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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

rs2115386
log Bayes Factor = <0.0001
Chromosome 19   position 7,196,565  (GRCh37) Explore rs2115386 on Ensembl!
Variant rs2115386 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
  
Q43.0 Meckel's diverticulum
0.000 0.964 0.036
Q43 Other congenital malformations of intestine
0.000 0.964 0.036
Q38.7 Pharyngeal pouch
0.000 0.967 0.033
Q38-Q45 Other congenital malformations of the digestive system
0.000 0.967 0.033
Q38 Other congenital malformations of tongue, mouth and pharynx
0.000 0.967 0.033
Q43.3 Congenital malformations of intestinal fixation
0.000 0.969 0.031
Q43.8 Other specified congenital malformations of intestine
0.000 0.969 0.031
Q44 Congenital malformations of gallbladder, bile ducts and liver
0.000 0.971 0.029
Q43.9 Congenital malformation of intestine, unspecified
0.000 0.973 0.027
Y86 Sequelae of other accidents
0.000 0.974 0.026
Q43.7 Persistent cloaca
0.000 0.974 0.026
Q43.6 Congenital fistula of rectum and anus
0.000 0.974 0.026
Q43.5 Ectopic anus
0.000 0.974 0.026
Q43.4 Duplication of intestine
0.000 0.974 0.026
Q43.2 Other congenital functional disorders of colon
0.000 0.974 0.026
Q44.6 Cystic disease of liver
0.000 0.974 0.026
Q45 Other congenital malformations of digestive system
0.000 0.974 0.026
Q38.1 Ankyloglossia
0.000 0.975 0.025
O80.9 Single spontaneous delivery, unspecified
0.000 0.976 0.024
Q42 Congenital absence, atresia and stenosis of large intestine
0.000 0.976 0.024
Q41 Congenital absence, atresia and stenosis of small intestine
0.000 0.976 0.024
Q38.8 Other congenital malformations of pharynx
0.000 0.976 0.023
Q38.4 Congenital malformations of salivary glands and ducts
0.000 0.976 0.023
Q38.3 Other congenital malformations of tongue
0.000 0.976 0.023
Q38.2 Macroglossia
0.000 0.976 0.023
Q38.0 Congenital malformations of lips, not elsewhere classified
0.000 0.976 0.023
Q40 Other congenital malformations of upper alimentary tract
0.000 0.977 0.023
Q38.6 Other congenital malformations of mouth
0.000 0.977 0.023
Q38.5 Congenital malformations of palate, not elsewhere classified
0.000 0.978 0.022
Q44.5 Other congenital malformations of bile ducts
0.000 0.978 0.022
Q44.4 Choledochal cyst
0.000 0.979 0.021
Q44.7 Other congenital malformations of liver
0.000 0.979 0.021
Q44.3 Congenital stenosis and stricture of bile ducts
0.000 0.979 0.021
Q44.2 Atresia of bile ducts
0.000 0.979 0.021
Q44.1 Other congenital malformations of gallbladder
0.000 0.979 0.021
Q44.0 Agenesis, aplasia and hypoplasia of gallbladder
0.000 0.979 0.021
Y85-Y89 Sequelae of external causes of morbidity and mortality
0.000 0.979 0.021
Q43.1 Hirschsprung's disease
0.000 0.979 0.020
Q45.8 Other specified congenital malformations of digestive system
0.000 0.979 0.020
O32.0 Maternal care for unstable lie
0.020 0.980 0.000
Q45.3 Other congenital malformations of pancreas and pancreatic duct
0.000 0.981 0.019
Q45.9 Congenital malformation of digestive system, unspecified
0.000 0.981 0.019
Q45.2 Congenital pancreatic cyst
0.000 0.981 0.019
Q45.1 Annular pancreas
0.000 0.981 0.019
Q45.0 Agenesis, aplasia and hypoplasia of pancreas
0.000 0.981 0.019
Y85 Sequelae of transport accidents
0.000 0.982 0.018
Y89 Sequelae of other external causes
0.000 0.982 0.018
Q40.1 Congenital hiatus hernia
0.000 0.982 0.018
Q39 Congenital malformations of oesophagus
0.000 0.982 0.017
Y85.9 Sequelae of other and unspecified transport accidents
0.000 0.982 0.018
Q41.9 Congenital absence, atresia and stenosis of small intestine, part unspecified
0.000 0.983 0.017
Q41.8 Congenital absence, atresia and stenosis of other specified parts of small intestine
0.000 0.983 0.017
Q41.2 Congenital absence, atresia and stenosis of ileum
0.000 0.983 0.017
Q41.1 Congenital absence, atresia and stenosis of jejunum
0.000 0.983 0.017
Q41.0 Congenital absence, atresia and stenosis of duodenum
0.000 0.983 0.017
