TreeWAS – Variant ID: rs11051170

Hospitalization Episode Statistics (HES)

Self-Reported Statistics (SRS)

Hierarchical visualisation How to interpret this figure?

Showing all nodes without filtering.

Click on a node to zoom (except terminal nodes).

Download this figure in format

Results table

Term	Risk posterior probability	No effect posterior probability
Q21.1 Atrial septal defect	0.092	0.908
Chapter XVII Congenital malformations, deformations and chromosomal abnormalities	0.090	0.910
Q21 Congenital malformations of cardiac septa	0.089	0.910
Q20-Q28 Congenital malformations of the circulatory system	0.088	0.912
Q80-Q89 Other congenital malformations	0.088	0.912
Q00-Q07 Congenital malformations of the nervous system	0.077	0.923
Q90-Q99 Chromosomal abnormalities, not elsewhere classified	0.076	0.924
Q89 Other congenital malformations, not elsewhere classified	0.075	0.925
Q82 Other congenital malformations of skin	0.075	0.925
Q38-Q45 Other congenital malformations of the digestive system	0.074	0.926
Q65-Q79 Congenital malformations and deformations of the musculoskeletal system	0.074	0.926
Q25 Congenital malformations of great arteries	0.073	0.927
Q85 Phakomatoses, not elsewhere classified	0.071	0.929
Q87 Other specified congenital malformation syndromes affecting multiple systems	0.070	0.930
Q83 Congenital malformations of breast	0.070	0.930
Q50-Q56 Congenital malformations of genital organs	0.070	0.930
Q05 Spina bifida	0.069	0.931
Q89.2 Congenital malformations of other endocrine glands	0.067	0.933
Q66 Congenital deformities of feet	0.067	0.933
Q60-Q64 Congenital malformations of the urinary system	0.066	0.934
Q21.0 Ventricular septal defect	0.065	0.935
Q35-Q37 Cleft lip and cleft palate	0.065	0.935
Q30-Q34 Congenital malformations of the respiratory system	0.065	0.935
Q10-Q18 Congenital malformations of eye, ear, face and neck	0.064	0.936
Q21.9 Congenital malformation of cardiac septum, unspecified	0.064	0.936
Q21.8 Other congenital malformations of cardiac septa	0.064	0.936
Q21.4 Aortopulmonary septal defect	0.064	0.936
Q21.3 Tetralogy of Fallot	0.064	0.936
Q21.2 Atrioventricular septal defect	0.064	0.936
Q23 Congenital malformations of aortic and mitral valves	0.064	0.936
Q98 Other sex chromosome abnormalities, male phenotype, not elsewhere classified	0.063	0.937
Q26 Congenital malformations of great veins	0.063	0.937
Q22 Congenital malformations of pulmonary and tricuspid valves	0.063	0.937
Q20 Congenital malformations of cardiac chambers and connexions	0.063	0.937
Q86 Congenital malformation syndromes due to known exogenous causes, not elsewhere classified	0.063	0.937
Q84 Other congenital malformations of integument	0.063	0.937
Q81 Epidermolysis bullosa	0.063	0.937
Q80 Congenital ichthyosis	0.063	0.937
Q82.8 Other specified congenital malformations of skin	0.063	0.937
Q43 Other congenital malformations of intestine	0.062	0.938
Q39 Congenital malformations of oesophagus	0.062	0.938
Q82.2 Mastocytosis	0.060	0.940
Q90 Down's syndrome	0.060	0.940
Q85.0 Neurofibromatosis (nonmalignant)	0.059	0.940
Q05.9 Spina bifida, unspecified	0.059	0.941
Q25.1 Coarctation of aorta	0.059	0.941
Q25.6 Stenosis of pulmonary artery	0.058	0.941
Q66.3 Other congenital varus deformities of feet	0.058	0.942
Q87.0 Congenital malformation syndromes predominantly affecting facial appearance	0.058	0.942
Q05.4 Unspecified spina bifida with hydrocephalus	0.058	0.942
Q65 Congenital deformities of hip	0.057	0.943
Q83.8 Other congenital malformations of breast	0.057	0.943
Q50 Congenital malformations of ovaries, Fallopian tubes and broad ligaments	0.056	0.943
