TreeWAS
Search
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
About
Frequently Asked Questions
Citation
Download association data
for this variant in csv format
Share this page

Variant-specific associations

rs7822058
log Bayes Factor = <0.0001
Chromosome 8   position 53,684,861  (GRCh37) Explore rs7822058 on Ensembl!
Variant rs7822058 is listed in the   GWAS Catalog   ⇪

Hospitalization Episode Statistics (HES)

Self-Reported Statistics (SRS)
Hierarchical visualisation How to interpret this figure?
Associations at terminal nodes are shown if p(effect) ≥
Click here to show this figure without filtering.
Click on a node to zoom (except terminal nodes).
Download this figure in format
Results table
Term Risk
posterior probability
 No effect
posterior probability
 Protective
posterior probability
  
Q21.1 Atrial septal defect
0.000 0.925 0.075
Q21 Congenital malformations of cardiac septa
0.000 0.932 0.068
Q20-Q28 Congenital malformations of the circulatory system
0.000 0.941 0.059
Q21.3 Tetralogy of Fallot
0.000 0.942 0.058
Q23 Congenital malformations of aortic and mitral valves
0.000 0.947 0.053
Q28 Other congenital malformations of circulatory system
0.000 0.949 0.051
Q21.4 Aortopulmonary septal defect
0.000 0.951 0.049
Q21.2 Atrioventricular septal defect
0.000 0.951 0.049
Q21.0 Ventricular septal defect
0.000 0.951 0.048
Q23.1 Congenital insufficiency of aortic valve
0.000 0.952 0.048
Q21.9 Congenital malformation of cardiac septum, unspecified
0.000 0.952 0.048
Q28.2 Arteriovenous malformation of cerebral vessels
0.000 0.953 0.047
Q21.8 Other congenital malformations of cardiac septa
0.000 0.953 0.047
Q26 Congenital malformations of great veins
0.000 0.955 0.045
Q24 Other congenital malformations of heart
0.000 0.956 0.044
Q25 Congenital malformations of great arteries
0.000 0.957 0.043
Q20 Congenital malformations of cardiac chambers and connexions
0.000 0.958 0.042
Q23.0 Congenital stenosis of aortic valve
0.000 0.958 0.042
Q22 Congenital malformations of pulmonary and tricuspid valves
0.000 0.958 0.041
Q27 Other congenital malformations of peripheral vascular system
0.000 0.960 0.040
Q23.9 Congenital malformation of aortic and mitral valves, unspecified
0.000 0.962 0.038
Q23.8 Other congenital malformations of aortic and mitral valves
0.000 0.962 0.038
Q23.4 Hypoplastic left heart syndrome
0.000 0.962 0.038
Q23.2 Congenital mitral stenosis
0.000 0.962 0.038
Q28.9 Congenital malformation of circulatory system, unspecified
0.000 0.963 0.037
Q28.8 Other specified congenital malformations of circulatory system
0.000 0.963 0.037
Q28.1 Other malformations of precerebral vessels
0.000 0.963 0.037
Q23.3 Congenital mitral insufficiency
0.000 0.964 0.036
Q28.0 Arteriovenous malformation of precerebral vessels
0.000 0.964 0.035
Q28.3 Other malformations of cerebral vessels
0.000 0.965 0.035
Q26.4 Anomalous pulmonary venous connexion, unspecified
0.000 0.965 0.035
Q25.4 Other congenital malformations of aorta
0.000 0.965 0.035
Q24.5 Malformation of coronary vessels
0.000 0.967 0.033
Q25.0 Patent ductus arteriosus
0.000 0.967 0.033
Q26.9 Congenital malformation of great vein, unspecified
0.000 0.967 0.032
Q26.8 Other congenital malformations of great veins
0.000 0.967 0.032
Q26.6 Portal vein-hepatic artery fistula
0.000 0.967 0.032
Q26.5 Anomalous portal venous connexion
0.000 0.967 0.032
Q26.3 Partial anomalous pulmonary venous connexion
0.000 0.967 0.032
Q26.2 Total anomalous pulmonary venous connexion
0.000 0.967 0.032
Q26.1 Persistent left superior vena cava
0.000 0.967 0.032
Q26.0 Congenital stenosis of vena cava
0.000 0.967 0.032
Q24.8 Other specified congenital malformations of heart
0.000 0.968 0.032
