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Variant clusters
Hospitalization Episode Statistics (HES)
Genetic variants: 36,212
Diagnostic terms: × 19,155
Association results: = 693,640,860
Self-Reported Statistics (SRS)
Genetic variants: 28,458
Diagnostic terms: × 474
Association results: = 13,489,092
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Variant-specific associations

rs12510251
log Bayes Factor = 0.0106661
Chromosome 4   position 183,614,584  (GRCh37) Explore rs12510251 on Ensembl!
Variant rs12510251 is listed in the   GWAS Catalog   ⇪

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
  
I35.2 Aortic (valve) stenosis with insufficiency
0.000 0.902 0.098
I35 Nonrheumatic aortic valve disorders
0.000 0.905 0.095
I35.0 Aortic (valve) stenosis
0.000 0.912 0.088
I35.1 Aortic (valve) insufficiency
0.000 0.914 0.086
I35.8 Other aortic valve disorders
0.000 0.918 0.082
I35.9 Aortic valve disorder, unspecified
0.000 0.921 0.079
Q21.1 Atrial septal defect
0.000 0.935 0.065
E04.9 Non-toxic goitre, unspecified
0.057 0.943 0.000
Q21 Congenital malformations of cardiac septa
0.000 0.966 0.034
Q21.9 Congenital malformation of cardiac septum, unspecified
0.000 0.976 0.024
Q21.8 Other congenital malformations of cardiac septa
0.000 0.976 0.024
Q21.4 Aortopulmonary septal defect
0.000 0.976 0.024
Q21.3 Tetralogy of Fallot
0.000 0.976 0.024
Q21.2 Atrioventricular septal defect
0.000 0.976 0.024
Q21.0 Ventricular septal defect
0.000 0.979 0.021
C77.0 Lymph nodes of head, face and neck
0.000 0.983 0.017
Q20-Q28 Congenital malformations of the circulatory system
0.000 0.984 0.016
Q27 Other congenital malformations of peripheral vascular system
0.000 0.986 0.014
Q23 Congenital malformations of aortic and mitral valves
0.000 0.986 0.013
Q23.0 Congenital stenosis of aortic valve
0.000 0.988 0.012
Q26 Congenital malformations of great veins
0.000 0.988 0.012
Q22 Congenital malformations of pulmonary and tricuspid valves
0.000 0.988 0.012
Q20 Congenital malformations of cardiac chambers and connexions
0.000 0.988 0.012
Q27.3 Peripheral arteriovenous malformation
0.000 0.988 0.012
E04 Other non-toxic goitre
0.011 0.989 0.000
Q25 Congenital malformations of great arteries
0.000 0.989 0.011
Z22.3 Carrier of other specified bacterial diseases
0.000 0.989 0.011
Q27.8 Other specified congenital malformations of peripheral vascular system
0.000 0.989 0.010
Q27.4 Congenital phlebectasia
0.000 0.990 0.010
Q27.2 Other congenital malformations of renal artery
0.000 0.990 0.010
Q27.1 Congenital renal artery stenosis
0.000 0.990 0.010
Q27.0 Congenital absence and hypoplasia of umbilical artery
0.000 0.990 0.010
Q27.9 Congenital malformation of peripheral vascular system, unspecified
0.000 0.990 0.010
Q23.9 Congenital malformation of aortic and mitral valves, unspecified
0.000 0.990 0.010
Q23.8 Other congenital malformations of aortic and mitral valves
0.000 0.990 0.010
Q23.4 Hypoplastic left heart syndrome
0.000 0.990 0.010
Q23.3 Congenital mitral insufficiency
0.000 0.990 0.010
Q23.2 Congenital mitral stenosis
0.000 0.990 0.010
I74.3 Embolism and thrombosis of arteries of the lower extremities
0.000 0.991 0.009
Q28 Other congenital malformations of circulatory system
0.000 0.991 0.009
Q23.1 Congenital insufficiency of aortic valve
0.000 0.991 0.009
Q20.9 Congenital malformation of cardiac chambers and connexions, unspecified
0.000 0.991 0.009
Q20.8 Other congenital malformations of cardiac chambers and connexions
0.000 0.991 0.009
Q20.6 Isomerism of atrial appendages
0.000 0.991 0.009
Q20.5 Discordant atrioventricular connexion
0.000 0.991 0.009
Q20.4 Double inlet ventricle
0.000 0.991 0.009
Q20.3 Discordant ventriculoarterial connexion
0.000 0.991 0.009
Q20.2 Double outlet left ventricle
0.000 0.991 0.009
Q20.1 Double outlet right ventricle
0.000 0.991 0.009
Q20.0 Common arterial trunk
0.000 0.991 0.009
Q22.9 Congenital malformation of tricuspid valve, unspecified
0.000 0.991 0.009
Q22.8 Other congenital malformations of tricuspid valve
