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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

rs2584363
log Bayes Factor = <0.0001
Chromosome 8   position 108,158,383  (GRCh37) Explore rs2584363 on Ensembl!
Variant rs2584363 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
  
Q66.8 Other congenital deformities of feet
0.000 0.947 0.053
Q66 Congenital deformities of feet
0.000 0.949 0.051
Q65-Q79 Congenital malformations and deformations of the musculoskeletal system
0.000 0.955 0.045
Q66.6 Other congenital valgus deformities of feet
0.000 0.956 0.044
Q66.2 Metatarsus varus
0.000 0.957 0.043
Q65 Congenital deformities of hip
0.000 0.958 0.042
Q65.8 Other congenital deformities of hip
0.000 0.961 0.039
Q66.9 Congenital deformity of feet, unspecified
0.000 0.961 0.039
Q66.0 Talipes equinovarus
0.000 0.963 0.037
Q79 Congenital malformations of musculoskeletal system, not elsewhere classified
0.000 0.963 0.037
Q66.5 Congenital pes planus
0.000 0.963 0.037
Q66.4 Talipes calcaneovalgus
0.000 0.963 0.037
Q66.1 Talipes calcaneovarus
0.000 0.963 0.037
Q66.7 Pes cavus
0.000 0.964 0.036
Q76 Congenital malformations of spine and bony thorax
0.000 0.965 0.035
Q77 Osteochondrodysplasia with defects of growth of tubular bones and spine
0.000 0.966 0.034
Q70 Syndactyly
0.000 0.966 0.034
Q67 Congenital musculoskeletal deformities of head, face, spine and chest
0.000 0.967 0.033
Q65.2 Congenital dislocation of hip, unspecified
0.000 0.967 0.033
Q75 Other congenital malformations of skull and face bones
0.000 0.967 0.032
Q73 Reduction defects of unspecified limb
0.000 0.967 0.032
Q72 Reduction defects of lower limb
0.000 0.967 0.032
Q71 Reduction defects of upper limb
0.000 0.967 0.032
Q69 Polydactyly
0.000 0.967 0.032
Q68 Other congenital musculoskeletal deformities
0.000 0.967 0.032
Q66.3 Other congenital varus deformities of feet
0.000 0.968 0.031
Q79.6 Ehlers-Danlos syndrome
0.000 0.969 0.031
Q78 Other osteochondrodysplasias
0.000 0.969 0.031
Q65.9 Congenital deformity of hip, unspecified
0.000 0.969 0.031
Q65.6 Unstable hip
0.000 0.970 0.030
Q65.5 Congenital subluxation of hip, unspecified
0.000 0.970 0.030
Q65.4 Congenital subluxation of hip, bilateral
0.000 0.970 0.030
Q65.3 Congenital subluxation of hip, unilateral
0.000 0.970 0.030
Q65.0 Congenital dislocation of hip, unilateral
0.000 0.970 0.030
Q76.0 Spina bifida occulta
0.000 0.971 0.029
Q65.1 Congenital dislocation of hip, bilateral
0.000 0.971 0.029
Q79.0 Congenital diaphragmatic hernia
0.000 0.971 0.028
Q79.1 Other congenital malformations of diaphragm
0.000 0.972 0.028
Q67.5 Congenital deformity of spine
0.000 0.973 0.027
Q79.9 Congenital malformation of musculoskeletal system, unspecified
0.000 0.973 0.027
Q79.5 Other congenital malformations of abdominal wall
0.000 0.973 0.027
Q79.4 Prune belly syndrome
0.000 0.973 0.027
Q79.3 Gastroschisis
0.000 0.973 0.027
Q79.2 Exomphalos
0.000 0.973 0.027
Q76.5 Cervical rib
0.000 0.973 0.027
Q77.4 Achondroplasia
0.000 0.974 0.026
Q74 Other congenital malformations of limb(s)
0.000 0.974 0.026
Q70.3 Webbed toes
0.000 0.974 0.026
Q76.9 Congenital malformation of bony thorax, unspecified
0.000 0.975 0.025
Q76.8 Other congenital malformations of bony thorax
0.000 0.975 0.025
Q76.7 Congenital malformation of sternum
0.000 0.975 0.025
Q76.6 Other congenital malformations of ribs
0.000 0.975 0.025
Q76.3 Congenital scoliosis due to congenital bony malformation
0.000 0.975 0.025
Q76.2 Congenital spondylolisthesis
0.000 0.975 0.025
Q76.4 Other congenital malformations of spine, not associated with scoliosis
0.000 0.975 0.025
Q77.9 Osteochondrodysplasia with defects of growth of tubular bones and spine, unspecified
0.000 0.975 0.025
Q77.8 Other osteochondrodysplasia with defects of growth of tubular bones and spine
0.000 0.975 0.025
Q77.7 Spondyloepiphyseal dysplasia
0.000 0.975 0.025
Q77.6 Chondroectodermal dysplasia
0.000 0.975 0.025
Q77.5 Diastrophic dysplasia
0.000 0.975 0.025
