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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

rs2447961
log Bayes Factor = <0.0001
Chromosome 8   position 102,481,308  (GRCh37) Explore rs2447961 on Ensembl!
Variant rs2447961 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
  
J44.9 Chronic obstructive pulmonary disease, unspecified
0.000 0.926 0.074
J44 Other chronic obstructive pulmonary disease
0.000 0.948 0.052
J44.0 Chronic obstructive pulmonary disease with acute lower respiratory infection
0.000 0.948 0.052
J44.8 Other specified chronic obstructive pulmonary disease
0.000 0.965 0.035
M47.82 Other spondylosis (Cervical region)
0.000 0.969 0.031
J44.1 Chronic obstructive pulmonary disease with acute exacerbation, unspecified
0.000 0.978 0.022
Q05.9 Spina bifida, unspecified
0.000 0.990 0.010
Q20-Q28 Congenital malformations of the circulatory system
0.000 0.990 0.010
Q23 Congenital malformations of aortic and mitral valves
0.000 0.991 0.009
Q05 Spina bifida
0.000 0.991 0.009
Q23.1 Congenital insufficiency of aortic valve
0.000 0.991 0.008
Q25 Congenital malformations of great arteries
0.000 0.992 0.008
M47.96 Spondylosis, unspecified (Lumbar region)
0.008 0.992 0.000
Q28 Other congenital malformations of circulatory system
0.000 0.992 0.008
M47.90 Spondylosis, unspecified (Multiple sites in spine)
0.008 0.992 0.000
Q21 Congenital malformations of cardiac septa
0.000 0.992 0.008
Q23.0 Congenital stenosis of aortic valve
0.000 0.992 0.008
Q26 Congenital malformations of great veins
0.000 0.992 0.008
Q25.3 Stenosis of aorta
0.000 0.992 0.008
S82.60 Fracture of lateral malleolus (closed)
0.008 0.992 0.000
Q00-Q07 Congenital malformations of the nervous system
0.000 0.992 0.008
S80 Superficial injury of lower leg
0.008 0.992 0.000
Q22 Congenital malformations of pulmonary and tricuspid valves
0.000 0.993 0.007
M47.9 Spondylosis, unspecified
0.007 0.993 0.000
Q23.3 Congenital mitral insufficiency
0.000 0.993 0.007
Chapter XVII Congenital malformations, deformations and chromosomal abnormalities
0.000 0.993 0.007
Q05.4 Unspecified spina bifida with hydrocephalus
0.000 0.993 0.007
S80.1 Contusion of other and unspecified parts of lower leg
0.007 0.993 0.000
Q28.2 Arteriovenous malformation of cerebral vessels
0.000 0.993 0.007
S80.0 Contusion of knee
0.007 0.993 0.000
Q20 Congenital malformations of cardiac chambers and connexions
0.000 0.993 0.007
S80.9 Superficial injury of lower leg, unspecified
0.007 0.993 0.000
S82.6 Fracture of lateral malleolus
0.007 0.993 0.000
Q05.7 Lumbar spina bifida without hydrocephalus
0.000 0.993 0.007
D32.0 Cerebral meninges
0.000 0.993 0.007
D32.9 Meninges, unspecified
0.000 0.993 0.007
Q23.9 Congenital malformation of aortic and mitral valves, unspecified
0.000 0.993 0.007
Q23.8 Other congenital malformations of aortic and mitral valves
0.000 0.993 0.007
Q23.4 Hypoplastic left heart syndrome
0.000 0.993 0.007
Q23.2 Congenital mitral stenosis
0.000 0.993 0.007
Q21.0 Ventricular septal defect
0.000 0.993 0.007
Q25.1 Coarctation of aorta
0.000 0.993 0.007
Q05.8 Sacral spina bifida without hydrocephalus
0.000 0.993 0.007
Q05.6 Thoracic spina bifida without hydrocephalus
0.000 0.993 0.007
Q05.5 Cervical spina bifida without hydrocephalus
0.000 0.993 0.007
Q05.3 Sacral spina bifida with hydrocephalus
0.000 0.993 0.007
Q05.2 Lumbar spina bifida with hydrocephalus
0.000 0.993 0.007
Q05.1 Thoracic spina bifida with hydrocephalus
0.000 0.993 0.007
Q05.0 Cervical spina bifida with hydrocephalus
0.000 0.993 0.007
Q27 Other congenital malformations of peripheral vascular system
0.000 0.993 0.007
Q24 Other congenital malformations of heart
0.000 0.993 0.007
Q65-Q79 Congenital malformations and deformations of the musculoskeletal system
0.000 0.993 0.007
Q80-Q89 Other congenital malformations
0.000 0.993 0.007
J40-J47 Chronic lower respiratory diseases
