TreeWAS – Variant ID: rs13396424

Hospitalization Episode Statistics (HES)

Self-Reported Statistics (SRS)

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Results table

Term	Risk posterior probability	No effect posterior probability
Q23.1 Congenital insufficiency of aortic valve	0.190	0.810
Q23 Congenital malformations of aortic and mitral valves	0.180	0.820
Q20-Q28 Congenital malformations of the circulatory system	0.163	0.837
Q21 Congenital malformations of cardiac septa	0.154	0.846
Q23.0 Congenital stenosis of aortic valve	0.150	0.850
Q23.3 Congenital mitral insufficiency	0.144	0.856
Q25 Congenital malformations of great arteries	0.142	0.858
Q21.1 Atrial septal defect	0.141	0.859
Q23.9 Congenital malformation of aortic and mitral valves, unspecified	0.129	0.871
Q23.8 Other congenital malformations of aortic and mitral valves	0.129	0.871
Q23.4 Hypoplastic left heart syndrome	0.129	0.871
Q23.2 Congenital mitral stenosis	0.129	0.871
Q21.0 Ventricular septal defect	0.128	0.872
Q25.1 Coarctation of aorta	0.125	0.875
Q24 Other congenital malformations of heart	0.119	0.881
Q21.3 Tetralogy of Fallot	0.119	0.881
Q26 Congenital malformations of great veins	0.117	0.883
Q22 Congenital malformations of pulmonary and tricuspid valves	0.117	0.883
Q20 Congenital malformations of cardiac chambers and connexions	0.117	0.883
Q21.8 Other congenital malformations of cardiac septa	0.111	0.889
Q21.4 Aortopulmonary septal defect	0.111	0.889
Q21.2 Atrioventricular septal defect	0.111	0.889
Q21.9 Congenital malformation of cardiac septum, unspecified	0.110	0.890
Q25.6 Stenosis of pulmonary artery	0.106	0.894
Chapter XVII Congenital malformations, deformations and chromosomal abnormalities	0.104	0.896
Q25.9 Congenital malformation of great arteries, unspecified	0.102	0.898
Q25.8 Other congenital malformations of great arteries	0.102	0.898
Q25.7 Other congenital malformations of pulmonary artery	0.102	0.898
Q25.5 Atresia of pulmonary artery	0.102	0.898
Q25.4 Other congenital malformations of aorta	0.102	0.898
Q25.3 Stenosis of aorta	0.102	0.898
Q25.2 Atresia of aorta	0.102	0.898
Q25.0 Patent ductus arteriosus	0.102	0.898
Q28 Other congenital malformations of circulatory system	0.100	0.900
Q24.8 Other specified congenital malformations of heart	0.096	0.904
Q38-Q45 Other congenital malformations of the digestive system	0.094	0.906
Q24.0 Dextrocardia	0.094	0.906
Q60-Q64 Congenital malformations of the urinary system	0.090	0.910
Q43 Other congenital malformations of intestine	0.087	0.913
Q24.6 Congenital heart block	0.086	0.914
Q24.4 Congenital subaortic stenosis	0.086	0.914
Q24.3 Pulmonary infundibular stenosis	0.086	0.914
Q24.2 Cor triatriatum	0.086	0.914
Q24.1 Levocardia	0.086	0.914
Q20.9 Congenital malformation of cardiac chambers and connexions, unspecified	0.084	0.916
Q20.8 Other congenital malformations of cardiac chambers and connexions	0.084	0.916
Q20.6 Isomerism of atrial appendages	0.084	0.916
Q20.5 Discordant atrioventricular connexion	0.084	0.916
Q20.4 Double inlet ventricle	0.084	0.916
Q20.3 Discordant ventriculoarterial connexion	0.084	0.916
Q20.2 Double outlet left ventricle	0.084	0.916
Q20.1 Double outlet right ventricle	0.084	0.916
Q20.0 Common arterial trunk	0.084	0.916
Q22.9 Congenital malformation of tricuspid valve, unspecified	0.084	0.916
Q22.8 Other congenital malformations of tricuspid valve	0.084	0.916
Q22.6 Hypoplastic right heart syndrome	0.084	0.916
Q22.5 Ebstein's anomaly	0.084	0.916
Q22.4 Congenital tricuspid stenosis	0.084	0.916
Q22.3 Other congenital malformations of pulmonary valve	0.084	0.916
