TreeWAS – Variant ID: rs12701220

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
D61.9 Aplastic anaemia, unspecified	0.000	0.913	0.087
D61 Other aplastic anaemias	0.000	0.957	0.043
D61.1 Drug-induced aplastic anaemia	0.000	0.967	0.033
D61.0 Constitutional aplastic anaemia	0.000	0.969	0.031
D61.8 Other specified aplastic anaemias	0.000	0.969	0.031
D61.3 Idiopathic aplastic anaemia	0.000	0.969	0.031
D61.2 Aplastic anaemia due to other external agents	0.000	0.969	0.031
A04.7 Enterocolitis due to Clostridium difficile	0.012	0.988	0.000
M06.0 Seronegative rheumatoid arthritis	0.011	0.989	0.000
M06.00 Seronegative rheumatoid arthritis (Multiple sites)	0.011	0.989	0.000
M06.9 Rheumatoid arthritis, unspecified	0.011	0.989	0.000
M06.94 Rheumatoid arthritis, unspecified (Hand)	0.011	0.989	0.000
H90.2 Conductive hearing loss, unspecified	0.000	0.990	0.010
M06.93 Rheumatoid arthritis, unspecified (Forearm)	0.010	0.990	0.000
M06.06 Seronegative rheumatoid arthritis (Lower leg)	0.010	0.990	0.000
M06.09 Seronegative rheumatoid arthritis (Site unspecified)	0.010	0.990	0.000
M06 Other rheumatoid arthritis	0.009	0.991	0.000
M06.92 Rheumatoid arthritis, unspecified (Upper arm)	0.009	0.991	0.000
M06.98 Rheumatoid arthritis, unspecified (Other)	0.009	0.991	0.000
F10.2 Dependence syndrome	0.000	0.991	0.009
M06.96 Rheumatoid arthritis, unspecified (Lower leg)	0.008	0.992	0.000
M06.08 Seronegative rheumatoid arthritis (Other)	0.008	0.992	0.000
M06.07 Seronegative rheumatoid arthritis (Ankle and foot)	0.008	0.992	0.000
M06.05 Seronegative rheumatoid arthritis (Pelvic region and thigh)	0.008	0.992	0.000
M06.04 Seronegative rheumatoid arthritis (Hand)	0.008	0.992	0.000
M06.03 Seronegative rheumatoid arthritis (Forearm)	0.008	0.992	0.000
M06.02 Seronegative rheumatoid arthritis (Upper arm)	0.008	0.992	0.000
M06.01 Seronegative rheumatoid arthritis (Shoulder region)	0.008	0.992	0.000
F10.3 Withdrawal state	0.000	0.992	0.008
M06.95 Rheumatoid arthritis, unspecified (Pelvic region and thigh)	0.008	0.992	0.000
F10 Mental and behavioural disorders due to use of alcohol	0.000	0.992	0.008
M06.8 Other specified rheumatoid arthritis	0.007	0.992	0.000
M06.91 Rheumatoid arthritis, unspecified (Shoulder region)	0.007	0.993	0.000
H90.5 Sensorineural hearing loss, unspecified	0.000	0.993	0.007
F10.1 Harmful use	0.000	0.993	0.007
H90 Conductive and sensorineural hearing loss	0.000	0.993	0.007
M06.2 Rheumatoid bursitis	0.007	0.993	0.000
M06.1 Adult-onset Still's disease	0.007	0.993	0.000
M06.90 Rheumatoid arthritis, unspecified (Multiple sites)	0.007	0.993	0.000
F10.0 Acute intoxication	0.000	0.993	0.007
M06.97 Rheumatoid arthritis, unspecified (Ankle and foot)	0.007	0.993	0.000
R93.4 Abnormal findings on diagnostic imaging of urinary organs	0.006	0.994	0.000
M06.89 Other specified rheumatoid arthritis (Site unspecified)	0.006	0.994	0.000
Z83.5 Family history of eye and ear disorders	0.006	0.994	0.000
M06.3 Rheumatoid nodule	0.006	0.994	0.000
M06.99 Rheumatoid arthritis, unspecified (Site unspecified)	0.006	0.994	0.000
Q24 Other congenital malformations of heart	0.006	0.994	0.000
Q20-Q28 Congenital malformations of the circulatory system	0.006	0.994	0.000
H90.7 Mixed conductive and sensorineural hearing loss, unilateral with unrestricted hearing on the contralateral side	0.000	0.994	0.006
Q24.9 Congenital malformation of the heart, unspecified	0.006	0.994	0.000
F10.7 Residual and late-onset psychotic disorder	0.000	0.994	0.006
H90.6 Mixed conductive and sensorineural hearing loss, bilateral	0.000	0.994	0.006
M06.88 Other specified rheumatoid arthritis (Other)	0.006	0.994	0.000
M06.87 Other specified rheumatoid arthritis (Ankle and foot)	0.006	0.994	0.000
M06.86 Other specified rheumatoid arthritis (Lower leg)	0.006	0.994	0.000
M06.85 Other specified rheumatoid arthritis (Pelvic region and thigh)	0.006	0.994	0.000