0.000 0.991 0.009
Q22.6 Hypoplastic right heart syndrome
0.000 0.991 0.009
Q22.5 Ebstein's anomaly
0.000 0.991 0.009
Q22.4 Congenital tricuspid stenosis
0.000 0.991 0.009
Q22.3 Other congenital malformations of pulmonary valve
0.000 0.991 0.009
Q22.2 Congenital pulmonary valve insufficiency
0.000 0.991 0.009
Q22.1 Congenital pulmonary valve stenosis
0.000 0.991 0.009
Q22.0 Pulmonary valve atresia
0.000 0.991 0.009
Q26.9 Congenital malformation of great vein, unspecified
0.000 0.991 0.009
Q26.8 Other congenital malformations of great veins
0.000 0.991 0.009
Q26.6 Portal vein-hepatic artery fistula
0.000 0.991 0.009
Q26.5 Anomalous portal venous connexion
0.000 0.991 0.009
Q26.4 Anomalous pulmonary venous connexion, unspecified
0.000 0.991 0.009
Q26.3 Partial anomalous pulmonary venous connexion
0.000 0.991 0.009
Q26.2 Total anomalous pulmonary venous connexion
0.000 0.991 0.009
Q26.1 Persistent left superior vena cava
0.000 0.991 0.009
Q26.0 Congenital stenosis of vena cava
0.000 0.991 0.009
Q24 Other congenital malformations of heart
0.000 0.991 0.009
Q61.3 Polycystic kidney, unspecified
0.000 0.992 0.008
Z13.6 Special screening examination for cardiovascular disorders
0.008 0.992 0.000
E04.8 Other specified non-toxic goitre
0.008 0.992 0.000
Q25.9 Congenital malformation of great arteries, unspecified
0.000 0.992 0.008
Q25.8 Other congenital malformations of great arteries
0.000 0.992 0.008
Q25.7 Other congenital malformations of pulmonary artery
0.000 0.992 0.008
Q25.5 Atresia of pulmonary artery
0.000 0.992 0.008
Q25.3 Stenosis of aorta
0.000 0.992 0.008
Q25.2 Atresia of aorta
0.000 0.992 0.008
Q25.0 Patent ductus arteriosus
0.000 0.992 0.008
Q25.1 Coarctation of aorta
0.000 0.992 0.008
Q80-Q89 Other congenital malformations
0.000 0.992 0.008
Q89.2 Congenital malformations of other endocrine glands
0.000 0.992 0.008
Q89 Other congenital malformations, not elsewhere classified
0.000 0.992 0.008
Q25.4 Other congenital malformations of aorta
0.000 0.992 0.008
Q61 Cystic kidney disease
0.000 0.992 0.008
Chapter XVII Congenital malformations, deformations and chromosomal abnormalities
0.000 0.992 0.008
E04.0 Non-toxic diffuse goitre
0.008 0.992 0.000
Q85 Phakomatoses, not elsewhere classified
0.000 0.992 0.008
Q25.6 Stenosis of pulmonary artery
0.000 0.992 0.007
Q61.2 Polycystic kidney, adult type
0.000 0.993 0.007
Q85.0 Neurofibromatosis (nonmalignant)
0.000 0.993 0.007
Q60-Q64 Congenital malformations of the urinary system
0.000 0.993 0.007
Q82 Other congenital malformations of skin
0.000 0.993 0.007
M75.5 Bursitis of shoulder
0.007 0.993 0.000
Q28.9 Congenital malformation of circulatory system, unspecified
0.000 0.993 0.006
Q28.8 Other specified congenital malformations of circulatory system
0.000 0.993 0.006
Q28.3 Other malformations of cerebral vessels
0.000 0.993 0.006
Q28.1 Other malformations of precerebral vessels
0.000 0.993 0.006
Q24.8 Other specified congenital malformations of heart
0.000 0.993 0.006
Q24.6 Congenital heart block
0.000 0.993 0.006
Q24.4 Congenital subaortic stenosis
0.000 0.993 0.006
Q24.3 Pulmonary infundibular stenosis
0.000 0.993 0.006
Q24.2 Cor triatriatum
0.000 0.993 0.006
Q24.1 Levocardia
0.000 0.993 0.006
Q82.5 Congenital nonneoplastic naevus
0.000 0.994 0.006
Q28.0 Arteriovenous malformation of precerebral vessels
0.000 0.994 0.006
Q85.9 Phakomatosis, unspecified
0.000 0.994 0.006
Q90-Q99 Chromosomal abnormalities, not elsewhere classified
0.000 0.994 0.006
Q24.0 Dextrocardia
0.000 0.994 0.006
Q86 Congenital malformation syndromes due to known exogenous causes, not elsewhere classified
0.000 0.994 0.006
Q84 Other congenital malformations of integument
0.000 0.994 0.006
Q81 Epidermolysis bullosa
0.000 0.994 0.006
Q80 Congenital ichthyosis
0.000 0.994 0.006
Y45.3 Other nonsteroidal anti-inflammatory drugs [NSAID]
0.000 0.994 0.006
E07.9 Disorder of thyroid, unspecified
0.006 0.994 0.000
Q89.9 Congenital malformation, unspecified
0.000 0.994 0.006
Q89.8 Other specified congenital malformations