0.000 0.993 0.007
Q25.6 Stenosis of pulmonary artery
0.000 0.993 0.006
S80.7 Multiple superficial injuries of lower leg
0.007 0.993 0.000
Q26.4 Anomalous pulmonary venous connexion, unspecified
0.000 0.993 0.006
S82 Fracture of lower leg, including ankle
0.006 0.994 0.000
Q25.0 Patent ductus arteriosus
0.000 0.994 0.006
Q25.9 Congenital malformation of great arteries, unspecified
0.000 0.994 0.006
Q25.8 Other congenital malformations of great arteries
0.000 0.994 0.006
Q25.5 Atresia of pulmonary artery
0.000 0.994 0.006
Q25.2 Atresia of aorta
0.000 0.994 0.006
Q28.3 Other malformations of cerebral vessels
0.000 0.994 0.006
D32 Benign neoplasm of meninges
0.000 0.994 0.006
Q21.3 Tetralogy of Fallot
0.000 0.994 0.006
Q21.1 Atrial septal defect
0.000 0.994 0.006
Q28.9 Congenital malformation of circulatory system, unspecified
0.000 0.994 0.006
Q28.8 Other specified congenital malformations of circulatory system
0.000 0.994 0.006
Q28.1 Other malformations of precerebral vessels
0.000 0.994 0.006
Q06 Other congenital malformations of spinal cord
0.000 0.994 0.006
Q21.4 Aortopulmonary septal defect
0.000 0.994 0.006
Q21.2 Atrioventricular septal defect
0.000 0.994 0.006
Q25.4 Other congenital malformations of aorta
0.000 0.994 0.006
Q87 Other specified congenital malformation syndromes affecting multiple systems
0.000 0.994 0.006
M47.95 Spondylosis, unspecified (Thoracolumbar region)
0.006 0.994 0.000
S82.0 Fracture of patella
0.006 0.994 0.000
Q21.9 Congenital malformation of cardiac septum, unspecified
0.000 0.994 0.006
Q24.8 Other specified congenital malformations of heart
0.000 0.994 0.006
Q26.9 Congenital malformation of great vein, unspecified
0.000 0.994 0.006
Q26.8 Other congenital malformations of great veins
0.000 0.994 0.006
Q26.6 Portal vein-hepatic artery fistula
0.000 0.994 0.006
Q26.5 Anomalous portal venous connexion
0.000 0.994 0.006
Q26.3 Partial anomalous pulmonary venous connexion
0.000 0.994 0.006
Q26.2 Total anomalous pulmonary venous connexion
0.000 0.994 0.006
Q26.1 Persistent left superior vena cava
0.000 0.994 0.006
Q26.0 Congenital stenosis of vena cava
0.000 0.994 0.006
Q28.0 Arteriovenous malformation of precerebral vessels
0.000 0.994 0.006
Q01 Encephalocele
0.000 0.994 0.006
Q00 Anencephaly and similar malformations
0.000 0.994 0.006
Q02 Microcephaly
0.000 0.994 0.006
S82.2 Fracture of shaft of tibia
0.006 0.994 0.000
Q22.5 Ebstein's anomaly
0.000 0.994 0.006
Q25.7 Other congenital malformations of pulmonary artery
0.000 0.994 0.006
Q21.8 Other congenital malformations of cardiac septa
0.000 0.994 0.006
Q03 Congenital hydrocephalus
0.000 0.994 0.006
M47.92 Spondylosis, unspecified (Cervical region)
0.006 0.994 0.000
Q27.9 Congenital malformation of peripheral vascular system, unspecified
0.000 0.994 0.006
S82.20 Fracture of shaft of tibia (closed)
0.006 0.994 0.000
Q04 Other congenital malformations of brain
0.000 0.994 0.005
Q90-Q99 Chromosomal abnormalities, not elsewhere classified
0.000 0.994 0.006
Q83 Congenital malformations of breast
0.000 0.994 0.006
J41 Simple and mucopurulent chronic bronchitis
0.000 0.994 0.005
M47.98 Spondylosis, unspecified (Sacral and sacrococcygeal region)
0.005 0.994 0.000
M47.93 Spondylosis, unspecified (Cervicothoracic region)
0.005 0.994 0.000
Q74 Other congenital malformations of limb(s)
0.000 0.994 0.005
Q22.9 Congenital malformation of tricuspid valve, unspecified
0.000 0.994 0.005
Q22.8 Other congenital malformations of tricuspid valve
0.000 0.994 0.005
Q22.6 Hypoplastic right heart syndrome
0.000 0.994 0.005
Q22.4 Congenital tricuspid stenosis
0.000 0.994 0.005
Q22.3 Other congenital malformations of pulmonary valve
0.000 0.994 0.005
Q22.2 Congenital pulmonary valve insufficiency
0.000 0.994 0.005
Q22.1 Congenital pulmonary valve stenosis
0.000 0.994 0.005
Q22.0 Pulmonary valve atresia
0.000 0.994 0.005