Q24.4 Congenital subaortic stenosis
0.000 0.968 0.032
Q24.9 Congenital malformation of the heart, unspecified
0.000 0.968 0.032
Q24.3 Pulmonary infundibular stenosis
0.000 0.968 0.031
Q24.2 Cor triatriatum
0.000 0.968 0.031
Q24.1 Levocardia
0.000 0.968 0.031
Q25.9 Congenital malformation of great arteries, unspecified
0.000 0.969 0.031
Q25.8 Other congenital malformations of great arteries
0.000 0.969 0.031
Q25.5 Atresia of pulmonary artery
0.000 0.969 0.031
Q25.2 Atresia of aorta
0.000 0.969 0.031
Q22.1 Congenital pulmonary valve stenosis
0.000 0.969 0.031
Q25.7 Other congenital malformations of pulmonary artery
0.000 0.969 0.031
Q24.6 Congenital heart block
0.000 0.969 0.031
Q24.0 Dextrocardia
0.000 0.969 0.031
Q27.3 Peripheral arteriovenous malformation
0.000 0.969 0.031
Q20.9 Congenital malformation of cardiac chambers and connexions, unspecified
0.000 0.969 0.030
Q20.8 Other congenital malformations of cardiac chambers and connexions
0.000 0.969 0.030
Q20.6 Isomerism of atrial appendages
0.000 0.969 0.030
Q20.5 Discordant atrioventricular connexion
0.000 0.969 0.030
Q20.4 Double inlet ventricle
0.000 0.969 0.030
Q20.3 Discordant ventriculoarterial connexion
0.000 0.969 0.030
Q20.2 Double outlet left ventricle
0.000 0.969 0.030
Q20.1 Double outlet right ventricle
0.000 0.969 0.030
Q20.0 Common arterial trunk
0.000 0.969 0.030
Q25.6 Stenosis of pulmonary artery
0.000 0.969 0.030
Q25.1 Coarctation of aorta
0.000 0.970 0.030
Q22.9 Congenital malformation of tricuspid valve, unspecified
0.000 0.970 0.030
Q22.8 Other congenital malformations of tricuspid valve
0.000 0.970 0.030
Q22.6 Hypoplastic right heart syndrome
0.000 0.970 0.030
Q22.4 Congenital tricuspid stenosis
0.000 0.970 0.030
Q22.3 Other congenital malformations of pulmonary valve
0.000 0.970 0.030
Q22.2 Congenital pulmonary valve insufficiency
0.000 0.970 0.030
Q22.0 Pulmonary valve atresia
0.000 0.970 0.030
Q25.3 Stenosis of aorta
0.000 0.971 0.029
Q27.4 Congenital phlebectasia
0.000 0.971 0.029
Q27.2 Other congenital malformations of renal artery
0.000 0.971 0.029
Q27.0 Congenital absence and hypoplasia of umbilical artery
0.000 0.971 0.029
Q27.8 Other specified congenital malformations of peripheral vascular system
0.000 0.971 0.029
Q27.1 Congenital renal artery stenosis
0.000 0.971 0.028
Q22.5 Ebstein's anomaly
0.000 0.972 0.028
Q27.9 Congenital malformation of peripheral vascular system, unspecified
0.000 0.974 0.025
D41.4 Bladder
0.013 0.987 0.000
Chapter XVII Congenital malformations, deformations and chromosomal abnormalities
0.000 0.987 0.013
Q10-Q18 Congenital malformations of eye, ear, face and neck
0.000 0.988 0.012
Q38-Q45 Other congenital malformations of the digestive system
0.000 0.989 0.011
D41 Neoplasm of uncertain or unknown behaviour of urinary organs
0.010 0.990 0.000
Q90-Q99 Chromosomal abnormalities, not elsewhere classified
0.000 0.990 0.010
Q18 Other congenital malformations of face and neck
0.000 0.990 0.010
Q43 Other congenital malformations of intestine
0.000 0.990 0.010
Q15 Other congenital malformations of eye
0.000 0.990 0.009
Q14 Congenital malformations of posterior segment of eye
0.000 0.991 0.009
D41.0 Kidney
0.009 0.991 0.000
Q30-Q34 Congenital malformations of the respiratory system
0.000 0.991 0.009
Q18.0 Sinus, fistula and cyst of branchial cleft
0.000 0.991 0.009
Q12 Congenital lens malformations
0.000 0.991 0.009
Q35-Q37 Cleft lip and cleft palate
0.000 0.991 0.009
Q10 Congenital malformations of eyelid, lachrymal apparatus and orbit
0.000 0.991 0.009
Q80-Q89 Other congenital malformations
0.000 0.991 0.009
Q16 Congenital malformations of ear causing impairment of hearing
0.000 0.991 0.009
Q13 Congenital malformations of anterior segment of eye
