
0.004 0.996 0.000
Q93.2 Chromosome replaced with ring or dicentric
0.004 0.996 0.000
Q93.1 Whole chromosome monosomy, mosaicism (mitotic nondisjunction)
0.004 0.996 0.000
Q93.0 Whole chromosome monosomy, meiotic nondisjunction
0.004 0.996 0.000
Q95.9 Balanced rearrangement and structural marker, unspecified
0.004 0.996 0.000
Q95.8 Other balanced rearrangements and structural markers
0.004 0.996 0.000
Q95.5 Individuals with autosomal fragile site
0.004 0.996 0.000
Q95.4 Individuals with marker heterochromatin
0.004 0.996 0.000
Q95.3 Balanced sex/autosomal rearrangement in abnormal individual
0.004 0.996 0.000
Q95.2 Balanced autosomal rearrangement in abnormal individual
0.004 0.996 0.000
Q95.1 Chromosome inversion in normal individual
0.004 0.996 0.000
Q95.0 Balanced translocation and insertion in normal individual
0.004 0.996 0.000
Q97.9 Sex chromosome abnormality, female phenotype, unspecified
0.004 0.996 0.000
Q97.8 Other specified sex chromosome abnormalities, female phenotype
0.004 0.996 0.000
Q97.3 Female with 46,XY karyotype
0.004 0.996 0.000
Q97.2 Mosaicism, lines with various numbers of X chromosomes
0.004 0.996 0.000
Q97.1 Female with more than three X chromosomes
0.004 0.996 0.000
Q97.0 Karyotype 47,XXX
0.004 0.996 0.000
Q99.9 Chromosomal abnormality, unspecified
0.004 0.996 0.000
Q99.8 Other specified chromosome abnormalities
0.004 0.996 0.000
Q99.2 Fragile X chromosome
0.004 0.996 0.000
Q99.1 46,XX true hermaphrodite
0.004 0.996 0.000
Q99.0 Chimera 46,XX/46,XY
0.004 0.996 0.000
Q56 Indeterminate sex and pseudohermaphroditism
0.004 0.996 0.000
Q07.8 Other specified congenital malformations of nervous system
0.004 0.996 0.000
Q61.4 Renal dysplasia
0.004 0.996 0.000
Q38 Other congenital malformations of tongue, mouth and pharynx
0.004 0.996 0.000
Q10.0 Congenital ptosis
0.004 0.996 0.000
Q10.7 Congenital malformation of orbit
0.004 0.996 0.000
Q10.6 Other congenital malformations of lachrymal apparatus
0.004 0.996 0.000
Q10.5 Congenital stenosis and stricture of lachrymal duct
0.004 0.996 0.000
Q10.4 Absence and agenesis of lachrymal apparatus
0.004 0.996 0.000
Q10.3 Other congenital malformations of eyelid
0.004 0.996 0.000
Q10.2 Congenital entropion
0.004 0.996 0.000
Q10.1 Congenital ectropion
0.004 0.996 0.000
Q15.9 Congenital malformation of eye, unspecified
0.004 0.996 0.000
Q15.8 Other specified congenital malformations of eye
0.004 0.996 0.000
Q15.0 Congenital glaucoma
0.004 0.996 0.000
Q13.9 Congenital malformation of anterior segment of eye, unspecified
0.004 0.996 0.000
Q13.8 Other congenital malformations of anterior segment of eye
0.004 0.996 0.000
Q13.5 Blue sclera
0.004 0.996 0.000
Q13.4 Other congenital corneal malformations
0.004 0.996 0.000
Q13.3 Congenital corneal opacity
0.004 0.996 0.000
Q13.2 Other congenital malformations of iris
0.004 0.996 0.000
Q13.1 Absence of iris
0.004 0.996 0.000
Q13.0 Coloboma of iris
0.004 0.996 0.000
Q16.9 Congenital malformation of ear causing impairment of hearing, unspecified
0.004 0.996 0.000
Q16.5 Congenital malformation of inner ear
0.004 0.996 0.000
Q16.4 Other congenital malformations of middle ear
0.004 0.996 0.000
Q16.3 Congenital malformation of ear ossicles
0.004 0.996 0.000
Q16.2 Absence of eustachian tube
0.004 0.996 0.000
Q16.1 Congenital absence, atresia and stricture of auditory canal (external)
0.004 0.996 0.000
Q16.0 Congenital absence of (ear) auricle