Q27 Other congenital malformations of peripheral vascular system	0.056	0.944
Q06 Other congenital malformations of spinal cord	0.055	0.945
Q04 Other congenital malformations of brain	0.055	0.945
Q03 Congenital hydrocephalus	0.055	0.945
Q01 Encephalocele	0.055	0.945
Q00 Anencephaly and similar malformations	0.055	0.945
Q02 Microcephaly	0.055	0.945
Q66.8 Other congenital deformities of feet	0.055	0.945
Q99 Other chromosome abnormalities, not elsewhere classified	0.055	0.945
Q97 Other sex chromosome abnormalities, female phenotype, not elsewhere classified	0.055	0.945
Q96 Turner's syndrome	0.055	0.945
Q95 Balanced rearrangements and structural markers, not elsewhere classified	0.055	0.945
Q93 Monosomies and deletions from the autosomes, not elsewhere classified	0.055	0.945
Q92 Other trisomies and partial trisomies of the autosomes, not elsewhere classified	0.055	0.945
Q91 Edwards' syndrome and Patau's syndrome	0.055	0.945
Q98.4 Klinefelter's syndrome, unspecified	0.054	0.946
Q82.9 Congenital malformation of skin, unspecified	0.054	0.946
Q82.5 Congenital nonneoplastic naevus	0.054	0.946
Q82.4 Ectodermal dysplasia (anhidrotic)	0.054	0.946
Q82.3 Incontinentia pigmenti	0.054	0.946
Q82.1 Xeroderma pigmentosum	0.054	0.946
Q82.0 Hereditary lymphoedema	0.054	0.946
Q89.9 Congenital malformation, unspecified	0.054	0.946
Q89.8 Other specified congenital malformations	0.054	0.946
Q89.7 Multiple congenital malformations, not elsewhere classified	0.054	0.946
Q89.4 Conjoined twins	0.054	0.946
Q89.3 Situs inversus	0.054	0.946
Q89.1 Congenital malformations of adrenal gland	0.054	0.946
Q89.0 Congenital malformations of spleen	0.054	0.946
Q45 Other congenital malformations of digestive system	0.053	0.946
Q42 Congenital absence, atresia and stenosis of large intestine	0.053	0.946
Q41 Congenital absence, atresia and stenosis of small intestine	0.053	0.946
Q40 Other congenital malformations of upper alimentary tract	0.053	0.946
Q78 Other osteochondrodysplasias	0.053	0.947
Q77 Osteochondrodysplasia with defects of growth of tubular bones and spine	0.053	0.947
Q75 Other congenital malformations of skull and face bones	0.053	0.947
Q74 Other congenital malformations of limb(s)	0.053	0.947
Q73 Reduction defects of unspecified limb	0.053	0.947
Q72 Reduction defects of lower limb	0.053	0.947
Q71 Reduction defects of upper limb	0.053	0.947
Q70 Syndactyly	0.053	0.947
Q69 Polydactyly	0.053	0.947
Q68 Other congenital musculoskeletal deformities	0.053	0.947
Q67 Congenital musculoskeletal deformities of head, face, spine and chest	0.053	0.947
Q25.9 Congenital malformation of great arteries, unspecified	0.053	0.947
Q25.8 Other congenital malformations of great arteries	0.053	0.947
Q25.7 Other congenital malformations of pulmonary artery	0.053	0.947
Q25.5 Atresia of pulmonary artery	0.053	0.947
Q25.4 Other congenital malformations of aorta	0.053	0.947
Q25.3 Stenosis of aorta	0.053	0.947
Q25.2 Atresia of aorta	0.053	0.947
Q25.0 Patent ductus arteriosus	0.053	0.947
Q53 Undescended testicle	0.053	0.947
Q64 Other congenital malformations of urinary system	0.053	0.947
Q24 Other congenital malformations of heart	0.052	0.947
Q07 Other congenital malformations of nervous system	0.052	0.948
Q28 Other congenital malformations of circulatory system	0.052	0.948
Q39.6 Diverticulum of oesophagus	0.051	0.949
Q87.4 Marfan's syndrome	0.051	0.949
Q85.8 Other phakomatoses, not elsewhere classified	0.051	0.949
Q85.1 Tuberous sclerosis	0.051	0.949
Q44 Congenital malformations of gallbladder, bile ducts and liver	0.051	0.949
Q87.8 Other specified congenital malformation syndromes, not elsewhere classified	0.051	0.949