Q42.9 Congenital absence, atresia and stenosis of large intestine, part unspecified
0.000 0.983 0.017
Q42.8 Congenital absence, atresia and stenosis of other parts of large intestine
0.000 0.983 0.017
Q42.3 Congenital absence, atresia and stenosis of anus without fistula
0.000 0.983 0.017
Q42.2 Congenital absence, atresia and stenosis of anus with fistula
0.000 0.983 0.017
Q42.1 Congenital absence, atresia and stenosis of rectum without fistula
0.000 0.983 0.017
Q42.0 Congenital absence, atresia and stenosis of rectum with fistula
0.000 0.983 0.017
Q40.2 Other specified congenital malformations of stomach
0.000 0.983 0.017
Q40.9 Congenital malformation of upper alimentary tract, unspecified
0.000 0.983 0.017
Q40.0 Congenital hypertrophic pyloric stenosis
0.000 0.983 0.017
Y88 Sequelae of surgical and medical care as external cause
0.000 0.983 0.017
Q40.3 Congenital malformation of stomach, unspecified
0.000 0.984 0.016
Y89.9 Sequelae of unspecified external cause
0.000 0.984 0.016
Y87 Sequelae of intentional self-harm, assault and events of undetermined intent
0.000 0.984 0.016
Q40.8 Other specified congenital malformations of upper alimentary tract
0.000 0.984 0.015
O32 Maternal care for known or suspected malpresentation of foetus
0.016 0.984 0.000
Y88.3 Sequelae of surgical and medical procedures as the cause of abnormal reaction of the patient or of later complication, without mention of misadventure at the time of the procedure
0.000 0.985 0.015
T92.9 Sequelae of unspecified injury of upper limb
0.000 0.985 0.015
O80 Single spontaneous delivery
0.000 0.985 0.015
T92 Sequelae of injuries of upper limb
0.000 0.986 0.014
O32.4 Maternal care for high head at term
0.014 0.986 0.000
T92.3 Sequelae of dislocation, sprain and strain of upper limb
0.000 0.986 0.014
O32.5 Maternal care for multiple gestation with malpresentation of one foetus or more
0.013 0.987 0.000
Y89.1 Sequelae of war operations
0.000 0.987 0.013
Y89.0 Sequelae of legal intervention
0.000 0.987 0.013
O80.0 Spontaneous vertex delivery
0.000 0.987 0.013
T92.6 Sequelae of crushing injury and traumatic amputation of upper limb
0.000 0.987 0.013
Q39.9 Congenital malformation of oesophagus, unspecified
0.000 0.987 0.013
Q39.8 Other congenital malformations of oesophagus
0.000 0.987 0.013
Q39.5 Congenital dilatation of oesophagus
0.000 0.987 0.013
Q39.3 Congenital stenosis and stricture of oesophagus
0.000 0.987 0.013
Q39.2 Congenital tracheooesophageal fistula without atresia
0.000 0.987 0.013
Q39.1 Atresia of oesophagus with tracheooesophageal fistula
0.000 0.987 0.013
Q39.0 Atresia of oesophagus without fistula
0.000 0.987 0.013
O32.6 Maternal care for compound presentation
0.013 0.987 0.000
T92.2 Sequelae of fracture at wrist and hand level
0.000 0.987 0.013
Y88.2 Sequelae of adverse incidents associated with medical devices in diagnostic and therapeutic use
0.000 0.988 0.012
Y87.1 Sequelae of assault
0.000 0.988 0.012
Y87.0 Sequelae of intentional self-harm
0.000 0.988 0.012
Y88.1 Sequelae of misadventures to patients during surgical and medical procedures
0.000 0.988 0.012
O32.8 Maternal care for other malpresentation of foetus
0.012 0.988 0.000
Y87.2 Sequelae of events of undetermined intent
0.000 0.989 0.011
O32.3 Maternal care for face, brow and chin presentation
0.011 0.989 0.000
O32.2 Maternal care for transverse and oblique lie
0.011 0.989 0.000
O32.1 Maternal care for breech presentation
0.011 0.989 0.000
O80.1 Spontaneous breech delivery
0.000 0.989 0.011
Q82.8 Other specified congenital malformations of skin
0.000 0.989 0.011
Q39.4 Oesophageal web
0.000 0.989 0.010
T92.8 Sequelae of other specified injuries of upper limb
0.000 0.989 0.011
O32.9 Maternal care for malpresentation of foetus, unspecified
0.010 0.990 0.000
T92.0 Sequelae of open wound of upper limb
0.000 0.990 0.010
T92.4 Sequelae of injury of nerve of upper limb
0.000 0.990 0.010
Q39.6 Diverticulum of oesophagus
0.000 0.990 0.010
