TreeWAS – Variant ID: rs13257518

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
E11.3 With ophthalmic complications	0.023	0.977	0.000
H36.0 Diabetic retinopathy	0.023	0.977	0.000
O99.8 Other specified diseases and conditions complicating pregnancy, childbirth and the puerperium	0.000	0.978	0.022
Z13.9 Special screening examination, unspecified	0.000	0.981	0.019
O99 Other maternal diseases classifiable elsewhere but complicating pregnancy, childbirth and the puerperium	0.000	0.982	0.018
O99.6 Diseases of the digestive system complicating pregnancy, childbirth and the puerperium	0.000	0.983	0.017
O99.1 Other diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism complicating pregnancy, childbirth and the puerperium	0.000	0.984	0.016
O99.2 Endocrine, nutritional and metabolic diseases complicating pregnancy, childbirth and the puerperium	0.000	0.984	0.016
O99.7 Diseases of the skin and subcutaneous tissue complicating pregnancy, childbirth and the puerperium	0.000	0.986	0.014
O99.4 Diseases of the circulatory system complicating pregnancy, childbirth and the puerperium	0.000	0.986	0.014
K05.3 Chronic periodontitis	0.013	0.987	0.000
Q39.4 Oesophageal web	0.012	0.988	0.000
O99.5 Diseases of the respiratory system complicating pregnancy, childbirth and the puerperium	0.000	0.988	0.012
Q39 Congenital malformations of oesophagus	0.011	0.989	0.000
O99.3 Mental disorders and diseases of the nervous system complicating pregnancy, childbirth and the puerperium	0.000	0.989	0.011
Q43 Other congenital malformations of intestine	0.011	0.989	0.000
Q38-Q45 Other congenital malformations of the digestive system	0.011	0.989	0.000
Q43.8 Other specified congenital malformations of intestine	0.011	0.989	0.000
H36 Retinal disorders in diseases classified elsewhere	0.010	0.989	0.000
Q40 Other congenital malformations of upper alimentary tract	0.010	0.990	0.000
Q43.3 Congenital malformations of intestinal fixation	0.010	0.990	0.000
Q43.1 Hirschsprung's disease	0.009	0.991	0.000
Q43.9 Congenital malformation of intestine, unspecified	0.009	0.991	0.000
Q40.8 Other specified congenital malformations of upper alimentary tract	0.009	0.991	0.000
Q39.6 Diverticulum of oesophagus	0.009	0.991	0.000
Q45 Other congenital malformations of digestive system	0.008	0.991	0.000
Q39.9 Congenital malformation of oesophagus, unspecified	0.008	0.992	0.000
Q39.8 Other congenital malformations of oesophagus	0.008	0.992	0.000
Q39.5 Congenital dilatation of oesophagus	0.008	0.992	0.000
Q39.3 Congenital stenosis and stricture of oesophagus	0.008	0.992	0.000
Q39.2 Congenital tracheooesophageal fistula without atresia	0.008	0.992	0.000
Q39.1 Atresia of oesophagus with tracheooesophageal fistula	0.008	0.992	0.000
Q39.0 Atresia of oesophagus without fistula	0.008	0.992	0.000
E11 Non-insulin-dependent diabetes mellitus	0.008	0.992	0.000
Q43.7 Persistent cloaca	0.008	0.992	0.000
Q43.6 Congenital fistula of rectum and anus	0.008	0.992	0.000
Q43.5 Ectopic anus	0.008	0.992	0.000
Q43.4 Duplication of intestine	0.008	0.992	0.000
Q43.2 Other congenital functional disorders of colon	0.008	0.992	0.000
Q42 Congenital absence, atresia and stenosis of large intestine	0.008	0.992	0.000
Q41 Congenital absence, atresia and stenosis of small intestine	0.008	0.992	0.000
E11.2 With renal complications	0.008	0.992	0.000
Q38 Other congenital malformations of tongue, mouth and pharynx	0.008	0.992	0.000
Q40.2 Other specified congenital malformations of stomach	0.008	0.992	0.000
N31.9 Neuromuscular dysfunction of bladder, unspecified	0.008	0.992	0.000
H36.8 Other retinal disorders in diseases classified elsewhere	0.008	0.992	0.000
O94-O99 Other obstetric conditions, not elsewhere classified	0.000	0.992	0.008
Q44 Congenital malformations of gallbladder, bile ducts and liver	0.007	0.992	0.000
Q43.0 Meckel's diverticulum	0.007	0.993	0.000
Q40.9 Congenital malformation of upper alimentary tract, unspecified	0.007	0.993	0.000
Q40.3 Congenital malformation of stomach, unspecified	0.007	0.993	0.000
Q40.1 Congenital hiatus hernia	0.007	0.993	0.000
Q40.0 Congenital hypertrophic pyloric stenosis	0.007	0.993	0.000