0.000 0.991 0.008
Q11 Anophthalmos, microphthalmos and macrophthalmos
0.000 0.991 0.008
C44.0 Skin of lip
0.000 0.991 0.009
Q38 Other congenital malformations of tongue, mouth and pharynx
0.000 0.992 0.008
Q40 Other congenital malformations of upper alimentary tract
0.000 0.992 0.008
Q90 Down's syndrome
0.000 0.992 0.008
D41.1 Renal pelvis
0.008 0.992 0.000
Q17 Other congenital malformations of ear
0.000 0.992 0.008
Q00-Q07 Congenital malformations of the nervous system
0.000 0.992 0.008
Q43.3 Congenital malformations of intestinal fixation
0.000 0.992 0.008
Q45 Other congenital malformations of digestive system
0.000 0.992 0.008
D41.2 Ureter
0.008 0.992 0.000
Q85 Phakomatoses, not elsewhere classified
0.000 0.992 0.008
C44.1 Skin of eyelid, including canthus
0.000 0.992 0.008
Q15.0 Congenital glaucoma
0.000 0.992 0.008
Q42 Congenital absence, atresia and stenosis of large intestine
0.000 0.992 0.008
Q41 Congenital absence, atresia and stenosis of small intestine
0.000 0.992 0.008
M13.97 Arthritis, unspecified (Ankle and foot)
0.000 0.992 0.008
Q43.8 Other specified congenital malformations of intestine
0.000 0.992 0.008
Q96 Turner's syndrome
0.000 0.992 0.008
Q43.0 Meckel's diverticulum
0.000 0.992 0.008
Q14.1 Congenital malformation of retina
0.000 0.992 0.008
D41.9 Urinary organ, unspecified
0.008 0.992 0.000
D41.7 Other urinary organs
0.008 0.992 0.000
D41.3 Urethra
0.008 0.992 0.000
Q99 Other chromosome abnormalities, not elsewhere classified
0.000 0.992 0.007
Q97 Other sex chromosome abnormalities, female phenotype, not elsewhere classified
0.000 0.992 0.007
Q95 Balanced rearrangements and structural markers, not elsewhere classified
0.000 0.992 0.007
Q93 Monosomies and deletions from the autosomes, not elsewhere classified
0.000 0.992 0.007
Q92 Other trisomies and partial trisomies of the autosomes, not elsewhere classified
0.000 0.992 0.007
Q91 Edwards' syndrome and Patau's syndrome
0.000 0.992 0.007
Q98 Other sex chromosome abnormalities, male phenotype, not elsewhere classified
0.000 0.992 0.007
Q43.1 Hirschsprung's disease
0.000 0.992 0.007
Q44 Congenital malformations of gallbladder, bile ducts and liver
0.000 0.992 0.007
Q18.9 Congenital malformation of face and neck, unspecified
0.000 0.993 0.007
Q18.8 Other specified congenital malformations of face and neck
0.000 0.993 0.007
Q18.7 Microcheilia
0.000 0.993 0.007
Q18.6 Macrocheilia
0.000 0.993 0.007
Q18.5 Microstomia
0.000 0.993 0.007
Q18.4 Macrostomia
0.000 0.993 0.007
Q18.3 Webbing of neck
0.000 0.993 0.007
Q18.2 Other branchial cleft malformations
0.000 0.993 0.007
Q12.0 Congenital cataract
0.000 0.993 0.007
Q43.7 Persistent cloaca
0.000 0.993 0.007
Q43.6 Congenital fistula of rectum and anus
0.000 0.993 0.007
Q43.5 Ectopic anus
0.000 0.993 0.007
Q43.4 Duplication of intestine
0.000 0.993 0.007
Q43.2 Other congenital functional disorders of colon
0.000 0.993 0.007
Q85.0 Neurofibromatosis (nonmalignant)
0.000 0.993 0.007
Q15.9 Congenital malformation of eye, unspecified
0.000 0.993 0.007
Q15.8 Other specified congenital malformations of eye
0.000 0.993 0.007
Q90.9 Down's syndrome, unspecified
0.000 0.993 0.007
Q39 Congenital malformations of oesophagus
0.000 0.993 0.007
Q14.9 Congenital malformation of posterior segment of eye, unspecified
0.000 0.993 0.007
Q14.8 Other congenital malformations of posterior segment of eye
0.000 0.993 0.007
Q14.3 Congenital malformation of choroid
0.000 0.993 0.007
Q14.2 Congenital malformation of optic disk
0.000 0.993 0.007
Q14.0 Congenital malformation of vitreous humour
0.000 0.993 0.007
Q10.0 Congenital ptosis
0.000 0.993 0.007
Q37 Cleft palate with cleft lip
0.000 0.993 0.007