Q22.2 Congenital pulmonary valve insufficiency	0.084	0.916
Q22.1 Congenital pulmonary valve stenosis	0.084	0.916
Q22.0 Pulmonary valve atresia	0.084	0.916
Q26.9 Congenital malformation of great vein, unspecified	0.084	0.916
Q26.8 Other congenital malformations of great veins	0.084	0.916
Q26.6 Portal vein-hepatic artery fistula	0.084	0.916
Q26.5 Anomalous portal venous connexion	0.084	0.916
Q26.4 Anomalous pulmonary venous connexion, unspecified	0.084	0.916
Q26.3 Partial anomalous pulmonary venous connexion	0.084	0.916
Q26.2 Total anomalous pulmonary venous connexion	0.084	0.916
Q26.1 Persistent left superior vena cava	0.084	0.916
Q26.0 Congenital stenosis of vena cava	0.084	0.916
Q61 Cystic kidney disease	0.082	0.918
Q27 Other congenital malformations of peripheral vascular system	0.081	0.919
Q61.0 Congenital single renal cyst	0.081	0.919
Q80-Q89 Other congenital malformations	0.081	0.919
Q43.0 Meckel's diverticulum	0.080	0.920
Q10-Q18 Congenital malformations of eye, ear, face and neck	0.079	0.921
Q24.5 Malformation of coronary vessels	0.078	0.922
Q35-Q37 Cleft lip and cleft palate	0.075	0.925
Q30-Q34 Congenital malformations of the respiratory system	0.075	0.925
Q65-Q79 Congenital malformations and deformations of the musculoskeletal system	0.075	0.925
Q24.9 Congenital malformation of the heart, unspecified	0.073	0.927
Q89 Other congenital malformations, not elsewhere classified	0.073	0.927
Q38 Other congenital malformations of tongue, mouth and pharynx	0.073	0.927
Q90-Q99 Chromosomal abnormalities, not elsewhere classified	0.073	0.927
Q43.9 Congenital malformation of intestine, unspecified	0.072	0.927
Q28.9 Congenital malformation of circulatory system, unspecified	0.072	0.928
Q28.8 Other specified congenital malformations of circulatory system	0.072	0.928
Q28.3 Other malformations of cerebral vessels	0.072	0.928
Q28.1 Other malformations of precerebral vessels	0.072	0.928
Q28.0 Arteriovenous malformation of precerebral vessels	0.072	0.928
Q44 Congenital malformations of gallbladder, bile ducts and liver	0.070	0.930
Q42 Congenital absence, atresia and stenosis of large intestine	0.068	0.932
Q41 Congenital absence, atresia and stenosis of small intestine	0.068	0.932
Q40 Other congenital malformations of upper alimentary tract	0.068	0.932
Q89.2 Congenital malformations of other endocrine glands	0.067	0.932
Q45 Other congenital malformations of digestive system	0.066	0.934
Q64 Other congenital malformations of urinary system	0.065	0.935
Q43.3 Congenital malformations of intestinal fixation	0.065	0.935
Q61.4 Renal dysplasia	0.064	0.936
Q62 Congenital obstructive defects of renal pelvis and congenital malformations of ureter	0.064	0.936
Q61.9 Cystic kidney disease, unspecified	0.064	0.936
Q63 Other congenital malformations of kidney	0.064	0.936
Q65 Congenital deformities of hip	0.063	0.937
Q43.7 Persistent cloaca	0.062	0.937
Q43.6 Congenital fistula of rectum and anus	0.062	0.937
Q43.5 Ectopic anus	0.062	0.937
Q43.4 Duplication of intestine	0.062	0.937
Q43.2 Other congenital functional disorders of colon	0.062	0.937
Q43.1 Hirschsprung's disease	0.062	0.937
Q18 Other congenital malformations of face and neck	0.062	0.938
Q60 Renal agenesis and other reduction defects of kidney	0.062	0.938
Q39 Congenital malformations of oesophagus	0.061	0.939
Q87 Other specified congenital malformation syndromes affecting multiple systems	0.060	0.940
Q61.5 Medullary cystic kidney	0.060	0.940
Q00-Q07 Congenital malformations of the nervous system	0.060	0.940
Q61.8 Other cystic kidney diseases	0.059	0.941