O99.0 Anaemia complicating pregnancy, childbirth and the puerperium	0.000	0.993	0.007
E11.6 With other specified complications	0.007	0.993	0.000
E11.5 With peripheral circulatory complications	0.007	0.993	0.000
E11.4 With neurological complications	0.007	0.993	0.000
Q45.8 Other specified congenital malformations of digestive system	0.007	0.993	0.000
Q85.0 Neurofibromatosis (nonmalignant)	0.006	0.993	0.000
Q45.9 Congenital malformation of digestive system, unspecified	0.006	0.994	0.000
Q45.3 Other congenital malformations of pancreas and pancreatic duct	0.006	0.994	0.000
Q45.2 Congenital pancreatic cyst	0.006	0.994	0.000
Q45.1 Annular pancreas	0.006	0.994	0.000
Q45.0 Agenesis, aplasia and hypoplasia of pancreas	0.006	0.994	0.000
K05 Gingivitis and periodontal diseases	0.006	0.994	0.000
E11.7 With multiple complications	0.006	0.994	0.000
E11.1 With ketoacidosis	0.006	0.994	0.000
Q41.9 Congenital absence, atresia and stenosis of small intestine, part unspecified	0.006	0.994	0.000
Q41.8 Congenital absence, atresia and stenosis of other specified parts of small intestine	0.006	0.994	0.000
Q41.2 Congenital absence, atresia and stenosis of ileum	0.006	0.994	0.000
Q41.1 Congenital absence, atresia and stenosis of jejunum	0.006	0.994	0.000
Q41.0 Congenital absence, atresia and stenosis of duodenum	0.006	0.994	0.000
Q42.9 Congenital absence, atresia and stenosis of large intestine, part unspecified	0.006	0.994	0.000
Q42.8 Congenital absence, atresia and stenosis of other parts of large intestine	0.006	0.994	0.000
Q42.3 Congenital absence, atresia and stenosis of anus without fistula	0.006	0.994	0.000
Q42.2 Congenital absence, atresia and stenosis of anus with fistula	0.006	0.994	0.000
Q42.1 Congenital absence, atresia and stenosis of rectum without fistula	0.006	0.994	0.000
Q42.0 Congenital absence, atresia and stenosis of rectum with fistula	0.006	0.994	0.000
O20.0 Threatened abortion	0.006	0.994	0.000
Q38.8 Other congenital malformations of pharynx	0.006	0.994	0.000
Q38.6 Other congenital malformations of mouth	0.006	0.994	0.000
Q38.5 Congenital malformations of palate, not elsewhere classified	0.006	0.994	0.000
Q38.4 Congenital malformations of salivary glands and ducts	0.006	0.994	0.000
Q38.3 Other congenital malformations of tongue	0.006	0.994	0.000
Q38.2 Macroglossia	0.006	0.994	0.000
Q38.1 Ankyloglossia	0.006	0.994	0.000
Q38.0 Congenital malformations of lips, not elsewhere classified	0.006	0.994	0.000
Q38.7 Pharyngeal pouch	0.006	0.994	0.000
K05.1 Chronic gingivitis	0.006	0.994	0.000
K86.0 Alcohol-induced chronic pancreatitis	0.006	0.994	0.000
O97 Death from sequelae of direct obstetric causes	0.000	0.994	0.006
O96 Death from any obstetric cause occurring more than 42 days but less than one year after delivery	0.000	0.994	0.006
O95 Obstetric death of unspecified cause	0.000	0.994	0.006
O94 Sequelae of complication of pregnancy, childbirth and the puerperium	0.000	0.994	0.006
Q44.7 Other congenital malformations of liver	0.005	0.994	0.000
Q44.5 Other congenital malformations of bile ducts	0.005	0.994	0.000
Q44.4 Choledochal cyst	0.005	0.994	0.000
Q44.3 Congenital stenosis and stricture of bile ducts	0.005	0.994	0.000
Q44.2 Atresia of bile ducts	0.005	0.994	0.000
Q44.1 Other congenital malformations of gallbladder	0.005	0.994	0.000
Q44.0 Agenesis, aplasia and hypoplasia of gallbladder	0.005	0.994	0.000
O98 Maternal infectious and parasitic diseases classifiable elsewhere but complicating pregnancy, childbirth and the puerperium	0.000	0.994	0.006
Q85 Phakomatoses, not elsewhere classified	0.005	0.995	0.000
Chapter XVII Congenital malformations, deformations and chromosomal abnormalities	0.005	0.995	0.000
Q80-Q89 Other congenital malformations	0.005	0.995	0.000
Q44.6 Cystic disease of liver	0.005	0.995	0.000
K05.2 Acute periodontitis	0.005	0.995	0.000
K05.5 Other periodontal diseases	0.005	0.995	0.000
K05.4 Periodontosis	0.005	0.995	0.000
K05.0 Acute gingivitis	0.005	0.995	0.000
E11.8 With unspecified complications	0.004	0.995	0.000
Q10-Q18 Congenital malformations of eye, ear, face and neck	0.005	0.995	0.000