0.000 0.994 0.006
Q89.7 Multiple congenital malformations, not elsewhere classified
0.000 0.994 0.006
Q89.4 Conjoined twins
0.000 0.994 0.006
Q89.3 Situs inversus
0.000 0.994 0.006
Q89.1 Congenital malformations of adrenal gland
0.000 0.994 0.006
Q89.0 Congenital malformations of spleen
0.000 0.994 0.006
Z51.5 Palliative care
0.000 0.994 0.006
Q24.5 Malformation of coronary vessels
0.000 0.994 0.006
Q61.8 Other cystic kidney diseases
0.000 0.994 0.006
Q61.4 Renal dysplasia
0.000 0.994 0.006
Q61.1 Polycystic kidney, infantile type
0.000 0.994 0.006
Q61.9 Cystic kidney disease, unspecified
0.000 0.994 0.006
Q35-Q37 Cleft lip and cleft palate
0.000 0.994 0.006
Q30-Q34 Congenital malformations of the respiratory system
0.000 0.994 0.006
D33.3 Cranial nerves
0.000 0.994 0.006
Q85.8 Other phakomatoses, not elsewhere classified
0.000 0.994 0.006
Q85.1 Tuberous sclerosis
0.000 0.994 0.006
I74 Arterial embolism and thrombosis
0.000 0.994 0.006
E07 Other disorders of thyroid
0.006 0.994 0.000
Q62 Congenital obstructive defects of renal pelvis and congenital malformations of ureter
0.000 0.994 0.005
H00.1 Chalazion
0.006 0.994 0.000
Q24.9 Congenital malformation of the heart, unspecified
0.000 0.995 0.005
Q61.5 Medullary cystic kidney
0.000 0.995 0.005
K86.1 Other chronic pancreatitis
0.000 0.995 0.005
Q83 Congenital malformations of breast
0.000 0.995 0.005
O82.1 Delivery by emergency Caesarean section
0.000 0.995 0.005
Q82.9 Congenital malformation of skin, unspecified
0.000 0.995 0.005
Q82.4 Ectodermal dysplasia (anhidrotic)
0.000 0.995 0.005
Q82.3 Incontinentia pigmenti
0.000 0.995 0.005
Q82.2 Mastocytosis
0.000 0.995 0.005
Q82.1 Xeroderma pigmentosum
0.000 0.995 0.005
Q82.0 Hereditary lymphoedema
0.000 0.995 0.005
Q63 Other congenital malformations of kidney
0.000 0.995 0.005
Q64 Other congenital malformations of urinary system
0.000 0.995 0.005
E00-E07 Disorders of thyroid gland
0.005 0.995 0.000
E04.2 Non-toxic multinodular goitre
0.005 0.995 0.000
I71.2 Thoracic aortic aneurysm, without mention of rupture
0.000 0.995 0.005
Q96 Turner's syndrome
0.000 0.995 0.005
Q87 Other specified congenital malformation syndromes affecting multiple systems
0.000 0.995 0.005
Z75.1 Person awaiting admission to adequate facility elsewhere
0.005 0.995 0.000
E07.8 Other specified disorders of thyroid
0.005 0.995 0.000
I74.5 Embolism and thrombosis of iliac artery
0.000 0.995 0.005
Q00-Q07 Congenital malformations of the nervous system
0.000 0.995 0.005
Q38-Q45 Other congenital malformations of the digestive system
0.000 0.995 0.005
Q98 Other sex chromosome abnormalities, male phenotype, not elsewhere classified
0.000 0.995 0.005
Q99 Other chromosome abnormalities, not elsewhere classified
0.000 0.995 0.004
Q97 Other sex chromosome abnormalities, female phenotype, not elsewhere classified
0.000 0.995 0.004
Q95 Balanced rearrangements and structural markers, not elsewhere classified
0.000 0.995 0.004
Q93 Monosomies and deletions from the autosomes, not elsewhere classified
0.000 0.995 0.004
Q92 Other trisomies and partial trisomies of the autosomes, not elsewhere classified
0.000 0.995 0.004
Q91 Edwards' syndrome and Patau's syndrome
0.000 0.995 0.004
Q90 Down's syndrome
0.000 0.995 0.004
O82.0 Delivery by elective Caesarean section
0.000 0.995 0.005
Q80.9 Congenital ichthyosis, unspecified
0.000 0.995 0.004
Q80.8 Other congenital ichthyosis
0.000 0.995 0.004
Q80.4 Harlequin foetus
0.000 0.995 0.004
Q80.3 Congenital bullous ichthyosiform erythroderma
0.000 0.995 0.004
Q80.2 Lamellar ichthyosis
0.000 0.995 0.004
Q80.1 X-linked ichthyosis
0.000 0.995 0.004
Q80.0 Ichthyosis vulgaris
0.000 0.995 0.004
Q81.9 Epidermolysis bullosa, unspecified
0.000 0.995 0.004
Q81.8 Other epidermolysis bullosa
0.000 0.995 0.004
Q81.2 Epidermolysis bullosa dystrophica
0.000 0.995 0.004
Q81.1 Epidermolysis bullosa letalis
0.000 0.995 0.004
Q81.0 Epidermolysis bullosa simplex
0.000 0.995 0.004
Q84.9 Congenital malformation of integument, unspecified