Q82 Other congenital malformations of skin
0.000 0.990 0.010
H02.0 Entropion and trichiasis of eyelid
0.000 0.990 0.010
T92.1 Sequelae of fracture of arm
0.000 0.990 0.010
Q21.0 Ventricular septal defect
0.000 0.990 0.010
Y88.0 Sequelae of adverse effects caused by drugs, medicaments and biological substances in therapeutic use
0.000 0.990 0.010
Q80-Q89 Other congenital malformations
0.000 0.991 0.009
Q21 Congenital malformations of cardiac septa
0.000 0.991 0.009
Chapter XVII Congenital malformations, deformations and chromosomal abnormalities
0.000 0.991 0.009
Y85.0 Sequelae of motor-vehicle accident
0.000 0.991 0.009
O80.8 Other single spontaneous delivery
0.000 0.991 0.008
Q82.2 Mastocytosis
0.000 0.991 0.008
Q65-Q79 Congenital malformations and deformations of the musculoskeletal system
0.000 0.992 0.008
Q82.5 Congenital nonneoplastic naevus
0.000 0.992 0.008
Q67 Congenital musculoskeletal deformities of head, face, spine and chest
0.000 0.992 0.008
T90-T98 Sequelae of injuries, of poisoning and of other consequences of external causes
0.000 0.992 0.008
Q21.1 Atrial septal defect
0.000 0.992 0.008
Q67.5 Congenital deformity of spine
0.000 0.992 0.008
T92.5 Sequelae of injury of muscle and tendon of upper limb
0.000 0.992 0.008
Q82.9 Congenital malformation of skin, unspecified
0.000 0.992 0.007
Q82.4 Ectodermal dysplasia (anhidrotic)
0.000 0.992 0.007
Q82.3 Incontinentia pigmenti
0.000 0.992 0.007
Q82.1 Xeroderma pigmentosum
0.000 0.992 0.007
Q21.3 Tetralogy of Fallot
0.000 0.992 0.007
Q82.0 Hereditary lymphoedema
0.000 0.992 0.007
Q20-Q28 Congenital malformations of the circulatory system
0.000 0.992 0.007
Q76 Congenital malformations of spine and bony thorax
0.000 0.993 0.007
T98 Sequelae of other and unspecified effects of external causes
0.000 0.993 0.007
T94 Sequelae of injuries involving multiple and unspecified body regions
0.000 0.993 0.007
Q83 Congenital malformations of breast
0.000 0.993 0.007
Q87 Other specified congenital malformation syndromes affecting multiple systems
0.000 0.993 0.007
Q76.0 Spina bifida occulta
0.000 0.993 0.007
Q89 Other congenital malformations, not elsewhere classified
0.000 0.993 0.007
Q86 Congenital malformation syndromes due to known exogenous causes, not elsewhere classified
0.000 0.993 0.007
Q84 Other congenital malformations of integument
0.000 0.993 0.007
Q81 Epidermolysis bullosa
0.000 0.993 0.007
Q80 Congenital ichthyosis
0.000 0.993 0.007
S22.30 Fracture of rib (closed)
0.000 0.993 0.007
Q35-Q37 Cleft lip and cleft palate
0.000 0.993 0.007
Q21.8 Other congenital malformations of cardiac septa
0.000 0.993 0.007
Q21.4 Aortopulmonary septal defect
0.000 0.993 0.007
Q21.2 Atrioventricular septal defect
0.000 0.993 0.007
Z87.7 Personal history of congenital malformations, deformations and chromosomal abnormalities
0.000 0.993 0.007
Q21.9 Congenital malformation of cardiac septum, unspecified
0.000 0.993 0.007
T94.1 Sequelae of injuries, not specified by body region
0.000 0.993 0.007
Q90-Q99 Chromosomal abnormalities, not elsewhere classified
0.000 0.993 0.006
Q68 Other congenital musculoskeletal deformities
0.000 0.993 0.006
T95 Sequelae of burns, corrosions and frostbite
0.000 0.994 0.006
Q30-Q34 Congenital malformations of the respiratory system
0.000 0.994 0.006
T98.1 Sequelae of other and unspecified effects of external causes
0.000 0.994 0.006
Q77 Osteochondrodysplasia with defects of growth of tubular bones and spine
0.000 0.994 0.006
T90 Sequelae of injuries of head
0.000 0.994 0.006
Q67.4 Other congenital deformities of skull, face and jaw
0.000 0.994 0.006
T98.3 Sequelae of complications of surgical and medical care, not elsewhere classified
0.000 0.994 0.006
Q74 Other congenital malformations of limb(s)
0.000 0.994 0.006
Q67.6 Pectus excavatum
0.000 0.994 0.006
Q75 Other congenital malformations of skull and face bones
0.000 0.994 0.006
Q73 Reduction defects of unspecified limb
0.000 0.994 0.006
Q72 Reduction defects of lower limb