0.004 0.996 0.000
Q11.3 Macrophthalmos
0.004 0.996 0.000
Q11.2 Microphthalmos
0.004 0.996 0.000
Q11.0 Cystic eyeball
0.004 0.996 0.000
Q14.9 Congenital malformation of posterior segment of eye, unspecified
0.004 0.996 0.000
Q14.8 Other congenital malformations of posterior segment of eye
0.004 0.996 0.000
Q14.3 Congenital malformation of choroid
0.004 0.996 0.000
Q14.2 Congenital malformation of optic disk
0.004 0.996 0.000
Q14.0 Congenital malformation of vitreous humour
0.004 0.996 0.000
Q54.1 Hypospadias, penile
0.004 0.996 0.000
Q18.9 Congenital malformation of face and neck, unspecified
0.004 0.996 0.000
Q18.8 Other specified congenital malformations of face and neck
0.004 0.996 0.000
Q18.7 Microcheilia
0.004 0.996 0.000
Q18.6 Macrocheilia
0.004 0.996 0.000
Q18.5 Microstomia
0.004 0.996 0.000
Q18.4 Macrostomia
0.004 0.996 0.000
Q18.3 Webbing of neck
0.004 0.996 0.000
Q18.2 Other branchial cleft malformations
0.004 0.996 0.000
Q55 Other congenital malformations of male genital organs
0.004 0.996 0.000
Q37.8 Unspecified cleft palate with bilateral cleft lip
0.004 0.996 0.000
Q37.5 Cleft hard and soft palate with unilateral cleft lip
0.004 0.996 0.000
Q37.4 Cleft hard and soft palate with bilateral cleft lip
0.004 0.996 0.000
Q37.3 Cleft soft palate with unilateral cleft lip
0.004 0.996 0.000
Q37.2 Cleft soft palate with bilateral cleft lip
0.004 0.996 0.000
Q37.1 Cleft hard palate with unilateral cleft lip
0.004 0.996 0.000
Q37.0 Cleft hard palate with bilateral cleft lip
0.004 0.996 0.000
Q44.7 Other congenital malformations of liver
0.004 0.996 0.000
Q44.4 Choledochal cyst
0.004 0.996 0.000
Q44.3 Congenital stenosis and stricture of bile ducts
0.004 0.996 0.000
Q44.2 Atresia of bile ducts
0.004 0.996 0.000
Q44.1 Other congenital malformations of gallbladder
0.004 0.996 0.000
Q44.0 Agenesis, aplasia and hypoplasia of gallbladder
0.004 0.996 0.000
F20 Schizophrenia
0.004 0.996 0.000
Q52 Other congenital malformations of female genitalia
0.004 0.996 0.000
Q14.1 Congenital malformation of retina
0.004 0.996 0.000
Q31.9 Congenital malformation of larynx, unspecified
0.004 0.996 0.000
Q31.8 Other congenital malformations of larynx
0.004 0.996 0.000
Q31.5 Congenital laryngomalacia
0.004 0.996 0.000
Q31.4 Congenital laryngeal stridor
0.004 0.996 0.000
Q31.3 Laryngocele
0.004 0.996 0.000
Q31.2 Laryngeal hypoplasia
0.004 0.996 0.000
Q31.1 Congenital subglottic stenosis
0.004 0.996 0.000
Q07.9 Congenital malformation of nervous system, unspecified
0.004 0.996 0.000
Q11.1 Other anophthalmos
0.004 0.996 0.000
F69 Unspecified disorder of adult personality and behaviour
0.004 0.996 0.000
Q54.8 Other hypospadias
0.004 0.996 0.000
Q54.4 Congenital chordee
0.004 0.996 0.000
Q54.3 Hypospadias, perineal
0.004 0.996 0.000
Q54.2 Hypospadias, penoscrotal
0.004 0.996 0.000
Q53 Undescended testicle
0.004 0.996 0.000
Q43.1 Hirschsprung's disease
0.004 0.996 0.000
Q61.8 Other cystic kidney diseases
0.004 0.996 0.000
Q61.1 Polycystic kidney, infantile type
0.004 0.996 0.000
Q61.2 Polycystic kidney, adult type
0.004 0.996 0.000
Q43.7 Persistent cloaca
0.004 0.996 0.000
Q43.6 Congenital fistula of rectum and anus
0.004 0.996 0.000
Q43.5 Ectopic anus
0.004 0.996 0.000
Q43.4 Duplication of intestine
0.004 0.996 0.000
Q43.2 Other congenital functional disorders of colon
0.004 0.996 0.000
Q43.3 Congenital malformations of intestinal fixation
