TreeWAS – Variant ID: rs12646808

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
K80.1 Calculus of gallbladder with other cholecystitis	0.671	0.329	0.000
E27 Other disorders of adrenal gland	0.444	0.556	0.000
E20-E35 Disorders of other endocrine glands	0.443	0.557	0.000
E24 Cushing's syndrome	0.437	0.563	0.000
E27.1 Primary adrenocortical insufficiency	0.436	0.564	0.000
E24.9 Cushing's syndrome, unspecified	0.410	0.590	0.000
E22 Hyperfunction of pituitary gland	0.408	0.592	0.000
E27.4 Other and unspecified adrenocortical insufficiency	0.399	0.601	0.000
E22.0 Acromegaly and pituitary gigantism	0.386	0.614	0.000
E23 Hypofunction and other disorders of pituitary gland	0.383	0.617	0.000
E24.8 Other Cushing's syndrome	0.381	0.619	0.000
E25 Adrenogenital disorders	0.381	0.619	0.000
K80 Cholelithiasis	0.380	0.620	0.000
E27.3 Drug-induced adrenocortical insufficiency	0.364	0.636	0.000
E24.0 Pituitary-dependent Cushing's disease	0.355	0.645	0.000
E20 Hypoparathyroidism	0.352	0.648	0.000
K80.0 Calculus of gallbladder with acute cholecystitis	0.351	0.649	0.000
E24.2 Drug-induced Cushing's syndrome	0.350	0.650	0.000
K80.4 Calculus of bile duct with cholecystitis	0.347	0.653	0.000
E29 Testicular dysfunction	0.343	0.657	0.000
E27.8 Other specified disorders of adrenal gland	0.340	0.660	0.000
E25.0 Congenital adrenogenital disorders associated with enzyme deficiency	0.336	0.664	0.000
E27.9 Disorder of adrenal gland, unspecified	0.335	0.665	0.000
E23.0 Hypopituitarism	0.328	0.672	0.000
E23.6 Other disorders of pituitary gland	0.320	0.680	0.000
E27.5 Adrenomedullary hyperfunction	0.319	0.681	0.000
E27.0 Other adrenocortical overactivity	0.319	0.681	0.000
E35 Disorders of endocrine glands in diseases classified elsewhere	0.318	0.682	0.000
E32 Diseases of thymus	0.318	0.682	0.000
E31 Polyglandular dysfunction	0.318	0.682	0.000
E30 Disorders of puberty, not elsewhere classified	0.318	0.682	0.000
E26 Hyperaldosteronism	0.318	0.682	0.000
E24.4 Alcohol-induced pseudo-Cushing's syndrome	0.313	0.687	0.000
E24.3 Ectopic ACTH syndrome	0.313	0.687	0.000
E24.1 Nelson's syndrome	0.313	0.687	0.000
E28 Ovarian dysfunction	0.301	0.699	0.000
E22.1 Hyperprolactinaemia	0.296	0.703	0.000
E22.9 Hyperfunction of pituitary gland, unspecified	0.293	0.707	0.000
E22.8 Other hyperfunction of pituitary gland	0.293	0.707	0.000
E21 Hyperparathyroidism and other disorders of parathyroid gland	0.292	0.708	0.000
E20.9 Hypoparathyroidism, unspecified	0.287	0.713	0.000
E23.2 Diabetes insipidus	0.284	0.716	0.000
E22.2 Syndrome of inappropriate secretion of antidiuretic hormone	0.281	0.719	0.000
E27.2 Addisonian crisis	0.280	0.720	0.000
E23.3 Hypothalamic dysfunction, not elsewhere classified	0.274	0.726	0.000
E23.1 Drug-induced hypopituitarism	0.274	0.726	0.000
E25.9 Adrenogenital disorder, unspecified	0.273	0.727	0.000
E25.8 Other adrenogenital disorders	0.273	0.727	0.000
K80.3 Calculus of bile duct with cholangitis	0.273	0.727	0.000
E29.1 Testicular hypofunction	0.270	0.730	0.000
E20.8 Other hypoparathyroidism	0.252	0.747	0.000
E20.1 Pseudohypoparathyroidism	0.252	0.747	0.000
E20.0 Idiopathic hypoparathyroidism	0.252	0.747	0.000
E21.5 Disorder of parathyroid gland, unspecified	0.252	0.748	0.000
E29.9 Testicular dysfunction, unspecified	0.248	0.752	0.000
E29.8 Other testicular dysfunction	0.246	0.754	0.000
E29.0 Testicular hyperfunction	0.246	0.754	0.000
E26.0 Primary hyperaldosteronism	0.241	0.759	0.000
E30.9 Disorder of puberty, unspecified	0.228	0.772	0.000
E30.8 Other disorders of puberty	0.228	0.772	0.000
E30.1 Precocious puberty	0.228	0.772	0.000
E30.0 Delayed puberty	0.228	0.772	0.000
E31.9 Polyglandular dysfunction, unspecified	0.228	0.772	0.000
E31.8 Other polyglandular dysfunction	0.228	0.772	0.000
E31.1 Polyglandular hyperfunction	0.228	0.772	0.000
E31.0 Autoimmune polyglandular failure	0.228	0.772	0.000
E32.9 Disease of thymus, unspecified	0.228	0.772	0.000
E32.8 Other diseases of thymus	0.228	0.772	0.000