Q77.3 Chondrodysplasia punctata
0.000 0.975 0.025
Q77.2 Short rib syndrome
0.000 0.975 0.025
Q77.1 Thanatophoric short stature
0.000 0.975 0.025
Q77.0 Achondrogenesis
0.000 0.975 0.025
Q70.9 Syndactyly, unspecified
0.000 0.975 0.024
Q70.4 Polysyndactyly
0.000 0.975 0.024
Q70.2 Fused toes
0.000 0.975 0.024
Q70.1 Webbed fingers
0.000 0.975 0.024
Q70.0 Fused fingers
0.000 0.975 0.024
Q79.8 Other congenital malformations of musculoskeletal system
0.000 0.975 0.024
Q67.8 Other congenital deformities of chest
0.000 0.976 0.024
Q67.7 Pectus carinatum
0.000 0.976 0.024
Q67.3 Plagiocephaly
0.000 0.976 0.024
Q67.2 Dolichocephaly
0.000 0.976 0.024
Q67.1 Compression facies
0.000 0.976 0.024
Q67.0 Facial asymmetry
0.000 0.976 0.024
Q78.2 Osteopetrosis
0.000 0.976 0.024
Q69.9 Polydactyly, unspecified
0.000 0.976 0.023
Q69.2 Accessory toe(s)
0.000 0.976 0.023
Q69.1 Accessory thumb(s)
0.000 0.976 0.023
Q69.0 Accessory finger(s)
0.000 0.976 0.023
Q71.9 Reduction defect of upper limb, unspecified
0.000 0.976 0.023
Q71.8 Other reduction defects of upper limb(s)
0.000 0.976 0.023
Q71.6 Lobster-claw hand
0.000 0.976 0.023
Q71.5 Longitudinal reduction defect of ulna
0.000 0.976 0.023
Q71.4 Longitudinal reduction defect of radius
0.000 0.976 0.023
Q71.3 Congenital absence of hand and finger(s)
0.000 0.976 0.023
Q71.2 Congenital absence of both forearm and hand
0.000 0.976 0.023
Q71.1 Congenital absence of upper arm and forearm with hand present
0.000 0.976 0.023
Q71.0 Congenital complete absence of upper limb(s)
0.000 0.976 0.023
Q72.9 Reduction defect of lower limb, unspecified
0.000 0.976 0.023
Q72.8 Other reduction defects of lower limb(s)
0.000 0.976 0.023
Q72.7 Split foot
0.000 0.976 0.023
Q72.6 Longitudinal reduction defect of fibula
0.000 0.976 0.023
Q72.5 Longitudinal reduction defect of tibia
0.000 0.976 0.023
Q72.4 Longitudinal reduction defect of femur
0.000 0.976 0.023
Q72.3 Congenital absence of foot and toe(s)
0.000 0.976 0.023
Q72.2 Congenital absence of both lower leg and foot
0.000 0.976 0.023
Q72.1 Congenital absence of thigh and lower leg with foot present
0.000 0.976 0.023
Q72.0 Congenital complete absence of lower limb(s)
0.000 0.976 0.023
Q73.8 Other reduction defects of unspecified limb(s)
0.000 0.976 0.023
Q73.1 Phocomelia, unspecified limb(s)
0.000 0.976 0.023
Q73.0 Congenital absence of unspecified limb(s)
0.000 0.976 0.023
Q75.9 Congenital malformation of skull and face bones, unspecified
0.000 0.976 0.023
Q75.8 Other specified congenital malformations of skull and face bones
0.000 0.976 0.023
Q75.5 Oculomandibular dysostosis
0.000 0.976 0.023
Q75.4 Mandibulofacial dysostosis
0.000 0.976 0.023
Q75.3 Macrocephaly
0.000 0.976 0.023
Q75.2 Hypertelorism
0.000 0.976 0.023
Q75.1 Craniofacial dysostosis
0.000 0.976 0.023
Q75.0 Craniosynostosis
0.000 0.976 0.023
Q68.5 Congenital bowing of long bones of leg, unspecified
0.000 0.976 0.023
Q68.4 Congenital bowing of tibia and fibula
0.000 0.976 0.023
Q68.3 Congenital bowing of femur
0.000 0.976 0.023
Q68.2 Congenital deformity of knee
0.000 0.976 0.023
Q68.1 Congenital deformity of hand
0.000 0.976 0.023
Q68.0 Congenital deformity of sternocleidomastoid muscle
0.000 0.976 0.023
Q68.8 Other specified congenital musculoskeletal deformities
0.000 0.977 0.023
Q67.6 Pectus excavatum
0.000 0.977 0.023
Q78.9 Osteochondrodysplasia, unspecified
0.000 0.978 0.022
Q78.8 Other specified osteochondrodysplasias
0.000 0.978 0.022
Q78.6 Multiple congenital exostoses
0.000 0.978 0.022
Q78.5 Metaphyseal dysplasia
0.000 0.978 0.022
Q78.4 Enchondromatosis
0.000 0.978 0.022
Q78.3 Progressive diaphyseal dysplasia
0.000 0.978 0.022
Q78.1 Polyostotic fibrous dysplasia
0.000 0.978 0.022
Q24 Other congenital malformations of heart
0.000 0.978 0.022
Q20-Q28 Congenital malformations of the circulatory system
0.000 0.978 0.022
Q24.9 Congenital malformation of the heart, unspecified
0.000 0.978 0.022
Q76.1 Klippel-Feil syndrome
0.000 0.978 0.021