Q87.5 Other congenital malformation syndromes with other skeletal changes	0.051	0.949
Q87.3 Congenital malformation syndromes involving early overgrowth	0.051	0.949
Q87.2 Congenital malformation syndromes predominantly involving limbs	0.051	0.949
Q87.1 Congenital malformation syndromes predominantly associated with short stature	0.051	0.949
Q83.9 Congenital malformation of breast, unspecified	0.050	0.950
Q83.3 Accessory nipple	0.050	0.950
Q83.2 Absent nipple	0.050	0.950
Q83.1 Accessory breast	0.050	0.950
Q83.0 Congenital absence of breast with absent nipple	0.050	0.950
Q43.0 Meckel's diverticulum	0.050	0.950
Q56 Indeterminate sex and pseudohermaphroditism	0.050	0.950
Q55 Other congenital malformations of male genital organs	0.050	0.950
Q52 Other congenital malformations of female genitalia	0.050	0.950
Q05.8 Sacral spina bifida without hydrocephalus	0.050	0.950
Q05.7 Lumbar spina bifida without hydrocephalus	0.050	0.950
Q05.6 Thoracic spina bifida without hydrocephalus	0.050	0.950
Q05.5 Cervical spina bifida without hydrocephalus	0.050	0.950
Q05.3 Sacral spina bifida with hydrocephalus	0.050	0.950
Q05.2 Lumbar spina bifida with hydrocephalus	0.050	0.950
Q05.1 Thoracic spina bifida with hydrocephalus	0.050	0.950
Q05.0 Cervical spina bifida with hydrocephalus	0.050	0.950
Q85.9 Phakomatosis, unspecified	0.049	0.951
Q43.8 Other specified congenital malformations of intestine	0.049	0.951
Q51 Congenital malformations of uterus and cervix	0.048	0.952
Q66.9 Congenital deformity of feet, unspecified	0.048	0.952
Q66.7 Pes cavus	0.048	0.952
Q66.6 Other congenital valgus deformities of feet	0.048	0.952
Q66.5 Congenital pes planus	0.048	0.952
Q66.4 Talipes calcaneovalgus	0.048	0.952
Q66.2 Metatarsus varus	0.048	0.952
Q66.1 Talipes calcaneovarus	0.048	0.952
Q66.0 Talipes equinovarus	0.048	0.952
Q60 Renal agenesis and other reduction defects of kidney	0.048	0.952
Q90.9 Down's syndrome, unspecified	0.048	0.952
Q62 Congenital obstructive defects of renal pelvis and congenital malformations of ureter	0.048	0.952
Q38 Other congenital malformations of tongue, mouth and pharynx	0.047	0.953
Q50.4 Embryonic cyst of Fallopian tube	0.047	0.953
Q34 Other congenital malformations of respiratory system	0.046	0.953
Q33 Congenital malformations of lung	0.046	0.953
Q32 Congenital malformations of trachea and bronchus	0.046	0.953
Q31 Congenital malformations of larynx	0.046	0.953
Q30 Congenital malformations of nose	0.046	0.953
Q37 Cleft palate with cleft lip	0.046	0.953
Q36 Cleft lip	0.046	0.953
Q35 Cleft palate	0.046	0.953
Q54 Hypospadias	0.046	0.953
Q17 Other congenital malformations of ear	0.046	0.954
Q16 Congenital malformations of ear causing impairment of hearing	0.046	0.954
Q15 Other congenital malformations of eye	0.046	0.954
Q14 Congenital malformations of posterior segment of eye	0.046	0.954
Q13 Congenital malformations of anterior segment of eye	0.046	0.954
Q11 Anophthalmos, microphthalmos and macrophthalmos	0.046	0.954
Q10 Congenital malformations of eyelid, lachrymal apparatus and orbit	0.046	0.954
Q12 Congenital lens malformations	0.046	0.954
Q39.4 Oesophageal web	0.046	0.954
Q18 Other congenital malformations of face and neck	0.046	0.954
Q23.1 Congenital insufficiency of aortic valve	0.046	0.954
Q23.9 Congenital malformation of aortic and mitral valves, unspecified	0.046	0.954
Q23.8 Other congenital malformations of aortic and mitral valves	0.046	0.954
Q23.4 Hypoplastic left heart syndrome	0.046	0.954
Q23.3 Congenital mitral insufficiency	0.046	0.954
Q23.2 Congenital mitral stenosis	0.046	0.954
Q23.0 Congenital stenosis of aortic valve	0.046	0.954