M06.84 Other specified rheumatoid arthritis (Hand)	0.006	0.994	0.000
M06.83 Other specified rheumatoid arthritis (Forearm)	0.006	0.994	0.000
M06.82 Other specified rheumatoid arthritis (Upper arm)	0.006	0.994	0.000
M06.81 Other specified rheumatoid arthritis (Shoulder region)	0.006	0.994	0.000
M06.80 Other specified rheumatoid arthritis (Multiple sites)	0.006	0.994	0.000
H90.3 Sensorineural hearing loss, bilateral	0.000	0.994	0.006
M53.38 Sacrococcygeal disorders, not elsewhere classified-Sacral/s	0.000	0.994	0.006
F10.9 Unspecified mental and behavioural disorder	0.000	0.994	0.005
M06.4 Inflammatory polyarthropathy	0.005	0.995	0.000
F10.4 Withdrawal state with delirium	0.000	0.995	0.005
Y40.0 Penicillins	0.005	0.995	0.000
M06.19 Adult-onset Still's disease (Site unspecified)	0.005	0.995	0.000
M06.18 Adult-onset Still's disease (Other)	0.005	0.995	0.000
M06.17 Adult-onset Still's disease (Ankle and foot)	0.005	0.995	0.000
M06.16 Adult-onset Still's disease (Lower leg)	0.005	0.995	0.000
M06.15 Adult-onset Still's disease (Pelvic region and thigh)	0.005	0.995	0.000
M06.14 Adult-onset Still's disease (Hand)	0.005	0.995	0.000
M06.13 Adult-onset Still's disease (Forearm)	0.005	0.995	0.000
M06.12 Adult-onset Still's disease (Upper arm)	0.005	0.995	0.000
M06.11 Adult-onset Still's disease (Shoulder region)	0.005	0.995	0.000
M06.10 Adult-onset Still's disease (Multiple sites)	0.005	0.995	0.000
M06.29 Rheumatoid bursitis (Site unspecified)	0.005	0.995	0.000
M06.28 Rheumatoid bursitis (Other)	0.005	0.995	0.000
M06.27 Rheumatoid bursitis (Ankle and foot)	0.005	0.995	0.000
M06.26 Rheumatoid bursitis (Lower leg)	0.005	0.995	0.000
M06.25 Rheumatoid bursitis (Pelvic region and thigh)	0.005	0.995	0.000
M06.24 Rheumatoid bursitis (Hand)	0.005	0.995	0.000
M06.23 Rheumatoid bursitis (Forearm)	0.005	0.995	0.000
M06.22 Rheumatoid bursitis (Upper arm)	0.005	0.995	0.000
M06.21 Rheumatoid bursitis (Shoulder region)	0.005	0.995	0.000
M06.20 Rheumatoid bursitis (Multiple sites)	0.005	0.995	0.000
F10.6 Amnesic syndrome	0.000	0.995	0.005
Q28 Other congenital malformations of circulatory system	0.005	0.995	0.000
Q27 Other congenital malformations of peripheral vascular system	0.005	0.995	0.000
Q23 Congenital malformations of aortic and mitral valves	0.005	0.995	0.000
Q24.5 Malformation of coronary vessels	0.005	0.995	0.000
M06.37 Rheumatoid nodule (Ankle and foot)	0.005	0.995	0.000
H90.8 Mixed conductive and sensorineural hearing loss, unspecified	0.000	0.995	0.005
N76.4 Abscess of vulva	0.000	0.995	0.005
T81.4 Infection following a procedure, not elsewhere classified	0.000	0.995	0.005
Q27.9 Congenital malformation of peripheral vascular system, unspecified	0.005	0.995	0.000
Q25 Congenital malformations of great arteries	0.005	0.995	0.000
Q24.0 Dextrocardia	0.005	0.995	0.000
R23.4 Changes in skin texture	0.000	0.995	0.005
M06.39 Rheumatoid nodule (Site unspecified)	0.005	0.995	0.000
M06.38 Rheumatoid nodule (Other)	0.005	0.995	0.000
M06.36 Rheumatoid nodule (Lower leg)	0.005	0.995	0.000
M06.35 Rheumatoid nodule (Pelvic region and thigh)	0.005	0.995	0.000
M06.33 Rheumatoid nodule (Forearm)	0.005	0.995	0.000
M06.31 Rheumatoid nodule (Shoulder region)	0.005	0.995	0.000
M06.30 Rheumatoid nodule (Multiple sites)	0.005	0.995	0.000
H90.4 Sensorineural hearing loss, unilateral with unrestricted hearing on the contralateral side	0.000	0.995	0.005
R23.1 Pallor	0.000	0.995	0.005
Q22 Congenital malformations of pulmonary and tricuspid valves	0.005	0.995	0.000
R23 Other skin changes	0.000	0.995	0.005
Q23.1 Congenital insufficiency of aortic valve	0.005	0.995	0.000
Q28.3 Other malformations of cerebral vessels	0.004	0.995	0.000
Q24.6 Congenital heart block	0.004	0.995	0.000
Q24.4 Congenital subaortic stenosis	0.004	0.995	0.000