Q67.4 Other congenital deformities of skull, face and jaw
0.000 0.978 0.021
Chapter XVII Congenital malformations, deformations and chromosomal abnormalities
0.000 0.979 0.021
Q24.4 Congenital subaortic stenosis
0.000 0.981 0.019
Q74.9 Unspecified congenital malformation of limb(s)
0.000 0.981 0.019
Q74.8 Other specified congenital malformations of limb(s)
0.000 0.981 0.019
Q74.3 Arthrogryposis multiplex congenita
0.000 0.981 0.019
Q28 Other congenital malformations of circulatory system
0.000 0.981 0.019
Q78.0 Osteogenesis imperfecta
0.000 0.981 0.018
Q22 Congenital malformations of pulmonary and tricuspid valves
0.000 0.981 0.018
Q74.1 Congenital malformation of knee
0.000 0.982 0.018
Q74.0 Other congenital malformations of upper limb(s), including shoulder girdle
0.000 0.982 0.018
Q24.6 Congenital heart block
0.000 0.982 0.018
Q24.5 Malformation of coronary vessels
0.000 0.982 0.018
Q10-Q18 Congenital malformations of eye, ear, face and neck
0.000 0.983 0.016
Q24.3 Pulmonary infundibular stenosis
0.000 0.984 0.016
Q24.2 Cor triatriatum
0.000 0.984 0.016
Q24.1 Levocardia
0.000 0.984 0.016
Q26 Congenital malformations of great veins
0.000 0.984 0.016
Q20 Congenital malformations of cardiac chambers and connexions
0.000 0.984 0.016
Q23 Congenital malformations of aortic and mitral valves
0.000 0.984 0.016
Q25 Congenital malformations of great arteries
0.000 0.984 0.016
Q38-Q45 Other congenital malformations of the digestive system
0.000 0.984 0.016
Q60-Q64 Congenital malformations of the urinary system
0.000 0.984 0.016
Q74.2 Other congenital malformations of lower limb(s), including pelvic girdle
0.000 0.984 0.015
Q28.2 Arteriovenous malformation of cerebral vessels
0.000 0.984 0.016
Q17 Other congenital malformations of ear
0.000 0.984 0.015
Q21 Congenital malformations of cardiac septa
0.000 0.985 0.015
Q27 Other congenital malformations of peripheral vascular system
0.000 0.985 0.015
Q24.0 Dextrocardia
0.000 0.985 0.015
Q22.1 Congenital pulmonary valve stenosis
0.000 0.985 0.015
Q17.5 Prominent ear
0.000 0.985 0.015
Q28.0 Arteriovenous malformation of precerebral vessels
0.000 0.985 0.015
Q22.5 Ebstein's anomaly
0.000 0.985 0.015
Q35-Q37 Cleft lip and cleft palate
0.000 0.985 0.014
Q90-Q99 Chromosomal abnormalities, not elsewhere classified
0.000 0.986 0.014
Q28.3 Other malformations of cerebral vessels
0.000 0.986 0.014
Q30-Q34 Congenital malformations of the respiratory system
0.000 0.986 0.014
Q28.9 Congenital malformation of circulatory system, unspecified
0.000 0.986 0.014
Q28.8 Other specified congenital malformations of circulatory system
0.000 0.986 0.014
Q28.1 Other malformations of precerebral vessels
0.000 0.986 0.014
Q21.9 Congenital malformation of cardiac septum, unspecified
0.000 0.986 0.014
Q22.9 Congenital malformation of tricuspid valve, unspecified
0.000 0.986 0.013
Q22.8 Other congenital malformations of tricuspid valve
0.000 0.986 0.013
Q22.6 Hypoplastic right heart syndrome
0.000 0.986 0.013
Q22.4 Congenital tricuspid stenosis
0.000 0.986 0.013
Q22.3 Other congenital malformations of pulmonary valve
0.000 0.986 0.013
Q22.2 Congenital pulmonary valve insufficiency
0.000 0.986 0.013
Q22.0 Pulmonary valve atresia
0.000 0.986 0.013
Q00-Q07 Congenital malformations of the nervous system
0.000 0.987 0.013
Q24.8 Other specified congenital malformations of heart
0.000 0.987 0.013
Q40 Other congenital malformations of upper alimentary tract
0.000 0.987 0.013
Q23.0 Congenital stenosis of aortic valve
0.000 0.987 0.013
Q39 Congenital malformations of oesophagus
0.000 0.987 0.013
Q63 Other congenital malformations of kidney
0.000 0.987 0.013
Q27.9 Congenital malformation of peripheral vascular system, unspecified
0.000 0.987 0.013
Q25.7 Other congenital malformations of pulmonary artery
0.000 0.987 0.013
Q64 Other congenital malformations of urinary system
0.000 0.987 0.013
D35.1 Parathyroid gland
0.000 0.987 0.013
Q23.3 Congenital mitral insufficiency
0.000 0.987 0.012