Q98.9 Sex chromosome abnormality, male phenotype, unspecified	0.046	0.954
Q98.8 Other specified sex chromosome abnormalities, male phenotype	0.046	0.954
Q98.7 Male with sex chromosome mosaicism	0.046	0.954
Q98.6 Male with structurally abnormal sex chromosome	0.046	0.954
Q98.5 Karyotype 47,XYY	0.046	0.954
Q98.3 Other male with 46,XX karyotype	0.046	0.954
Q98.2 Klinefelter's syndrome, male with 46,XX karyotype	0.046	0.954
Q98.1 Klinefelter's syndrome, male with more than two X chromosomes	0.046	0.954
Q98.0 Klinefelter's syndrome karyotype 47,XXY	0.046	0.954
Q20.9 Congenital malformation of cardiac chambers and connexions, unspecified	0.045	0.954
Q20.8 Other congenital malformations of cardiac chambers and connexions	0.045	0.954
Q20.6 Isomerism of atrial appendages	0.045	0.954
Q20.5 Discordant atrioventricular connexion	0.045	0.954
Q20.4 Double inlet ventricle	0.045	0.954
Q20.3 Discordant ventriculoarterial connexion	0.045	0.954
Q20.2 Double outlet left ventricle	0.045	0.954
Q20.1 Double outlet right ventricle	0.045	0.954
Q20.0 Common arterial trunk	0.045	0.954
Q22.9 Congenital malformation of tricuspid valve, unspecified	0.045	0.954
Q22.8 Other congenital malformations of tricuspid valve	0.045	0.954
Q22.6 Hypoplastic right heart syndrome	0.045	0.954
Q22.5 Ebstein's anomaly	0.045	0.954
Q22.4 Congenital tricuspid stenosis	0.045	0.954
Q22.3 Other congenital malformations of pulmonary valve	0.045	0.954
Q22.2 Congenital pulmonary valve insufficiency	0.045	0.954
Q22.1 Congenital pulmonary valve stenosis	0.045	0.954
Q22.0 Pulmonary valve atresia	0.045	0.954
Q26.9 Congenital malformation of great vein, unspecified	0.045	0.954
Q26.8 Other congenital malformations of great veins	0.045	0.954
Q26.6 Portal vein-hepatic artery fistula	0.045	0.954
Q26.5 Anomalous portal venous connexion	0.045	0.954
Q26.4 Anomalous pulmonary venous connexion, unspecified	0.045	0.954
Q26.3 Partial anomalous pulmonary venous connexion	0.045	0.954
Q26.2 Total anomalous pulmonary venous connexion	0.045	0.954
Q26.1 Persistent left superior vena cava	0.045	0.954
Q26.0 Congenital stenosis of vena cava	0.045	0.954
Q80.9 Congenital ichthyosis, unspecified	0.045	0.954
Q80.8 Other congenital ichthyosis	0.045	0.954
Q80.4 Harlequin foetus	0.045	0.954
Q80.3 Congenital bullous ichthyosiform erythroderma	0.045	0.954
Q80.2 Lamellar ichthyosis	0.045	0.954
Q80.1 X-linked ichthyosis	0.045	0.954
Q80.0 Ichthyosis vulgaris	0.045	0.954
Q81.9 Epidermolysis bullosa, unspecified	0.045	0.954
Q81.8 Other epidermolysis bullosa	0.045	0.954
Q81.2 Epidermolysis bullosa dystrophica	0.045	0.954
Q81.1 Epidermolysis bullosa letalis	0.045	0.954
Q81.0 Epidermolysis bullosa simplex	0.045	0.954
Q84.9 Congenital malformation of integument, unspecified	0.045	0.954
Q84.8 Other specified congenital malformations of integument	0.045	0.954
Q84.6 Other congenital malformations of nails	0.045	0.954
Q84.5 Enlarged and hypertrophic nails	0.045	0.954
Q84.4 Congenital leukonychia	0.045	0.954
Q84.3 Anonychia	0.045	0.954
Q84.2 Other congenital malformations of hair	0.045	0.954
Q84.1 Congenital morphological disturbances of hair, not elsewhere classified	0.045	0.954
Q84.0 Congenital alopecia	0.045	0.954
Q86.8 Other congenital malformation syndromes due to known exogenous causes	0.045	0.954
Q86.2 Dysmorphism due to warfarin	0.045	0.954
Q86.1 Foetal hydantoin syndrome	0.045	0.954
Q86.0 Foetal alcohol syndrome (dysmorphic)	0.045	0.954
Q61 Cystic kidney disease	0.046	0.954
Q79 Congenital malformations of musculoskeletal system, not elsewhere classified	0.045	0.955
Q65.8 Other congenital deformities of hip	0.045	0.955
Q43.9 Congenital malformation of intestine, unspecified	0.045	0.955