E32.1 Abscess of thymus	0.228	0.772	0.000
E32.0 Persistent hyperplasia of thymus	0.228	0.772	0.000
E35.8 Disorders of other endocrine glands in diseases classified elsewhere	0.228	0.772	0.000
E35.1 Disorders of adrenal glands in diseases classified elsewhere	0.228	0.772	0.000
E35.0 Disorders of thyroid gland in diseases classified elsewhere	0.228	0.772	0.000
E26.8 Other hyperaldosteronism	0.228	0.772	0.000
E26.1 Secondary hyperaldosteronism	0.228	0.772	0.000
E23.7 Disorder of pituitary gland, unspecified	0.222	0.778	0.000
E28.2 Polycystic ovarian syndrome	0.217	0.783	0.000
E28.9 Ovarian dysfunction, unspecified	0.216	0.784	0.000
E28.8 Other ovarian dysfunction	0.216	0.784	0.000
E28.1 Androgen excess	0.216	0.784	0.000
E28.0 Oestrogen excess	0.216	0.784	0.000
E21.1 Secondary hyperparathyroidism, not elsewhere classified	0.215	0.785	0.000
E26.9 Hyperaldosteronism, unspecified	0.212	0.788	0.000
E21.4 Other specified disorders of parathyroid gland	0.207	0.793	0.000
E28.3 Primary ovarian failure	0.199	0.801	0.000
K80.36 Calculus of bile duct with acute and chronic cholangitis without obstruction	0.196	0.804	0.000
K80.5 Calculus of bile duct without cholangitis or cholecystitis	0.190	0.810	0.000
E21.2 Other hyperparathyroidism	0.184	0.815	0.000
K80.2 Calculus of gallbladder without cholecystitis	0.178	0.822	0.000
E21.3 Hyperparathyroidism, unspecified	0.173	0.827	0.000
E21.0 Primary hyperparathyroidism	0.170	0.830	0.000
K80.8 Other cholelithiasis	0.166	0.834	0.000
E34 Other endocrine disorders	0.160	0.840	0.001
E34.5 Androgen resistance syndrome	0.115	0.885	0.001
E34.4 Constitutional tall stature	0.115	0.885	0.001
E34.3 Short stature, not elsewhere classified	0.115	0.885	0.001
E34.2 Ectopic hormone secretion, not elsewhere classified	0.115	0.885	0.001
E34.1 Other hypersecretion of intestinal hormones	0.115	0.885	0.001
E34.8 Other specified endocrine disorders	0.096	0.903	0.001
E34.0 Carcinoid syndrome	0.092	0.907	0.001
M06.90 Rheumatoid arthritis, unspecified (Multiple sites)	0.068	0.932	0.000
Q38-Q45 Other congenital malformations of the digestive system	0.068	0.932	0.000
M06.9 Rheumatoid arthritis, unspecified	0.066	0.934	0.000
E34.9 Endocrine disorder, unspecified	0.063	0.936	0.001
M06.99 Rheumatoid arthritis, unspecified (Site unspecified)	0.063	0.937	0.000
Q43 Other congenital malformations of intestine	0.063	0.937	0.000
Q44 Congenital malformations of gallbladder, bile ducts and liver	0.062	0.938	0.000
Q40 Other congenital malformations of upper alimentary tract	0.062	0.938	0.000
M06.91 Rheumatoid arthritis, unspecified (Shoulder region)	0.061	0.939	0.000
Q38 Other congenital malformations of tongue, mouth and pharynx	0.060	0.940	0.000
Q39 Congenital malformations of oesophagus	0.059	0.941	0.000
Q43.8 Other specified congenital malformations of intestine	0.057	0.943	0.000
M06.98 Rheumatoid arthritis, unspecified (Other)	0.056	0.944	0.000
Q44.6 Cystic disease of liver	0.054	0.946	0.000
Q39.6 Diverticulum of oesophagus	0.054	0.946	0.000
Q40.3 Congenital malformation of stomach, unspecified	0.054	0.946	0.000
M06.95 Rheumatoid arthritis, unspecified (Pelvic region and thigh)	0.054	0.946	0.000
Q44.4 Choledochal cyst	0.053	0.947	0.000
Q40.2 Other specified congenital malformations of stomach	0.053	0.947	0.000
M06.94 Rheumatoid arthritis, unspecified (Hand)	0.051	0.949	0.000
Q43.9 Congenital malformation of intestine, unspecified	0.051	0.949	0.000
Q43.0 Meckel's diverticulum	0.050	0.950	0.000
Q42 Congenital absence, atresia and stenosis of large intestine	0.049	0.951	0.000
Q41 Congenital absence, atresia and stenosis of small intestine	0.049	0.951	0.000
M06.96 Rheumatoid arthritis, unspecified (Lower leg)	0.049	0.951	0.000
M06.93 Rheumatoid arthritis, unspecified (Forearm)	0.048	0.952	0.000
M06.92 Rheumatoid arthritis, unspecified (Upper arm)	0.048	0.952	0.000
Q38.1 Ankyloglossia	0.048	0.952	0.000
Q38.6 Other congenital malformations of mouth	0.048	0.952	0.000
Q44.7 Other congenital malformations of liver	0.047	0.953	0.000