O96.9 Death from unspecified obstetric cause	0.000	0.996	0.004
O96.1 Death from indirect obstetric cause	0.000	0.996	0.004
O96.0 Death from direct obstetric cause	0.000	0.996	0.004
O97.9 Death from sequelae of obstetric cause, unspecified	0.000	0.996	0.004
O97.1 Death from sequelae of indirect obstetric cause	0.000	0.996	0.004
O97.0 Death from sequelae of direct obstetric cause	0.000	0.996	0.004
O98.9 Unspecified maternal infectious or parasitic disease complicating pregnancy, childbirth and the puerperium	0.000	0.996	0.004
O98.7 Human immunodeficiency [HIV] disease complicating pregnancy, childbirth and the puerperium	0.000	0.996	0.004
O98.6 Protozoal diseases complicating pregnancy, childbirth and the puerperium	0.000	0.996	0.004
O98.5 Other viral diseases complicating pregnancy, childbirth and the puerperium	0.000	0.996	0.004
O98.4 Viral hepatitis complicating pregnancy, childbirth and the puerperium	0.000	0.996	0.004
O98.3 Other infections with a predominantly sexual mode of transmission complicating pregnancy, childbirth and the puerperium	0.000	0.996	0.004
O98.2 Gonorrhoea complicating pregnancy, childbirth and the puerperium	0.000	0.996	0.004
O98.1 Syphilis complicating pregnancy, childbirth and the puerperium	0.000	0.996	0.004
O98.0 Tuberculosis complicating pregnancy, childbirth and the puerperium	0.000	0.996	0.004
O98.8 Other maternal infectious and parasitic diseases complicating pregnancy, childbirth and the puerperium	0.000	0.996	0.004
Q85.8 Other phakomatoses, not elsewhere classified	0.004	0.996	0.000
Q87 Other specified congenital malformation syndromes affecting multiple systems	0.004	0.996	0.000
Q90-Q99 Chromosomal abnormalities, not elsewhere classified	0.004	0.996	0.000
Q85.1 Tuberous sclerosis	0.004	0.996	0.000
Q35-Q37 Cleft lip and cleft palate	0.004	0.996	0.000
Q30-Q34 Congenital malformations of the respiratory system	0.004	0.996	0.000
D37.1 Stomach	0.004	0.996	0.000
Q50-Q56 Congenital malformations of genital organs	0.004	0.996	0.000
K63.1 Perforation of intestine (nontraumatic)	0.004	0.996	0.000
M25.51 Pain in joint (Shoulder region)	0.004	0.996	0.000
Q15 Other congenital malformations of eye	0.004	0.996	0.000
Z11.0 Special screening examination for intestinal infectious diseases	0.004	0.996	0.000
Q65-Q79 Congenital malformations and deformations of the musculoskeletal system	0.004	0.996	0.000
Q00-Q07 Congenital malformations of the nervous system	0.004	0.996	0.000
K80.0 Calculus of gallbladder with acute cholecystitis	0.004	0.996	0.000
Q87.4 Marfan's syndrome	0.004	0.996	0.000
Q86 Congenital malformation syndromes due to known exogenous causes, not elsewhere classified	0.004	0.996	0.000
Q84 Other congenital malformations of integument	0.004	0.996	0.000
Q81 Epidermolysis bullosa	0.004	0.996	0.000
Q80 Congenital ichthyosis	0.004	0.996	0.000
S00.9 Superficial injury of head, part unspecified	0.004	0.996	0.000
K86 Other diseases of pancreas	0.004	0.996	0.000
I24.9 Acute ischaemic heart disease, unspecified	0.004	0.996	0.000
Q60-Q64 Congenital malformations of the urinary system	0.004	0.996	0.000
K05.22 Aggressive periodontitis, generalized	0.004	0.996	0.000
Q18 Other congenital malformations of face and neck	0.004	0.996	0.000
K86.2 Cyst of pancreas	0.004	0.996	0.000
K86.9 Disease of pancreas, unspecified	0.004	0.996	0.000
Q15.0 Congenital glaucoma	0.004	0.996	0.000
D37.7 Other digestive organs	0.004	0.996	0.000
E11.0 With coma	0.003	0.996	0.001
Q17 Other congenital malformations of ear	0.003	0.996	0.000
Q83 Congenital malformations of breast	0.003	0.996	0.000
Q16 Congenital malformations of ear causing impairment of hearing	0.003	0.996	0.000
Q14 Congenital malformations of posterior segment of eye	0.003	0.996	0.000
Q13 Congenital malformations of anterior segment of eye	0.003	0.996	0.000
Q11 Anophthalmos, microphthalmos and macrophthalmos	0.003	0.996	0.000
Q54 Hypospadias	0.003	0.996	0.000
Q82 Other congenital malformations of skin	0.003	0.996	0.000
Q85.9 Phakomatosis, unspecified	0.003	0.996	0.000
Q10 Congenital malformations of eyelid, lachrymal apparatus and orbit	0.003	0.997	0.000