0.000 0.995 0.004
Q84.8 Other specified congenital malformations of integument
0.000 0.995 0.004
Q84.6 Other congenital malformations of nails
0.000 0.995 0.004
Q84.5 Enlarged and hypertrophic nails
0.000 0.995 0.004
Q84.4 Congenital leukonychia
0.000 0.995 0.004
Q84.3 Anonychia
0.000 0.995 0.004
Q84.2 Other congenital malformations of hair
0.000 0.995 0.004
Q84.1 Congenital morphological disturbances of hair, not elsewhere classified
0.000 0.995 0.004
Q84.0 Congenital alopecia
0.000 0.995 0.004
Q86.8 Other congenital malformation syndromes due to known exogenous causes
0.000 0.995 0.004
Q86.2 Dysmorphism due to warfarin
0.000 0.995 0.004
Q86.1 Foetal hydantoin syndrome
0.000 0.995 0.004
Q86.0 Foetal alcohol syndrome (dysmorphic)
0.000 0.995 0.004
Q10-Q18 Congenital malformations of eye, ear, face and neck
0.000 0.995 0.004
I74.8 Embolism and thrombosis of other arteries
0.000 0.995 0.004
Q28.2 Arteriovenous malformation of cerebral vessels
0.000 0.995 0.004
Q82.8 Other specified congenital malformations of skin
0.000 0.996 0.004
Q60 Renal agenesis and other reduction defects of kidney
0.000 0.996 0.004
Q62.5 Duplication of ureter
0.000 0.996 0.004
I74.2 Embolism and thrombosis of arteries of the upper extremities
0.000 0.996 0.004
Q34 Other congenital malformations of respiratory system
0.000 0.996 0.004
Q33 Congenital malformations of lung
0.000 0.996 0.004
Q32 Congenital malformations of trachea and bronchus
0.000 0.996 0.004
Q31 Congenital malformations of larynx
0.000 0.996 0.004
Q30 Congenital malformations of nose
0.000 0.996 0.004
Q37 Cleft palate with cleft lip
0.000 0.996 0.004
Q36 Cleft lip
0.000 0.996 0.004
Q35 Cleft palate
0.000 0.996 0.004
I74.4 Embolism and thrombosis of arteries of extremities, unspecified
0.000 0.996 0.004
I74.1 Embolism and thrombosis of other and unspecified parts of aorta
0.000 0.996 0.004
I74.0 Embolism and thrombosis of abdominal aorta
0.000 0.996 0.004
Q63.0 Accessory kidney
0.000 0.996 0.004
O82 Single delivery by Caesarean section
0.000 0.996 0.004
E07.1 Dyshormogenetic goitre
0.004 0.996 0.000
E07.0 Hypersecretion of calcitonin
0.004 0.996 0.000
Q62.8 Other congenital malformations of ureter
0.000 0.996 0.004
Q62.7 Congenital vesico-uretero-renal reflux
0.000 0.996 0.004
Q62.6 Malposition of ureter
0.000 0.996 0.004
Q62.4 Agenesis of ureter
0.000 0.996 0.004
Q62.3 Other obstructive defects of renal pelvis and ureter
0.000 0.996 0.004
Q62.2 Congenital megaloureter
0.000 0.996 0.004
Q62.1 Atresia and stenosis of ureter
0.000 0.996 0.004
Q62.0 Congenital hydronephrosis
0.000 0.996 0.004
I70.20 Atherosclerosis of arteries of extremities (without gangrene)
0.000 0.996 0.004
E06 Thyroiditis
0.004 0.996 0.000
Q96.9 Turner's syndrome, unspecified
0.000 0.996 0.004
E02 Subclinical iodine-deficiency hypothyroidism
0.004 0.996 0.000
Q83.1 Accessory breast
0.000 0.996 0.004
Q44 Congenital malformations of gallbladder, bile ducts and liver
0.000 0.996 0.004
Q61.0 Congenital single renal cyst
0.000 0.996 0.004
Q83.9 Congenital malformation of breast, unspecified
0.000 0.996 0.004
Q83.3 Accessory nipple
0.000 0.996 0.004
Q83.2 Absent nipple
0.000 0.996 0.004
Q83.0 Congenital absence of breast with absent nipple
0.000 0.996 0.004
Q63.9 Congenital malformation of kidney, unspecified
0.000 0.996 0.004
Q63.8 Other specified congenital malformations of kidney
0.000 0.996 0.004
Q63.3 Hyperplastic and giant kidney
0.000 0.996 0.004
Q63.2 Ectopic kidney
0.000 0.996 0.004
I71 Aortic aneurysm and dissection
0.000 0.996 0.004
Q50-Q56 Congenital malformations of genital organs
0.000 0.996 0.004
Q64.9 Congenital malformation of urinary system, unspecified
0.000 0.996 0.004
Q64.8 Other specified congenital malformations of urinary system
0.000 0.996 0.004
Q64.7 Other congenital malformations of bladder and urethra
0.000 0.996 0.004
Q64.6 Congenital diverticulum of bladder
0.000 0.996 0.004
Q64.5 Congenital absence of bladder and urethra
0.000 0.996 0.004
Q64.4 Malformation of urachus
0.000 0.996 0.004