0.000 0.994 0.006
Q71 Reduction defects of upper limb
0.000 0.994 0.006
Q69 Polydactyly
0.000 0.994 0.006
Q22 Congenital malformations of pulmonary and tricuspid valves
0.000 0.994 0.006
Q83.1 Accessory breast
0.000 0.994 0.006
T90.5 Sequelae of intracranial injury
0.000 0.994 0.006
Q70 Syndactyly
0.000 0.994 0.006
Q25 Congenital malformations of great arteries
0.000 0.994 0.006
Q67.8 Other congenital deformities of chest
0.000 0.994 0.006
Q67.7 Pectus carinatum
0.000 0.994 0.006
Q67.3 Plagiocephaly
0.000 0.994 0.006
Q67.2 Dolichocephaly
0.000 0.994 0.006
Q67.1 Compression facies
0.000 0.994 0.006
Q67.0 Facial asymmetry
0.000 0.994 0.006
T96 Sequelae of poisoning by drugs, medicaments and biological substances
0.000 0.994 0.006
T95.2 Sequelae of burn, corrosion and frostbite of upper limb
0.000 0.994 0.006
Q76.5 Cervical rib
0.000 0.994 0.006
Q87.8 Other specified congenital malformation syndromes, not elsewhere classified
0.000 0.994 0.006
T94.0 Sequelae of injuries involving multiple body regions
0.000 0.994 0.006
Q66 Congenital deformities of feet
0.000 0.994 0.006
Q26 Congenital malformations of great veins
0.000 0.994 0.005
Q20 Congenital malformations of cardiac chambers and connexions
0.000 0.994 0.005
Q87.4 Marfan's syndrome
0.000 0.994 0.006
Q78 Other osteochondrodysplasias
0.000 0.994 0.005
T90.1 Sequelae of open wound of head
0.000 0.994 0.006
Q65 Congenital deformities of hip
0.000 0.994 0.005
Q85 Phakomatoses, not elsewhere classified
0.000 0.994 0.005
Q25.0 Patent ductus arteriosus
0.000 0.994 0.005
Q76.9 Congenital malformation of bony thorax, unspecified
0.000 0.994 0.005
Q76.8 Other congenital malformations of bony thorax
0.000 0.994 0.005
Q76.7 Congenital malformation of sternum
0.000 0.994 0.005
Q76.6 Other congenital malformations of ribs
0.000 0.994 0.005
Q76.3 Congenital scoliosis due to congenital bony malformation
0.000 0.994 0.005
Q76.2 Congenital spondylolisthesis
0.000 0.994 0.005
T98.2 Sequelae of certain early complications of trauma
0.000 0.994 0.005
T98.0 Sequelae of effects of foreign body entering through natural orifice
0.000 0.994 0.005
Q35 Cleft palate
0.000 0.994 0.005
Q76.1 Klippel-Feil syndrome
0.000 0.995 0.005
Q83.9 Congenital malformation of breast, unspecified
0.000 0.995 0.005
Q83.2 Absent nipple
0.000 0.995 0.005
Q83.0 Congenital absence of breast with absent nipple
0.000 0.995 0.005
Q87.5 Other congenital malformation syndromes with other skeletal changes
0.000 0.995 0.005
Q87.3 Congenital malformation syndromes involving early overgrowth
0.000 0.995 0.005
Q87.2 Congenital malformation syndromes predominantly involving limbs
0.000 0.995 0.005
Q83.8 Other congenital malformations of breast
0.000 0.995 0.005
Q22.5 Ebstein's anomaly
0.000 0.995 0.005
Q89.3 Situs inversus
0.000 0.995 0.005
Q68.8 Other specified congenital musculoskeletal deformities
0.000 0.995 0.005
Q89.9 Congenital malformation, unspecified
0.000 0.995 0.005
Q89.8 Other specified congenital malformations
0.000 0.995 0.005
Q89.7 Multiple congenital malformations, not elsewhere classified
0.000 0.995 0.005
Q89.4 Conjoined twins
0.000 0.995 0.005
Q89.1 Congenital malformations of adrenal gland
0.000 0.995 0.005
Q89.0 Congenital malformations of spleen
0.000 0.995 0.005
Q80.9 Congenital ichthyosis, unspecified
0.000 0.995 0.005
Q80.8 Other congenital ichthyosis
0.000 0.995 0.005
Q80.4 Harlequin foetus
0.000 0.995 0.005
Q80.3 Congenital bullous ichthyosiform erythroderma
0.000 0.995 0.005
Q80.2 Lamellar ichthyosis
0.000 0.995 0.005
Q80.1 X-linked ichthyosis
0.000 0.995 0.005
Q80.0 Ichthyosis vulgaris
0.000 0.995 0.005
Q81.9 Epidermolysis bullosa, unspecified
0.000 0.995 0.005
Q81.8 Other epidermolysis bullosa
0.000 0.995 0.005
Q81.2 Epidermolysis bullosa dystrophica
0.000 0.995 0.005
Q81.1 Epidermolysis bullosa letalis
0.000 0.995 0.005
Q81.0 Epidermolysis bullosa simplex
0.000 0.995 0.005
Q84.9 Congenital malformation of integument, unspecified
0.000 0.995 0.005