Q61.1 Polycystic kidney, infantile type	0.059	0.941
Q15 Other congenital malformations of eye	0.059	0.941
Q27.4 Congenital phlebectasia	0.058	0.941
Q27.2 Other congenital malformations of renal artery	0.058	0.941
Q27.1 Congenital renal artery stenosis	0.058	0.941
Q27.0 Congenital absence and hypoplasia of umbilical artery	0.058	0.941
Q27.8 Other specified congenital malformations of peripheral vascular system	0.058	0.942
Q86 Congenital malformation syndromes due to known exogenous causes, not elsewhere classified	0.058	0.942
Q84 Other congenital malformations of integument	0.058	0.942
Q81 Epidermolysis bullosa	0.058	0.942
Q80 Congenital ichthyosis	0.058	0.942
Q74 Other congenital malformations of limb(s)	0.058	0.942
Q12 Congenital lens malformations	0.058	0.942
Q38.7 Pharyngeal pouch	0.058	0.942
Q16 Congenital malformations of ear causing impairment of hearing	0.057	0.943
Q14 Congenital malformations of posterior segment of eye	0.057	0.943
Q13 Congenital malformations of anterior segment of eye	0.057	0.943
Q11 Anophthalmos, microphthalmos and macrophthalmos	0.057	0.943
Q83 Congenital malformations of breast	0.056	0.944
Q28.2 Arteriovenous malformation of cerebral vessels	0.055	0.945
Q10 Congenital malformations of eyelid, lachrymal apparatus and orbit	0.055	0.945
Q65.8 Other congenital deformities of hip	0.055	0.945
Q34 Other congenital malformations of respiratory system	0.054	0.946
Q33 Congenital malformations of lung	0.054	0.946
Q32 Congenital malformations of trachea and bronchus	0.054	0.946
Q31 Congenital malformations of larynx	0.054	0.946
Q30 Congenital malformations of nose	0.054	0.946
Q37 Cleft palate with cleft lip	0.054	0.946
Q36 Cleft lip	0.054	0.946
Q35 Cleft palate	0.054	0.946
Q77 Osteochondrodysplasia with defects of growth of tubular bones and spine	0.054	0.946
Q75 Other congenital malformations of skull and face bones	0.054	0.946
Q73 Reduction defects of unspecified limb	0.054	0.946
Q72 Reduction defects of lower limb	0.054	0.946
Q71 Reduction defects of upper limb	0.054	0.946
Q70 Syndactyly	0.054	0.946
Q69 Polydactyly	0.054	0.946
Q68 Other congenital musculoskeletal deformities	0.054	0.946
Q27.9 Congenital malformation of peripheral vascular system, unspecified	0.053	0.946
Q18.0 Sinus, fistula and cyst of branchial cleft	0.053	0.947
Q76 Congenital malformations of spine and bony thorax	0.053	0.947
Q43.8 Other specified congenital malformations of intestine	0.053	0.947
Q66 Congenital deformities of feet	0.053	0.947
Q89.9 Congenital malformation, unspecified	0.052	0.947
Q89.8 Other specified congenital malformations	0.052	0.947
Q89.7 Multiple congenital malformations, not elsewhere classified	0.052	0.947
Q89.4 Conjoined twins	0.052	0.947
Q89.3 Situs inversus	0.052	0.947
Q89.1 Congenital malformations of adrenal gland	0.052	0.947
Q89.0 Congenital malformations of spleen	0.052	0.947
Q38.8 Other congenital malformations of pharynx	0.052	0.947
Q38.6 Other congenital malformations of mouth	0.052	0.947
Q38.5 Congenital malformations of palate, not elsewhere classified	0.052	0.947
Q38.4 Congenital malformations of salivary glands and ducts	0.052	0.947
Q38.3 Other congenital malformations of tongue	0.052	0.947
Q38.2 Macroglossia	0.052	0.947
Q38.1 Ankyloglossia	0.052	0.947
Q38.0 Congenital malformations of lips, not elsewhere classified	0.052	0.947
Q99 Other chromosome abnormalities, not elsewhere classified	0.052	0.948
Q97 Other sex chromosome abnormalities, female phenotype, not elsewhere classified	0.052	0.948
Q95 Balanced rearrangements and structural markers, not elsewhere classified	0.052	0.948