Q64.2 Congenital posterior urethral valves
0.000 0.996 0.004
Q64.1 Exstrophy of urinary bladder
0.000 0.996 0.004
Q64.0 Epispadias
0.000 0.996 0.004
E01 Iodine-deficiency-related thyroid disorders and allied conditions
0.004 0.996 0.000
E00 Congenital iodine-deficiency syndrome
0.004 0.996 0.000
Q96.8 Other variants of Turner's syndrome
0.000 0.996 0.004
Q96.4 Mosaicism, 45,X/other cell line(s) with abnormal sex chromosome
0.000 0.996 0.004
Q96.3 Mosaicism, 45,X/46,XX or XY
0.000 0.996 0.004
Q96.2 Karyotype 46,X with abnormal sex chromosome, except iso (Xq)
0.000 0.996 0.004
Q96.1 Karyotype 46,X iso (Xq)
0.000 0.996 0.004
Q96.0 Karyotype 45,X
0.000 0.996 0.004
Q87.5 Other congenital malformation syndromes with other skeletal changes
0.000 0.996 0.004
Q87.3 Congenital malformation syndromes involving early overgrowth
0.000 0.996 0.004
Q87.2 Congenital malformation syndromes predominantly involving limbs
0.000 0.996 0.004
Q87.1 Congenital malformation syndromes predominantly associated with short stature
0.000 0.996 0.004
Q87.0 Congenital malformation syndromes predominantly affecting facial appearance
0.000 0.996 0.004
I70.2 Atherosclerosis of arteries of the extremities
0.000 0.996 0.004
Q98.4 Klinefelter's syndrome, unspecified
0.000 0.996 0.004
I71.0 Dissection of aorta [any part]
0.000 0.996 0.004
Q06 Other congenital malformations of spinal cord
0.000 0.996 0.004
Q04 Other congenital malformations of brain
0.000 0.996 0.004
Q03 Congenital hydrocephalus
0.000 0.996 0.004
Q01 Encephalocele
0.000 0.996 0.004
Q00 Anencephaly and similar malformations
0.000 0.996 0.004
Q02 Microcephaly
0.000 0.996 0.004
Q42 Congenital absence, atresia and stenosis of large intestine
0.000 0.996 0.004
Q41 Congenital absence, atresia and stenosis of small intestine
0.000 0.996 0.004
Q40 Other congenital malformations of upper alimentary tract
0.000 0.996 0.004
E06.9 Thyroiditis, unspecified
0.004 0.996 0.000
Q98.9 Sex chromosome abnormality, male phenotype, unspecified
0.000 0.996 0.003
Q98.8 Other specified sex chromosome abnormalities, male phenotype
0.000 0.996 0.003
Q98.7 Male with sex chromosome mosaicism
0.000 0.996 0.003
Q98.6 Male with structurally abnormal sex chromosome
0.000 0.996 0.003
Q98.5 Karyotype 47,XYY
0.000 0.996 0.003
Q98.3 Other male with 46,XX karyotype
0.000 0.996 0.003
Q98.2 Klinefelter's syndrome, male with 46,XX karyotype
0.000 0.996 0.003
Q98.1 Klinefelter's syndrome, male with more than two X chromosomes
0.000 0.996 0.003
Q98.0 Klinefelter's syndrome karyotype 47,XXY
0.000 0.996 0.003
Q43 Other congenital malformations of intestine
0.000 0.996 0.004
Q90.9 Down's syndrome, unspecified
0.000 0.996 0.003
Q90.2 Trisomy 21, translocation
0.000 0.996 0.003
Q90.1 Trisomy 21, mosaicism (mitotic nondisjunction)
0.000 0.996 0.003
Q90.0 Trisomy 21, meiotic nondisjunction
0.000 0.996 0.003
Q91.7 Patau's syndrome, unspecified
0.000 0.996 0.003
Q91.6 Trisomy 13, translocation
0.000 0.996 0.003
Q91.5 Trisomy 13, mosaicism (mitotic nondisjunction)
0.000 0.996 0.003
Q91.4 Trisomy 13, meiotic nondisjunction
0.000 0.996 0.003
Q91.3 Edwards' syndrome, unspecified
0.000 0.996 0.003
Q91.2 Trisomy 18, translocation
0.000 0.996 0.003
Q91.1 Trisomy 18, mosaicism (mitotic nondisjunction)
0.000 0.996 0.003
Q91.0 Trisomy 18, meiotic nondisjunction
0.000 0.996 0.003
Q92.9 Trisomy and partial trisomy of autosomes, unspecified
0.000 0.996 0.003
Q92.8 Other specified trisomies and partial trisomies of autosomes
0.000 0.996 0.003
Q92.7 Triploidy and polyploidy
0.000 0.996 0.003
Q92.6 Extra marker chromosomes
0.000 0.996 0.003
Q92.5 Duplications with other complex rearrangements
0.000 0.996 0.003
Q92.4 Duplications seen only at prometaphase
0.000 0.996 0.003
Q92.3 Minor partial trisomy
0.000 0.996 0.003
Q92.2 Major partial trisomy
0.000 0.996 0.003
Q92.1 Whole chromosome trisomy, mosaicism (mitotic nondisjunction)
0.000 0.996 0.003
Q92.0 Whole chromosome trisomy, meiotic nondisjunction
0.000 0.996 0.003
Q93.9 Deletion from autosomes, unspecified