Q24.3 Pulmonary infundibular stenosis	0.004	0.995	0.000
Q24.2 Cor triatriatum	0.004	0.995	0.000
Q24.1 Levocardia	0.004	0.995	0.000
Q26 Congenital malformations of great veins	0.004	0.995	0.000
Q20 Congenital malformations of cardiac chambers and connexions	0.004	0.995	0.000
H90.0 Conductive hearing loss, bilateral	0.000	0.996	0.004
F10.5 Psychotic disorder	0.000	0.996	0.004
Q28.0 Arteriovenous malformation of precerebral vessels	0.004	0.996	0.000
R23.0 Cyanosis	0.000	0.996	0.004
F10.8 Other mental and behavioural disorders	0.000	0.996	0.004
M06.48 Inflammatory polyarthropathy (Other)	0.004	0.996	0.000
M06.47 Inflammatory polyarthropathy (Ankle and foot)	0.004	0.996	0.000
M06.46 Inflammatory polyarthropathy (Lower leg)	0.004	0.996	0.000
M06.45 Inflammatory polyarthropathy (Pelvic region and thigh)	0.004	0.996	0.000
M06.44 Inflammatory polyarthropathy (Hand)	0.004	0.996	0.000
M06.43 Inflammatory polyarthropathy (Forearm)	0.004	0.996	0.000
M06.42 Inflammatory polyarthropathy (Upper arm)	0.004	0.996	0.000
M06.41 Inflammatory polyarthropathy (Shoulder region)	0.004	0.996	0.000
M06.34 Rheumatoid nodule (Hand)	0.004	0.996	0.000
H02.6 Xanthelasma of eyelid	0.000	0.996	0.004
M06.32 Rheumatoid nodule (Upper arm)	0.004	0.996	0.000
Q25.0 Patent ductus arteriosus	0.004	0.996	0.000
R60.0 Localised oedema	0.000	0.996	0.004
Q27.3 Peripheral arteriovenous malformation	0.004	0.996	0.000
Q28.9 Congenital malformation of circulatory system, unspecified	0.004	0.996	0.000
Q28.8 Other specified congenital malformations of circulatory system	0.004	0.996	0.000
Q28.1 Other malformations of precerebral vessels	0.004	0.996	0.000
Q21 Congenital malformations of cardiac septa	0.004	0.996	0.000
Q23.0 Congenital stenosis of aortic valve	0.004	0.996	0.000
Q27.4 Congenital phlebectasia	0.004	0.996	0.000
Q27.2 Other congenital malformations of renal artery	0.004	0.996	0.000
Q27.1 Congenital renal artery stenosis	0.004	0.996	0.000
Q27.0 Congenital absence and hypoplasia of umbilical artery	0.004	0.996	0.000
N48.1 Balanoposthitis	0.000	0.996	0.004
F52.2 Failure of genital response	0.004	0.996	0.000
Q23.9 Congenital malformation of aortic and mitral valves, unspecified	0.004	0.996	0.000
Q23.8 Other congenital malformations of aortic and mitral valves	0.004	0.996	0.000
Q23.4 Hypoplastic left heart syndrome	0.004	0.996	0.000
Q23.3 Congenital mitral insufficiency	0.004	0.996	0.000
Q23.2 Congenital mitral stenosis	0.004	0.996	0.000
Q25.3 Stenosis of aorta	0.004	0.996	0.000
Q24.8 Other specified congenital malformations of heart	0.004	0.996	0.000
Q28.2 Arteriovenous malformation of cerebral vessels	0.004	0.996	0.000
R23.3 Spontaneous ecchymoses	0.000	0.996	0.004
Chapter XVII Congenital malformations, deformations and chromosomal abnormalities	0.004	0.996	0.000
Q22.1 Congenital pulmonary valve stenosis	0.004	0.996	0.000
Q27.8 Other specified congenital malformations of peripheral vascular system	0.004	0.996	0.000
Q10-Q18 Congenital malformations of eye, ear, face and neck	0.004	0.996	0.000
M06.40 Inflammatory polyarthropathy (Multiple sites)	0.003	0.996	0.000
Q18.1 Preauricular sinus and cyst	0.004	0.996	0.000
Q25.6 Stenosis of pulmonary artery	0.004	0.996	0.000
Q25.9 Congenital malformation of great arteries, unspecified	0.004	0.996	0.000
Q25.8 Other congenital malformations of great arteries	0.004	0.996	0.000
Q25.7 Other congenital malformations of pulmonary artery	0.004	0.996	0.000
Q25.5 Atresia of pulmonary artery	0.004	0.996	0.000
Q25.2 Atresia of aorta	0.004	0.996	0.000
R23.8 Other and unspecified skin changes	0.000	0.996	0.004
R23.2 Flushing	0.000	0.996	0.004
Q18 Other congenital malformations of face and neck	0.004	0.996	0.000
Q22.9 Congenital malformation of tricuspid valve, unspecified	0.003	0.996	0.000
Q22.8 Other congenital malformations of tricuspid valve	0.003	0.996	0.000