0.004 0.996 0.000
Q68 Other congenital musculoskeletal deformities
0.004 0.996 0.000
F25.9 Schizoaffective disorder, unspecified
0.004 0.996 0.000
Q44.6 Cystic disease of liver
0.004 0.996 0.000
K80.1 Calculus of gallbladder with other cholecystitis
0.004 0.996 0.000
Q61.5 Medullary cystic kidney
0.004 0.996 0.000
Q30.9 Congenital malformation of nose, unspecified
0.004 0.996 0.000
Q30.8 Other congenital malformations of nose
0.004 0.996 0.000
Q30.3 Congenital perforated nasal septum
0.004 0.996 0.000
Q30.2 Fissured, notched and cleft nose
0.004 0.996 0.000
Q30.1 Agenesis and underdevelopment of nose
0.004 0.996 0.000
Q30.0 Choanal atresia
0.004 0.996 0.000
Q32.4 Other congenital malformations of bronchus
0.004 0.996 0.000
Q32.3 Congenital stenosis of bronchus
0.004 0.996 0.000
Q32.2 Congenital bronchomalacia
0.004 0.996 0.000
Q32.1 Other congenital malformations of trachea
0.004 0.996 0.000
Q32.0 Congenital tracheomalacia
0.004 0.996 0.000
Q33.9 Congenital malformation of lung, unspecified
0.004 0.996 0.000
Q33.8 Other congenital malformations of lung
0.004 0.996 0.000
Q33.6 Hypoplasia and dysplasia of lung
0.004 0.996 0.000
Q33.5 Ectopic tissue in lung
0.004 0.996 0.000
Q33.4 Congenital bronchiectasis
0.004 0.996 0.000
Q33.3 Agenesis of lung
0.004 0.996 0.000
Q33.2 Sequestration of lung
0.004 0.996 0.000
Q33.1 Accessory lobe of lung
0.004 0.996 0.000
Q33.0 Congenital cystic lung
0.004 0.996 0.000
Q34.9 Congenital malformation of respiratory system, unspecified
0.004 0.996 0.000
Q34.8 Other specified congenital malformations of respiratory system
0.004 0.996 0.000
Q34.1 Congenital cyst of mediastinum
0.004 0.996 0.000
Q34.0 Anomaly of pleura
0.004 0.996 0.000
Q35.9 Cleft palate, unspecified
0.004 0.996 0.000
Q35.8 (Cleft palate, unspecified, bilateral)
0.004 0.996 0.000
Q35.7 Cleft uvula
0.004 0.996 0.000
Q35.6 Cleft palate, medial
0.004 0.996 0.000
Q35.5 Cleft hard palate with cleft soft palate
0.004 0.996 0.000
Q35.4 (Cleft hard palate with cleft soft palate, bilateral)
0.004 0.996 0.000
Q35.3 Cleft soft palate
0.004 0.996 0.000
Q35.2 (Cleft soft palate, bilateral)
0.004 0.996 0.000
Q35.1 Cleft hard palate
0.004 0.996 0.000
Q35.0 (Cleft hard palate, bilateral)
0.004 0.996 0.000
Q36.9 Cleft lip, unilateral
0.004 0.996 0.000
Q36.1 Cleft lip, medial
0.004 0.996 0.000
Q36.0 Cleft lip, bilateral
0.004 0.996 0.000
Q65.8 Other congenital deformities of hip
0.004 0.996 0.000
Q98.9 Sex chromosome abnormality, male phenotype, unspecified
0.004 0.996 0.000
Q98.8 Other specified sex chromosome abnormalities, male phenotype
0.004 0.996 0.000
Q98.7 Male with sex chromosome mosaicism
0.004 0.996 0.000
Q98.6 Male with structurally abnormal sex chromosome
0.004 0.996 0.000
Q98.5 Karyotype 47,XYY
0.004 0.996 0.000
Q98.3 Other male with 46,XX karyotype
0.004 0.996 0.000
Q98.2 Klinefelter's syndrome, male with 46,XX karyotype
0.004 0.996 0.000
Q98.1 Klinefelter's syndrome, male with more than two X chromosomes
0.004 0.996 0.000
Q98.0 Klinefelter's syndrome karyotype 47,XXY
0.004 0.996 0.000
Q44.5 Other congenital malformations of bile ducts
0.004 0.996 0.000
Q77 Osteochondrodysplasia with defects of growth of tubular bones and spine
0.004 0.996 0.000
Q43.8 Other specified congenital malformations of intestine
0.004 0.996 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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