0.000 0.996 0.003
Q93.8 Other deletions from the autosomes
0.000 0.996 0.003
Q93.7 Deletions with other complex rearrangements
0.000 0.996 0.003
Q93.6 Deletions seen only at prometaphase
0.000 0.996 0.003
Q93.5 Other deletions of part of a chromosome
0.000 0.996 0.003
Q93.4 Deletion of short arm of chromosome 5
0.000 0.996 0.003
Q93.3 Deletion of short arm of chromosome 4
0.000 0.996 0.003
Q93.2 Chromosome replaced with ring or dicentric
0.000 0.996 0.003
Q93.1 Whole chromosome monosomy, mosaicism (mitotic nondisjunction)
0.000 0.996 0.003
Q93.0 Whole chromosome monosomy, meiotic nondisjunction
0.000 0.996 0.003
Q95.9 Balanced rearrangement and structural marker, unspecified
0.000 0.996 0.003
Q95.8 Other balanced rearrangements and structural markers
0.000 0.996 0.003
Q95.5 Individuals with autosomal fragile site
0.000 0.996 0.003
Q95.4 Individuals with marker heterochromatin
0.000 0.996 0.003
Q95.3 Balanced sex/autosomal rearrangement in abnormal individual
0.000 0.996 0.003
Q95.2 Balanced autosomal rearrangement in abnormal individual
0.000 0.996 0.003
Q95.1 Chromosome inversion in normal individual
0.000 0.996 0.003
Q95.0 Balanced translocation and insertion in normal individual
0.000 0.996 0.003
Q97.9 Sex chromosome abnormality, female phenotype, unspecified
0.000 0.996 0.003
Q97.8 Other specified sex chromosome abnormalities, female phenotype
0.000 0.996 0.003
Q97.3 Female with 46,XY karyotype
0.000 0.996 0.003
Q97.2 Mosaicism, lines with various numbers of X chromosomes
0.000 0.996 0.003
Q97.1 Female with more than three X chromosomes
0.000 0.996 0.003
Q97.0 Karyotype 47,XXX
0.000 0.996 0.003
Q99.9 Chromosomal abnormality, unspecified
0.000 0.996 0.003
Q99.8 Other specified chromosome abnormalities
0.000 0.996 0.003
Q99.2 Fragile X chromosome
0.000 0.996 0.003
Q99.1 46,XX true hermaphrodite
0.000 0.996 0.003
Q99.0 Chimera 46,XX/46,XY
0.000 0.996 0.003
O82.9 Delivery by Caesarean section, unspecified
0.000 0.996 0.004
Q45 Other congenital malformations of digestive system
0.000 0.996 0.003
Q16 Congenital malformations of ear causing impairment of hearing
0.000 0.996 0.003
Q15 Other congenital malformations of eye
0.000 0.996 0.003
Q14 Congenital malformations of posterior segment of eye
0.000 0.996 0.003
Q13 Congenital malformations of anterior segment of eye
0.000 0.996 0.003
Q11 Anophthalmos, microphthalmos and macrophthalmos
0.000 0.996 0.003
Q10 Congenital malformations of eyelid, lachrymal apparatus and orbit
0.000 0.996 0.003
Q64.3 Other atresia and stenosis of urethra and bladder neck
0.000 0.996 0.003
Q44.6 Cystic disease of liver
0.000 0.996 0.003
Q17 Other congenital malformations of ear
0.000 0.996 0.003
Q60.6 Potter's syndrome
0.000 0.997 0.003
Q60.5 Renal hypoplasia, unspecified
0.000 0.997 0.003
Q60.4 Renal hypoplasia, bilateral
0.000 0.997 0.003
Q60.3 Renal hypoplasia, unilateral
0.000 0.997 0.003
Q60.1 Renal agenesis, bilateral
0.000 0.997 0.003
Q07 Other congenital malformations of nervous system
0.000 0.997 0.003
E04.1 Non-toxic single thyroid nodule
0.003 0.997 0.000
Q30.9 Congenital malformation of nose, unspecified
0.000 0.997 0.003
Q30.8 Other congenital malformations of nose
0.000 0.997 0.003
Q30.3 Congenital perforated nasal septum
0.000 0.997 0.003
Q30.2 Fissured, notched and cleft nose
0.000 0.997 0.003
Q30.1 Agenesis and underdevelopment of nose
0.000 0.997 0.003
Q30.0 Choanal atresia
0.000 0.997 0.003
Q31.9 Congenital malformation of larynx, unspecified
0.000 0.997 0.003
Q31.8 Other congenital malformations of larynx
0.000 0.997 0.003
Q31.5 Congenital laryngomalacia
0.000 0.997 0.003
Q31.4 Congenital laryngeal stridor
0.000 0.997 0.003
Q31.3 Laryngocele
0.000 0.997 0.003
Q31.2 Laryngeal hypoplasia
0.000 0.997 0.003
Q31.1 Congenital subglottic stenosis
0.000 0.997 0.003
Q31.0 Web of larynx
0.000 0.997 0.003
Q32.4 Other congenital malformations of bronchus
0.000 0.997 0.003
Q32.3 Congenital stenosis of bronchus
0.000 0.997 0.003
Q32.2 Congenital bronchomalacia
0.000 0.997 0.003