Q84.8 Other specified congenital malformations of integument
0.000 0.995 0.005
Q84.6 Other congenital malformations of nails
0.000 0.995 0.005
Q84.5 Enlarged and hypertrophic nails
0.000 0.995 0.005
Q84.4 Congenital leukonychia
0.000 0.995 0.005
Q84.3 Anonychia
0.000 0.995 0.005
Q84.2 Other congenital malformations of hair
0.000 0.995 0.005
Q84.1 Congenital morphological disturbances of hair, not elsewhere classified
0.000 0.995 0.005
Q84.0 Congenital alopecia
0.000 0.995 0.005
Q86.8 Other congenital malformation syndromes due to known exogenous causes
0.000 0.995 0.005
Q86.2 Dysmorphism due to warfarin
0.000 0.995 0.005
Q86.1 Foetal hydantoin syndrome
0.000 0.995 0.005
Q86.0 Foetal alcohol syndrome (dysmorphic)
0.000 0.995 0.005
T90.9 Sequelae of unspecified injury of head
0.000 0.995 0.005
Q36 Cleft lip
0.000 0.995 0.005
Q89.2 Congenital malformations of other endocrine glands
0.000 0.995 0.005
Q87.0 Congenital malformation syndromes predominantly affecting facial appearance
0.000 0.995 0.005
Q96 Turner's syndrome
0.000 0.995 0.005
Q37 Cleft palate with cleft lip
0.000 0.995 0.005
Q90 Down's syndrome
0.000 0.995 0.005
Q77.4 Achondroplasia
0.000 0.995 0.005
Q87.1 Congenital malformation syndromes predominantly associated with short stature
0.000 0.995 0.005
S22.3 Fracture of rib
0.000 0.995 0.005
O41.0 Oligohydramnios
0.000 0.995 0.005
Q97 Other sex chromosome abnormalities, female phenotype, not elsewhere classified
0.000 0.995 0.005
Q95 Balanced rearrangements and structural markers, not elsewhere classified
0.000 0.995 0.005
Q93 Monosomies and deletions from the autosomes, not elsewhere classified
0.000 0.995 0.005
Q92 Other trisomies and partial trisomies of the autosomes, not elsewhere classified
0.000 0.995 0.005
Q91 Edwards' syndrome and Patau's syndrome
0.000 0.995 0.005
Q68.5 Congenital bowing of long bones of leg, unspecified
0.000 0.995 0.005
Q68.4 Congenital bowing of tibia and fibula
0.000 0.995 0.005
Q68.3 Congenital bowing of femur
0.000 0.995 0.005
Q68.2 Congenital deformity of knee
0.000 0.995 0.005
Q68.1 Congenital deformity of hand
0.000 0.995 0.005
Q68.0 Congenital deformity of sternocleidomastoid muscle
0.000 0.995 0.005
T97 Sequelae of toxic effects of substances chiefly nonmedicinal as to source
0.000 0.995 0.005
Q74.2 Other congenital malformations of lower limb(s), including pelvic girdle
0.000 0.995 0.005
T95.9 Sequelae of unspecified burn, corrosion and frostbite
0.000 0.995 0.005
T95.8 Sequelae of other specified burn, corrosion and frostbite
0.000 0.995 0.005
T95.4 Sequelae of burn and corrosion classifiable only according to extent of body surface involved
0.000 0.995 0.005
T95.0 Sequelae of burn, corrosion and frostbite of head and neck
0.000 0.995 0.005
Q24 Other congenital malformations of heart
0.000 0.995 0.005
Q34 Other congenital malformations of respiratory system
0.000 0.995 0.005
Q33 Congenital malformations of lung
0.000 0.995 0.005
Q32 Congenital malformations of trachea and bronchus
0.000 0.995 0.005
T93.9 Sequelae of unspecified injury of lower limb
0.000 0.995 0.005
Q66.0 Talipes equinovarus
0.000 0.995 0.005
Q77.9 Osteochondrodysplasia with defects of growth of tubular bones and spine, unspecified
0.000 0.995 0.005
Q77.8 Other osteochondrodysplasia with defects of growth of tubular bones and spine
0.000 0.995 0.005
Q77.7 Spondyloepiphyseal dysplasia
0.000 0.995 0.005
Q77.6 Chondroectodermal dysplasia
0.000 0.995 0.005
Q77.5 Diastrophic dysplasia
0.000 0.995 0.005
Q77.3 Chondrodysplasia punctata
0.000 0.995 0.005
Q77.2 Short rib syndrome
0.000 0.995 0.005
Q77.1 Thanatophoric short stature
0.000 0.995 0.005
Q77.0 Achondrogenesis
0.000 0.995 0.005
T90.3 Sequelae of injury of cranial nerves
0.000 0.995 0.005
Q83.3 Accessory nipple
0.000 0.995 0.005
Q99 Other chromosome abnormalities, not elsewhere classified
0.000 0.995 0.005
Q25.7 Other congenital malformations of pulmonary artery
0.000 0.995 0.005
Q31 Congenital malformations of larynx
0.000 0.995 0.005