Q93 Monosomies and deletions from the autosomes, not elsewhere classified	0.052	0.948
Q92 Other trisomies and partial trisomies of the autosomes, not elsewhere classified	0.052	0.948
Q91 Edwards' syndrome and Patau's syndrome	0.052	0.948
Q90 Down's syndrome	0.052	0.948
Q44.6 Cystic disease of liver	0.052	0.948
Q17 Other congenital malformations of ear	0.052	0.948
Q63.8 Other specified congenital malformations of kidney	0.052	0.948
Q96 Turner's syndrome	0.051	0.948
Q98 Other sex chromosome abnormalities, male phenotype, not elsewhere classified	0.051	0.949
Q44.7 Other congenital malformations of liver	0.050	0.950
Q44.5 Other congenital malformations of bile ducts	0.050	0.950
Q44.4 Choledochal cyst	0.050	0.950
Q44.3 Congenital stenosis and stricture of bile ducts	0.050	0.950
Q44.2 Atresia of bile ducts	0.050	0.950
Q44.1 Other congenital malformations of gallbladder	0.050	0.950
Q44.0 Agenesis, aplasia and hypoplasia of gallbladder	0.050	0.950
Q82 Other congenital malformations of skin	0.050	0.950
Q78 Other osteochondrodysplasias	0.049	0.951
Q79 Congenital malformations of musculoskeletal system, not elsewhere classified	0.049	0.951
Q40.9 Congenital malformation of upper alimentary tract, unspecified	0.049	0.951
Q40.8 Other specified congenital malformations of upper alimentary tract	0.049	0.951
Q40.3 Congenital malformation of stomach, unspecified	0.049	0.951
Q40.2 Other specified congenital malformations of stomach	0.049	0.951
Q40.1 Congenital hiatus hernia	0.049	0.951
Q40.0 Congenital hypertrophic pyloric stenosis	0.049	0.951
Q41.9 Congenital absence, atresia and stenosis of small intestine, part unspecified	0.049	0.951
Q41.8 Congenital absence, atresia and stenosis of other specified parts of small intestine	0.049	0.951
Q41.2 Congenital absence, atresia and stenosis of ileum	0.049	0.951
Q41.1 Congenital absence, atresia and stenosis of jejunum	0.049	0.951
Q41.0 Congenital absence, atresia and stenosis of duodenum	0.049	0.951
Q42.9 Congenital absence, atresia and stenosis of large intestine, part unspecified	0.049	0.951
Q42.8 Congenital absence, atresia and stenosis of other parts of large intestine	0.049	0.951
Q42.3 Congenital absence, atresia and stenosis of anus without fistula	0.049	0.951
Q42.2 Congenital absence, atresia and stenosis of anus with fistula	0.049	0.951
Q42.1 Congenital absence, atresia and stenosis of rectum without fistula	0.049	0.951
Q42.0 Congenital absence, atresia and stenosis of rectum with fistula	0.049	0.951
Q45.9 Congenital malformation of digestive system, unspecified	0.047	0.952
Q45.3 Other congenital malformations of pancreas and pancreatic duct	0.047	0.952
Q45.2 Congenital pancreatic cyst	0.047	0.952
Q45.1 Annular pancreas	0.047	0.952
Q45.0 Agenesis, aplasia and hypoplasia of pancreas	0.047	0.952
Q60.2 Renal agenesis, unspecified	0.047	0.953
Q64.3 Other atresia and stenosis of urethra and bladder neck	0.047	0.953
Q64.9 Congenital malformation of urinary system, unspecified	0.047	0.953
Q64.8 Other specified congenital malformations of urinary system	0.047	0.953
Q64.7 Other congenital malformations of bladder and urethra	0.047	0.953
Q64.6 Congenital diverticulum of bladder	0.047	0.953
Q64.5 Congenital absence of bladder and urethra	0.047	0.953
Q64.4 Malformation of urachus	0.047	0.953
Q64.2 Congenital posterior urethral valves	0.047	0.953
Q64.1 Exstrophy of urinary bladder	0.047	0.953
Q64.0 Epispadias	0.047	0.953
Q62.8 Other congenital malformations of ureter	0.046	0.954
Q62.7 Congenital vesico-uretero-renal reflux	0.046	0.954
Q62.6 Malposition of ureter	0.046	0.954