Q43.7 Persistent cloaca	0.045	0.955
Q43.6 Congenital fistula of rectum and anus	0.045	0.955
Q43.5 Ectopic anus	0.045	0.955
Q43.4 Duplication of intestine	0.045	0.955
Q43.3 Congenital malformations of intestinal fixation	0.045	0.955
Q43.2 Other congenital functional disorders of colon	0.045	0.955
Q43.1 Hirschsprung's disease	0.045	0.955
Q63 Other congenital malformations of kidney	0.045	0.955
Q39.9 Congenital malformation of oesophagus, unspecified	0.044	0.955
Q39.8 Other congenital malformations of oesophagus	0.044	0.955
Q39.5 Congenital dilatation of oesophagus	0.044	0.955
Q39.3 Congenital stenosis and stricture of oesophagus	0.044	0.955
Q39.2 Congenital tracheooesophageal fistula without atresia	0.044	0.955
Q39.1 Atresia of oesophagus with tracheooesophageal fistula	0.044	0.955
Q39.0 Atresia of oesophagus without fistula	0.044	0.955
Q76 Congenital malformations of spine and bony thorax	0.044	0.956
Q64.3 Other atresia and stenosis of urethra and bladder neck	0.043	0.957
Q90.2 Trisomy 21, translocation	0.043	0.957
Q90.1 Trisomy 21, mosaicism (mitotic nondisjunction)	0.043	0.957
Q90.0 Trisomy 21, meiotic nondisjunction	0.043	0.957
Q65.9 Congenital deformity of hip, unspecified	0.041	0.959
Q65.6 Unstable hip	0.041	0.959
Q65.5 Congenital subluxation of hip, unspecified	0.041	0.959
Q65.4 Congenital subluxation of hip, bilateral	0.041	0.959
Q65.3 Congenital subluxation of hip, unilateral	0.041	0.959
Q65.2 Congenital dislocation of hip, unspecified	0.041	0.959
Q65.1 Congenital dislocation of hip, bilateral	0.041	0.959
Q65.0 Congenital dislocation of hip, unilateral	0.041	0.959
Q53.1 Undescended testicle, unilateral	0.041	0.959
Q50.6 Other congenital malformatons of Fallopian tube and broad ligament	0.041	0.959
Q50.5 Embryonic cyst of broad ligament	0.041	0.959
Q50.3 Other congenital malformations of ovary	0.041	0.959
Q50.2 Congenital torsion of ovary	0.041	0.959
Q50.1 Developmental ovarian cyst	0.041	0.959
Q50.0 Congenital absence of ovary	0.041	0.959
Q27.9 Congenital malformation of peripheral vascular system, unspecified	0.040	0.959
Q27.8 Other specified congenital malformations of peripheral vascular system	0.040	0.959
Q27.4 Congenital phlebectasia	0.040	0.959
Q27.2 Other congenital malformations of renal artery	0.040	0.959
Q27.1 Congenital renal artery stenosis	0.040	0.959
Q27.0 Congenital absence and hypoplasia of umbilical artery	0.040	0.959
Q00.2 Iniencephaly	0.040	0.960
Q00.1 Craniorachischisis	0.040	0.960
Q00.0 Anencephaly	0.040	0.960
Q01.9 Encephalocele, unspecified	0.040	0.960
Q01.8 Encephalocele of other sites	0.040	0.960
Q01.2 Occipital encephalocele	0.040	0.960
Q01.1 Nasofrontal encephalocele	0.040	0.960
Q01.0 Frontal encephalocele	0.040	0.960
Q03.9 Congenital hydrocephalus, unspecified	0.040	0.960
Q03.8 Other congenital hydrocephalus	0.040	0.960
Q03.1 Atresia of foramina of Magendie and Luschka	0.040	0.960
Q03.0 Malformations of aqueduct of Sylvius	0.040	0.960
Q04.9 Congenital malformation of brain, unspecified	0.040	0.960
Q04.8 Other specified congenital malformations of brain	0.040	0.960
Q04.6 Congenital cerebral cysts	0.040	0.960
Q04.5 Megalencephaly	0.040	0.960
Q04.4 Septo-optic dysplasia	0.040	0.960
Q04.3 Other reduction deformities of brain	0.040	0.960
Q04.2 Holoprosencephaly	0.040	0.960
Q04.1 Arhinencephaly	0.040	0.960
Q04.0 Congenital malformations of corpus callosum	0.040	0.960
Q06.9 Congenital malformation of spinal cord, unspecified	0.040	0.960
Q06.8 Other specified congenital malformations of spinal cord	0.040	0.960
Q06.4 Hydromyelia	0.040	0.960
Q06.3 Other congenital cauda equina malformations	0.040	0.960