J43 Emphysema
0.000 0.994 0.006
Q78 Other osteochondrodysplasias
0.000 0.994 0.005
Q79 Congenital malformations of musculoskeletal system, not elsewhere classified
0.000 0.994 0.005
M47.91 Spondylosis, unspecified (Occipito-atlanto-axial region)
0.005 0.994 0.000
D32.1 Spinal meninges
0.000 0.994 0.005
Q66 Congenital deformities of feet
0.000 0.994 0.005
S82.61 Fracture of lateral malleolus (open)
0.005 0.995 0.000
S80-S89 Injuries to the knee and lower leg
0.005 0.995 0.000
S82.1 Fracture of upper end of tibia
0.005 0.995 0.000
S82.00 Fracture of patella (closed)
0.005 0.995 0.000
Q70 Syndactyly
0.000 0.995 0.005
Q20.9 Congenital malformation of cardiac chambers and connexions, unspecified
0.000 0.995 0.005
Q20.8 Other congenital malformations of cardiac chambers and connexions
0.000 0.995 0.005
Q20.6 Isomerism of atrial appendages
0.000 0.995 0.005
Q20.5 Discordant atrioventricular connexion
0.000 0.995 0.005
Q20.4 Double inlet ventricle
0.000 0.995 0.005
Q20.3 Discordant ventriculoarterial connexion
0.000 0.995 0.005
Q20.2 Double outlet left ventricle
0.000 0.995 0.005
Q20.1 Double outlet right ventricle
0.000 0.995 0.005
Q20.0 Common arterial trunk
0.000 0.995 0.005
Q87.4 Marfan's syndrome
0.000 0.995 0.005
Q80 Congenital ichthyosis
0.000 0.995 0.005
Q10-Q18 Congenital malformations of eye, ear, face and neck
0.000 0.995 0.005
Q27.1 Congenital renal artery stenosis
0.000 0.995 0.005
J46 Status asthmaticus
0.000 0.995 0.005
Q68 Other congenital musculoskeletal deformities
0.000 0.995 0.005
Q24.0 Dextrocardia
0.000 0.995 0.005
Q30-Q34 Congenital malformations of the respiratory system
0.000 0.995 0.005
Q65 Congenital deformities of hip
0.000 0.995 0.005
Q82 Other congenital malformations of skin
0.000 0.995 0.005
Q35-Q37 Cleft lip and cleft palate
0.000 0.995 0.005
M47.97 Spondylosis, unspecified (Lumbosacral region)
0.005 0.995 0.000
Q24.3 Pulmonary infundibular stenosis
0.000 0.995 0.005
Q24.2 Cor triatriatum
0.000 0.995 0.005
Q24.1 Levocardia
0.000 0.995 0.005
Q27.4 Congenital phlebectasia
0.000 0.995 0.005
Q27.2 Other congenital malformations of renal artery
0.000 0.995 0.005
Q27.0 Congenital absence and hypoplasia of umbilical artery
0.000 0.995 0.005
Q83.8 Other congenital malformations of breast
0.000 0.995 0.005
Q76 Congenital malformations of spine and bony thorax
0.000 0.995 0.005
S82.9 Fracture of lower leg, part unspecified
0.005 0.995 0.000
Q73 Reduction defects of unspecified limb
0.000 0.995 0.005
Q72 Reduction defects of lower limb
0.000 0.995 0.005
Q71 Reduction defects of upper limb
0.000 0.995 0.005
Q69 Polydactyly
0.000 0.995 0.005
Q86 Congenital malformation syndromes due to known exogenous causes, not elsewhere classified
0.000 0.995 0.005
Q84 Other congenital malformations of integument
0.000 0.995 0.005
Q81 Epidermolysis bullosa
0.000 0.995 0.005
D05.1 Intraductal carcinoma in situ
0.000 0.995 0.005
Q85 Phakomatoses, not elsewhere classified
0.000 0.995 0.005
J43.2 Centrilobular emphysema
0.000 0.995 0.005
Q24.4 Congenital subaortic stenosis
0.000 0.995 0.005
Q24.5 Malformation of coronary vessels
0.000 0.995 0.005
Q66.8 Other congenital deformities of feet
0.000 0.995 0.005
J42 Unspecified chronic bronchitis
0.000 0.995 0.005
Q77 Osteochondrodysplasia with defects of growth of tubular bones and spine
0.000 0.995 0.005
Q75 Other congenital malformations of skull and face bones
0.000 0.995 0.005
Q87.2 Congenital malformation syndromes predominantly involving limbs
0.000 0.995 0.005
S82.7 Multiple fractures of lower leg
0.005 0.995 0.000
Q27.8 Other specified congenital malformations of peripheral vascular system
0.000 0.995 0.005
S82.5 Fracture of medial malleolus
0.005 0.995 0.000
Q06.8 Other specified congenital malformations of spinal cord
0.000 0.995 0.005
J41.0 Simple chronic bronchitis
0.000 0.995 0.005
Q24.6 Congenital heart block
0.000 0.995 0.005