Q98 Other sex chromosome abnormalities, male phenotype, not elsewhere classified	0.003	0.997	0.000
Q52 Other congenital malformations of female genitalia	0.003	0.997	0.000
K05.6 Periodontal disease, unspecified	0.003	0.997	0.000
Q55 Other congenital malformations of male genital organs	0.003	0.997	0.000
D37 Neoplasm of uncertain or unknown behaviour of oral cavity and digestive organs	0.003	0.997	0.000
Z11 Special screening examination for infectious and parasitic diseases	0.003	0.997	0.000
Q87.5 Other congenital malformation syndromes with other skeletal changes	0.003	0.997	0.000
Q87.3 Congenital malformation syndromes involving early overgrowth	0.003	0.997	0.000
Q87.2 Congenital malformation syndromes predominantly involving limbs	0.003	0.997	0.000
Q87.1 Congenital malformation syndromes predominantly associated with short stature	0.003	0.997	0.000
Q87.0 Congenital malformation syndromes predominantly affecting facial appearance	0.003	0.997	0.000
Q99 Other chromosome abnormalities, not elsewhere classified	0.003	0.997	0.000
Q97 Other sex chromosome abnormalities, female phenotype, not elsewhere classified	0.003	0.997	0.000
Q96 Turner's syndrome	0.003	0.997	0.000
Q95 Balanced rearrangements and structural markers, not elsewhere classified	0.003	0.997	0.000
Q93 Monosomies and deletions from the autosomes, not elsewhere classified	0.003	0.997	0.000
Q92 Other trisomies and partial trisomies of the autosomes, not elsewhere classified	0.003	0.997	0.000
Q91 Edwards' syndrome and Patau's syndrome	0.003	0.997	0.000
Q90 Down's syndrome	0.003	0.997	0.000
M13.97 Arthritis, unspecified (Ankle and foot)	0.000	0.997	0.003
Q89 Other congenital malformations, not elsewhere classified	0.003	0.997	0.000
Z11.2 Special screening examination for other bacterial diseases	0.003	0.997	0.000
Q53 Undescended testicle	0.003	0.997	0.000
Q34 Other congenital malformations of respiratory system	0.003	0.997	0.000
Q33 Congenital malformations of lung	0.003	0.997	0.000
Q32 Congenital malformations of trachea and bronchus	0.003	0.997	0.000
Q31 Congenital malformations of larynx	0.003	0.997	0.000
Q30 Congenital malformations of nose	0.003	0.997	0.000
Q37 Cleft palate with cleft lip	0.003	0.997	0.000
Q36 Cleft lip	0.003	0.997	0.000
Q35 Cleft palate	0.003	0.997	0.000
Q18.1 Preauricular sinus and cyst	0.003	0.997	0.000
Q54.0 Hypospadias, balanic	0.003	0.997	0.000
Q66 Congenital deformities of feet	0.003	0.997	0.000
Q12 Congenital lens malformations	0.003	0.997	0.000
Q56 Indeterminate sex and pseudohermaphroditism	0.003	0.997	0.000
D37.6 Liver, gallbladder and bile ducts	0.003	0.997	0.000
Q64 Other congenital malformations of urinary system	0.003	0.997	0.000
Q74 Other congenital malformations of limb(s)	0.003	0.997	0.000
Q15.9 Congenital malformation of eye, unspecified	0.003	0.997	0.000
Q15.8 Other specified congenital malformations of eye	0.003	0.997	0.000
Q05 Spina bifida	0.003	0.997	0.000
Q60 Renal agenesis and other reduction defects of kidney	0.003	0.997	0.000
D37.5 Rectum	0.003	0.997	0.000
Q06 Other congenital malformations of spinal cord	0.003	0.997	0.000
Q04 Other congenital malformations of brain	0.003	0.997	0.000
Q03 Congenital hydrocephalus	0.003	0.997	0.000
Q01 Encephalocele	0.003	0.997	0.000
Q00 Anencephaly and similar malformations	0.003	0.997	0.000
Q02 Microcephaly	0.003	0.997	0.000
Q77 Osteochondrodysplasia with defects of growth of tubular bones and spine	0.003	0.997	0.000
Q75 Other congenital malformations of skull and face bones	0.003	0.997	0.000
Q73 Reduction defects of unspecified limb	0.003	0.997	0.000
Q72 Reduction defects of lower limb	0.003	0.997	0.000
Q71 Reduction defects of upper limb	0.003	0.997	0.000
Q70 Syndactyly	0.003	0.997	0.000
Q69 Polydactyly	0.003	0.997	0.000
Q68 Other congenital musculoskeletal deformities	0.003	0.997	0.000
Q67 Congenital musculoskeletal deformities of head, face, spine and chest	0.003	0.997	0.000
K86.8 Other specified diseases of pancreas	0.003	0.997	0.000
Q61 Cystic kidney disease	0.003	0.997	0.000
Q80.9 Congenital ichthyosis, unspecified	0.003	0.997	0.000
Q80.8 Other congenital ichthyosis	0.003	0.997	0.000