Q43.3 Congenital malformations of intestinal fixation	0.047	0.953	0.000
Q45 Other congenital malformations of digestive system	0.047	0.953	0.000
Chapter XVII Congenital malformations, deformations and chromosomal abnormalities	0.047	0.953	0.000
Q38.7 Pharyngeal pouch	0.047	0.953	0.000
Q43.7 Persistent cloaca	0.046	0.954	0.000
Q43.6 Congenital fistula of rectum and anus	0.046	0.954	0.000
Q43.5 Ectopic anus	0.046	0.954	0.000
Q43.4 Duplication of intestine	0.046	0.954	0.000
Q43.2 Other congenital functional disorders of colon	0.046	0.954	0.000
Q38.8 Other congenital malformations of pharynx	0.045	0.955	0.000
Q44.3 Congenital stenosis and stricture of bile ducts	0.045	0.955	0.000
Q44.2 Atresia of bile ducts	0.045	0.955	0.000
Q44.1 Other congenital malformations of gallbladder	0.045	0.955	0.000
Q44.0 Agenesis, aplasia and hypoplasia of gallbladder	0.045	0.955	0.000
Q40.9 Congenital malformation of upper alimentary tract, unspecified	0.044	0.955	0.000
Q40.8 Other specified congenital malformations of upper alimentary tract	0.044	0.955	0.000
Q40.0 Congenital hypertrophic pyloric stenosis	0.044	0.955	0.000
Q43.1 Hirschsprung's disease	0.044	0.956	0.000
Q40.1 Congenital hiatus hernia	0.044	0.956	0.000
Q44.5 Other congenital malformations of bile ducts	0.044	0.956	0.000
Q60-Q64 Congenital malformations of the urinary system	0.044	0.956	0.000
Q38.5 Congenital malformations of palate, not elsewhere classified	0.043	0.957	0.000
Q38.4 Congenital malformations of salivary glands and ducts	0.043	0.957	0.000
Q38.3 Other congenital malformations of tongue	0.043	0.957	0.000
Q38.2 Macroglossia	0.043	0.957	0.000
Q38.0 Congenital malformations of lips, not elsewhere classified	0.043	0.957	0.000
Q39.9 Congenital malformation of oesophagus, unspecified	0.043	0.957	0.000
Q39.8 Other congenital malformations of oesophagus	0.043	0.957	0.000
Q39.5 Congenital dilatation of oesophagus	0.043	0.957	0.000
Q39.3 Congenital stenosis and stricture of oesophagus	0.043	0.957	0.000
Q39.2 Congenital tracheooesophageal fistula without atresia	0.043	0.957	0.000
Q39.1 Atresia of oesophagus with tracheooesophageal fistula	0.043	0.957	0.000
Q39.0 Atresia of oesophagus without fistula	0.043	0.957	0.000
Q39.4 Oesophageal web	0.042	0.958	0.000
Q61 Cystic kidney disease	0.040	0.960	0.000
Q80-Q89 Other congenital malformations	0.038	0.962	0.000
Q61.3 Polycystic kidney, unspecified	0.037	0.963	0.000
Q61.2 Polycystic kidney, adult type	0.037	0.963	0.000
Q90-Q99 Chromosomal abnormalities, not elsewhere classified	0.036	0.964	0.000
Q62 Congenital obstructive defects of renal pelvis and congenital malformations of ureter	0.035	0.964	0.000
Q41.9 Congenital absence, atresia and stenosis of small intestine, part unspecified	0.035	0.965	0.000
Q41.8 Congenital absence, atresia and stenosis of other specified parts of small intestine	0.035	0.965	0.000
Q41.2 Congenital absence, atresia and stenosis of ileum	0.035	0.965	0.000
Q41.1 Congenital absence, atresia and stenosis of jejunum	0.035	0.965	0.000
Q41.0 Congenital absence, atresia and stenosis of duodenum	0.035	0.965	0.000
Q42.9 Congenital absence, atresia and stenosis of large intestine, part unspecified	0.035	0.965	0.000
Q42.8 Congenital absence, atresia and stenosis of other parts of large intestine	0.035	0.965	0.000
Q42.3 Congenital absence, atresia and stenosis of anus without fistula	0.035	0.965	0.000
Q42.2 Congenital absence, atresia and stenosis of anus with fistula	0.035	0.965	0.000
Q42.1 Congenital absence, atresia and stenosis of rectum without fistula	0.035	0.965	0.000
Q42.0 Congenital absence, atresia and stenosis of rectum with fistula	0.035	0.965	0.000
Q00-Q07 Congenital malformations of the nervous system	0.035	0.965	0.000
Q64 Other congenital malformations of urinary system	0.035	0.965	0.000
Q50-Q56 Congenital malformations of genital organs	0.034	0.966	0.000
Q45.9 Congenital malformation of digestive system, unspecified	0.034	0.966	0.000