Q78.0 Osteogenesis imperfecta
0.000 0.995 0.005
Q89 Other congenital malformations, not elsewhere classified
0.000 0.995 0.005
Q79.8 Other congenital malformations of musculoskeletal system
0.000 0.995 0.005
Q07 Other congenital malformations of nervous system
0.000 0.995 0.005
M47.94 Spondylosis, unspecified (Thoracic region)
0.005 0.995 0.000
Q87.1 Congenital malformation syndromes predominantly associated with short stature
0.000 0.995 0.005
S82.01 Fracture of patella (open)
0.005 0.995 0.000
Q06.2 Diastematomyelia
0.000 0.995 0.004
Q06.9 Congenital malformation of spinal cord, unspecified
0.000 0.995 0.004
Q06.4 Hydromyelia
0.000 0.995 0.004
Q06.3 Other congenital cauda equina malformations
0.000 0.995 0.004
Q06.1 Hypoplasia and dysplasia of spinal cord
0.000 0.995 0.004
Q06.0 Amyelia
0.000 0.995 0.004
Q67 Congenital musculoskeletal deformities of head, face, spine and chest
0.000 0.995 0.004
S82.4 Fracture of fibula alone
0.005 0.995 0.000
Q90 Down's syndrome
0.000 0.995 0.004
M47.99 Spondylosis, unspecified (Site unspecified)
0.005 0.995 0.000
Q74.1 Congenital malformation of knee
0.000 0.995 0.004
S80.8 Other superficial injuries of lower leg
0.004 0.995 0.000
S89 Other and unspecified injuries of lower leg
0.005 0.995 0.000
Q87.5 Other congenital malformation syndromes with other skeletal changes
0.000 0.995 0.004
Q87.3 Congenital malformation syndromes involving early overgrowth
0.000 0.995 0.004
Q60-Q64 Congenital malformations of the urinary system
0.000 0.995 0.005
S82.11 Fracture of upper end of tibia (open)
0.004 0.995 0.000
Q04.8 Other specified congenital malformations of brain
0.000 0.996 0.004
Q00.2 Iniencephaly
0.000 0.996 0.004
Q00.1 Craniorachischisis
0.000 0.996 0.004
Q00.0 Anencephaly
0.000 0.996 0.004
Q01.9 Encephalocele, unspecified
0.000 0.996 0.004
Q01.8 Encephalocele of other sites
0.000 0.996 0.004
Q01.2 Occipital encephalocele
0.000 0.996 0.004
Q01.1 Nasofrontal encephalocele
0.000 0.996 0.004
Q01.0 Frontal encephalocele
0.000 0.996 0.004
Q70.3 Webbed toes
0.000 0.996 0.004
Q74.0 Other congenital malformations of upper limb(s), including shoulder girdle
0.000 0.996 0.004
Q65.8 Other congenital deformities of hip
0.000 0.996 0.004
S82.10 Fracture of upper end of tibia (closed)
0.004 0.996 0.000
Q03.9 Congenital hydrocephalus, unspecified
0.000 0.996 0.004
Q03.8 Other congenital hydrocephalus
0.000 0.996 0.004
Q03.1 Atresia of foramina of Magendie and Luschka
0.000 0.996 0.004
Q87.0 Congenital malformation syndromes predominantly affecting facial appearance
0.000 0.996 0.004
Q96 Turner's syndrome
0.000 0.996 0.004
Q79.0 Congenital diaphragmatic hernia
0.000 0.996 0.004
Q82.8 Other specified congenital malformations of skin
0.000 0.996 0.004
Q03.0 Malformations of aqueduct of Sylvius
0.000 0.996 0.004
Q66.7 Pes cavus
0.000 0.996 0.004
Q66.0 Talipes equinovarus
0.000 0.996 0.004
Q82.0 Hereditary lymphoedema
0.000 0.996 0.004
Q97 Other sex chromosome abnormalities, female phenotype, not elsewhere classified
0.000 0.996 0.004
Q95 Balanced rearrangements and structural markers, not elsewhere classified
0.000 0.996 0.004
Q93 Monosomies and deletions from the autosomes, not elsewhere classified
0.000 0.996 0.004
Q92 Other trisomies and partial trisomies of the autosomes, not elsewhere classified
0.000 0.996 0.004
Q91 Edwards' syndrome and Patau's syndrome
0.000 0.996 0.004
S85 Injury of blood vessels at lower leg level
0.004 0.996 0.000
Q04.9 Congenital malformation of brain, unspecified
0.000 0.996 0.004
Q04.5 Megalencephaly
0.000 0.996 0.004
Q04.4 Septo-optic dysplasia
0.000 0.996 0.004
Q04.3 Other reduction deformities of brain
0.000 0.996 0.004
Q04.2 Holoprosencephaly
0.000 0.996 0.004
Q04.1 Arhinencephaly
0.000 0.996 0.004
Q04.0 Congenital malformations of corpus callosum
0.000 0.996 0.004
Q99 Other chromosome abnormalities, not elsewhere classified
0.000 0.996 0.004