Q32.1 Other congenital malformations of trachea
0.000 0.997 0.003
Q32.0 Congenital tracheomalacia
0.000 0.997 0.003
Q33.9 Congenital malformation of lung, unspecified
0.000 0.997 0.003
Q33.8 Other congenital malformations of lung
0.000 0.997 0.003
Q33.6 Hypoplasia and dysplasia of lung
0.000 0.997 0.003
Q33.5 Ectopic tissue in lung
0.000 0.997 0.003
Q33.4 Congenital bronchiectasis
0.000 0.997 0.003
Q33.3 Agenesis of lung
0.000 0.997 0.003
Q33.2 Sequestration of lung
0.000 0.997 0.003
Q33.1 Accessory lobe of lung
0.000 0.997 0.003
Q33.0 Congenital cystic lung
0.000 0.997 0.003
Q34.9 Congenital malformation of respiratory system, unspecified
0.000 0.997 0.003
Q34.8 Other specified congenital malformations of respiratory system
0.000 0.997 0.003
Q34.1 Congenital cyst of mediastinum
0.000 0.997 0.003
Q34.0 Anomaly of pleura
0.000 0.997 0.003
Q35.9 Cleft palate, unspecified
0.000 0.997 0.003
Q35.8 (Cleft palate, unspecified, bilateral)
0.000 0.997 0.003
Q35.7 Cleft uvula
0.000 0.997 0.003
Q35.6 Cleft palate, medial
0.000 0.997 0.003
Q35.5 Cleft hard palate with cleft soft palate
0.000 0.997 0.003
Q35.4 (Cleft hard palate with cleft soft palate, bilateral)
0.000 0.997 0.003
Q35.3 Cleft soft palate
0.000 0.997 0.003
Q35.2 (Cleft soft palate, bilateral)
0.000 0.997 0.003
Q35.1 Cleft hard palate
0.000 0.997 0.003
Q35.0 (Cleft hard palate, bilateral)
0.000 0.997 0.003
Q36.9 Cleft lip, unilateral
0.000 0.997 0.003
Q36.1 Cleft lip, medial
0.000 0.997 0.003
Q36.0 Cleft lip, bilateral
0.000 0.997 0.003
Q37.9 Unspecified cleft palate with unilateral cleft lip
0.000 0.997 0.003
Q37.8 Unspecified cleft palate with bilateral cleft lip
0.000 0.997 0.003
Q37.5 Cleft hard and soft palate with unilateral cleft lip
0.000 0.997 0.003
Q37.4 Cleft hard and soft palate with bilateral cleft lip
0.000 0.997 0.003
Q37.3 Cleft soft palate with unilateral cleft lip
0.000 0.997 0.003
Q37.2 Cleft soft palate with bilateral cleft lip
0.000 0.997 0.003
Q37.1 Cleft hard palate with unilateral cleft lip
0.000 0.997 0.003
Q37.0 Cleft hard palate with bilateral cleft lip
0.000 0.997 0.003
Q87.4 Marfan's syndrome
0.000 0.997 0.003
O82.8 Other single delivery by Caesarean section
0.000 0.997 0.003
O82.2 Delivery by Caesarean hysterectomy
0.000 0.997 0.003
Q12 Congenital lens malformations
0.000 0.997 0.003
Z22 Carrier of infectious disease
0.000 0.997 0.003
Q65-Q79 Congenital malformations and deformations of the musculoskeletal system
0.000 0.997 0.003
Q43.9 Congenital malformation of intestine, unspecified
0.000 0.997 0.003
Q87.8 Other specified congenital malformation syndromes, not elsewhere classified
0.000 0.997 0.003
Q39 Congenital malformations of oesophagus
0.000 0.997 0.003
E06.5 Other chronic thyroiditis
0.003 0.997 0.000
E06.4 Drug-induced thyroiditis
0.003 0.997 0.000
E06.2 Chronic thyroiditis with transient thyrotoxicosis
0.003 0.997 0.000
E06.1 Subacute thyroiditis
0.003 0.997 0.000
E06.0 Acute thyroiditis
0.003 0.997 0.000
M75.1 Rotator cuff syndrome
0.003 0.997 0.000
I70 Atherosclerosis
0.000 0.997 0.003
I74.9 Embolism and thrombosis of unspecified artery
0.000 0.997 0.003
I70.21 Atherosclerosis of arteries of extremities (with gangrene)
0.000 0.997 0.003
Q60.2 Renal agenesis, unspecified
0.000 0.997 0.003
I70-I79 Diseases of arteries, arterioles and capillaries
0.000 0.997 0.003
Q43.3 Congenital malformations of intestinal fixation
0.000 0.997 0.003
Q44.7 Other congenital malformations of liver
0.000 0.997 0.003
Q44.5 Other congenital malformations of bile ducts
0.000 0.997 0.003
Q44.4 Choledochal cyst
0.000 0.997 0.003
Q44.3 Congenital stenosis and stricture of bile ducts
0.000 0.997 0.003
Q44.2 Atresia of bile ducts
0.000 0.997 0.003
Q44.1 Other congenital malformations of gallbladder
0.000 0.997 0.003
Q44.0 Agenesis, aplasia and hypoplasia of gallbladder
0.000 0.997 0.003
S81.0 Open wound of knee
0.003 0.997 0.000
M75 Shoulder lesions
0.003 0.997 0.000
Q05 Spina bifida
0.000 0.997 0.003
E06.3 Autoimmune thyroiditis
0.003 0.997 0.000