Q06.2 Diastematomyelia	0.040	0.960
Q06.1 Hypoplasia and dysplasia of spinal cord	0.040	0.960
Q06.0 Amyelia	0.040	0.960
Q91.7 Patau's syndrome, unspecified	0.039	0.960
Q91.6 Trisomy 13, translocation	0.039	0.960
Q91.5 Trisomy 13, mosaicism (mitotic nondisjunction)	0.039	0.960
Q91.4 Trisomy 13, meiotic nondisjunction	0.039	0.960
Q91.3 Edwards' syndrome, unspecified	0.039	0.960
Q91.2 Trisomy 18, translocation	0.039	0.960
Q91.1 Trisomy 18, mosaicism (mitotic nondisjunction)	0.039	0.960
Q91.0 Trisomy 18, meiotic nondisjunction	0.039	0.960
Q92.9 Trisomy and partial trisomy of autosomes, unspecified	0.039	0.960
Q92.8 Other specified trisomies and partial trisomies of autosomes	0.039	0.960
Q92.7 Triploidy and polyploidy	0.039	0.960
Q92.6 Extra marker chromosomes	0.039	0.960
Q92.5 Duplications with other complex rearrangements	0.039	0.960
Q92.4 Duplications seen only at prometaphase	0.039	0.960
Q92.3 Minor partial trisomy	0.039	0.960
Q92.2 Major partial trisomy	0.039	0.960
Q92.1 Whole chromosome trisomy, mosaicism (mitotic nondisjunction)	0.039	0.960
Q92.0 Whole chromosome trisomy, meiotic nondisjunction	0.039	0.960
Q93.9 Deletion from autosomes, unspecified	0.039	0.960
Q93.8 Other deletions from the autosomes	0.039	0.960
Q93.7 Deletions with other complex rearrangements	0.039	0.960
Q93.6 Deletions seen only at prometaphase	0.039	0.960
Q93.5 Other deletions of part of a chromosome	0.039	0.960
Q93.4 Deletion of short arm of chromosome 5	0.039	0.960
Q93.3 Deletion of short arm of chromosome 4	0.039	0.960
Q93.2 Chromosome replaced with ring or dicentric	0.039	0.960
Q93.1 Whole chromosome monosomy, mosaicism (mitotic nondisjunction)	0.039	0.960
Q93.0 Whole chromosome monosomy, meiotic nondisjunction	0.039	0.960
Q95.9 Balanced rearrangement and structural marker, unspecified	0.039	0.960
Q95.8 Other balanced rearrangements and structural markers	0.039	0.960
Q95.5 Individuals with autosomal fragile site	0.039	0.960
Q95.4 Individuals with marker heterochromatin	0.039	0.960
Q95.3 Balanced sex/autosomal rearrangement in abnormal individual	0.039	0.960
Q95.2 Balanced autosomal rearrangement in abnormal individual	0.039	0.960
Q95.1 Chromosome inversion in normal individual	0.039	0.960
Q95.0 Balanced translocation and insertion in normal individual	0.039	0.960
Q96.9 Turner's syndrome, unspecified	0.039	0.960
Q96.8 Other variants of Turner's syndrome	0.039	0.960
Q96.4 Mosaicism, 45,X/other cell line(s) with abnormal sex chromosome	0.039	0.960
Q96.3 Mosaicism, 45,X/46,XX or XY	0.039	0.960
Q96.2 Karyotype 46,X with abnormal sex chromosome, except iso (Xq)	0.039	0.960
Q96.1 Karyotype 46,X iso (Xq)	0.039	0.960
Q96.0 Karyotype 45,X	0.039	0.960
Q97.9 Sex chromosome abnormality, female phenotype, unspecified	0.039	0.960
Q97.8 Other specified sex chromosome abnormalities, female phenotype	0.039	0.960
Q97.3 Female with 46,XY karyotype	0.039	0.960
Q97.2 Mosaicism, lines with various numbers of X chromosomes	0.039	0.960
Q97.1 Female with more than three X chromosomes	0.039	0.960
Q97.0 Karyotype 47,XXX	0.039	0.960
Q99.9 Chromosomal abnormality, unspecified	0.039	0.960
Q99.8 Other specified chromosome abnormalities	0.039	0.960
Q99.2 Fragile X chromosome	0.039	0.960
Q99.1 46,XX true hermaphrodite	0.039	0.960
Q99.0 Chimera 46,XX/46,XY	0.039	0.960
Q40.9 Congenital malformation of upper alimentary tract, unspecified	0.038	0.961
Q40.8 Other specified congenital malformations of upper alimentary tract	0.038	0.961
Q40.3 Congenital malformation of stomach, unspecified	0.038	0.961
Q40.2 Other specified congenital malformations of stomach	0.038	0.961
Q40.1 Congenital hiatus hernia	0.038	0.961