S83 Dislocation, sprain and strain of joints and ligaments of knee
0.004 0.996 0.000
Q24.9 Congenital malformation of the heart, unspecified
0.000 0.996 0.004
Q83.9 Congenital malformation of breast, unspecified
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
J41.8 Mixed simple and mucopurulent chronic bronchitis
0.000 0.996 0.004
J41.1 Mucopurulent chronic bronchitis
0.000 0.996 0.004
Q80.9 Congenital ichthyosis, unspecified
0.000 0.996 0.004
Q60 Renal agenesis and other reduction defects of kidney
0.000 0.996 0.004
Q50-Q56 Congenital malformations of genital organs
0.000 0.996 0.004
Q74.9 Unspecified congenital malformation of limb(s)
0.000 0.996 0.004
Q74.8 Other specified congenital malformations of limb(s)
0.000 0.996 0.004
Q74.3 Arthrogryposis multiplex congenita
0.000 0.996 0.004
Q78.9 Osteochondrodysplasia, unspecified
0.000 0.996 0.004
Q78.8 Other specified osteochondrodysplasias
0.000 0.996 0.004
Q78.6 Multiple congenital exostoses
0.000 0.996 0.004
Q78.5 Metaphyseal dysplasia
0.000 0.996 0.004
Q78.4 Enchondromatosis
0.000 0.996 0.004
Q78.3 Progressive diaphyseal dysplasia
0.000 0.996 0.004
Q78.1 Polyostotic fibrous dysplasia
0.000 0.996 0.004
J43.1 Panlobular emphysema
0.000 0.996 0.004
J43.0 MacLeod's syndrome
0.000 0.996 0.004
Q66.2 Metatarsus varus
0.000 0.996 0.004
Q74.2 Other congenital malformations of lower limb(s), including pelvic girdle
0.000 0.996 0.004
Q79.9 Congenital malformation of musculoskeletal system, unspecified
0.000 0.996 0.004
Q79.5 Other congenital malformations of abdominal wall
0.000 0.996 0.004
Q79.4 Prune belly syndrome
0.000 0.996 0.004
Q79.3 Gastroschisis
0.000 0.996 0.004
Q79.2 Exomphalos
0.000 0.996 0.004
Q66.5 Congenital pes planus
0.000 0.996 0.004
Q66.4 Talipes calcaneovalgus
0.000 0.996 0.004
Q66.1 Talipes calcaneovarus
0.000 0.996 0.004
Q83.3 Accessory nipple
0.000 0.996 0.004
Q27.3 Peripheral arteriovenous malformation
0.000 0.996 0.004
Q76.1 Klippel-Feil syndrome
0.000 0.996 0.004
S88 Traumatic amputation of lower leg
0.004 0.996 0.000
J43.8 Other emphysema
0.000 0.996 0.004
Q68.8 Other specified congenital musculoskeletal deformities
0.000 0.996 0.004
Q87.8 Other specified congenital malformation syndromes, not elsewhere classified
0.000 0.996 0.004
T85.6 Mechanical complication of other specified internal prosthetic devices, implants and grafts
0.000 0.996 0.004
S84 Injury of nerves at lower leg level
0.004 0.996 0.000
D51.0 Vitamin B12 deficiency anaemia due to intrinsic factor deficiency
0.000 0.996 0.004
Q70.9 Syndactyly, unspecified
0.000 0.996 0.004
Q70.4 Polysyndactyly
0.000 0.996 0.004
Q70.2 Fused toes
0.000 0.996 0.004
Q70.1 Webbed fingers
0.000 0.996 0.004
Q70.0 Fused fingers
0.000 0.996 0.004
Q79.1 Other congenital malformations of diaphragm
0.000 0.996 0.004
Q85.8 Other phakomatoses, not elsewhere classified
0.000 0.996 0.004
Q38-Q45 Other congenital malformations of the digestive system
0.000 0.996 0.004
Q76.0 Spina bifida occulta
0.000 0.996 0.004
S82.90 Fracture of lower leg, part unspecified (closed)
0.004 0.996 0.000
Q78.2 Osteopetrosis
0.000 0.996 0.004
Q15 Other congenital malformations of eye
0.000 0.996 0.004
Q80.8 Other congenital ichthyosis
0.000 0.996 0.004
Q80.4 Harlequin foetus
0.000 0.996 0.004
Q80.3 Congenital bullous ichthyosiform erythroderma
0.000 0.996 0.004
Q80.2 Lamellar ichthyosis
0.000 0.996 0.004
Q80.1 X-linked ichthyosis
0.000 0.996 0.004
Q80.0 Ichthyosis vulgaris
0.000 0.996 0.004
Q17 Other congenital malformations of ear
0.000 0.996 0.004
S82.21 Fracture of shaft of tibia (open)
0.004 0.996 0.000
Q18 Other congenital malformations of face and neck
0.000 0.996 0.004
Q13 Congenital malformations of anterior segment of eye
0.000 0.996 0.004
Q12 Congenital lens malformations
0.000 0.996 0.004
Q98 Other sex chromosome abnormalities, male phenotype, not elsewhere classified
0.000 0.996 0.004