Q45.2 Congenital pancreatic cyst	0.034	0.966	0.000
Q45.1 Annular pancreas	0.034	0.966	0.000
Q45.0 Agenesis, aplasia and hypoplasia of pancreas	0.034	0.966	0.000
Q30-Q34 Congenital malformations of the respiratory system	0.034	0.966	0.000
Q35-Q37 Cleft lip and cleft palate	0.033	0.966	0.000
Q45.8 Other specified congenital malformations of digestive system	0.033	0.967	0.000
Q60 Renal agenesis and other reduction defects of kidney	0.033	0.967	0.000
Q87 Other specified congenital malformation syndromes affecting multiple systems	0.033	0.967	0.000
Q65-Q79 Congenital malformations and deformations of the musculoskeletal system	0.033	0.967	0.000
Q45.3 Other congenital malformations of pancreas and pancreatic duct	0.032	0.967	0.000
Q20-Q28 Congenital malformations of the circulatory system	0.030	0.970	0.000
Q83 Congenital malformations of breast	0.030	0.970	0.000
Q55 Other congenital malformations of male genital organs	0.029	0.971	0.000
Q05 Spina bifida	0.029	0.971	0.000
Q28 Other congenital malformations of circulatory system	0.029	0.971	0.000
Q61.8 Other cystic kidney diseases	0.029	0.971	0.000
Q61.1 Polycystic kidney, infantile type	0.029	0.971	0.000
Q87.4 Marfan's syndrome	0.029	0.971	0.000
Q62.8 Other congenital malformations of ureter	0.028	0.972	0.000
Q96 Turner's syndrome	0.028	0.972	0.000
Q28.2 Arteriovenous malformation of cerebral vessels	0.028	0.972	0.000
Q50 Congenital malformations of ovaries, Fallopian tubes and broad ligaments	0.027	0.973	0.000
Q64.4 Malformation of urachus	0.027	0.973	0.000
Q86 Congenital malformation syndromes due to known exogenous causes, not elsewhere classified	0.027	0.973	0.000
Q84 Other congenital malformations of integument	0.027	0.973	0.000
Q81 Epidermolysis bullosa	0.027	0.973	0.000
Q80 Congenital ichthyosis	0.027	0.973	0.000
Q99 Other chromosome abnormalities, not elsewhere classified	0.027	0.973	0.000
Q89 Other congenital malformations, not elsewhere classified	0.027	0.973	0.000
Q76 Congenital malformations of spine and bony thorax	0.027	0.973	0.000
Q63 Other congenital malformations of kidney	0.026	0.973	0.000
Q62.2 Congenital megaloureter	0.027	0.973	0.000
Q61.4 Renal dysplasia	0.027	0.973	0.000
Q62.5 Duplication of ureter	0.027	0.973	0.000
Q64.7 Other congenital malformations of bladder and urethra	0.026	0.974	0.000
Q61.9 Cystic kidney disease, unspecified	0.026	0.974	0.000
Q77 Osteochondrodysplasia with defects of growth of tubular bones and spine	0.026	0.974	0.000
Q52 Other congenital malformations of female genitalia	0.026	0.974	0.000
Q97 Other sex chromosome abnormalities, female phenotype, not elsewhere classified	0.026	0.974	0.000
Q95 Balanced rearrangements and structural markers, not elsewhere classified	0.026	0.974	0.000
Q93 Monosomies and deletions from the autosomes, not elsewhere classified	0.026	0.974	0.000
Q92 Other trisomies and partial trisomies of the autosomes, not elsewhere classified	0.026	0.974	0.000
Q91 Edwards' syndrome and Patau's syndrome	0.026	0.974	0.000
Q78 Other osteochondrodysplasias	0.026	0.974	0.000
Q61.0 Congenital single renal cyst	0.026	0.974	0.000
Q98 Other sex chromosome abnormalities, male phenotype, not elsewhere classified	0.026	0.974	0.000
Q90 Down's syndrome	0.026	0.974	0.000
Q62.7 Congenital vesico-uretero-renal reflux	0.026	0.974	0.000
Q62.6 Malposition of ureter	0.026	0.974	0.000
Q62.4 Agenesis of ureter	0.026	0.974	0.000
Q62.3 Other obstructive defects of renal pelvis and ureter	0.026	0.974	0.000
Q62.1 Atresia and stenosis of ureter	0.026	0.974	0.000
Q62.0 Congenital hydronephrosis	0.026	0.974	0.000
Q06 Other congenital malformations of spinal cord	0.025	0.974	0.000
Q01 Encephalocele	0.025	0.974	0.000
Q00 Anencephaly and similar malformations	0.025	0.974	0.000
Q02 Microcephaly	0.025	0.974	0.000
Q60.2 Renal agenesis, unspecified	0.025	0.974	0.000
S22.30 Fracture of rib (closed)	0.025	0.975	0.000
Q83.3 Accessory nipple	0.025	0.975	0.000
Q64.3 Other atresia and stenosis of urethra and bladder neck	0.025	0.975	0.000