Q62.4 Agenesis of ureter	0.046	0.954
Q62.3 Other obstructive defects of renal pelvis and ureter	0.046	0.954
Q62.2 Congenital megaloureter	0.046	0.954
Q62.1 Atresia and stenosis of ureter	0.046	0.954
Q62.0 Congenital hydronephrosis	0.046	0.954
Q85 Phakomatoses, not elsewhere classified	0.046	0.954
Q67 Congenital musculoskeletal deformities of head, face, spine and chest	0.046	0.954
Q87.4 Marfan's syndrome	0.046	0.954
Q45.8 Other specified congenital malformations of digestive system	0.046	0.954
Q63.9 Congenital malformation of kidney, unspecified	0.046	0.954
Q63.3 Hyperplastic and giant kidney	0.046	0.954
Q63.2 Ectopic kidney	0.046	0.954
Q65.9 Congenital deformity of hip, unspecified	0.045	0.954
Q65.6 Unstable hip	0.045	0.954
Q65.5 Congenital subluxation of hip, unspecified	0.045	0.954
Q65.4 Congenital subluxation of hip, bilateral	0.045	0.954
Q65.3 Congenital subluxation of hip, unilateral	0.045	0.954
Q65.2 Congenital dislocation of hip, unspecified	0.045	0.954
Q65.1 Congenital dislocation of hip, bilateral	0.045	0.954
Q65.0 Congenital dislocation of hip, unilateral	0.045	0.954
Q62.5 Duplication of ureter	0.045	0.954
Q15.0 Congenital glaucoma	0.045	0.955
Q18.9 Congenital malformation of face and neck, unspecified	0.045	0.955
Q18.8 Other specified congenital malformations of face and neck	0.045	0.955
Q18.7 Microcheilia	0.045	0.955
Q18.6 Macrocheilia	0.045	0.955
Q18.5 Microstomia	0.045	0.955
Q18.4 Macrostomia	0.045	0.955
Q18.3 Webbing of neck	0.045	0.955
Q18.2 Other branchial cleft malformations	0.045	0.955
Q60.6 Potter's syndrome	0.045	0.955
Q60.5 Renal hypoplasia, unspecified	0.045	0.955
Q60.4 Renal hypoplasia, bilateral	0.045	0.955
Q60.3 Renal hypoplasia, unilateral	0.045	0.955
Q60.1 Renal agenesis, bilateral	0.045	0.955
Q74.1 Congenital malformation of knee	0.044	0.956
Q74.0 Other congenital malformations of upper limb(s), including shoulder girdle	0.044	0.956
Q39.9 Congenital malformation of oesophagus, unspecified	0.044	0.956
Q39.8 Other congenital malformations of oesophagus	0.044	0.956
Q39.5 Congenital dilatation of oesophagus	0.044	0.956
Q39.3 Congenital stenosis and stricture of oesophagus	0.044	0.956
Q39.2 Congenital tracheooesophageal fistula without atresia	0.044	0.956
Q39.1 Atresia of oesophagus with tracheooesophageal fistula	0.044	0.956
Q39.0 Atresia of oesophagus without fistula	0.044	0.956
Q87.5 Other congenital malformation syndromes with other skeletal changes	0.043	0.956
Q87.3 Congenital malformation syndromes involving early overgrowth	0.043	0.956
Q87.2 Congenital malformation syndromes predominantly involving limbs	0.043	0.956
Q87.1 Congenital malformation syndromes predominantly associated with short stature	0.043	0.956
Q87.0 Congenital malformation syndromes predominantly affecting facial appearance	0.043	0.956
Q63.1 Lobulated, fused and horseshoe kidney	0.043	0.957
Q12.0 Congenital cataract	0.043	0.957
Q06 Other congenital malformations of spinal cord	0.043	0.957
Q04 Other congenital malformations of brain	0.043	0.957
Q03 Congenital hydrocephalus	0.043	0.957
Q01 Encephalocele	0.043	0.957
Q00 Anencephaly and similar malformations	0.043	0.957
Q02 Microcephaly	0.043	0.957
Q50-Q56 Congenital malformations of genital organs	0.043	0.957
Q87.8 Other specified congenital malformation syndromes, not elsewhere classified	0.043	0.957
Q15.9 Congenital malformation of eye, unspecified	0.043	0.957
Q15.8 Other specified congenital malformations of eye	0.043	0.957
Q83.8 Other congenital malformations of breast	0.042	0.958
Q80.9 Congenital ichthyosis, unspecified	0.042	0.958