Q40.0 Congenital hypertrophic pyloric stenosis	0.038	0.961
Q41.9 Congenital absence, atresia and stenosis of small intestine, part unspecified	0.038	0.961
Q41.8 Congenital absence, atresia and stenosis of other specified parts of small intestine	0.038	0.961
Q41.2 Congenital absence, atresia and stenosis of ileum	0.038	0.961
Q41.1 Congenital absence, atresia and stenosis of jejunum	0.038	0.961
Q41.0 Congenital absence, atresia and stenosis of duodenum	0.038	0.961
Q42.9 Congenital absence, atresia and stenosis of large intestine, part unspecified	0.038	0.961
Q42.8 Congenital absence, atresia and stenosis of other parts of large intestine	0.038	0.961
Q42.3 Congenital absence, atresia and stenosis of anus without fistula	0.038	0.961
Q42.2 Congenital absence, atresia and stenosis of anus with fistula	0.038	0.961
Q42.1 Congenital absence, atresia and stenosis of rectum without fistula	0.038	0.961
Q42.0 Congenital absence, atresia and stenosis of rectum with fistula	0.038	0.961
Q45.9 Congenital malformation of digestive system, unspecified	0.038	0.961
Q45.8 Other specified congenital malformations of digestive system	0.038	0.961
Q45.3 Other congenital malformations of pancreas and pancreatic duct	0.038	0.961
Q45.2 Congenital pancreatic cyst	0.038	0.961
Q45.1 Annular pancreas	0.038	0.961
Q45.0 Agenesis, aplasia and hypoplasia of pancreas	0.038	0.961
Q67.8 Other congenital deformities of chest	0.038	0.962
Q67.7 Pectus carinatum	0.038	0.962
Q67.6 Pectus excavatum	0.038	0.962
Q67.5 Congenital deformity of spine	0.038	0.962
Q67.4 Other congenital deformities of skull, face and jaw	0.038	0.962
Q67.3 Plagiocephaly	0.038	0.962
Q67.2 Dolichocephaly	0.038	0.962
Q67.1 Compression facies	0.038	0.962
Q67.0 Facial asymmetry	0.038	0.962
Q68.8 Other specified congenital musculoskeletal deformities	0.038	0.962
Q68.5 Congenital bowing of long bones of leg, unspecified	0.038	0.962
Q68.4 Congenital bowing of tibia and fibula	0.038	0.962
Q68.3 Congenital bowing of femur	0.038	0.962
Q68.2 Congenital deformity of knee	0.038	0.962
Q68.1 Congenital deformity of hand	0.038	0.962
Q68.0 Congenital deformity of sternocleidomastoid muscle	0.038	0.962
Q69.9 Polydactyly, unspecified	0.038	0.962
Q69.2 Accessory toe(s)	0.038	0.962
Q69.1 Accessory thumb(s)	0.038	0.962
Q69.0 Accessory finger(s)	0.038	0.962
Q70.9 Syndactyly, unspecified	0.038	0.962
Q70.4 Polysyndactyly	0.038	0.962
Q70.3 Webbed toes	0.038	0.962
Q70.2 Fused toes	0.038	0.962
Q70.1 Webbed fingers	0.038	0.962
Q70.0 Fused fingers	0.038	0.962
Q71.9 Reduction defect of upper limb, unspecified	0.038	0.962
Q71.8 Other reduction defects of upper limb(s)	0.038	0.962
Q71.6 Lobster-claw hand	0.038	0.962
Q71.5 Longitudinal reduction defect of ulna	0.038	0.962
Q71.4 Longitudinal reduction defect of radius	0.038	0.962
Q71.3 Congenital absence of hand and finger(s)	0.038	0.962
Q71.2 Congenital absence of both forearm and hand	0.038	0.962
Q71.1 Congenital absence of upper arm and forearm with hand present	0.038	0.962
Q71.0 Congenital complete absence of upper limb(s)	0.038	0.962
Q72.9 Reduction defect of lower limb, unspecified	0.038	0.962
Q72.8 Other reduction defects of lower limb(s)	0.038	0.962
Q72.7 Split foot	0.038	0.962
Q72.6 Longitudinal reduction defect of fibula	0.038	0.962
Q72.5 Longitudinal reduction defect of tibia	0.038	0.962
Q72.4 Longitudinal reduction defect of femur	0.038	0.962
Q72.3 Congenital absence of foot and toe(s)	0.038	0.962
Q72.2 Congenital absence of both lower leg and foot	0.038	0.962
Q72.1 Congenital absence of thigh and lower leg with foot present	0.038	0.962
Q72.0 Congenital complete absence of lower limb(s)	0.038	0.962