Q87.8 Other specified congenital malformation syndromes, not elsewhere classified	0.025	0.975	0.000
M06 Other rheumatoid arthritis	0.025	0.975	0.000
Q04 Other congenital malformations of brain	0.025	0.975	0.000
Q64.9 Congenital malformation of urinary system, unspecified	0.025	0.975	0.000
Q64.8 Other specified congenital malformations of urinary system	0.025	0.975	0.000
Q64.6 Congenital diverticulum of bladder	0.025	0.975	0.000
Q64.5 Congenital absence of bladder and urethra	0.025	0.975	0.000
Q64.2 Congenital posterior urethral valves	0.025	0.975	0.000
Q64.1 Exstrophy of urinary bladder	0.025	0.975	0.000
Q64.0 Epispadias	0.025	0.975	0.000
Q03 Congenital hydrocephalus	0.025	0.975	0.000
Q53 Undescended testicle	0.025	0.975	0.000
Q05.9 Spina bifida, unspecified	0.025	0.975	0.000
Q74 Other congenital malformations of limb(s)	0.025	0.975	0.000
Q37 Cleft palate with cleft lip	0.024	0.975	0.000
Q56 Indeterminate sex and pseudohermaphroditism	0.024	0.975	0.000
Q34 Other congenital malformations of respiratory system	0.024	0.976	0.000
Q33 Congenital malformations of lung	0.024	0.976	0.000
Q32 Congenital malformations of trachea and bronchus	0.024	0.976	0.000
Q31 Congenital malformations of larynx	0.024	0.976	0.000
Q30 Congenital malformations of nose	0.024	0.976	0.000
Q67 Congenital musculoskeletal deformities of head, face, spine and chest	0.024	0.976	0.000
Q85 Phakomatoses, not elsewhere classified	0.024	0.976	0.000
Q36 Cleft lip	0.024	0.976	0.000
Q65 Congenital deformities of hip	0.024	0.976	0.000
Q27 Other congenital malformations of peripheral vascular system	0.024	0.976	0.000
Q55.6 Other congenital malformations of penis	0.024	0.976	0.000
Q10-Q18 Congenital malformations of eye, ear, face and neck	0.024	0.976	0.000
Q60.6 Potter's syndrome	0.024	0.976	0.000
Q60.5 Renal hypoplasia, unspecified	0.024	0.976	0.000
Q60.4 Renal hypoplasia, bilateral	0.024	0.976	0.000
Q60.3 Renal hypoplasia, unilateral	0.024	0.976	0.000
Q60.1 Renal agenesis, bilateral	0.024	0.976	0.000
Q87.5 Other congenital malformation syndromes with other skeletal changes	0.024	0.976	0.000
Q87.3 Congenital malformation syndromes involving early overgrowth	0.024	0.976	0.000
Q87.2 Congenital malformation syndromes predominantly involving limbs	0.024	0.976	0.000
Q87.1 Congenital malformation syndromes predominantly associated with short stature	0.024	0.976	0.000
Q87.0 Congenital malformation syndromes predominantly affecting facial appearance	0.024	0.976	0.000
Q70 Syndactyly	0.024	0.976	0.000
Q35 Cleft palate	0.024	0.976	0.000
Q61.5 Medullary cystic kidney	0.024	0.976	0.000
Q28.0 Arteriovenous malformation of precerebral vessels	0.024	0.976	0.000
Q75 Other congenital malformations of skull and face bones	0.024	0.976	0.000
Q73 Reduction defects of unspecified limb	0.024	0.976	0.000
Q72 Reduction defects of lower limb	0.024	0.976	0.000
Q71 Reduction defects of upper limb	0.024	0.976	0.000
Q69 Polydactyly	0.024	0.976	0.000
Q60.0 Renal agenesis, unilateral	0.024	0.976	0.000
Q50.5 Embryonic cyst of broad ligament	0.023	0.977	0.000
Q07 Other congenital malformations of nervous system	0.023	0.977	0.000
Q68 Other congenital musculoskeletal deformities	0.023	0.977	0.000
Q55.4 Other congenital malformations of vas deferens, epididymis, seminal vesicles and prostate	0.023	0.977	0.000
Q22 Congenital malformations of pulmonary and tricuspid valves	0.023	0.977	0.000
Q55.2 Other congenital malformations of testis and scrotum	0.023	0.977	0.000
Q63.1 Lobulated, fused and horseshoe kidney	0.023	0.977	0.000
Q82 Other congenital malformations of skin	0.022	0.978	0.000
Q76.4 Other congenital malformations of spine, not associated with scoliosis	0.022	0.978	0.000
Q05.7 Lumbar spina bifida without hydrocephalus	0.022	0.978	0.000
Q96.9 Turner's syndrome, unspecified	0.022	0.978	0.000
Q26 Congenital malformations of great veins	0.022	0.978	0.000
Q20 Congenital malformations of cardiac chambers and connexions	0.022	0.978	0.000