Q80.8 Other congenital ichthyosis	0.042	0.958
Q80.4 Harlequin foetus	0.042	0.958
Q80.3 Congenital bullous ichthyosiform erythroderma	0.042	0.958
Q80.2 Lamellar ichthyosis	0.042	0.958
Q80.1 X-linked ichthyosis	0.042	0.958
Q80.0 Ichthyosis vulgaris	0.042	0.958
Q81.9 Epidermolysis bullosa, unspecified	0.042	0.958
Q81.8 Other epidermolysis bullosa	0.042	0.958
Q81.2 Epidermolysis bullosa dystrophica	0.042	0.958
Q81.1 Epidermolysis bullosa letalis	0.042	0.958
Q81.0 Epidermolysis bullosa simplex	0.042	0.958
Q84.9 Congenital malformation of integument, unspecified	0.042	0.958
Q84.8 Other specified congenital malformations of integument	0.042	0.958
Q84.6 Other congenital malformations of nails	0.042	0.958
Q84.5 Enlarged and hypertrophic nails	0.042	0.958
Q84.4 Congenital leukonychia	0.042	0.958
Q84.3 Anonychia	0.042	0.958
Q84.2 Other congenital malformations of hair	0.042	0.958
Q84.1 Congenital morphological disturbances of hair, not elsewhere classified	0.042	0.958
Q84.0 Congenital alopecia	0.042	0.958
Q86.8 Other congenital malformation syndromes due to known exogenous causes	0.042	0.958
Q86.2 Dysmorphism due to warfarin	0.042	0.958
Q86.1 Foetal hydantoin syndrome	0.042	0.958
Q86.0 Foetal alcohol syndrome (dysmorphic)	0.042	0.958
Q61.3 Polycystic kidney, unspecified	0.042	0.958
Q74.9 Unspecified congenital malformation of limb(s)	0.042	0.958
Q74.8 Other specified congenital malformations of limb(s)	0.042	0.958
Q74.3 Arthrogryposis multiplex congenita	0.042	0.958
Q74.2 Other congenital malformations of lower limb(s), including pelvic girdle	0.042	0.958
Q12.9 Congenital lens malformation, unspecified	0.042	0.958
Q12.8 Other congenital lens malformations	0.042	0.958
Q12.4 Spherophakia	0.042	0.958
Q12.3 Congenital aphakia	0.042	0.958
Q12.2 Coloboma of lens	0.042	0.958
Q12.1 Congenital displaced lens	0.042	0.958
Q66.2 Metatarsus varus	0.041	0.959
Q39.4 Oesophageal web	0.041	0.959
Q11.3 Macrophthalmos	0.041	0.959
Q11.2 Microphthalmos	0.041	0.959
Q11.1 Other anophthalmos	0.041	0.959
Q11.0 Cystic eyeball	0.041	0.959
Q13.9 Congenital malformation of anterior segment of eye, unspecified	0.041	0.959
Q13.8 Other congenital malformations of anterior segment of eye	0.041	0.959
Q13.5 Blue sclera	0.041	0.959
Q13.4 Other congenital corneal malformations	0.041	0.959
Q13.3 Congenital corneal opacity	0.041	0.959
Q13.2 Other congenital malformations of iris	0.041	0.959
Q13.1 Absence of iris	0.041	0.959
Q13.0 Coloboma of iris	0.041	0.959
Q14.9 Congenital malformation of posterior segment of eye, unspecified	0.041	0.959
Q14.8 Other congenital malformations of posterior segment of eye	0.041	0.959
Q14.3 Congenital malformation of choroid	0.041	0.959
Q14.2 Congenital malformation of optic disk	0.041	0.959
Q14.1 Congenital malformation of retina	0.041	0.959
Q14.0 Congenital malformation of vitreous humour	0.041	0.959
Q16.9 Congenital malformation of ear causing impairment of hearing, unspecified	0.041	0.959
Q16.5 Congenital malformation of inner ear	0.041	0.959
Q16.4 Other congenital malformations of middle ear	0.041	0.959
Q16.3 Congenital malformation of ear ossicles	0.041	0.959
Q16.2 Absence of eustachian tube	0.041	0.959
Q16.1 Congenital absence, atresia and stricture of auditory canal (external)	0.041	0.959
Q16.0 Congenital absence of (ear) auricle	0.041	0.959
Q39.6 Diverticulum of oesophagus	0.041	0.959
Q66.6 Other congenital valgus deformities of feet	0.040	0.960
Q83.9 Congenital malformation of breast, unspecified	0.040	0.960
Q83.3 Accessory nipple	0.040	0.960
Q83.2 Absent nipple	0.040	0.960