Q83.8 Other congenital malformations of breast
0.001 0.997 0.003
I71.8 Aortic aneurysm of unspecified site, ruptured
0.000 0.997 0.003
I71.5 Thoracoabdominal aortic aneurysm, ruptured
0.000 0.997 0.003
I71.1 Thoracic aortic aneurysm, ruptured
0.000 0.997 0.003
Q56 Indeterminate sex and pseudohermaphroditism
0.000 0.997 0.003
E00.9 Congenital iodine-deficiency syndrome, unspecified
0.003 0.997 0.000
E00.2 Congenital iodine-deficiency syndrome, mixed type
0.003 0.997 0.000
E00.1 Congenital iodine-deficiency syndrome, myxoedematous type
0.003 0.997 0.000
E00.0 Congenital iodine-deficiency syndrome, neurological type
0.003 0.997 0.000
E01.8 Other iodine-deficiency-related thyroid disorders and allied conditions
0.003 0.997 0.000
E01.2 Iodine-deficiency-related (endemic) goitre, unspecified
0.003 0.997 0.000
E01.1 Iodine-deficiency-related multinodular (endemic) goitre
0.003 0.997 0.000
E01.0 Iodine-deficiency-related diffuse (endemic) goitre
0.003 0.997 0.000
C32.0 Glottis
0.003 0.997 0.000
Q52 Other congenital malformations of female genitalia
0.000 0.997 0.003
M75.4 Impingement syndrome of shoulder
0.003 0.997 0.000
Q63.1 Lobulated, fused and horseshoe kidney
0.000 0.997 0.003
S22.00 Fracture of thoracic vertebra (closed)
0.003 0.997 0.000
Q55 Other congenital malformations of male genital organs
0.000 0.997 0.003
I71.9 Aortic aneurysm of unspecified site, without mention of rupture
0.000 0.997 0.003
Q00.2 Iniencephaly
0.000 0.997 0.003
Q00.1 Craniorachischisis
0.000 0.997 0.003
Q00.0 Anencephaly
0.000 0.997 0.003
Q01.9 Encephalocele, unspecified
0.000 0.997 0.003
Q01.8 Encephalocele of other sites
0.000 0.997 0.003
Q01.2 Occipital encephalocele
0.000 0.997 0.003
Q01.1 Nasofrontal encephalocele
0.000 0.997 0.003
Q01.0 Frontal encephalocele
0.000 0.997 0.003
Q03.9 Congenital hydrocephalus, unspecified
0.000 0.997 0.003
Q03.8 Other congenital hydrocephalus
0.000 0.997 0.003
Q03.1 Atresia of foramina of Magendie and Luschka
0.000 0.997 0.003
Q03.0 Malformations of aqueduct of Sylvius
0.000 0.997 0.003
Q04.9 Congenital malformation of brain, unspecified
0.000 0.997 0.003
Q04.8 Other specified congenital malformations of brain
0.000 0.997 0.003
Q04.6 Congenital cerebral cysts
0.000 0.997 0.003
Q04.5 Megalencephaly
0.000 0.997 0.003
Q04.4 Septo-optic dysplasia
0.000 0.997 0.003
Q04.3 Other reduction deformities of brain
0.000 0.997 0.003
Q04.2 Holoprosencephaly
0.000 0.997 0.003
Q04.1 Arhinencephaly
0.000 0.997 0.003
Q04.0 Congenital malformations of corpus callosum
0.000 0.997 0.003
Q06.9 Congenital malformation of spinal cord, unspecified
0.000 0.997 0.003
Q06.8 Other specified congenital malformations of spinal cord
0.000 0.997 0.003
Q06.4 Hydromyelia
0.000 0.997 0.003
Q06.3 Other congenital cauda equina malformations
0.000 0.997 0.003
Q06.2 Diastematomyelia
0.000 0.997 0.003
Q06.1 Hypoplasia and dysplasia of spinal cord
0.000 0.997 0.003
Q06.0 Amyelia
0.000 0.997 0.003
Q40.9 Congenital malformation of upper alimentary tract, unspecified
0.000 0.997 0.003
Q40.8 Other specified congenital malformations of upper alimentary tract
0.000 0.997 0.003
Q40.3 Congenital malformation of stomach, unspecified
0.000 0.997 0.003
Q40.2 Other specified congenital malformations of stomach
0.000 0.997 0.003
Q40.1 Congenital hiatus hernia
0.000 0.997 0.003
Q40.0 Congenital hypertrophic pyloric stenosis
0.000 0.997 0.003
Q41.9 Congenital absence, atresia and stenosis of small intestine, part unspecified
0.000 0.997 0.003
Q41.8 Congenital absence, atresia and stenosis of other specified parts of small intestine
0.000 0.997 0.003
Q41.2 Congenital absence, atresia and stenosis of ileum
0.000 0.997 0.003
Q41.1 Congenital absence, atresia and stenosis of jejunum
0.000 0.997 0.003
Q41.0 Congenital absence, atresia and stenosis of duodenum
0.000 0.997 0.003
Q42.9 Congenital absence, atresia and stenosis of large intestine, part unspecified
0.000 0.997 0.003

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.

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