Q22.6 Hypoplastic right heart syndrome	0.003	0.996	0.000
Q22.5 Ebstein's anomaly	0.003	0.996	0.000
Q22.4 Congenital tricuspid stenosis	0.003	0.996	0.000
Q22.3 Other congenital malformations of pulmonary valve	0.003	0.996	0.000
Q22.2 Congenital pulmonary valve insufficiency	0.003	0.996	0.000
Q22.0 Pulmonary valve atresia	0.003	0.996	0.000
B99 Other and unspecified infectious diseases	0.004	0.996	0.000
Q90-Q99 Chromosomal abnormalities, not elsewhere classified	0.004	0.996	0.000
Q25.4 Other congenital malformations of aorta	0.003	0.996	0.000
Q20.9 Congenital malformation of cardiac chambers and connexions, unspecified	0.003	0.996	0.000
Q20.8 Other congenital malformations of cardiac chambers and connexions	0.003	0.996	0.000
Q20.6 Isomerism of atrial appendages	0.003	0.996	0.000
Q20.5 Discordant atrioventricular connexion	0.003	0.996	0.000
Q20.4 Double inlet ventricle	0.003	0.996	0.000
Q20.3 Discordant ventriculoarterial connexion	0.003	0.996	0.000
Q20.2 Double outlet left ventricle	0.003	0.996	0.000
Q20.1 Double outlet right ventricle	0.003	0.996	0.000
Q20.0 Common arterial trunk	0.003	0.996	0.000
Q26.9 Congenital malformation of great vein, unspecified	0.003	0.996	0.000
Q26.8 Other congenital malformations of great veins	0.003	0.996	0.000
Q26.6 Portal vein-hepatic artery fistula	0.003	0.996	0.000
Q26.5 Anomalous portal venous connexion	0.003	0.996	0.000
Q26.4 Anomalous pulmonary venous connexion, unspecified	0.003	0.996	0.000
Q26.3 Partial anomalous pulmonary venous connexion	0.003	0.996	0.000
Q26.2 Total anomalous pulmonary venous connexion	0.003	0.996	0.000
Q26.1 Persistent left superior vena cava	0.003	0.996	0.000
Q26.0 Congenital stenosis of vena cava	0.003	0.996	0.000
M06.49 Inflammatory polyarthropathy (Site unspecified)	0.003	0.997	0.000
H61.0 Perichondritis of external ear	0.000	0.997	0.003
Q21.3 Tetralogy of Fallot	0.003	0.997	0.000
Q25.1 Coarctation of aorta	0.003	0.997	0.000
Q12 Congenital lens malformations	0.003	0.997	0.000
Q90 Down's syndrome	0.003	0.997	0.000
M53.3 Sacrococcygeal disorders, not elsewhere classified	0.000	0.997	0.003
Q21.9 Congenital malformation of cardiac septum, unspecified	0.003	0.997	0.000
Q21.8 Other congenital malformations of cardiac septa	0.003	0.997	0.000
Q21.4 Aortopulmonary septal defect	0.003	0.997	0.000
Q21.2 Atrioventricular septal defect	0.003	0.997	0.000
Q65-Q79 Congenital malformations and deformations of the musculoskeletal system	0.003	0.997	0.000
Q51 Congenital malformations of uterus and cervix	0.003	0.997	0.000
D86.9 Sarcoidosis, unspecified	0.000	0.997	0.003
D60-D64 Aplastic and other anaemias	0.000	0.997	0.003
H61.1 Non-infective disorders of pinna	0.000	0.997	0.003
Q96 Turner's syndrome	0.003	0.997	0.000
Q50-Q56 Congenital malformations of genital organs	0.003	0.997	0.000
Q38-Q45 Other congenital malformations of the digestive system	0.003	0.997	0.000
H61 Other disorders of external ear	0.000	0.997	0.003
H90.1 Conductive hearing loss, unilateral with unrestricted hearing on the contralateral side	0.000	0.997	0.003
Q21.0 Ventricular septal defect	0.003	0.997	0.000
Q14 Congenital malformations of posterior segment of eye	0.003	0.997	0.000
M25.78 Osteophyte (Other)	0.000	0.997	0.003
N76.0 Acute vaginitis	0.000	0.997	0.003
Q90.9 Down's syndrome, unspecified	0.003	0.997	0.000
Z95.0 Presence of cardiac pacemaker	0.003	0.997	0.000
N76 Other inflammation of vagina and vulva	0.000	0.997	0.003
Q15 Other congenital malformations of eye	0.003	0.997	0.000
Q35-Q37 Cleft lip and cleft palate	0.003	0.997	0.000
Q30-Q34 Congenital malformations of the respiratory system	0.003	0.997	0.000
Q67 Congenital musculoskeletal deformities of head, face, spine and chest	0.003	0.997	0.000
Q00-Q07 Congenital malformations of the nervous system	0.003	0.997	0.000
H73.8 Other specified disorders of tympanic membrane	0.000	0.997	0.003