Q25.6 Stenosis of pulmonary artery
0.000 0.988 0.012
Q11 Anophthalmos, microphthalmos and macrophthalmos
0.000 0.988 0.012
Q14 Congenital malformations of posterior segment of eye
0.000 0.988 0.012
Q13 Congenital malformations of anterior segment of eye
0.000 0.988 0.012
Q44 Congenital malformations of gallbladder, bile ducts and liver
0.000 0.988 0.012
Q20.9 Congenital malformation of cardiac chambers and connexions, unspecified
0.000 0.988 0.012
Q20.8 Other congenital malformations of cardiac chambers and connexions
0.000 0.988 0.012
Q20.6 Isomerism of atrial appendages
0.000 0.988 0.012
Q20.5 Discordant atrioventricular connexion
0.000 0.988 0.012
Q20.4 Double inlet ventricle
0.000 0.988 0.012
Q20.3 Discordant ventriculoarterial connexion
0.000 0.988 0.012
Q20.2 Double outlet left ventricle
0.000 0.988 0.012
Q20.1 Double outlet right ventricle
0.000 0.988 0.012
Q20.0 Common arterial trunk
0.000 0.988 0.012
Q26.9 Congenital malformation of great vein, unspecified
0.000 0.988 0.012
Q26.8 Other congenital malformations of great veins
0.000 0.988 0.012
Q26.6 Portal vein-hepatic artery fistula
0.000 0.988 0.012
Q26.5 Anomalous portal venous connexion
0.000 0.988 0.012
Q26.3 Partial anomalous pulmonary venous connexion
0.000 0.988 0.012
Q26.2 Total anomalous pulmonary venous connexion
0.000 0.988 0.012
Q26.1 Persistent left superior vena cava
0.000 0.988 0.012
Q26.0 Congenital stenosis of vena cava
0.000 0.988 0.012
Q16 Congenital malformations of ear causing impairment of hearing
0.000 0.988 0.012
Q26.4 Anomalous pulmonary venous connexion, unspecified
0.000 0.988 0.012
Q23.9 Congenital malformation of aortic and mitral valves, unspecified
0.000 0.988 0.012
Q23.8 Other congenital malformations of aortic and mitral valves
0.000 0.988 0.012
Q23.4 Hypoplastic left heart syndrome
0.000 0.988 0.012
Q23.2 Congenital mitral stenosis
0.000 0.988 0.012
Q25.9 Congenital malformation of great arteries, unspecified
0.000 0.988 0.012
Q25.8 Other congenital malformations of great arteries
0.000 0.988 0.012
Q25.5 Atresia of pulmonary artery
0.000 0.988 0.012
Q25.2 Atresia of aorta
0.000 0.988 0.012
H72.0 Central perforation of tympanic membrane
0.000 0.988 0.012
Q42 Congenital absence, atresia and stenosis of large intestine
0.000 0.988 0.011
Q41 Congenital absence, atresia and stenosis of small intestine
0.000 0.988 0.011
H72.9 Perforation of tympanic membrane, unspecified
0.000 0.988 0.012
H72 Perforation of tympanic membrane
0.000 0.988 0.012
Q25.0 Patent ductus arteriosus
0.000 0.988 0.011
Q25.3 Stenosis of aorta
0.000 0.989 0.011
Q17.9 Congenital malformation of ear, unspecified
0.000 0.989 0.011
Q17.8 Other specified congenital malformations of ear
0.000 0.989 0.011
Q17.4 Misplaced ear
0.000 0.989 0.011
Q17.3 Other misshapen ear
0.000 0.989 0.011
Q17.2 Microtia
0.000 0.989 0.011
Q17.1 Macrotia
0.000 0.989 0.011
Q17.0 Accessory auricle
0.000 0.989 0.011
Q62 Congenital obstructive defects of renal pelvis and congenital malformations of ureter
0.000 0.989 0.011
H72.8 Other perforations of tympanic membrane
0.000 0.989 0.011
Q25.1 Coarctation of aorta
0.000 0.989 0.011
Q21.4 Aortopulmonary septal defect
0.000 0.989 0.011
Q21.2 Atrioventricular septal defect
0.000 0.989 0.011
Q15 Other congenital malformations of eye
0.000 0.989 0.011
Q40.8 Other specified congenital malformations of upper alimentary tract
0.000 0.989 0.011
Q27.4 Congenital phlebectasia
0.000 0.989 0.011
Q27.2 Other congenital malformations of renal artery
0.000 0.989 0.011
Q27.1 Congenital renal artery stenosis
0.000 0.989 0.011
Q27.0 Congenital absence and hypoplasia of umbilical artery
0.000 0.989 0.011
Q98 Other sex chromosome abnormalities, male phenotype, not elsewhere classified
0.000 0.989 0.011
Q10 Congenital malformations of eyelid, lachrymal apparatus and orbit
0.000 0.989 0.011
D35.2 Pituitary gland
0.000 0.989 0.011
Q18 Other congenital malformations of face and neck
0.000 0.989 0.011