S87 Crushing injury of lower leg
0.004 0.996 0.000
S82.51 Fracture of medial malleolus (open)
0.004 0.996 0.000
Q68.5 Congenital bowing of long bones of leg, unspecified
0.000 0.996 0.004
Q68.4 Congenital bowing of tibia and fibula
0.000 0.996 0.004
Q68.3 Congenital bowing of femur
0.000 0.996 0.004
Q68.2 Congenital deformity of knee
0.000 0.996 0.004
Q68.1 Congenital deformity of hand
0.000 0.996 0.004
Q68.0 Congenital deformity of sternocleidomastoid muscle
0.000 0.996 0.004
Q79.6 Ehlers-Danlos syndrome
0.000 0.996 0.004
Q66.9 Congenital deformity of feet, unspecified
0.000 0.996 0.004
S82.91 Fracture of lower leg, part unspecified (open)
0.004 0.996 0.000
Q83.1 Accessory breast
0.000 0.996 0.004
Q16 Congenital malformations of ear causing impairment of hearing
0.000 0.996 0.004
Q11 Anophthalmos, microphthalmos and macrophthalmos
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
Q65.9 Congenital deformity of hip, unspecified
0.000 0.996 0.004
Q65.6 Unstable hip
0.000 0.996 0.004
Q65.5 Congenital subluxation of hip, unspecified
0.000 0.996 0.004
Q65.4 Congenital subluxation of hip, bilateral
0.000 0.996 0.004
Q65.3 Congenital subluxation of hip, unilateral
0.000 0.996 0.004
Q65.0 Congenital dislocation of hip, unilateral
0.000 0.996 0.004
Q82.9 Congenital malformation of skin, unspecified
0.000 0.996 0.004
Q82.4 Ectodermal dysplasia (anhidrotic)
0.000 0.996 0.004
Q82.3 Incontinentia pigmenti
0.000 0.996 0.004
Q82.1 Xeroderma pigmentosum
0.000 0.996 0.004
Q36 Cleft lip
0.000 0.996 0.004
J43.9 Emphysema, unspecified
0.000 0.996 0.004
J45 Asthma
0.000 0.996 0.004
Q04.6 Congenital cerebral cysts
0.000 0.996 0.004
Q66.6 Other congenital valgus deformities of feet
0.000 0.996 0.004
Q69.9 Polydactyly, unspecified
0.000 0.996 0.004
Q69.2 Accessory toe(s)
0.000 0.996 0.004
Q69.1 Accessory thumb(s)
0.000 0.996 0.004
Q69.0 Accessory finger(s)
0.000 0.996 0.004
Q71.9 Reduction defect of upper limb, unspecified
0.000 0.996 0.004
Q71.8 Other reduction defects of upper limb(s)
0.000 0.996 0.004
Q71.6 Lobster-claw hand
0.000 0.996 0.004
Q71.5 Longitudinal reduction defect of ulna
0.000 0.996 0.004
Q71.4 Longitudinal reduction defect of radius
0.000 0.996 0.004
Q71.3 Congenital absence of hand and finger(s)
0.000 0.996 0.004
Q71.2 Congenital absence of both forearm and hand
0.000 0.996 0.004
Q71.1 Congenital absence of upper arm and forearm with hand present
0.000 0.996 0.004
Q71.0 Congenital complete absence of upper limb(s)
0.000 0.996 0.004
Q72.9 Reduction defect of lower limb, unspecified
0.000 0.996 0.004
Q72.8 Other reduction defects of lower limb(s)
0.000 0.996 0.004
Q72.7 Split foot
0.000 0.996 0.004
Q72.6 Longitudinal reduction defect of fibula
0.000 0.996 0.004
Q72.5 Longitudinal reduction defect of tibia
0.000 0.996 0.004
Q72.4 Longitudinal reduction defect of femur
0.000 0.996 0.004
Q72.3 Congenital absence of foot and toe(s)
0.000 0.996 0.004
Q72.2 Congenital absence of both lower leg and foot
0.000 0.996 0.004
Q72.1 Congenital absence of thigh and lower leg with foot present
0.000 0.996 0.004
Q72.0 Congenital complete absence of lower limb(s)
0.000 0.996 0.004
Q73.8 Other reduction defects of unspecified limb(s)
0.000 0.996 0.004
Q73.1 Phocomelia, unspecified limb(s)
0.000 0.996 0.004
Q73.0 Congenital absence of unspecified limb(s)
0.000 0.996 0.004
Q76.9 Congenital malformation of bony thorax, unspecified
0.000 0.996 0.004
Q76.8 Other congenital malformations of bony thorax
0.000 0.996 0.004
Q76.7 Congenital malformation of sternum
0.000 0.996 0.004
Q76.6 Other congenital malformations of ribs
0.000 0.996 0.004
Q76.3 Congenital scoliosis due to congenital bony malformation
0.000 0.996 0.004
Q76.2 Congenital spondylolisthesis
0.000 0.996 0.004
Q85.9 Phakomatosis, unspecified
0.000 0.996 0.004
Q10 Congenital malformations of eyelid, lachrymal apparatus and orbit
0.000 0.996 0.004