K82 Other diseases of gallbladder	0.000	0.997	0.003
Q17 Other congenital malformations of ear	0.003	0.997	0.000
Q16 Congenital malformations of ear causing impairment of hearing	0.003	0.997	0.000
Q13 Congenital malformations of anterior segment of eye	0.003	0.997	0.000
Q11 Anophthalmos, microphthalmos and macrophthalmos	0.003	0.997	0.000
M96.0 Pseudarthrosis after fusion or arthrodesis	0.000	0.997	0.003
Q79 Congenital malformations of musculoskeletal system, not elsewhere classified	0.003	0.997	0.000
Q12.0 Congenital cataract	0.003	0.997	0.000
Q98 Other sex chromosome abnormalities, male phenotype, not elsewhere classified	0.003	0.997	0.000
K82.8 Other specified diseases of gallbladder	0.000	0.997	0.003
K82.2 Perforation of gallbladder	0.000	0.997	0.003
N76.2 Acute vulvitis	0.000	0.997	0.003
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
Q51.3 Bicornate uterus	0.003	0.997	0.000
Q79.6 Ehlers-Danlos syndrome	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
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
K82.9 Disease of gallbladder, unspecified	0.000	0.997	0.003
L02.2 Cutaneous abscess, furuncle and carbuncle of trunk	0.003	0.997	0.000
O32.0 Maternal care for unstable lie	0.000	0.997	0.003
Q77 Osteochondrodysplasia with defects of growth of tubular bones and spine	0.003	0.997	0.000
H61.9 Disorder of external ear, unspecified	0.000	0.997	0.003
Q18.0 Sinus, fistula and cyst of branchial cleft	0.003	0.997	0.000
Q51.2 Other doubling of uterus	0.003	0.997	0.000
Q96.9 Turner's syndrome, unspecified	0.003	0.997	0.000
Q67.5 Congenital deformity of spine	0.003	0.997	0.000
Q10 Congenital malformations of eyelid, lachrymal apparatus and orbit	0.003	0.997	0.000
Q40 Other congenital malformations of upper alimentary tract	0.003	0.997	0.000
H61.3 Acquired stenosis of external ear canal	0.000	0.997	0.003
Q51.4 Unicornate uterus	0.003	0.997	0.000
Q43 Other congenital malformations of intestine	0.003	0.997	0.000
K82.3 Fistula of gallbladder	0.000	0.997	0.003
Z80.1 Family history of malignant neoplasm of trachea, bronchus and lung	0.003	0.997	0.000
K82.4 Cholesterolosis of gallbladder	0.000	0.997	0.003
K82.1 Hydrops of gallbladder	0.000	0.997	0.003
Q67.6 Pectus excavatum	0.003	0.997	0.000
Q04 Other congenital malformations of brain	0.002	0.997	0.000
Q74 Other congenital malformations of limb(s)	0.003	0.997	0.000
Q12.9 Congenital lens malformation, unspecified	0.002	0.997	0.000
Q12.8 Other congenital lens malformations	0.002	0.997	0.000
Q12.4 Spherophakia	0.002	0.997	0.000
Q12.3 Congenital aphakia	0.002	0.997	0.000
Q12.2 Coloboma of lens	0.002	0.997	0.000
Q12.1 Congenital displaced lens	0.002	0.997	0.000
K63.1 Perforation of intestine (nontraumatic)	0.000	0.997	0.003
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
Q80-Q89 Other congenital malformations	0.003	0.997	0.000
N76.3 Subacute and chronic vulvitis	0.000	0.997	0.003
Q43.8 Other specified congenital malformations of intestine	0.003	0.997	0.000
Q51.8 Other congenital malformations of uterus and cervix	0.002	0.997	0.000
R68.8 Other specified general symptoms and signs	0.000	0.997	0.003
N61 Inflammatory disorders of breast	0.000	0.997	0.003
Q68 Other congenital musculoskeletal deformities	0.002	0.997	0.000
M53.37 Sacrococcygeal disorders, not elsewhere classified-Lumbosac	0.000	0.997	0.002
M53.36 Sacrococcygeal disorders, not elsewhere classified-Lumbar	0.000	0.997	0.002
M53.35 Sacrococcygeal disorders, not elsewhere classified-Thoracol	0.000	0.997	0.002
M53.34 Sacrococcygeal disorders, not elsewhere classified-Thoracic	0.000	0.997	0.002
M53.33 Sacrococcygeal disorders, not elsewhere classified-Cervicot	0.000	0.997	0.002
M53.32 Sacrococcygeal disorders, not elsewhere classified-Cervical	0.000	0.997	0.002
M53.31 Sacrococcygeal disorders, not elsewhere classified-Occipit-	0.000	0.997	0.002