Q79 Congenital malformations of musculoskeletal system, not elsewhere classified
0.000 0.995 0.005
T90.0 Sequelae of superficial injury of head
0.000 0.995 0.005
Q74.9 Unspecified congenital malformation of limb(s)
0.000 0.995 0.005
Q74.8 Other specified congenital malformations of limb(s)
0.000 0.995 0.005
Q74.3 Arthrogryposis multiplex congenita
0.000 0.995 0.005
Q69.9 Polydactyly, unspecified
0.000 0.995 0.004
Q69.2 Accessory toe(s)
0.000 0.995 0.004
Q69.1 Accessory thumb(s)
0.000 0.995 0.004
Q69.0 Accessory finger(s)
0.000 0.995 0.004
Q71.9 Reduction defect of upper limb, unspecified
0.000 0.995 0.004
Q71.8 Other reduction defects of upper limb(s)
0.000 0.995 0.004
Q71.6 Lobster-claw hand
0.000 0.995 0.004
Q71.5 Longitudinal reduction defect of ulna
0.000 0.995 0.004
Q71.4 Longitudinal reduction defect of radius
0.000 0.995 0.004
Q71.3 Congenital absence of hand and finger(s)
0.000 0.995 0.004
Q71.2 Congenital absence of both forearm and hand
0.000 0.995 0.004
Q71.1 Congenital absence of upper arm and forearm with hand present
0.000 0.995 0.004
Q71.0 Congenital complete absence of upper limb(s)
0.000 0.995 0.004
Q72.9 Reduction defect of lower limb, unspecified
0.000 0.995 0.004
Q72.8 Other reduction defects of lower limb(s)
0.000 0.995 0.004
Q72.7 Split foot
0.000 0.995 0.004
Q72.6 Longitudinal reduction defect of fibula
0.000 0.995 0.004
Q72.5 Longitudinal reduction defect of tibia
0.000 0.995 0.004
Q72.4 Longitudinal reduction defect of femur
0.000 0.995 0.004
Q72.3 Congenital absence of foot and toe(s)
0.000 0.995 0.004
Q72.2 Congenital absence of both lower leg and foot
0.000 0.995 0.004
Q72.1 Congenital absence of thigh and lower leg with foot present
0.000 0.995 0.004
Q72.0 Congenital complete absence of lower limb(s)
0.000 0.995 0.004
Q73.8 Other reduction defects of unspecified limb(s)
0.000 0.995 0.004
Q73.1 Phocomelia, unspecified limb(s)
0.000 0.995 0.004
Q73.0 Congenital absence of unspecified limb(s)
0.000 0.995 0.004
Q75.9 Congenital malformation of skull and face bones, unspecified
0.000 0.995 0.004
Q75.8 Other specified congenital malformations of skull and face bones
0.000 0.995 0.004
Q75.5 Oculomandibular dysostosis
0.000 0.995 0.004
Q75.4 Mandibulofacial dysostosis
0.000 0.995 0.004
Q75.3 Macrocephaly
0.000 0.995 0.004
Q75.2 Hypertelorism
0.000 0.995 0.004
Q75.1 Craniofacial dysostosis
0.000 0.995 0.004
Q75.0 Craniosynostosis
0.000 0.995 0.004
Q30 Congenital malformations of nose
0.000 0.995 0.004
Q22.9 Congenital malformation of tricuspid valve, unspecified
0.000 0.995 0.004
Q22.8 Other congenital malformations of tricuspid valve
0.000 0.995 0.004
Q22.6 Hypoplastic right heart syndrome
0.000 0.995 0.004
Q22.4 Congenital tricuspid stenosis
0.000 0.995 0.004
Q22.3 Other congenital malformations of pulmonary valve
0.000 0.995 0.004
Q22.2 Congenital pulmonary valve insufficiency
0.000 0.995 0.004
Q22.0 Pulmonary valve atresia
0.000 0.995 0.004
Q70.9 Syndactyly, unspecified
0.000 0.995 0.004
Q70.4 Polysyndactyly
0.000 0.995 0.004
Q70.2 Fused toes
0.000 0.995 0.004
Q70.1 Webbed fingers
0.000 0.995 0.004
Q70.0 Fused fingers
0.000 0.995 0.004
Q25.9 Congenital malformation of great arteries, unspecified
0.000 0.995 0.004
Q25.8 Other congenital malformations of great arteries
0.000 0.995 0.004
Q25.5 Atresia of pulmonary artery
0.000 0.995 0.004
Q25.3 Stenosis of aorta
0.000 0.995 0.004
Q25.2 Atresia of aorta
0.000 0.995 0.004
Q74.1 Congenital malformation of knee
0.000 0.995 0.004
Q74.0 Other congenital malformations of upper limb(s), including shoulder girdle
0.000 0.995 0.004
Q98 Other sex chromosome abnormalities, male phenotype, not elsewhere classified
0.000 0.995 0.004
T95.3 Sequelae of burn, corrosion and frostbite of lower limb
0.000 0.995 0.004
Q35.9 Cleft palate, unspecified
0.000 0.995 0.004
Q66.9 Congenital deformity of feet, unspecified
0.000 0.995 0.004
Q25.1 Coarctation of aorta
0.000 0.995 0.004
Q70.3 Webbed toes
0.000 0.995 0.004