Q40.2 Other specified congenital malformations of stomach
0.000 0.989 0.011
Q45 Other congenital malformations of digestive system
0.000 0.989 0.011
Q12 Congenital lens malformations
0.000 0.989 0.011
Q38 Other congenital malformations of tongue, mouth and pharynx
0.000 0.989 0.011
Q64.7 Other congenital malformations of bladder and urethra
0.000 0.989 0.011
Q25.4 Other congenital malformations of aorta
0.000 0.989 0.010
Q36 Cleft lip
0.000 0.989 0.010
Q21.8 Other congenital malformations of cardiac septa
0.000 0.989 0.010
Q21.3 Tetralogy of Fallot
0.000 0.989 0.010
Q97 Other sex chromosome abnormalities, female phenotype, not elsewhere classified
0.000 0.989 0.010
Q95 Balanced rearrangements and structural markers, not elsewhere classified
0.000 0.989 0.010
Q93 Monosomies and deletions from the autosomes, not elsewhere classified
0.000 0.989 0.010
Q92 Other trisomies and partial trisomies of the autosomes, not elsewhere classified
0.000 0.989 0.010
Q91 Edwards' syndrome and Patau's syndrome
0.000 0.989 0.010
Q34 Other congenital malformations of respiratory system
0.000 0.989 0.010
Q33 Congenital malformations of lung
0.000 0.989 0.010
Q32 Congenital malformations of trachea and bronchus
0.000 0.989 0.010
Q80-Q89 Other congenital malformations
0.000 0.989 0.010
Q21.0 Ventricular septal defect
0.000 0.990 0.010
Q63.1 Lobulated, fused and horseshoe kidney
0.000 0.990 0.010
Q37 Cleft palate with cleft lip
0.000 0.990 0.010
Q99 Other chromosome abnormalities, not elsewhere classified
0.000 0.990 0.010
D35 Benign neoplasm of other and unspecified endocrine glands
0.000 0.990 0.010
Q27.8 Other specified congenital malformations of peripheral vascular system
0.000 0.990 0.010
Q60 Renal agenesis and other reduction defects of kidney
0.000 0.990 0.010
Q30 Congenital malformations of nose
0.000 0.990 0.010
S52.00 Fracture of upper end of ulna (closed)
0.010 0.990 0.000
Q39.9 Congenital malformation of oesophagus, unspecified
0.000 0.990 0.010
Q04 Other congenital malformations of brain
0.000 0.990 0.010
Q39.6 Diverticulum of oesophagus
0.000 0.990 0.010
Q63.2 Ectopic kidney
0.000 0.990 0.010
Q01 Encephalocele
0.000 0.990 0.010
Q00 Anencephaly and similar malformations
0.000 0.990 0.010
Q02 Microcephaly
0.000 0.990 0.010
Q40.3 Congenital malformation of stomach, unspecified
0.000 0.990 0.010
Q63.8 Other specified congenital malformations of kidney
0.000 0.990 0.010
Q39.4 Oesophageal web
0.000 0.990 0.010
Q35 Cleft palate
0.000 0.990 0.009
Q06 Other congenital malformations of spinal cord
0.000 0.990 0.010
Q40.9 Congenital malformation of upper alimentary tract, unspecified
0.000 0.990 0.010
Q40.0 Congenital hypertrophic pyloric stenosis
0.000 0.990 0.010
Q44.7 Other congenital malformations of liver
0.000 0.990 0.010
Q44.4 Choledochal cyst
0.000 0.990 0.010
Q64.3 Other atresia and stenosis of urethra and bladder neck
0.000 0.990 0.010
Q90 Down's syndrome
0.000 0.990 0.009
Q63.9 Congenital malformation of kidney, unspecified
0.000 0.990 0.010
Q96 Turner's syndrome
0.000 0.990 0.009
S52.0 Fracture of upper end of ulna
0.010 0.990 0.000
Q31 Congenital malformations of larynx
0.000 0.990 0.009
Q39.8 Other congenital malformations of oesophagus
0.000 0.990 0.009
Q39.5 Congenital dilatation of oesophagus
0.000 0.990 0.009
Q39.3 Congenital stenosis and stricture of oesophagus
0.000 0.990 0.009
Q39.2 Congenital tracheooesophageal fistula without atresia
0.000 0.990 0.009
Q39.1 Atresia of oesophagus with tracheooesophageal fistula
0.000 0.990 0.009
Q39.0 Atresia of oesophagus without fistula
0.000 0.990 0.009
Q63.3 Hyperplastic and giant kidney
0.000 0.991 0.009
Q11.1 Other anophthalmos
0.000 0.991 0.009
Q64.9 Congenital malformation of urinary system, unspecified
0.000 0.991 0.009
Q64.8 Other specified congenital malformations of urinary system
0.000 0.991 0.009
Q64.6 Congenital diverticulum of bladder
0.000 0.991 0.009
Q64.5 Congenital absence of bladder and urethra
0.000 0.991 0.009
Q64.2 Congenital posterior urethral valves