M53.30 Sacrococcygeal disorders, not elsewhere classified-Mult sit	0.000	0.997	0.002
S99.9 Unspecified injury of ankle and foot	0.003	0.997	0.000
Q51.9 Congenital malformation of uterus and cervix, unspecified	0.002	0.997	0.000
Q51.7 Congenital fistulae between uterus and digestive and urinary tracts	0.002	0.997	0.000
Q51.6 Embryonic cyst of cervix	0.002	0.997	0.000
Q51.5 Agenesis and aplasia of cervix	0.002	0.997	0.000
Q51.1 Doubling of uterus with doubling of cervix and vagina	0.002	0.997	0.000
Q51.0 Agenesis and aplasia of uterus	0.002	0.997	0.000
Q77.4 Achondroplasia	0.002	0.997	0.000
Q75 Other congenital malformations of skull and face bones	0.002	0.997	0.000
Q73 Reduction defects of unspecified limb	0.002	0.997	0.000
Q72 Reduction defects of lower limb	0.002	0.997	0.000
Q71 Reduction defects of upper limb	0.002	0.997	0.000
Q70 Syndactyly	0.002	0.997	0.000
Q69 Polydactyly	0.002	0.997	0.000
Q14.1 Congenital malformation of retina	0.002	0.997	0.000
Q55 Other congenital malformations of male genital organs	0.002	0.997	0.000
M53.39 Sacrococcygeal disorders, not elsewhere classified-Site uns	0.000	0.997	0.002
Q21.1 Atrial septal defect	0.003	0.997	0.000
D60 Acquired pure red cell aplasia [erythroblastopenia]	0.000	0.997	0.002
Q45 Other congenital malformations of digestive system	0.002	0.997	0.000
Q42 Congenital absence, atresia and stenosis of large intestine	0.002	0.997	0.000
Q41 Congenital absence, atresia and stenosis of small intestine	0.002	0.997	0.000
Q56 Indeterminate sex and pseudohermaphroditism	0.002	0.997	0.000
Q40.2 Other specified congenital malformations of stomach	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
Q05 Spina bifida	0.002	0.997	0.000
Q78 Other osteochondrodysplasias	0.002	0.997	0.000
Q14.9 Congenital malformation of posterior segment of eye, unspecified	0.002	0.998	0.000
Q14.8 Other congenital malformations of posterior segment of eye	0.002	0.998	0.000
Q14.3 Congenital malformation of choroid	0.002	0.998	0.000
Q14.2 Congenital malformation of optic disk	0.002	0.998	0.000
Q14.0 Congenital malformation of vitreous humour	0.002	0.998	0.000
Q15.0 Congenital glaucoma	0.002	0.998	0.000
K11.5 Sialolithiasis	0.000	0.998	0.002
N76.8 Other specified inflammation of vagina and vulva	0.000	0.998	0.002
Q15.9 Congenital malformation of eye, unspecified	0.002	0.998	0.000
Q15.8 Other specified congenital malformations of eye	0.002	0.998	0.000
Q43.3 Congenital malformations of intestinal fixation	0.002	0.998	0.000
Q98.4 Klinefelter's syndrome, unspecified	0.002	0.998	0.000
Q06 Other congenital malformations of spinal cord	0.002	0.998	0.000
Q03 Congenital hydrocephalus	0.002	0.998	0.000
Q01 Encephalocele	0.002	0.998	0.000
Q00 Anencephaly and similar malformations	0.002	0.998	0.000
Q02 Microcephaly	0.002	0.998	0.000
Q34 Other congenital malformations of respiratory system	0.002	0.998	0.000
Q33 Congenital malformations of lung	0.002	0.998	0.000
Q32 Congenital malformations of trachea and bronchus	0.002	0.998	0.000
Q31 Congenital malformations of larynx	0.002	0.998	0.000
Q30 Congenital malformations of nose	0.002	0.998	0.000
Q37 Cleft palate with cleft lip	0.002	0.998	0.000
Q36 Cleft lip	0.002	0.998	0.000
Q35 Cleft palate	0.002	0.998	0.000
Q39 Congenital malformations of oesophagus	0.002	0.998	0.000
Q53 Undescended testicle	0.002	0.998	0.000
Q85 Phakomatoses, not elsewhere classified	0.002	0.998	0.000
Q67.8 Other congenital deformities of chest	0.002	0.998	0.000
Q67.7 Pectus carinatum	0.002	0.998	0.000
Q67.4 Other congenital deformities of skull, face and jaw	0.002	0.998	0.000
Q67.3 Plagiocephaly	0.002	0.998	0.000
Q67.2 Dolichocephaly	0.002	0.998	0.000
Q67.1 Compression facies	0.002	0.998	0.000
Q67.0 Facial asymmetry	0.002	0.998	0.000
Q11.3 Macrophthalmos	0.002	0.998	0.000
Q11.2 Microphthalmos	0.002	0.998	0.000