T91 Sequelae of injuries of neck and trunk
0.000 0.996 0.004
T95.1 Sequelae of burn, corrosion and frostbite of trunk
0.000 0.996 0.004
Q00-Q07 Congenital malformations of the nervous system
0.000 0.996 0.004
Q66.2 Metatarsus varus
0.000 0.996 0.004
Q60-Q64 Congenital malformations of the urinary system
0.000 0.996 0.004
T93 Sequelae of injuries of lower limb
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
Q76.4 Other congenital malformations of spine, not associated with scoliosis
0.000 0.996 0.004
Q20.9 Congenital malformation of cardiac chambers and connexions, unspecified
0.000 0.996 0.004
Q20.8 Other congenital malformations of cardiac chambers and connexions
0.000 0.996 0.004
Q20.6 Isomerism of atrial appendages
0.000 0.996 0.004
Q20.5 Discordant atrioventricular connexion
0.000 0.996 0.004
Q20.4 Double inlet ventricle
0.000 0.996 0.004
Q20.3 Discordant ventriculoarterial connexion
0.000 0.996 0.004
Q20.2 Double outlet left ventricle
0.000 0.996 0.004
Q20.1 Double outlet right ventricle
0.000 0.996 0.004
Q20.0 Common arterial trunk
0.000 0.996 0.004
Q26.9 Congenital malformation of great vein, unspecified
0.000 0.996 0.004
Q26.8 Other congenital malformations of great veins
0.000 0.996 0.004
Q26.6 Portal vein-hepatic artery fistula
0.000 0.996 0.004
Q26.5 Anomalous portal venous connexion
0.000 0.996 0.004
Q26.4 Anomalous pulmonary venous connexion, unspecified
0.000 0.996 0.004
Q26.3 Partial anomalous pulmonary venous connexion
0.000 0.996 0.004
Q26.2 Total anomalous pulmonary venous connexion
0.000 0.996 0.004
Q26.1 Persistent left superior vena cava
0.000 0.996 0.004
Q26.0 Congenital stenosis of vena cava
0.000 0.996 0.004
Q85.9 Phakomatosis, unspecified
0.000 0.996 0.004
Q25.4 Other congenital malformations of aorta
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
Q78.2 Osteopetrosis
0.000 0.996 0.004
Q78.1 Polyostotic fibrous dysplasia
0.000 0.996 0.004
Q22.1 Congenital pulmonary valve stenosis
0.000 0.996 0.004
O80-O84 Delivery
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
Q65.2 Congenital dislocation of hip, unspecified
0.000 0.996 0.004
Q65.0 Congenital dislocation of hip, unilateral
0.000 0.996 0.004
Q66.7 Pes cavus
0.000 0.996 0.004
Q85.1 Tuberous sclerosis
0.000 0.996 0.004
Q35.8 (Cleft palate, unspecified, bilateral)
0.000 0.996 0.004
Q35.7 Cleft uvula
0.000 0.996 0.004
Q35.6 Cleft palate, medial
0.000 0.996 0.004
Q35.5 Cleft hard palate with cleft soft palate
0.000 0.996 0.004
Q35.4 (Cleft hard palate with cleft soft palate, bilateral)
0.000 0.996 0.004
Q35.3 Cleft soft palate
0.000 0.996 0.004
Q35.2 (Cleft soft palate, bilateral)
0.000 0.996 0.004
Q35.1 Cleft hard palate
0.000 0.996 0.004
Q35.0 (Cleft hard palate, bilateral)
0.000 0.996 0.004
N88.2 Stricture and stenosis of cervix uteri
0.000 0.996 0.004
T90.8 Sequelae of other specified injuries of head
0.000 0.996 0.004
T93.1 Sequelae of fracture of femur
0.000 0.996 0.004
N05.7 Diffuse crescentic glomerulonephritis
0.000 0.996 0.004
Q24.0 Dextrocardia
0.000 0.996 0.004
Q66.3 Other congenital varus deformities of feet
0.000 0.996 0.004
Q23 Congenital malformations of aortic and mitral valves
0.000 0.996 0.004
N05 Unspecified nephritic syndrome
0.000 0.996 0.004
Q96.9 Turner's syndrome, unspecified
0.000 0.996 0.004
Q36.9 Cleft lip, unilateral
0.000 0.996 0.004
Q36.1 Cleft lip, medial
0.000 0.996 0.004
Q36.0 Cleft lip, bilateral
0.000 0.996 0.004
Q65.1 Congenital dislocation of hip, bilateral
0.000 0.996 0.004
T91.2 Sequelae of other fracture of thorax and pelvis
0.000 0.996 0.004
N05.5 Diffuse mesangiocapillary glomerulonephritis
0.000 0.996 0.004
N05.2 Diffuse membranous glomerulonephritis
0.000 0.996 0.004
Q90.9 Down's syndrome, unspecified
0.000 0.996 0.004
Q66.8 Other congenital deformities of feet
0.000 0.996 0.004
N05.8 Other
0.000 0.996 0.004
Q65.8 Other congenital deformities of hip
0.000 0.996 0.004
Q37.8 Unspecified cleft palate with bilateral cleft lip
0.000 0.996 0.004