Q80.4 Harlequin foetus	0.003	0.997	0.000
Q80.3 Congenital bullous ichthyosiform erythroderma	0.003	0.997	0.000
Q80.2 Lamellar ichthyosis	0.003	0.997	0.000
Q80.1 X-linked ichthyosis	0.003	0.997	0.000
Q80.0 Ichthyosis vulgaris	0.003	0.997	0.000
Q81.9 Epidermolysis bullosa, unspecified	0.003	0.997	0.000
Q81.8 Other epidermolysis bullosa	0.003	0.997	0.000
Q81.2 Epidermolysis bullosa dystrophica	0.003	0.997	0.000
Q81.1 Epidermolysis bullosa letalis	0.003	0.997	0.000
Q81.0 Epidermolysis bullosa simplex	0.003	0.997	0.000
Q82.2 Mastocytosis	0.003	0.997	0.000
Q84.9 Congenital malformation of integument, unspecified	0.003	0.997	0.000
Q84.8 Other specified congenital malformations of integument	0.003	0.997	0.000
Q84.6 Other congenital malformations of nails	0.003	0.997	0.000
Q84.5 Enlarged and hypertrophic nails	0.003	0.997	0.000
Q84.4 Congenital leukonychia	0.003	0.997	0.000
Q84.3 Anonychia	0.003	0.997	0.000
Q84.2 Other congenital malformations of hair	0.003	0.997	0.000
Q84.1 Congenital morphological disturbances of hair, not elsewhere classified	0.003	0.997	0.000
Q84.0 Congenital alopecia	0.003	0.997	0.000
Q86.8 Other congenital malformation syndromes due to known exogenous causes	0.003	0.997	0.000
Q86.2 Dysmorphism due to warfarin	0.003	0.997	0.000
Q86.1 Foetal hydantoin syndrome	0.003	0.997	0.000
Q86.0 Foetal alcohol syndrome (dysmorphic)	0.003	0.997	0.000
Q87.8 Other specified congenital malformation syndromes, not elsewhere classified	0.003	0.997	0.000
Q66.9 Congenital deformity of feet, unspecified	0.003	0.997	0.000
O20 Haemorrhage in early pregnancy	0.003	0.997	0.000
Q79 Congenital malformations of musculoskeletal system, not elsewhere classified	0.003	0.997	0.000
F17.1 Harmful use	0.003	0.997	0.000
Q76 Congenital malformations of spine and bony thorax	0.003	0.997	0.000
Q65 Congenital deformities of hip	0.003	0.997	0.000
Z11.8 Special screening examination for other infectious and parasitic diseases	0.003	0.997	0.000
Z11.4 Special screening examination for human immunodeficiency virus [HIV]	0.003	0.997	0.000
Q18.9 Congenital malformation of face and neck, unspecified	0.003	0.997	0.000
Q18.8 Other specified congenital malformations of face and neck	0.003	0.997	0.000
Q18.7 Microcheilia	0.003	0.997	0.000
Q18.6 Macrocheilia	0.003	0.997	0.000
Q18.5 Microstomia	0.003	0.997	0.000
Q18.4 Macrostomia	0.003	0.997	0.000
Q18.3 Webbing of neck	0.003	0.997	0.000
Q18.2 Other branchial cleft malformations	0.003	0.997	0.000
Q52.5 Fusion of labia	0.003	0.997	0.000
Q55.2 Other congenital malformations of testis and scrotum	0.003	0.997	0.000
C26.0 Intestinal tract, part unspecified	0.003	0.997	0.000
Q18.0 Sinus, fistula and cyst of branchial cleft	0.003	0.997	0.000
K83.8 Other specified diseases of biliary tract	0.003	0.997	0.000
S02.20 Fracture of nasal bones (closed)	0.000	0.997	0.003
Z11.6 Special screening examination for other protozoal diseases and helminthiases	0.003	0.997	0.000
D75.8 Other specified diseases of blood and blood-forming organs	0.000	0.997	0.003
Q61.9 Cystic kidney disease, unspecified	0.003	0.997	0.000
R82.9 Other and unspecified abnormal finding in urine	0.003	0.997	0.000
Q78 Other osteochondrodysplasias	0.003	0.997	0.000
D37.9 Digestive organ, unspecified	0.003	0.997	0.000
Q17.5 Prominent ear	0.003	0.997	0.000
Q98.4 Klinefelter's syndrome, unspecified	0.003	0.997	0.000
R93.8 Abnormal findings on diagnostic imaging of other specified body structures	0.003	0.997	0.000
Q66.7 Pes cavus	0.003	0.997	0.000
Q17.9 Congenital malformation of ear, unspecified	0.003	0.997	0.000
Q17.8 Other specified congenital malformations of ear	0.003	0.997	0.000
Q17.4 Misplaced ear	0.003	0.997	0.000
Q17.3 Other misshapen ear	0.003	0.997	0.000
Q17.2 Microtia	0.003	0.997	0.000
Q17.1 Macrotia	0.003	0.997	0.000
Q17.0 Accessory auricle	0.003	0.997	0.000
Q83.9 Congenital malformation of breast, unspecified	0.003	0.997	0.000
Q83.3 Accessory nipple	0.003	0.997	0.000
Q83.2 Absent nipple	0.003	0.997	0.000
Q83.0 Congenital absence of breast with absent nipple	0.003	0.997	0.000
Q07 Other congenital malformations of nervous system	0.003	0.997	0.000