Q73.8 Other reduction defects of unspecified limb(s)	0.038	0.962
Q73.1 Phocomelia, unspecified limb(s)	0.038	0.962
Q73.0 Congenital absence of unspecified limb(s)	0.038	0.962
Q74.9 Unspecified congenital malformation of limb(s)	0.038	0.962
Q74.8 Other specified congenital malformations of limb(s)	0.038	0.962
Q74.3 Arthrogryposis multiplex congenita	0.038	0.962
Q74.2 Other congenital malformations of lower limb(s), including pelvic girdle	0.038	0.962
Q74.1 Congenital malformation of knee	0.038	0.962
Q74.0 Other congenital malformations of upper limb(s), including shoulder girdle	0.038	0.962
Q75.9 Congenital malformation of skull and face bones, unspecified	0.038	0.962
Q75.8 Other specified congenital malformations of skull and face bones	0.038	0.962
Q75.5 Oculomandibular dysostosis	0.038	0.962
Q75.4 Mandibulofacial dysostosis	0.038	0.962
Q75.3 Macrocephaly	0.038	0.962
Q75.2 Hypertelorism	0.038	0.962
Q75.1 Craniofacial dysostosis	0.038	0.962
Q75.0 Craniosynostosis	0.038	0.962
Q77.9 Osteochondrodysplasia with defects of growth of tubular bones and spine, unspecified	0.038	0.962
Q77.8 Other osteochondrodysplasia with defects of growth of tubular bones and spine	0.038	0.962
Q77.7 Spondyloepiphyseal dysplasia	0.038	0.962
Q77.6 Chondroectodermal dysplasia	0.038	0.962
Q77.5 Diastrophic dysplasia	0.038	0.962
Q77.4 Achondroplasia	0.038	0.962
Q77.3 Chondrodysplasia punctata	0.038	0.962
Q77.2 Short rib syndrome	0.038	0.962
Q77.1 Thanatophoric short stature	0.038	0.962
Q77.0 Achondrogenesis	0.038	0.962
Q78.9 Osteochondrodysplasia, unspecified	0.038	0.962
Q78.8 Other specified osteochondrodysplasias	0.038	0.962
Q78.6 Multiple congenital exostoses	0.038	0.962
Q78.5 Metaphyseal dysplasia	0.038	0.962
Q78.4 Enchondromatosis	0.038	0.962
Q78.3 Progressive diaphyseal dysplasia	0.038	0.962
Q78.2 Osteopetrosis	0.038	0.962
Q78.1 Polyostotic fibrous dysplasia	0.038	0.962
Q78.0 Osteogenesis imperfecta	0.038	0.962
Q53.9 Undescended testicle, unspecified	0.038	0.962
Q53.2 Undescended testicle, bilateral	0.038	0.962
Q53.0 Ectopic testis	0.038	0.962
Q64.9 Congenital malformation of urinary system, unspecified	0.038	0.962
Q64.8 Other specified congenital malformations of urinary system	0.038	0.962
Q64.7 Other congenital malformations of bladder and urethra	0.038	0.962
Q64.6 Congenital diverticulum of bladder	0.038	0.962
Q64.5 Congenital absence of bladder and urethra	0.038	0.962
Q64.4 Malformation of urachus	0.038	0.962
Q64.2 Congenital posterior urethral valves	0.038	0.962
Q64.1 Exstrophy of urinary bladder	0.038	0.962
Q64.0 Epispadias	0.038	0.962
Q24.6 Congenital heart block	0.038	0.962
Q24.5 Malformation of coronary vessels	0.038	0.962
Q24.4 Congenital subaortic stenosis	0.038	0.962
Q24.3 Pulmonary infundibular stenosis	0.038	0.962
Q24.2 Cor triatriatum	0.038	0.962
Q24.1 Levocardia	0.038	0.962
Q24.0 Dextrocardia	0.038	0.962
Q07.9 Congenital malformation of nervous system, unspecified	0.037	0.962
Q07.8 Other specified congenital malformations of nervous system	0.037	0.962
Q28.9 Congenital malformation of circulatory system, unspecified	0.037	0.962
Q28.8 Other specified congenital malformations of circulatory system	0.037	0.962
Q28.3 Other malformations of cerebral vessels	0.037	0.962
Q28.1 Other malformations of precerebral vessels	0.037	0.962
Q28.0 Arteriovenous malformation of precerebral vessels	0.037	0.962
K91.3 Postoperative intestinal obstruction	0.037	0.963
K91 Postprocedural disorders of digestive system, not elsewhere classified	0.037	0.963
Q44.7 Other congenital malformations of liver	0.037	0.963

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