0.000 0.991 0.009
Q64.1 Exstrophy of urinary bladder
0.000 0.991 0.009
Q64.0 Epispadias
0.000 0.991 0.009
Q50-Q56 Congenital malformations of genital organs
0.000 0.991 0.009
Q05 Spina bifida
0.000 0.991 0.009
Q03 Congenital hydrocephalus
0.000 0.991 0.009
Q07 Other congenital malformations of nervous system
0.000 0.991 0.009
Q14.1 Congenital malformation of retina
0.000 0.991 0.009
Q61 Cystic kidney disease
0.000 0.991 0.009
Q11.3 Macrophthalmos
0.000 0.991 0.009
Q11.2 Microphthalmos
0.000 0.991 0.009
Q11.0 Cystic eyeball
0.000 0.991 0.009
Q14.9 Congenital malformation of posterior segment of eye, unspecified
0.000 0.991 0.009
Q14.8 Other congenital malformations of posterior segment of eye
0.000 0.991 0.009
Q14.3 Congenital malformation of choroid
0.000 0.991 0.009
Q14.2 Congenital malformation of optic disk
0.000 0.991 0.009
Q14.0 Congenital malformation of vitreous humour
0.000 0.991 0.009
Q44.5 Other congenital malformations of bile ducts
0.000 0.991 0.009
Q43 Other congenital malformations of intestine
0.000 0.991 0.009
Q13.9 Congenital malformation of anterior segment of eye, unspecified
0.000 0.991 0.009
Q13.8 Other congenital malformations of anterior segment of eye
0.000 0.991 0.009
Q13.5 Blue sclera
0.000 0.991 0.009
Q13.4 Other congenital corneal malformations
0.000 0.991 0.009
Q13.3 Congenital corneal opacity
0.000 0.991 0.009
Q13.2 Other congenital malformations of iris
0.000 0.991 0.009
Q13.1 Absence of iris
0.000 0.991 0.009
Q13.0 Coloboma of iris
0.000 0.991 0.009
Q23.1 Congenital insufficiency of aortic valve
0.000 0.991 0.009
Q38.1 Ankyloglossia
0.000 0.991 0.009
Q62.5 Duplication of ureter
0.000 0.991 0.009
Q44.3 Congenital stenosis and stricture of bile ducts
0.000 0.991 0.009
Q44.2 Atresia of bile ducts
0.000 0.991 0.009
Q44.1 Other congenital malformations of gallbladder
0.000 0.991 0.009
Q44.0 Agenesis, aplasia and hypoplasia of gallbladder
0.000 0.991 0.009
T51.0 Ethanol
0.009 0.991 0.000
Q40.1 Congenital hiatus hernia
0.000 0.991 0.009
Q64.4 Malformation of urachus
0.000 0.991 0.009
Q16.5 Congenital malformation of inner ear
0.000 0.991 0.009
Q16.4 Other congenital malformations of middle ear
0.000 0.991 0.009
Q16.3 Congenital malformation of ear ossicles
0.000 0.991 0.009
Q16.2 Absence of eustachian tube
0.000 0.991 0.009
Q16.1 Congenital absence, atresia and stricture of auditory canal (external)
0.000 0.991 0.009
Q16.0 Congenital absence of (ear) auricle
0.000 0.991 0.009
H18.4 Corneal degeneration
0.009 0.991 0.000
S52 Fracture of forearm
0.009 0.991 0.000
Q38.6 Other congenital malformations of mouth
0.000 0.991 0.008
Q98.4 Klinefelter's syndrome, unspecified
0.000 0.991 0.008
Q41.9 Congenital absence, atresia and stenosis of small intestine, part unspecified
0.000 0.991 0.008
Q41.8 Congenital absence, atresia and stenosis of other specified parts of small intestine
0.000 0.991 0.008
Q41.2 Congenital absence, atresia and stenosis of ileum
0.000 0.991 0.008
Q41.1 Congenital absence, atresia and stenosis of jejunum
0.000 0.991 0.008
Q41.0 Congenital absence, atresia and stenosis of duodenum
0.000 0.991 0.008
Q42.9 Congenital absence, atresia and stenosis of large intestine, part unspecified
0.000 0.991 0.008
Q42.8 Congenital absence, atresia and stenosis of other parts of large intestine
0.000 0.991 0.008
Q42.3 Congenital absence, atresia and stenosis of anus without fistula
0.000 0.991 0.008
Q42.2 Congenital absence, atresia and stenosis of anus with fistula
0.000 0.991 0.008
Q42.1 Congenital absence, atresia and stenosis of rectum without fistula
0.000 0.991 0.008
Q42.0 Congenital absence, atresia and stenosis of rectum with fistula
0.000 0.991 0.008
Q16.9 Congenital malformation of ear causing impairment of hearing, unspecified
0.000 0.991 0.008
Q63.0 Accessory kidney
0.000 0.991 0.008
Q62.2 Congenital megaloureter
0.000 0.991 0.008
Q62.8 Other congenital malformations of ureter
0.000 0.991 0.008
Q38.8 Other congenital malformations of pharynx