Q62 Congenital obstructive defects of renal pelvis and congenital malformations of ureter	0.003	0.997	0.000
Q11.3 Macrophthalmos	0.003	0.997	0.000
Q11.2 Microphthalmos	0.003	0.997	0.000
Q11.1 Other anophthalmos	0.003	0.997	0.000
Q11.0 Cystic eyeball	0.003	0.997	0.000
Q13.9 Congenital malformation of anterior segment of eye, unspecified	0.003	0.997	0.000
Q13.8 Other congenital malformations of anterior segment of eye	0.003	0.997	0.000
Q13.5 Blue sclera	0.003	0.997	0.000
Q13.4 Other congenital corneal malformations	0.003	0.997	0.000
Q13.3 Congenital corneal opacity	0.003	0.997	0.000
Q13.2 Other congenital malformations of iris	0.003	0.997	0.000
Q13.1 Absence of iris	0.003	0.997	0.000
Q13.0 Coloboma of iris	0.003	0.997	0.000
Q14.9 Congenital malformation of posterior segment of eye, unspecified	0.003	0.997	0.000
Q14.8 Other congenital malformations of posterior segment of eye	0.003	0.997	0.000
Q14.3 Congenital malformation of choroid	0.003	0.997	0.000
Q14.2 Congenital malformation of optic disk	0.003	0.997	0.000
Q14.1 Congenital malformation of retina	0.003	0.997	0.000
Q14.0 Congenital malformation of vitreous humour	0.003	0.997	0.000
Q16.9 Congenital malformation of ear causing impairment of hearing, unspecified	0.003	0.997	0.000
Q16.5 Congenital malformation of inner ear	0.003	0.997	0.000
Q16.4 Other congenital malformations of middle ear	0.003	0.997	0.000
Q16.3 Congenital malformation of ear ossicles	0.003	0.997	0.000
Q16.2 Absence of eustachian tube	0.003	0.997	0.000
Q16.1 Congenital absence, atresia and stricture of auditory canal (external)	0.003	0.997	0.000
Q16.0 Congenital absence of (ear) auricle	0.003	0.997	0.000
Q54.8 Other hypospadias	0.003	0.997	0.000
Q54.4 Congenital chordee	0.003	0.997	0.000
Q54.3 Hypospadias, perineal	0.003	0.997	0.000
Q54.2 Hypospadias, penoscrotal	0.003	0.997	0.000
D37.3 Appendix	0.003	0.997	0.000
Q82.9 Congenital malformation of skin, unspecified	0.003	0.997	0.000
Q82.4 Ectodermal dysplasia (anhidrotic)	0.003	0.997	0.000
Q82.3 Incontinentia pigmenti	0.003	0.997	0.000
Q82.1 Xeroderma pigmentosum	0.003	0.997	0.000
Q82.0 Hereditary lymphoedema	0.003	0.997	0.000
Z11.5 Special screening examination for other viral diseases	0.003	0.997	0.000
D73.0 Hyposplenism	0.000	0.997	0.003
Q54.9 Hypospadias, unspecified	0.003	0.997	0.000
Q54.1 Hypospadias, penile	0.003	0.997	0.000
Q60.2 Renal agenesis, unspecified	0.003	0.997	0.000
Q10.7 Congenital malformation of orbit	0.002	0.997	0.000
Q10.6 Other congenital malformations of lachrymal apparatus	0.002	0.997	0.000
Q10.5 Congenital stenosis and stricture of lachrymal duct	0.002	0.997	0.000
Q10.4 Absence and agenesis of lachrymal apparatus	0.002	0.997	0.000
Q10.3 Other congenital malformations of eyelid	0.002	0.997	0.000
Q10.2 Congenital entropion	0.002	0.997	0.000
Q10.1 Congenital ectropion	0.002	0.997	0.000
Q98.9 Sex chromosome abnormality, male phenotype, unspecified	0.002	0.997	0.000
Q98.8 Other specified sex chromosome abnormalities, male phenotype	0.002	0.997	0.000
Q98.7 Male with sex chromosome mosaicism	0.002	0.997	0.000
Q98.6 Male with structurally abnormal sex chromosome	0.002	0.997	0.000
Q98.5 Karyotype 47,XYY	0.002	0.997	0.000
Q98.3 Other male with 46,XX karyotype	0.002	0.997	0.000
Q98.2 Klinefelter's syndrome, male with 46,XX karyotype	0.002	0.997	0.000
Q98.1 Klinefelter's syndrome, male with more than two X chromosomes	0.002	0.997	0.000
Q98.0 Klinefelter's syndrome karyotype 47,XXY	0.002	0.997	0.000
D75.2 Essential thrombocytosis	0.000	0.997	0.003
Q52.9 Congenital malformation of female genitalia, unspecified	0.003	0.997	0.000
Q52.8 Other specified congenital malformations of female genitalia	0.003	0.997	0.000
Q52.7 Other congenital malformations of vulva	0.003	0.997	0.000
Q52.6 Congenital malformation of clitoris	0.003	0.997	0.000
Q52.4 Other congenital malformations of vagina	0.003	0.997	0.000
Q52.3 Imperforate hymen	0.003	0.997	0.000
Q52.2 Congenital rectovaginal fistula	0.003	0.997	0.000
Q52.1 Doubling of vagina	0.003	0.997	0.000
Q52.0 Congenital absence of vagina	0.003	0.997	0.000
Q55.9 Congenital malformation of male genital organ, unspecified	0.003	0.997	0.000