Q83.1 Accessory breast	0.022	0.978	0.000
Q83.9 Congenital malformation of breast, unspecified	0.022	0.978	0.000
Q83.2 Absent nipple	0.022	0.978	0.000
Q83.0 Congenital absence of breast with absent nipple	0.022	0.978	0.000
Q25 Congenital malformations of great arteries	0.022	0.978	0.000
Q77.4 Achondroplasia	0.021	0.978	0.000
Q27.3 Peripheral arteriovenous malformation	0.022	0.978	0.000
Q55.9 Congenital malformation of male genital organ, unspecified	0.021	0.979	0.000
Q55.8 Other specified congenital malformations of male genital organs	0.021	0.979	0.000
Q55.5 Congenital absence and aplasia of penis	0.021	0.979	0.000
Q55.3 Atresia of vas deferens	0.021	0.979	0.000
Q55.1 Hypoplasia of testis and scrotum	0.021	0.979	0.000
Q55.0 Absence and aplasia of testis	0.021	0.979	0.000
Q78.0 Osteogenesis imperfecta	0.021	0.979	0.000
Q05.8 Sacral spina bifida without hydrocephalus	0.021	0.979	0.000
Q05.6 Thoracic spina bifida without hydrocephalus	0.021	0.979	0.000
Q05.5 Cervical spina bifida without hydrocephalus	0.021	0.979	0.000
Q05.3 Sacral spina bifida with hydrocephalus	0.021	0.979	0.000
Q05.2 Lumbar spina bifida with hydrocephalus	0.021	0.979	0.000
Q05.1 Thoracic spina bifida with hydrocephalus	0.021	0.979	0.000
Q05.0 Cervical spina bifida with hydrocephalus	0.021	0.979	0.000
Q28.9 Congenital malformation of circulatory system, unspecified	0.021	0.979	0.000
Q28.8 Other specified congenital malformations of circulatory system	0.021	0.979	0.000
Q28.1 Other malformations of precerebral vessels	0.021	0.979	0.000
M06.97 Rheumatoid arthritis, unspecified (Ankle and foot)	0.021	0.979	0.000
Q89.3 Situs inversus	0.021	0.979	0.000
Q76.1 Klippel-Feil syndrome	0.021	0.979	0.000
Q99.8 Other specified chromosome abnormalities	0.020	0.979	0.000
Q52.1 Doubling of vagina	0.020	0.979	0.000
Q96.8 Other variants of Turner's syndrome	0.020	0.980	0.000
Q96.4 Mosaicism, 45,X/other cell line(s) with abnormal sex chromosome	0.020	0.980	0.000
Q96.3 Mosaicism, 45,X/46,XX or XY	0.020	0.980	0.000
Q96.2 Karyotype 46,X with abnormal sex chromosome, except iso (Xq)	0.020	0.980	0.000
Q96.1 Karyotype 46,X iso (Xq)	0.020	0.980	0.000
Q96.0 Karyotype 45,X	0.020	0.980	0.000
Q74.0 Other congenital malformations of upper limb(s), including shoulder girdle	0.020	0.980	0.000
Q76.0 Spina bifida occulta	0.020	0.980	0.000
Q50.6 Other congenital malformatons of Fallopian tube and broad ligament	0.020	0.980	0.000
Q50.3 Other congenital malformations of ovary	0.020	0.980	0.000
Q50.2 Congenital torsion of ovary	0.020	0.980	0.000
Q50.1 Developmental ovarian cyst	0.020	0.980	0.000
Q50.0 Congenital absence of ovary	0.020	0.980	0.000
Q63.8 Other specified congenital malformations of kidney	0.019	0.980	0.000
Q83.8 Other congenital malformations of breast	0.020	0.980	0.000
Q80.9 Congenital ichthyosis, unspecified	0.020	0.980	0.000
Q80.8 Other congenital ichthyosis	0.020	0.980	0.000
Q80.4 Harlequin foetus	0.020	0.980	0.000
Q80.3 Congenital bullous ichthyosiform erythroderma	0.020	0.980	0.000
Q80.2 Lamellar ichthyosis	0.020	0.980	0.000
Q80.1 X-linked ichthyosis	0.020	0.980	0.000
Q80.0 Ichthyosis vulgaris	0.020	0.980	0.000
Q81.9 Epidermolysis bullosa, unspecified	0.020	0.980	0.000
Q81.8 Other epidermolysis bullosa	0.020	0.980	0.000
Q81.2 Epidermolysis bullosa dystrophica	0.020	0.980	0.000
Q81.1 Epidermolysis bullosa letalis	0.020	0.980	0.000
Q81.0 Epidermolysis bullosa simplex	0.020	0.980	0.000
Q84.9 Congenital malformation of integument, unspecified	0.020	0.980	0.000
Q84.8 Other specified congenital malformations of integument	0.020	0.980	0.000
Q84.6 Other congenital malformations of nails	0.020	0.980	0.000
Q84.5 Enlarged and hypertrophic nails	0.020	0.980	0.000
Q84.4 Congenital leukonychia	0.020	0.980	0.000
Q84.3 Anonychia	0.020	0.980	0.000
Q84.2 Other congenital malformations of hair	0.020	0.980	0.000
Q84.1 Congenital morphological disturbances of hair, not elsewhere classified	0.020	0.980	0.000
Q84.0 Congenital alopecia	0.020	0.980	0.000