Q83.0 Congenital absence of breast with absent nipple	0.040	0.960
Q76.4 Other congenital malformations of spine, not associated with scoliosis	0.040	0.960
Q10.7 Congenital malformation of orbit	0.040	0.960
Q10.6 Other congenital malformations of lachrymal apparatus	0.040	0.960
Q10.5 Congenital stenosis and stricture of lachrymal duct	0.040	0.960
Q10.4 Absence and agenesis of lachrymal apparatus	0.040	0.960
Q10.3 Other congenital malformations of eyelid	0.040	0.960
Q10.2 Congenital entropion	0.040	0.960
Q10.1 Congenital ectropion	0.040	0.960
Q18.1 Preauricular sinus and cyst	0.039	0.961
Q66.0 Talipes equinovarus	0.039	0.961
Q30.9 Congenital malformation of nose, unspecified	0.039	0.961
Q30.8 Other congenital malformations of nose	0.039	0.961
Q30.3 Congenital perforated nasal septum	0.039	0.961
Q30.2 Fissured, notched and cleft nose	0.039	0.961
Q30.1 Agenesis and underdevelopment of nose	0.039	0.961
Q30.0 Choanal atresia	0.039	0.961
Q31.9 Congenital malformation of larynx, unspecified	0.039	0.961
Q31.8 Other congenital malformations of larynx	0.039	0.961
Q31.5 Congenital laryngomalacia	0.039	0.961
Q31.4 Congenital laryngeal stridor	0.039	0.961
Q31.3 Laryngocele	0.039	0.961
Q31.2 Laryngeal hypoplasia	0.039	0.961
Q31.1 Congenital subglottic stenosis	0.039	0.961
Q31.0 Web of larynx	0.039	0.961
Q32.4 Other congenital malformations of bronchus	0.039	0.961
Q32.3 Congenital stenosis of bronchus	0.039	0.961
Q32.2 Congenital bronchomalacia	0.039	0.961
Q32.1 Other congenital malformations of trachea	0.039	0.961
Q32.0 Congenital tracheomalacia	0.039	0.961
Q33.9 Congenital malformation of lung, unspecified	0.039	0.961
Q33.8 Other congenital malformations of lung	0.039	0.961
Q33.6 Hypoplasia and dysplasia of lung	0.039	0.961
Q33.5 Ectopic tissue in lung	0.039	0.961
Q33.4 Congenital bronchiectasis	0.039	0.961
Q33.3 Agenesis of lung	0.039	0.961
Q33.2 Sequestration of lung	0.039	0.961
Q33.1 Accessory lobe of lung	0.039	0.961
Q33.0 Congenital cystic lung	0.039	0.961
Q34.9 Congenital malformation of respiratory system, unspecified	0.039	0.961
Q34.8 Other specified congenital malformations of respiratory system	0.039	0.961
Q34.1 Congenital cyst of mediastinum	0.039	0.961
Q34.0 Anomaly of pleura	0.039	0.961
Q35.9 Cleft palate, unspecified	0.039	0.961
Q35.8 (Cleft palate, unspecified, bilateral)	0.039	0.961
Q35.7 Cleft uvula	0.039	0.961
Q35.6 Cleft palate, medial	0.039	0.961
Q35.5 Cleft hard palate with cleft soft palate	0.039	0.961
Q35.4 (Cleft hard palate with cleft soft palate, bilateral)	0.039	0.961
Q35.3 Cleft soft palate	0.039	0.961
Q35.2 (Cleft soft palate, bilateral)	0.039	0.961
Q35.1 Cleft hard palate	0.039	0.961
Q35.0 (Cleft hard palate, bilateral)	0.039	0.961
Q36.9 Cleft lip, unilateral	0.039	0.961
Q36.1 Cleft lip, medial	0.039	0.961
Q36.0 Cleft lip, bilateral	0.039	0.961
Q37.9 Unspecified cleft palate with unilateral cleft lip	0.039	0.961
Q37.8 Unspecified cleft palate with bilateral cleft lip	0.039	0.961
Q37.5 Cleft hard and soft palate with unilateral cleft lip	0.039	0.961
Q37.4 Cleft hard and soft palate with bilateral cleft lip	0.039	0.961
Q37.3 Cleft soft palate with unilateral cleft lip	0.039	0.961
Q37.2 Cleft soft palate with bilateral cleft lip	0.039	0.961
Q37.1 Cleft hard palate with unilateral cleft lip	0.039	0.961
Q37.0 Cleft hard palate with bilateral cleft lip	0.039	0.961
Q68.8 Other specified congenital musculoskeletal deformities	0.039	0.961
Q68.5 Congenital bowing of long bones of leg, unspecified	0.039	0.961
Q68.4 Congenital bowing of tibia and fibula	0.039	0.961
Q68.3 Congenital bowing of femur	0.039	0.961