Q55.8 Other specified congenital malformations of male genital organs	0.003	0.997	0.000
Q55.6 Other congenital malformations of penis	0.003	0.997	0.000
Q55.5 Congenital absence and aplasia of penis	0.003	0.997	0.000
Q55.4 Other congenital malformations of vas deferens, epididymis, seminal vesicles and prostate	0.003	0.997	0.000
Q55.3 Atresia of vas deferens	0.003	0.997	0.000
Q55.1 Hypoplasia of testis and scrotum	0.003	0.997	0.000
Q55.0 Absence and aplasia of testis	0.003	0.997	0.000
Q64.3 Other atresia and stenosis of urethra and bladder neck	0.003	0.997	0.000
Q83.8 Other congenital malformations of breast	0.002	0.997	0.000
Z11.9 Special screening examination for infectious and parasitic diseases, unspecified	0.003	0.997	0.000
Z11.3 Special screening examination for infections with a predominantly sexual mode of transmission	0.003	0.997	0.000
Z11.1 Special screening examination for respiratory tuberculosis	0.003	0.997	0.000
A08.4 Viral intestinal infection, unspecified	0.000	0.997	0.003
Q20-Q28 Congenital malformations of the circulatory system	0.003	0.997	0.000
Q53.1 Undescended testicle, unilateral	0.003	0.997	0.000
Q76.1 Klippel-Feil syndrome	0.003	0.997	0.000
Q89.9 Congenital malformation, unspecified	0.002	0.997	0.000
Q89.8 Other specified congenital malformations	0.002	0.997	0.000
Q89.7 Multiple congenital malformations, not elsewhere classified	0.002	0.997	0.000
Q89.4 Conjoined twins	0.002	0.997	0.000
Q89.3 Situs inversus	0.002	0.997	0.000
Q89.1 Congenital malformations of adrenal gland	0.002	0.997	0.000
Q89.0 Congenital malformations of spleen	0.002	0.997	0.000
Q90.9 Down's syndrome, unspecified	0.002	0.997	0.000
Q90.2 Trisomy 21, translocation	0.002	0.997	0.000
Q90.1 Trisomy 21, mosaicism (mitotic nondisjunction)	0.002	0.997	0.000
Q90.0 Trisomy 21, meiotic nondisjunction	0.002	0.997	0.000
Q91.7 Patau's syndrome, unspecified	0.002	0.997	0.000
Q91.6 Trisomy 13, translocation	0.002	0.997	0.000
Q91.5 Trisomy 13, mosaicism (mitotic nondisjunction)	0.002	0.997	0.000
Q91.4 Trisomy 13, meiotic nondisjunction	0.002	0.997	0.000
Q91.3 Edwards' syndrome, unspecified	0.002	0.997	0.000
Q91.2 Trisomy 18, translocation	0.002	0.997	0.000
Q91.1 Trisomy 18, mosaicism (mitotic nondisjunction)	0.002	0.997	0.000
Q91.0 Trisomy 18, meiotic nondisjunction	0.002	0.997	0.000
Q92.9 Trisomy and partial trisomy of autosomes, unspecified	0.002	0.997	0.000
Q92.8 Other specified trisomies and partial trisomies of autosomes	0.002	0.997	0.000
Q92.7 Triploidy and polyploidy	0.002	0.997	0.000
Q92.6 Extra marker chromosomes	0.002	0.997	0.000
Q92.5 Duplications with other complex rearrangements	0.002	0.997	0.000
Q92.4 Duplications seen only at prometaphase	0.002	0.997	0.000
Q92.3 Minor partial trisomy	0.002	0.997	0.000
Q92.2 Major partial trisomy	0.002	0.997	0.000
Q92.1 Whole chromosome trisomy, mosaicism (mitotic nondisjunction)	0.002	0.997	0.000
Q92.0 Whole chromosome trisomy, meiotic nondisjunction	0.002	0.997	0.000
Q93.9 Deletion from autosomes, unspecified	0.002	0.997	0.000
Q93.8 Other deletions from the autosomes	0.002	0.997	0.000
Q93.7 Deletions with other complex rearrangements	0.002	0.997	0.000
Q93.6 Deletions seen only at prometaphase	0.002	0.997	0.000
Q93.5 Other deletions of part of a chromosome	0.002	0.997	0.000
Q93.4 Deletion of short arm of chromosome 5	0.002	0.997	0.000
Q93.3 Deletion of short arm of chromosome 4	0.002	0.997	0.000
Q93.2 Chromosome replaced with ring or dicentric	0.002	0.997	0.000
Q93.1 Whole chromosome monosomy, mosaicism (mitotic nondisjunction)	0.002	0.997	0.000
Q93.0 Whole chromosome monosomy, meiotic nondisjunction	0.002	0.997	0.000
Q95.9 Balanced rearrangement and structural marker, unspecified	0.002	0.997	0.000
Q95.8 Other balanced rearrangements and structural markers	0.002	0.997	0.000
Q95.5 Individuals with autosomal fragile site	0.002	0.997	0.000
Q95.4 Individuals with marker heterochromatin	0.002	0.997	0.000
Q95.3 Balanced sex/autosomal rearrangement in abnormal individual	0.002	0.997	0.000
Q95.2 Balanced autosomal rearrangement in abnormal individual	0.002	0.997	0.000