Q11.1 Other anophthalmos	0.002	0.998	0.000
Q11.0 Cystic eyeball	0.002	0.998	0.000
Q13.9 Congenital malformation of anterior segment of eye, unspecified	0.002	0.998	0.000
Q13.8 Other congenital malformations of anterior segment of eye	0.002	0.998	0.000
Q13.5 Blue sclera	0.002	0.998	0.000
Q13.4 Other congenital corneal malformations	0.002	0.998	0.000
Q13.3 Congenital corneal opacity	0.002	0.998	0.000
Q13.2 Other congenital malformations of iris	0.002	0.998	0.000
Q13.1 Absence of iris	0.002	0.998	0.000
Q13.0 Coloboma of iris	0.002	0.998	0.000
Q16.9 Congenital malformation of ear causing impairment of hearing, unspecified	0.002	0.998	0.000
Q16.5 Congenital malformation of inner ear	0.002	0.998	0.000
Q16.4 Other congenital malformations of middle ear	0.002	0.998	0.000
Q16.3 Congenital malformation of ear ossicles	0.002	0.998	0.000
Q16.2 Absence of eustachian tube	0.002	0.998	0.000
Q16.1 Congenital absence, atresia and stricture of auditory canal (external)	0.002	0.998	0.000
Q16.0 Congenital absence of (ear) auricle	0.002	0.998	0.000
Q17.9 Congenital malformation of ear, unspecified	0.002	0.998	0.000
Q17.8 Other specified congenital malformations of ear	0.002	0.998	0.000
Q17.4 Misplaced ear	0.002	0.998	0.000
Q17.3 Other misshapen ear	0.002	0.998	0.000
Q17.2 Microtia	0.002	0.998	0.000
Q17.1 Macrotia	0.002	0.998	0.000
Q17.0 Accessory auricle	0.002	0.998	0.000
F52 Sexual dysfunction, not caused by organic disorder or disease	0.002	0.998	0.000
Q04.6 Congenital cerebral cysts	0.002	0.998	0.000
Q17.5 Prominent ear	0.002	0.998	0.000
Q52 Other congenital malformations of female genitalia	0.002	0.998	0.000
H54.7 Unspecified visual loss	0.000	0.998	0.002
H61.8 Other specified disorders of external ear	0.000	0.998	0.002
Q79.9 Congenital malformation of musculoskeletal system, unspecified	0.002	0.998	0.000
Q79.5 Other congenital malformations of abdominal wall	0.002	0.998	0.000
Q79.4 Prune belly syndrome	0.002	0.998	0.000
Q79.3 Gastroschisis	0.002	0.998	0.000
Q79.2 Exomphalos	0.002	0.998	0.000
Q79.1 Other congenital malformations of diaphragm	0.002	0.998	0.000
Q79.0 Congenital diaphragmatic hernia	0.002	0.998	0.000
Q85.0 Neurofibromatosis (nonmalignant)	0.002	0.998	0.000
Q98.9 Sex chromosome abnormality, male phenotype, unspecified	0.002	0.998	0.000
Q98.8 Other specified sex chromosome abnormalities, male phenotype	0.002	0.998	0.000
Q98.7 Male with sex chromosome mosaicism	0.002	0.998	0.000
Q98.6 Male with structurally abnormal sex chromosome	0.002	0.998	0.000
Q98.5 Karyotype 47,XYY	0.002	0.998	0.000
Q98.3 Other male with 46,XX karyotype	0.002	0.998	0.000
Q98.2 Klinefelter's syndrome, male with 46,XX karyotype	0.002	0.998	0.000
Q98.1 Klinefelter's syndrome, male with more than two X chromosomes	0.002	0.998	0.000
Q98.0 Klinefelter's syndrome karyotype 47,XXY	0.002	0.998	0.000
C45.0 Mesothelioma of pleura	0.002	0.998	0.000
K82.0 Obstruction of gallbladder	0.000	0.998	0.002
Q91.7 Patau's syndrome, unspecified	0.002	0.998	0.000
Q91.6 Trisomy 13, translocation	0.002	0.998	0.000
Q91.5 Trisomy 13, mosaicism (mitotic nondisjunction)	0.002	0.998	0.000
Q91.4 Trisomy 13, meiotic nondisjunction	0.002	0.998	0.000
Q91.3 Edwards' syndrome, unspecified	0.002	0.998	0.000
Q91.2 Trisomy 18, translocation	0.002	0.998	0.000
Q91.1 Trisomy 18, mosaicism (mitotic nondisjunction)	0.002	0.998	0.000
Q91.0 Trisomy 18, meiotic nondisjunction	0.002	0.998	0.000
Q92.9 Trisomy and partial trisomy of autosomes, unspecified	0.002	0.998	0.000
Q92.8 Other specified trisomies and partial trisomies of autosomes	0.002	0.998	0.000
Q92.7 Triploidy and polyploidy	0.002	0.998	0.000
Q92.6 Extra marker chromosomes	0.002	0.998	0.000
Q92.5 Duplications with other complex rearrangements	0.002	0.998	0.000
Q92.4 Duplications seen only at prometaphase	0.002	0.998	0.000
Q92.3 Minor partial trisomy	0.002	0.998	0.000