Q68.2 Congenital deformity of knee	0.039	0.961
Q68.1 Congenital deformity of hand	0.039	0.961
Q68.0 Congenital deformity of sternocleidomastoid muscle	0.039	0.961
Q69.9 Polydactyly, unspecified	0.039	0.961
Q69.2 Accessory toe(s)	0.039	0.961
Q69.1 Accessory thumb(s)	0.039	0.961
Q69.0 Accessory finger(s)	0.039	0.961
Q70.9 Syndactyly, unspecified	0.039	0.961
Q70.4 Polysyndactyly	0.039	0.961
Q70.3 Webbed toes	0.039	0.961
Q70.2 Fused toes	0.039	0.961
Q70.1 Webbed fingers	0.039	0.961
Q70.0 Fused fingers	0.039	0.961
Q71.9 Reduction defect of upper limb, unspecified	0.039	0.961
Q71.8 Other reduction defects of upper limb(s)	0.039	0.961
Q71.6 Lobster-claw hand	0.039	0.961
Q71.5 Longitudinal reduction defect of ulna	0.039	0.961
Q71.4 Longitudinal reduction defect of radius	0.039	0.961
Q71.3 Congenital absence of hand and finger(s)	0.039	0.961
Q71.2 Congenital absence of both forearm and hand	0.039	0.961
Q71.1 Congenital absence of upper arm and forearm with hand present	0.039	0.961
Q71.0 Congenital complete absence of upper limb(s)	0.039	0.961
Q72.9 Reduction defect of lower limb, unspecified	0.039	0.961
Q72.8 Other reduction defects of lower limb(s)	0.039	0.961
Q72.7 Split foot	0.039	0.961
Q72.6 Longitudinal reduction defect of fibula	0.039	0.961
Q72.5 Longitudinal reduction defect of tibia	0.039	0.961
Q72.4 Longitudinal reduction defect of femur	0.039	0.961
Q72.3 Congenital absence of foot and toe(s)	0.039	0.961
Q72.2 Congenital absence of both lower leg and foot	0.039	0.961
Q72.1 Congenital absence of thigh and lower leg with foot present	0.039	0.961
Q72.0 Congenital complete absence of lower limb(s)	0.039	0.961
Q73.8 Other reduction defects of unspecified limb(s)	0.039	0.961
Q73.1 Phocomelia, unspecified limb(s)	0.039	0.961
Q73.0 Congenital absence of unspecified limb(s)	0.039	0.961
Q75.9 Congenital malformation of skull and face bones, unspecified	0.039	0.961
Q75.8 Other specified congenital malformations of skull and face bones	0.039	0.961
Q75.5 Oculomandibular dysostosis	0.039	0.961
Q75.4 Mandibulofacial dysostosis	0.039	0.961
Q75.3 Macrocephaly	0.039	0.961
Q75.2 Hypertelorism	0.039	0.961
Q75.1 Craniofacial dysostosis	0.039	0.961
Q75.0 Craniosynostosis	0.039	0.961
Q77.9 Osteochondrodysplasia with defects of growth of tubular bones and spine, unspecified	0.039	0.961
Q77.8 Other osteochondrodysplasia with defects of growth of tubular bones and spine	0.039	0.961
Q77.7 Spondyloepiphyseal dysplasia	0.039	0.961
Q77.6 Chondroectodermal dysplasia	0.039	0.961
Q77.5 Diastrophic dysplasia	0.039	0.961
Q77.4 Achondroplasia	0.039	0.961
Q77.3 Chondrodysplasia punctata	0.039	0.961
Q77.2 Short rib syndrome	0.039	0.961
Q77.1 Thanatophoric short stature	0.039	0.961
Q77.0 Achondrogenesis	0.039	0.961
Q60.0 Renal agenesis, unilateral	0.038	0.961
Q63.0 Accessory kidney	0.038	0.961
Q76.9 Congenital malformation of bony thorax, unspecified	0.038	0.962
Q76.8 Other congenital malformations of bony thorax	0.038	0.962
Q76.7 Congenital malformation of sternum	0.038	0.962
Q76.6 Other congenital malformations of ribs	0.038	0.962
Q76.5 Cervical rib	0.038	0.962
Q76.3 Congenital scoliosis due to congenital bony malformation	0.038	0.962
Q76.2 Congenital spondylolisthesis	0.038	0.962
Q76.1 Klippel-Feil syndrome	0.038	0.962
Q10.0 Congenital ptosis	0.038	0.962
Q66.9 Congenital deformity of feet, unspecified	0.038	0.962
Q66.7 Pes cavus	0.038	0.962
Q66.5 Congenital pes planus	0.038	0.962
Q66.4 Talipes calcaneovalgus	0.038	0.962
Q66.1 Talipes calcaneovarus	0.038	0.962

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.

Variant-specific associations