Q66.3 Other congenital varus deformities of feet
0.000 0.996 0.004
Q81.9 Epidermolysis bullosa, unspecified
0.000 0.996 0.004
Q81.8 Other epidermolysis bullosa
0.000 0.996 0.004
Q81.2 Epidermolysis bullosa dystrophica
0.000 0.996 0.004
Q81.1 Epidermolysis bullosa letalis
0.000 0.996 0.004
Q81.0 Epidermolysis bullosa simplex
0.000 0.996 0.004
Q84.9 Congenital malformation of integument, unspecified
0.000 0.996 0.004
Q84.8 Other specified congenital malformations of integument
0.000 0.996 0.004
Q84.6 Other congenital malformations of nails
0.000 0.996 0.004
Q84.5 Enlarged and hypertrophic nails
0.000 0.996 0.004
Q84.4 Congenital leukonychia
0.000 0.996 0.004
Q84.3 Anonychia
0.000 0.996 0.004
Q84.2 Other congenital malformations of hair
0.000 0.996 0.004
Q84.1 Congenital morphological disturbances of hair, not elsewhere classified
0.000 0.996 0.004
Q84.0 Congenital alopecia
0.000 0.996 0.004
Q86.8 Other congenital malformation syndromes due to known exogenous causes
0.000 0.996 0.004
Q86.2 Dysmorphism due to warfarin
0.000 0.996 0.004
Q86.1 Foetal hydantoin syndrome
0.000 0.996 0.004
Q86.0 Foetal alcohol syndrome (dysmorphic)
0.000 0.996 0.004
S83.5 Sprain and strain involving (anterior)(posterior) cruciate ligament of knee
0.004 0.996 0.000
Q14 Congenital malformations of posterior segment of eye
0.000 0.996 0.004
Q30 Congenital malformations of nose
0.000 0.996 0.004
Q90.9 Down's syndrome, unspecified
0.000 0.996 0.004
Q65.1 Congenital dislocation of hip, bilateral
0.000 0.996 0.004
Q35 Cleft palate
0.000 0.996 0.004
Q76.5 Cervical rib
0.000 0.996 0.004
S89.9 Unspecified injury of lower leg
0.004 0.996 0.000
Q60.2 Renal agenesis, unspecified
0.000 0.996 0.004
Q75.9 Congenital malformation of skull and face bones, unspecified
0.000 0.996 0.004
Q75.8 Other specified congenital malformations of skull and face bones
0.000 0.996 0.004
Q75.5 Oculomandibular dysostosis
0.000 0.996 0.004
Q75.3 Macrocephaly
0.000 0.996 0.004
Q75.2 Hypertelorism
0.000 0.996 0.004
Q75.1 Craniofacial dysostosis
0.000 0.996 0.004
Q75.0 Craniosynostosis
0.000 0.996 0.004
Q77.9 Osteochondrodysplasia with defects of growth of tubular bones and spine, unspecified
0.000 0.996 0.004
Q77.8 Other osteochondrodysplasia with defects of growth of tubular bones and spine
0.000 0.996 0.004
Q77.7 Spondyloepiphyseal dysplasia
0.000 0.996 0.004
Q77.6 Chondroectodermal dysplasia
0.000 0.996 0.004
Q77.5 Diastrophic dysplasia
0.000 0.996 0.004
Q77.3 Chondrodysplasia punctata
0.000 0.996 0.004
Q77.2 Short rib syndrome
0.000 0.996 0.004
Q77.1 Thanatophoric short stature
0.000 0.996 0.004
Q77.0 Achondrogenesis
0.000 0.996 0.004
S83.6 Sprain and strain of other and unspecified parts of knee
0.004 0.996 0.000
S82.71 Multiple fractures of lower leg (open)
0.004 0.996 0.000
Q60.0 Renal agenesis, unilateral
0.000 0.996 0.004
Q31 Congenital malformations of larynx
0.000 0.996 0.003
Q37 Cleft palate with cleft lip
0.000 0.996 0.003
S82.70 Multiple fractures of lower leg (closed)
0.004 0.996 0.000
Q89.9 Congenital malformation, unspecified
0.000 0.996 0.004
Q89.8 Other specified congenital malformations
0.000 0.996 0.004
Q89.7 Multiple congenital malformations, not elsewhere classified
0.000 0.996 0.004
Q89.4 Conjoined twins
0.000 0.996 0.004
Q89.1 Congenital malformations of adrenal gland
0.000 0.996 0.004
Q07.9 Congenital malformation of nervous system, unspecified
0.000 0.996 0.003
Q89.2 Congenital malformations of other endocrine glands
0.000 0.996 0.004
S86 Injury of muscle and tendon at lower leg level
0.003 0.996 0.000
J45.0 Predominantly allergic asthma
0.000 0.996 0.004
Q82.2 Mastocytosis
0.000 0.996 0.003
S89.8 Other specified injuries of lower leg
0.004 0.996 0.000
Q65.2 Congenital dislocation of hip, unspecified
0.000 0.996 0.003
Q89.0 Congenital malformations of spleen
0.000 0.996 0.003
Q18.0 Sinus, fistula and cyst of branchial cleft