Q37.5 Cleft hard and soft palate with unilateral cleft lip
0.000 0.996 0.004
Q37.4 Cleft hard and soft palate with bilateral cleft lip
0.000 0.996 0.004
Q37.3 Cleft soft palate with unilateral cleft lip
0.000 0.996 0.004
Q37.2 Cleft soft palate with bilateral cleft lip
0.000 0.996 0.004
Q37.1 Cleft hard palate with unilateral cleft lip
0.000 0.996 0.004
Q37.0 Cleft hard palate with bilateral cleft lip
0.000 0.996 0.004
Q90.2 Trisomy 21, translocation
0.000 0.996 0.004
Q90.1 Trisomy 21, mosaicism (mitotic nondisjunction)
0.000 0.996 0.004
Q90.0 Trisomy 21, meiotic nondisjunction
0.000 0.996 0.004
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
Q10-Q18 Congenital malformations of eye, ear, face and neck
0.000 0.996 0.004
S22.31 Fracture of rib (open)
0.000 0.996 0.004
Q91.7 Patau's syndrome, unspecified
0.000 0.996 0.004
Q91.6 Trisomy 13, translocation
0.000 0.996 0.004
Q91.5 Trisomy 13, mosaicism (mitotic nondisjunction)
0.000 0.996 0.004
Q91.4 Trisomy 13, meiotic nondisjunction
0.000 0.996 0.004
Q91.3 Edwards' syndrome, unspecified
0.000 0.996 0.004
Q91.2 Trisomy 18, translocation
0.000 0.996 0.004
Q91.1 Trisomy 18, mosaicism (mitotic nondisjunction)
0.000 0.996 0.004
Q91.0 Trisomy 18, meiotic nondisjunction
0.000 0.996 0.004
Q92.9 Trisomy and partial trisomy of autosomes, unspecified
0.000 0.996 0.004
Q92.8 Other specified trisomies and partial trisomies of autosomes
0.000 0.996 0.004
Q92.7 Triploidy and polyploidy
0.000 0.996 0.004
Q92.6 Extra marker chromosomes
0.000 0.996 0.004
Q92.5 Duplications with other complex rearrangements
0.000 0.996 0.004
Q92.4 Duplications seen only at prometaphase
0.000 0.996 0.004
Q92.3 Minor partial trisomy
0.000 0.996 0.004
Q92.2 Major partial trisomy
0.000 0.996 0.004
Q92.1 Whole chromosome trisomy, mosaicism (mitotic nondisjunction)
0.000 0.996 0.004
Q92.0 Whole chromosome trisomy, meiotic nondisjunction
0.000 0.996 0.004
Q93.9 Deletion from autosomes, unspecified
0.000 0.996 0.004
Q93.8 Other deletions from the autosomes
0.000 0.996 0.004
Q93.7 Deletions with other complex rearrangements
0.000 0.996 0.004
Q93.6 Deletions seen only at prometaphase
0.000 0.996 0.004
Q93.5 Other deletions of part of a chromosome
0.000 0.996 0.004
Q93.4 Deletion of short arm of chromosome 5
0.000 0.996 0.004
Q93.3 Deletion of short arm of chromosome 4
0.000 0.996 0.004
Q93.2 Chromosome replaced with ring or dicentric
0.000 0.996 0.004
Q93.1 Whole chromosome monosomy, mosaicism (mitotic nondisjunction)
0.000 0.996 0.004
Q93.0 Whole chromosome monosomy, meiotic nondisjunction
0.000 0.996 0.004
Q95.9 Balanced rearrangement and structural marker, unspecified
0.000 0.996 0.004
Q95.8 Other balanced rearrangements and structural markers
0.000 0.996 0.004
Q95.5 Individuals with autosomal fragile site
0.000 0.996 0.004
Q95.4 Individuals with marker heterochromatin
0.000 0.996 0.004
Q95.3 Balanced sex/autosomal rearrangement in abnormal individual
0.000 0.996 0.004
Q95.2 Balanced autosomal rearrangement in abnormal individual
0.000 0.996 0.004
Q95.1 Chromosome inversion in normal individual
0.000 0.996 0.004
Q95.0 Balanced translocation and insertion in normal individual
0.000 0.996 0.004
Q97.9 Sex chromosome abnormality, female phenotype, unspecified
0.000 0.996 0.004
Q97.8 Other specified sex chromosome abnormalities, female phenotype
0.000 0.996 0.004
Q97.3 Female with 46,XY karyotype
0.000 0.996 0.004
Q97.2 Mosaicism, lines with various numbers of X chromosomes
0.000 0.996 0.004
Q97.1 Female with more than three X chromosomes
0.000 0.996 0.004
Q97.0 Karyotype 47,XXX
0.000 0.996 0.004
T90.4 Sequelae of injury of eye and orbit
0.000 0.996 0.004
J32.0 Chronic maxillary sinusitis
0.000 0.996 0.004
R44.3 Hallucinations, unspecified
0.004 0.996 0.000
Q24.3 Pulmonary infundibular stenosis
0.000 0.996 0.004
Q24.2 Cor triatriatum
0.000 0.996 0.004
Q24.1 Levocardia
0.000 0.996 0.004

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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