Q86.8 Other congenital malformation syndromes due to known exogenous causes	0.020	0.980	0.000
Q86.2 Dysmorphism due to warfarin	0.020	0.980	0.000
Q86.1 Foetal hydantoin syndrome	0.020	0.980	0.000
Q86.0 Foetal alcohol syndrome (dysmorphic)	0.020	0.980	0.000
Q99.9 Chromosomal abnormality, unspecified	0.019	0.980	0.000
Q99.2 Fragile X chromosome	0.019	0.980	0.000
Q99.1 46,XX true hermaphrodite	0.019	0.980	0.000
Q99.0 Chimera 46,XX/46,XY	0.019	0.980	0.000
Q89.9 Congenital malformation, unspecified	0.019	0.980	0.000
Q89.8 Other specified congenital malformations	0.019	0.980	0.000
Q89.7 Multiple congenital malformations, not elsewhere classified	0.019	0.980	0.000
Q89.4 Conjoined twins	0.019	0.980	0.000
Q89.1 Congenital malformations of adrenal gland	0.019	0.980	0.000
Q89.0 Congenital malformations of spleen	0.019	0.980	0.000
Q76.9 Congenital malformation of bony thorax, unspecified	0.019	0.980	0.000
Q76.8 Other congenital malformations of bony thorax	0.019	0.980	0.000
Q76.7 Congenital malformation of sternum	0.019	0.980	0.000
Q76.6 Other congenital malformations of ribs	0.019	0.980	0.000
Q76.3 Congenital scoliosis due to congenital bony malformation	0.019	0.980	0.000
Q76.2 Congenital spondylolisthesis	0.019	0.980	0.000
Q05.4 Unspecified spina bifida with hydrocephalus	0.019	0.980	0.000
Q63.9 Congenital malformation of kidney, unspecified	0.019	0.980	0.000
Q63.3 Hyperplastic and giant kidney	0.019	0.980	0.000
Q28.3 Other malformations of cerebral vessels	0.019	0.980	0.000
Q53.2 Undescended testicle, bilateral	0.019	0.981	0.000
Q65.2 Congenital dislocation of hip, unspecified	0.019	0.981	0.000
Q77.9 Osteochondrodysplasia with defects of growth of tubular bones and spine, unspecified	0.019	0.981	0.000
Q77.8 Other osteochondrodysplasia with defects of growth of tubular bones and spine	0.019	0.981	0.000
Q77.7 Spondyloepiphyseal dysplasia	0.019	0.981	0.000
Q77.6 Chondroectodermal dysplasia	0.019	0.981	0.000
Q77.5 Diastrophic dysplasia	0.019	0.981	0.000
Q77.3 Chondrodysplasia punctata	0.019	0.981	0.000
Q77.2 Short rib syndrome	0.019	0.981	0.000
Q77.1 Thanatophoric short stature	0.019	0.981	0.000
Q77.0 Achondrogenesis	0.019	0.981	0.000
Q52.9 Congenital malformation of female genitalia, unspecified	0.019	0.981	0.000
Q52.8 Other specified congenital malformations of female genitalia	0.019	0.981	0.000
Q52.7 Other congenital malformations of vulva	0.019	0.981	0.000
Q52.6 Congenital malformation of clitoris	0.019	0.981	0.000
Q52.5 Fusion of labia	0.019	0.981	0.000
Q52.4 Other congenital malformations of vagina	0.019	0.981	0.000
Q52.3 Imperforate hymen	0.019	0.981	0.000
Q52.2 Congenital rectovaginal fistula	0.019	0.981	0.000
Q52.0 Congenital absence of vagina	0.019	0.981	0.000
Q63.2 Ectopic kidney	0.019	0.981	0.000
Q91.7 Patau's syndrome, unspecified	0.019	0.981	0.000
Q91.6 Trisomy 13, translocation	0.019	0.981	0.000
Q91.5 Trisomy 13, mosaicism (mitotic nondisjunction)	0.019	0.981	0.000
Q91.4 Trisomy 13, meiotic nondisjunction	0.019	0.981	0.000
Q91.3 Edwards' syndrome, unspecified	0.019	0.981	0.000
Q91.2 Trisomy 18, translocation	0.019	0.981	0.000
Q91.1 Trisomy 18, mosaicism (mitotic nondisjunction)	0.019	0.981	0.000
Q91.0 Trisomy 18, meiotic nondisjunction	0.019	0.981	0.000
Q92.9 Trisomy and partial trisomy of autosomes, unspecified	0.019	0.981	0.000
Q92.8 Other specified trisomies and partial trisomies of autosomes	0.019	0.981	0.000
Q92.7 Triploidy and polyploidy	0.019	0.981	0.000
Q92.6 Extra marker chromosomes	0.019	0.981	0.000
Q92.5 Duplications with other complex rearrangements	0.019	0.981	0.000
Q92.4 Duplications seen only at prometaphase	0.019	0.981	0.000
Q92.3 Minor partial trisomy	0.019	0.981	0.000
Q92.2 Major partial trisomy	0.019	0.981	0.000
Q92.1 Whole chromosome trisomy, mosaicism (mitotic nondisjunction)	0.019	0.981	0.000
Q92.0 Whole chromosome trisomy, meiotic nondisjunction	0.019	0.981	0.000
Q93.9 Deletion from autosomes, unspecified	0.019	0.981	0.000
Q93.8 Other deletions from the autosomes	0.019	0.981	0.000