0.000 0.996 0.003
Q85.0 Neurofibromatosis (nonmalignant)
0.000 0.996 0.003
Q55 Other congenital malformations of male genital organs
0.000 0.996 0.003
S82.41 Fracture of fibula alone (open)
0.003 0.996 0.000
Q67.8 Other congenital deformities of chest
0.000 0.996 0.003
Q67.7 Pectus carinatum
0.000 0.996 0.003
Q67.3 Plagiocephaly
0.000 0.996 0.003
Q67.2 Dolichocephaly
0.000 0.996 0.003
Q67.1 Compression facies
0.000 0.996 0.003
Q67.0 Facial asymmetry
0.000 0.996 0.003
Q85.1 Tuberous sclerosis
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
S82.3 Fracture of lower end of tibia
0.003 0.996 0.000
Q75.4 Mandibulofacial dysostosis
0.000 0.996 0.003
Q76.4 Other congenital malformations of spine, not associated with scoliosis
0.000 0.996 0.003
Q77.4 Achondroplasia
0.000 0.996 0.003
Q67.4 Other congenital deformities of skull, face and jaw
0.000 0.996 0.003
Q89.3 Situs inversus
0.000 0.996 0.003
S89.7 Multiple injuries of lower leg
0.003 0.996 0.000
S89.1 Other specified injuries of lower leg
0.003 0.996 0.000
S89.0 Multiple injuries of lower leg
0.003 0.996 0.000
Q67.6 Pectus excavatum
0.000 0.996 0.003
Q96.9 Turner's syndrome, unspecified
0.000 0.996 0.003
S85.1 Injury of (anterior)(posterior) tibial artery
0.003 0.996 0.000
Q40 Other congenital malformations of upper alimentary tract
0.000 0.996 0.003
Q82.5 Congenital nonneoplastic naevus
0.000 0.997 0.003
S83.1 Dislocation of knee
0.003 0.997 0.000
Q96.8 Other variants of Turner's syndrome
0.000 0.997 0.003
Q96.4 Mosaicism, 45,X/other cell line(s) with abnormal sex chromosome
0.000 0.997 0.003
Q96.3 Mosaicism, 45,X/46,XX or XY
0.000 0.997 0.003
Q96.2 Karyotype 46,X with abnormal sex chromosome, except iso (Xq)
0.000 0.997 0.003
Q96.1 Karyotype 46,X iso (Xq)
0.000 0.997 0.003
Q96.0 Karyotype 45,X
0.000 0.997 0.003
Q07.8 Other specified congenital malformations of nervous system
0.000 0.997 0.003
G55.1 Nerve root and plexus compressions in intervertebral disk disorders
0.000 0.997 0.003
Q91.7 Patau's syndrome, unspecified
0.000 0.997 0.003
Q91.6 Trisomy 13, translocation
0.000 0.997 0.003
Q91.5 Trisomy 13, mosaicism (mitotic nondisjunction)
0.000 0.997 0.003
Q91.4 Trisomy 13, meiotic nondisjunction
0.000 0.997 0.003
Q91.3 Edwards' syndrome, unspecified
0.000 0.997 0.003
Q91.2 Trisomy 18, translocation
0.000 0.997 0.003
Q91.1 Trisomy 18, mosaicism (mitotic nondisjunction)
0.000 0.997 0.003
Q91.0 Trisomy 18, meiotic nondisjunction
0.000 0.997 0.003
Q92.9 Trisomy and partial trisomy of autosomes, unspecified
0.000 0.997 0.003
Q92.8 Other specified trisomies and partial trisomies of autosomes
0.000 0.997 0.003
Q92.7 Triploidy and polyploidy
0.000 0.997 0.003
Q92.6 Extra marker chromosomes
0.000 0.997 0.003
Q92.5 Duplications with other complex rearrangements
0.000 0.997 0.003
Q92.4 Duplications seen only at prometaphase
0.000 0.997 0.003
Q92.3 Minor partial trisomy
0.000 0.997 0.003
Q92.2 Major partial trisomy
0.000 0.997 0.003
Q92.1 Whole chromosome trisomy, mosaicism (mitotic nondisjunction)
0.000 0.997 0.003
Q92.0 Whole chromosome trisomy, meiotic nondisjunction
0.000 0.997 0.003
Q93.9 Deletion from autosomes, unspecified
0.000 0.997 0.003
Q93.8 Other deletions from the autosomes
0.000 0.997 0.003
Q93.7 Deletions with other complex rearrangements
0.000 0.997 0.003
Q93.6 Deletions seen only at prometaphase
0.000 0.997 0.003
Q93.5 Other deletions of part of a chromosome
0.000 0.997 0.003
Q93.4 Deletion of short arm of chromosome 5
0.000 0.997 0.003
Q93.3 Deletion of short arm of chromosome 4
0.000 0.997 0.003
Q93.2 Chromosome replaced with ring or dicentric
0.000 0.997 0.003
Q93.1 Whole chromosome monosomy, mosaicism (mitotic nondisjunction)
0.000 0.997 0.003
Q93.0 Whole chromosome monosomy, meiotic nondisjunction
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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