Q95.1 Chromosome inversion in normal individual	0.002	0.997	0.000
Q95.0 Balanced translocation and insertion in normal individual	0.002	0.997	0.000
Q96.9 Turner's syndrome, unspecified	0.002	0.997	0.000
Q96.8 Other variants of Turner's syndrome	0.002	0.997	0.000
Q96.4 Mosaicism, 45,X/other cell line(s) with abnormal sex chromosome	0.002	0.997	0.000
Q96.3 Mosaicism, 45,X/46,XX or XY	0.002	0.997	0.000
Q96.2 Karyotype 46,X with abnormal sex chromosome, except iso (Xq)	0.002	0.997	0.000
Q96.1 Karyotype 46,X iso (Xq)	0.002	0.997	0.000
Q96.0 Karyotype 45,X	0.002	0.997	0.000
Q97.9 Sex chromosome abnormality, female phenotype, unspecified	0.002	0.997	0.000
Q97.8 Other specified sex chromosome abnormalities, female phenotype	0.002	0.997	0.000
Q97.3 Female with 46,XY karyotype	0.002	0.997	0.000
Q97.2 Mosaicism, lines with various numbers of X chromosomes	0.002	0.997	0.000
Q97.1 Female with more than three X chromosomes	0.002	0.997	0.000
Q97.0 Karyotype 47,XXX	0.002	0.997	0.000
Q99.9 Chromosomal abnormality, unspecified	0.002	0.997	0.000
Q99.8 Other specified chromosome abnormalities	0.002	0.997	0.000
Q99.2 Fragile X chromosome	0.002	0.997	0.000
Q99.1 46,XX true hermaphrodite	0.002	0.997	0.000
Q99.0 Chimera 46,XX/46,XY	0.002	0.997	0.000
Q10.0 Congenital ptosis	0.002	0.997	0.000
F17.2 Dependence syndrome	0.003	0.997	0.000
K86.1 Other chronic pancreatitis	0.003	0.997	0.000
Z30.1 Insertion of (intra-uterine) contraceptive device	0.003	0.997	0.000
Q50 Congenital malformations of ovaries, Fallopian tubes and broad ligaments	0.003	0.997	0.000
Q53.9 Undescended testicle, unspecified	0.002	0.997	0.000
Q53.2 Undescended testicle, bilateral	0.002	0.997	0.000
Q53.0 Ectopic testis	0.002	0.997	0.000
Y83.3 Surgical operation with formation of external stoma	0.003	0.997	0.000
Q30.9 Congenital malformation of nose, unspecified	0.002	0.997	0.000
Q30.8 Other congenital malformations of nose	0.002	0.997	0.000
Q30.3 Congenital perforated nasal septum	0.002	0.997	0.000
Q30.2 Fissured, notched and cleft nose	0.002	0.997	0.000
Q30.1 Agenesis and underdevelopment of nose	0.002	0.997	0.000
Q30.0 Choanal atresia	0.002	0.997	0.000
Q31.9 Congenital malformation of larynx, unspecified	0.002	0.997	0.000
Q31.8 Other congenital malformations of larynx	0.002	0.997	0.000
Q31.5 Congenital laryngomalacia	0.002	0.997	0.000
Q31.4 Congenital laryngeal stridor	0.002	0.997	0.000
Q31.3 Laryngocele	0.002	0.997	0.000
Q31.2 Laryngeal hypoplasia	0.002	0.997	0.000
Q31.1 Congenital subglottic stenosis	0.002	0.997	0.000
Q31.0 Web of larynx	0.002	0.997	0.000
Q32.4 Other congenital malformations of bronchus	0.002	0.997	0.000
Q32.3 Congenital stenosis of bronchus	0.002	0.997	0.000
Q32.2 Congenital bronchomalacia	0.002	0.997	0.000
Q32.1 Other congenital malformations of trachea	0.002	0.997	0.000
Q32.0 Congenital tracheomalacia	0.002	0.997	0.000
Q33.9 Congenital malformation of lung, unspecified	0.002	0.997	0.000
Q33.8 Other congenital malformations of lung	0.002	0.997	0.000
Q33.6 Hypoplasia and dysplasia of lung	0.002	0.997	0.000
Q33.5 Ectopic tissue in lung	0.002	0.997	0.000
Q33.4 Congenital bronchiectasis	0.002	0.997	0.000
Q33.3 Agenesis of lung	0.002	0.997	0.000
Q33.2 Sequestration of lung	0.002	0.997	0.000
Q33.1 Accessory lobe of lung	0.002	0.997	0.000
Q33.0 Congenital cystic lung	0.002	0.997	0.000
Q34.9 Congenital malformation of respiratory system, unspecified	0.002	0.997	0.000
Q34.8 Other specified congenital malformations of respiratory system	0.002	0.997	0.000
Q34.1 Congenital cyst of mediastinum	0.002	0.997	0.000
Q34.0 Anomaly of pleura	0.002	0.997	0.000
Q35.9 Cleft palate, unspecified	0.002	0.997	0.000
Q35.8 (Cleft palate, unspecified, bilateral)	0.002	0.997	0.000
Q35.7 Cleft uvula	0.002	0.997	0.000
Q35.6 Cleft palate, medial	0.002	0.997	0.000
Q35.5 Cleft hard palate with cleft soft palate	0.002	0.997	0.000
Q35.4 (Cleft hard palate with cleft soft palate, bilateral)	0.002	0.997	0.000
Q35.3 Cleft soft palate	0.002	0.997	0.000
Q35.2 (Cleft soft palate, bilateral)	0.002	0.997	0.000
Q35.1 Cleft hard palate	0.002	0.997	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.

Variant-specific associations