Q93.7 Deletions with other complex rearrangements	0.019	0.981	0.000
Q93.6 Deletions seen only at prometaphase	0.019	0.981	0.000
Q93.5 Other deletions of part of a chromosome	0.019	0.981	0.000
Q93.4 Deletion of short arm of chromosome 5	0.019	0.981	0.000
Q93.3 Deletion of short arm of chromosome 4	0.019	0.981	0.000
Q93.2 Chromosome replaced with ring or dicentric	0.019	0.981	0.000
Q93.1 Whole chromosome monosomy, mosaicism (mitotic nondisjunction)	0.019	0.981	0.000
Q93.0 Whole chromosome monosomy, meiotic nondisjunction	0.019	0.981	0.000
Q95.9 Balanced rearrangement and structural marker, unspecified	0.019	0.981	0.000
Q95.8 Other balanced rearrangements and structural markers	0.019	0.981	0.000
Q95.5 Individuals with autosomal fragile site	0.019	0.981	0.000
Q95.4 Individuals with marker heterochromatin	0.019	0.981	0.000
Q95.3 Balanced sex/autosomal rearrangement in abnormal individual	0.019	0.981	0.000
Q95.2 Balanced autosomal rearrangement in abnormal individual	0.019	0.981	0.000
Q95.1 Chromosome inversion in normal individual	0.019	0.981	0.000
Q95.0 Balanced translocation and insertion in normal individual	0.019	0.981	0.000
Q97.9 Sex chromosome abnormality, female phenotype, unspecified	0.019	0.981	0.000
Q97.8 Other specified sex chromosome abnormalities, female phenotype	0.019	0.981	0.000
Q97.3 Female with 46,XY karyotype	0.019	0.981	0.000
Q97.2 Mosaicism, lines with various numbers of X chromosomes	0.019	0.981	0.000
Q97.1 Female with more than three X chromosomes	0.019	0.981	0.000
Q97.0 Karyotype 47,XXX	0.019	0.981	0.000
Q50.4 Embryonic cyst of Fallopian tube	0.019	0.981	0.000
Q78.9 Osteochondrodysplasia, unspecified	0.019	0.981	0.000
Q78.8 Other specified osteochondrodysplasias	0.019	0.981	0.000
Q78.6 Multiple congenital exostoses	0.019	0.981	0.000
Q78.5 Metaphyseal dysplasia	0.019	0.981	0.000
Q78.4 Enchondromatosis	0.019	0.981	0.000
Q78.3 Progressive diaphyseal dysplasia	0.019	0.981	0.000
Q78.2 Osteopetrosis	0.019	0.981	0.000
Q78.1 Polyostotic fibrous dysplasia	0.019	0.981	0.000
Q98.9 Sex chromosome abnormality, male phenotype, unspecified	0.019	0.981	0.000
Q98.8 Other specified sex chromosome abnormalities, male phenotype	0.019	0.981	0.000
Q98.7 Male with sex chromosome mosaicism	0.019	0.981	0.000
Q98.6 Male with structurally abnormal sex chromosome	0.019	0.981	0.000
Q98.5 Karyotype 47,XYY	0.019	0.981	0.000
Q98.3 Other male with 46,XX karyotype	0.019	0.981	0.000
Q98.2 Klinefelter's syndrome, male with 46,XX karyotype	0.019	0.981	0.000
Q98.1 Klinefelter's syndrome, male with more than two X chromosomes	0.019	0.981	0.000
Q98.0 Klinefelter's syndrome karyotype 47,XXY	0.019	0.981	0.000
Q79 Congenital malformations of musculoskeletal system, not elsewhere classified	0.019	0.981	0.000
Q90.2 Trisomy 21, translocation	0.019	0.981	0.000
Q90.1 Trisomy 21, mosaicism (mitotic nondisjunction)	0.019	0.981	0.000
Q90.0 Trisomy 21, meiotic nondisjunction	0.019	0.981	0.000
Q98.4 Klinefelter's syndrome, unspecified	0.019	0.981	0.000
Q76.5 Cervical rib	0.019	0.981	0.000
Q24 Other congenital malformations of heart	0.019	0.981	0.000
Q22.5 Ebstein's anomaly	0.019	0.981	0.000
Q90.9 Down's syndrome, unspecified	0.018	0.981	0.000
Q00.2 Iniencephaly	0.018	0.981	0.000
Q00.1 Craniorachischisis	0.018	0.981	0.000
Q00.0 Anencephaly	0.018	0.981	0.000
Q01.9 Encephalocele, unspecified	0.018	0.981	0.000
Q01.8 Encephalocele of other sites	0.018	0.981	0.000
Q01.2 Occipital encephalocele	0.018	0.981	0.000
Q01.1 Nasofrontal encephalocele	0.018	0.981	0.000
Q01.0 Frontal encephalocele	0.018	0.981	0.000
Q06.9 Congenital malformation of spinal cord, unspecified	0.018	0.981	0.000
Q06.8 Other specified congenital malformations of spinal cord	0.018	0.981	0.000
Q06.4 Hydromyelia	0.018	0.981	0.000
Q06.3 Other congenital cauda equina malformations	0.018	0.981	0.000
Q06.2 Diastematomyelia	0.018	0.981	0.000
Q06.1 Hypoplasia and dysplasia of spinal cord	0.018	0.981	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