0.000 0.992 0.008
Q45.3 Other congenital malformations of pancreas and pancreatic duct
0.000 0.992 0.008
Q62.7 Congenital vesico-uretero-renal reflux
0.000 0.992 0.008
Q62.6 Malposition of ureter
0.000 0.992 0.008
Q62.4 Agenesis of ureter
0.000 0.992 0.008
Q62.0 Congenital hydronephrosis
0.000 0.992 0.008
S52.2 Fracture of shaft of ulna
0.008 0.992 0.000
Q15.9 Congenital malformation of eye, unspecified
0.000 0.992 0.008
Q15.8 Other specified congenital malformations of eye
0.000 0.992 0.008
H18 Other disorders of cornea
0.008 0.992 0.000
H18.5 Hereditary corneal dystrophies
0.008 0.992 0.000
Q62.3 Other obstructive defects of renal pelvis and ureter
0.000 0.992 0.008
Q30.9 Congenital malformation of nose, unspecified
0.000 0.992 0.008
S52.6 Fracture of lower end of both ulna and radius
0.008 0.992 0.000
Q98.9 Sex chromosome abnormality, male phenotype, unspecified
0.000 0.992 0.008
Q98.8 Other specified sex chromosome abnormalities, male phenotype
0.000 0.992 0.008
Q98.7 Male with sex chromosome mosaicism
0.000 0.992 0.008
Q98.6 Male with structurally abnormal sex chromosome
0.000 0.992 0.008
Q98.5 Karyotype 47,XYY
0.000 0.992 0.008
Q98.3 Other male with 46,XX karyotype
0.000 0.992 0.008
Q98.2 Klinefelter's syndrome, male with 46,XX karyotype
0.000 0.992 0.008
Q98.1 Klinefelter's syndrome, male with more than two X chromosomes
0.000 0.992 0.008
Q98.0 Klinefelter's syndrome karyotype 47,XXY
0.000 0.992 0.008
Q10.7 Congenital malformation of orbit
0.000 0.992 0.008
Q10.6 Other congenital malformations of lachrymal apparatus
0.000 0.992 0.008
Q10.5 Congenital stenosis and stricture of lachrymal duct
0.000 0.992 0.008
Q10.4 Absence and agenesis of lachrymal apparatus
0.000 0.992 0.008
Q10.3 Other congenital malformations of eyelid
0.000 0.992 0.008
Q10.2 Congenital entropion
0.000 0.992 0.008
Q10.1 Congenital ectropion
0.000 0.992 0.008
S52.8 Fracture of other parts of forearm
0.008 0.992 0.000
S52.01 Fracture of upper end of ulna (open)
0.008 0.992 0.000
K35.0 Acute appendicitis with generalised peritonitis
0.008 0.992 0.000
Q18.9 Congenital malformation of face and neck, unspecified
0.000 0.992 0.008
Q18.8 Other specified congenital malformations of face and neck
0.000 0.992 0.008
Q18.7 Microcheilia
0.000 0.992 0.008
Q18.6 Macrocheilia
0.000 0.992 0.008
Q18.5 Microstomia
0.000 0.992 0.008
Q18.4 Macrostomia
0.000 0.992 0.008
Q18.3 Webbing of neck
0.000 0.992 0.008
Q18.2 Other branchial cleft malformations
0.000 0.992 0.008
Q45.2 Congenital pancreatic cyst
0.000 0.992 0.008
Q45.1 Annular pancreas
0.000 0.992 0.008
Q45.0 Agenesis, aplasia and hypoplasia of pancreas
0.000 0.992 0.008
Q12.9 Congenital lens malformation, unspecified
0.000 0.992 0.008
Q12.8 Other congenital lens malformations
0.000 0.992 0.008
Q12.4 Spherophakia
0.000 0.992 0.008
Q12.3 Congenital aphakia
0.000 0.992 0.008
Q12.2 Coloboma of lens
0.000 0.992 0.008
Q12.1 Congenital displaced lens
0.000 0.992 0.008
Q21.1 Atrial septal defect
0.000 0.992 0.008
Q38.4 Congenital malformations of salivary glands and ducts
0.000 0.992 0.008
Q38.3 Other congenital malformations of tongue
0.000 0.992 0.008
Q38.2 Macroglossia
0.000 0.992 0.008
H18.9 Disorder of cornea, unspecified
0.008 0.992 0.000
Q04.6 Congenital cerebral cysts
0.000 0.992 0.008
Q36.9 Cleft lip, unilateral
0.000 0.992 0.008
Q36.1 Cleft lip, medial
0.000 0.992 0.008
Q36.0 Cleft lip, bilateral
0.000 0.992 0.008
Q87 Other specified congenital malformation syndromes affecting multiple systems
0.000 0.992 0.008
S52.20 Fracture of shaft of ulna (closed)
0.008 0.992 0.000
Q91.7 Patau's syndrome, unspecified
0.000 0.992 0.008
Q91.6 Trisomy 13, translocation
0.000 0.992 0.008
Q91.5 Trisomy 13, mosaicism (mitotic nondisjunction)
0.000 0.992 0.008
Q91.4 Trisomy 13, meiotic nondisjunction
0.000 0.992 0.008
Q91.3 Edwards' syndrome, unspecified
0.000 0.992 0.008
Q91.2 Trisomy 18, translocation
0.000 0.992 0.008
Q91.1 Trisomy 18, mosaicism (mitotic nondisjunction)