Q92.2 Major partial trisomy	0.002	0.998	0.000
Q92.1 Whole chromosome trisomy, mosaicism (mitotic nondisjunction)	0.002	0.998	0.000
Q92.0 Whole chromosome trisomy, meiotic nondisjunction	0.002	0.998	0.000
Q93.9 Deletion from autosomes, unspecified	0.002	0.998	0.000
Q93.8 Other deletions from the autosomes	0.002	0.998	0.000
Q93.7 Deletions with other complex rearrangements	0.002	0.998	0.000
Q93.6 Deletions seen only at prometaphase	0.002	0.998	0.000
Q93.5 Other deletions of part of a chromosome	0.002	0.998	0.000
Q93.4 Deletion of short arm of chromosome 5	0.002	0.998	0.000
Q93.3 Deletion of short arm of chromosome 4	0.002	0.998	0.000
Q93.2 Chromosome replaced with ring or dicentric	0.002	0.998	0.000
Q93.1 Whole chromosome monosomy, mosaicism (mitotic nondisjunction)	0.002	0.998	0.000
Q93.0 Whole chromosome monosomy, meiotic nondisjunction	0.002	0.998	0.000
Q95.9 Balanced rearrangement and structural marker, unspecified	0.002	0.998	0.000
Q95.8 Other balanced rearrangements and structural markers	0.002	0.998	0.000
Q95.5 Individuals with autosomal fragile site	0.002	0.998	0.000
Q95.4 Individuals with marker heterochromatin	0.002	0.998	0.000
Q95.3 Balanced sex/autosomal rearrangement in abnormal individual	0.002	0.998	0.000
Q95.2 Balanced autosomal rearrangement in abnormal individual	0.002	0.998	0.000
Q95.1 Chromosome inversion in normal individual	0.002	0.998	0.000
Q95.0 Balanced translocation and insertion in normal individual	0.002	0.998	0.000
Q97.9 Sex chromosome abnormality, female phenotype, unspecified	0.002	0.998	0.000
Q97.8 Other specified sex chromosome abnormalities, female phenotype	0.002	0.998	0.000
Q97.3 Female with 46,XY karyotype	0.002	0.998	0.000
Q97.2 Mosaicism, lines with various numbers of X chromosomes	0.002	0.998	0.000
Q97.1 Female with more than three X chromosomes	0.002	0.998	0.000
Q97.0 Karyotype 47,XXX	0.002	0.998	0.000
Q99.9 Chromosomal abnormality, unspecified	0.002	0.998	0.000
Q99.8 Other specified chromosome abnormalities	0.002	0.998	0.000
Q99.2 Fragile X chromosome	0.002	0.998	0.000
Q99.1 46,XX true hermaphrodite	0.002	0.998	0.000
Q99.0 Chimera 46,XX/46,XY	0.002	0.998	0.000
Q50 Congenital malformations of ovaries, Fallopian tubes and broad ligaments	0.002	0.998	0.000
Q76 Congenital malformations of spine and bony thorax	0.002	0.998	0.000
Q74.0 Other congenital malformations of upper limb(s), including shoulder girdle	0.002	0.998	0.000
Q79.8 Other congenital malformations of musculoskeletal system	0.002	0.998	0.000
Q77.9 Osteochondrodysplasia with defects of growth of tubular bones and spine, unspecified	0.002	0.998	0.000
Q77.8 Other osteochondrodysplasia with defects of growth of tubular bones and spine	0.002	0.998	0.000
Q77.7 Spondyloepiphyseal dysplasia	0.002	0.998	0.000
Q77.6 Chondroectodermal dysplasia	0.002	0.998	0.000
Q77.5 Diastrophic dysplasia	0.002	0.998	0.000
Q77.3 Chondrodysplasia punctata	0.002	0.998	0.000
Q77.2 Short rib syndrome	0.002	0.998	0.000
Q77.1 Thanatophoric short stature	0.002	0.998	0.000
Q77.0 Achondrogenesis	0.002	0.998	0.000
T93.2 Sequelae of other fractures of lower limb	0.000	0.998	0.002
Q44 Congenital malformations of gallbladder, bile ducts and liver	0.002	0.998	0.000
H54.0 Blindness, both eyes	0.000	0.998	0.002
Q10.7 Congenital malformation of orbit	0.002	0.998	0.000
Q10.6 Other congenital malformations of lachrymal apparatus	0.002	0.998	0.000
Q10.5 Congenital stenosis and stricture of lachrymal duct	0.002	0.998	0.000
Q10.4 Absence and agenesis of lachrymal apparatus	0.002	0.998	0.000
Q10.3 Other congenital malformations of eyelid	0.002	0.998	0.000
Q10.2 Congenital entropion	0.002	0.998	0.000
Q10.1 Congenital ectropion	0.002	0.998	0.000
Q40.9 Congenital malformation of upper alimentary tract, unspecified	0.002	0.998	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