0.000 0.992 0.008
Q91.0 Trisomy 18, meiotic nondisjunction
0.000 0.992 0.008
Q92.9 Trisomy and partial trisomy of autosomes, unspecified
0.000 0.992 0.008
Q92.8 Other specified trisomies and partial trisomies of autosomes
0.000 0.992 0.008
Q92.7 Triploidy and polyploidy
0.000 0.992 0.008
Q92.6 Extra marker chromosomes
0.000 0.992 0.008
Q92.5 Duplications with other complex rearrangements
0.000 0.992 0.008
Q92.4 Duplications seen only at prometaphase
0.000 0.992 0.008
Q92.3 Minor partial trisomy
0.000 0.992 0.008
Q92.2 Major partial trisomy
0.000 0.992 0.008
Q92.1 Whole chromosome trisomy, mosaicism (mitotic nondisjunction)
0.000 0.992 0.008
Q92.0 Whole chromosome trisomy, meiotic nondisjunction
0.000 0.992 0.008
Q93.9 Deletion from autosomes, unspecified
0.000 0.992 0.008
Q93.8 Other deletions from the autosomes
0.000 0.992 0.008
Q93.7 Deletions with other complex rearrangements
0.000 0.992 0.008
Q93.6 Deletions seen only at prometaphase
0.000 0.992 0.008
Q93.5 Other deletions of part of a chromosome
0.000 0.992 0.008
Q93.4 Deletion of short arm of chromosome 5
0.000 0.992 0.008
Q93.3 Deletion of short arm of chromosome 4
0.000 0.992 0.008
Q93.2 Chromosome replaced with ring or dicentric
0.000 0.992 0.008
Q93.1 Whole chromosome monosomy, mosaicism (mitotic nondisjunction)
0.000 0.992 0.008
Q93.0 Whole chromosome monosomy, meiotic nondisjunction
0.000 0.992 0.008
Q95.9 Balanced rearrangement and structural marker, unspecified
0.000 0.992 0.008
Q95.8 Other balanced rearrangements and structural markers
0.000 0.992 0.008
Q95.5 Individuals with autosomal fragile site
0.000 0.992 0.008
Q95.4 Individuals with marker heterochromatin
0.000 0.992 0.008
Q95.3 Balanced sex/autosomal rearrangement in abnormal individual
0.000 0.992 0.008
Q95.2 Balanced autosomal rearrangement in abnormal individual
0.000 0.992 0.008
Q95.1 Chromosome inversion in normal individual
0.000 0.992 0.008
Q95.0 Balanced translocation and insertion in normal individual
0.000 0.992 0.008
Q97.9 Sex chromosome abnormality, female phenotype, unspecified
0.000 0.992 0.008
Q97.8 Other specified sex chromosome abnormalities, female phenotype
0.000 0.992 0.008
Q97.3 Female with 46,XY karyotype
0.000 0.992 0.008
Q97.2 Mosaicism, lines with various numbers of X chromosomes
0.000 0.992 0.008
Q97.1 Female with more than three X chromosomes
0.000 0.992 0.008
Q97.0 Karyotype 47,XXX
0.000 0.992 0.008
Q32.4 Other congenital malformations of bronchus
0.000 0.992 0.008
Q32.3 Congenital stenosis of bronchus
0.000 0.992 0.008
Q32.2 Congenital bronchomalacia
0.000 0.992 0.008
Q32.1 Other congenital malformations of trachea
0.000 0.992 0.008
Q32.0 Congenital tracheomalacia
0.000 0.992 0.008
Q33.9 Congenital malformation of lung, unspecified
0.000 0.992 0.008
Q33.8 Other congenital malformations of lung
0.000 0.992 0.008
Q33.6 Hypoplasia and dysplasia of lung
0.000 0.992 0.008
Q33.5 Ectopic tissue in lung
0.000 0.992 0.008
Q33.4 Congenital bronchiectasis
0.000 0.992 0.008
Q33.3 Agenesis of lung
0.000 0.992 0.008
Q33.2 Sequestration of lung
0.000 0.992 0.008
Q33.1 Accessory lobe of lung
0.000 0.992 0.008
Q33.0 Congenital cystic lung
0.000 0.992 0.008
Q34.9 Congenital malformation of respiratory system, unspecified
0.000 0.992 0.008
Q34.8 Other specified congenital malformations of respiratory system
0.000 0.992 0.008
Q34.1 Congenital cyst of mediastinum
0.000 0.992 0.008
Q34.0 Anomaly of pleura
0.000 0.992 0.008
Q85 Phakomatoses, not elsewhere classified
0.000 0.992 0.008
Q37.8 Unspecified cleft palate with bilateral cleft lip
0.000 0.992 0.007
Q37.5 Cleft hard and soft palate with unilateral cleft lip
0.000 0.992 0.007
Q37.4 Cleft hard and soft palate with bilateral cleft lip
0.000 0.992 0.007
Q37.3 Cleft soft palate with unilateral cleft lip
0.000 0.992 0.007
Q37.2 Cleft soft palate with bilateral cleft lip
0.000 0.992 0.007

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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