Q34 Other congenital malformations of respiratory system
0.000 0.993 0.007
Q33 Congenital malformations of lung
0.000 0.993 0.007
Q32 Congenital malformations of trachea and bronchus
0.000 0.993 0.007
Q31 Congenital malformations of larynx
0.000 0.993 0.007
Q40.3 Congenital malformation of stomach, unspecified
0.000 0.993 0.007
Q38.8 Other congenital malformations of pharynx
0.000 0.993 0.007
Q38.0 Congenital malformations of lips, not elsewhere classified
0.000 0.993 0.007
Q12.9 Congenital lens malformation, unspecified
0.000 0.993 0.007
Q12.8 Other congenital lens malformations
0.000 0.993 0.007
Q12.4 Spherophakia
0.000 0.993 0.007
Q12.3 Congenital aphakia
0.000 0.993 0.007
Q12.2 Coloboma of lens
0.000 0.993 0.007
Q12.1 Congenital displaced lens
0.000 0.993 0.007
Q30 Congenital malformations of nose
0.000 0.993 0.007
Q36 Cleft lip
0.000 0.993 0.007
Q80 Congenital ichthyosis
0.000 0.993 0.007
Q16.9 Congenital malformation of ear causing impairment of hearing, unspecified
0.000 0.993 0.006
Q83 Congenital malformations of breast
0.000 0.993 0.007
Q43.9 Congenital malformation of intestine, unspecified
0.000 0.993 0.007
Q10.7 Congenital malformation of orbit
0.000 0.993 0.006
Q10.6 Other congenital malformations of lachrymal apparatus
0.000 0.993 0.006
Q10.5 Congenital stenosis and stricture of lachrymal duct
0.000 0.993 0.006
Q10.4 Absence and agenesis of lachrymal apparatus
0.000 0.993 0.006
Q10.3 Other congenital malformations of eyelid
0.000 0.993 0.006
Q10.2 Congenital entropion
0.000 0.993 0.006
Q10.1 Congenital ectropion
0.000 0.993 0.006
Q86 Congenital malformation syndromes due to known exogenous causes, not elsewhere classified
0.000 0.993 0.006
Q84 Other congenital malformations of integument
0.000 0.993 0.006
Q81 Epidermolysis bullosa
0.000 0.993 0.006
C34.9 Bronchus or lung, unspecified
0.000 0.993 0.007
Q38.6 Other congenital malformations of mouth
0.000 0.993 0.006
Q16.5 Congenital malformation of inner ear
0.000 0.993 0.006
Q16.4 Other congenital malformations of middle ear
0.000 0.993 0.006
Q16.3 Congenital malformation of ear ossicles
0.000 0.993 0.006
Q16.2 Absence of eustachian tube
0.000 0.993 0.006
Q16.1 Congenital absence, atresia and stricture of auditory canal (external)
0.000 0.993 0.006
Q16.0 Congenital absence of (ear) auricle
0.000 0.993 0.006
Q45.8 Other specified congenital malformations of digestive system
0.000 0.993 0.006
Q85.8 Other phakomatoses, not elsewhere classified
0.000 0.993 0.006
Q04 Other congenital malformations of brain
0.000 0.993 0.006
Q13.9 Congenital malformation of anterior segment of eye, unspecified
0.000 0.993 0.006
Q13.8 Other congenital malformations of anterior segment of eye
0.000 0.993 0.006
Q13.5 Blue sclera
0.000 0.993 0.006
Q13.4 Other congenital corneal malformations
0.000 0.993 0.006
Q13.3 Congenital corneal opacity
0.000 0.993 0.006
Q13.2 Other congenital malformations of iris
0.000 0.993 0.006
Q13.1 Absence of iris
0.000 0.993 0.006
Q13.0 Coloboma of iris
0.000 0.993 0.006
Q18.1 Preauricular sinus and cyst
0.000 0.994 0.006
Q11.3 Macrophthalmos
0.000 0.994 0.006
Q11.2 Microphthalmos
0.000 0.994 0.006
Q11.0 Cystic eyeball
0.000 0.994 0.006
Q38.1 Ankyloglossia
0.000 0.994 0.006
Q40.2 Other specified congenital malformations of stomach
0.000 0.994 0.006
Q85.1 Tuberous sclerosis
0.000 0.994 0.006
Q38.4 Congenital malformations of salivary glands and ducts
0.000 0.994 0.006
Q38.3 Other congenital malformations of tongue
0.000 0.994 0.006
Q38.2 Macroglossia
0.000 0.994 0.006
Q82 Other congenital malformations of skin
0.000 0.994 0.006
Q40.9 Congenital malformation of upper alimentary tract, unspecified
0.000 0.994 0.006
Q40.0 Congenital hypertrophic pyloric stenosis
0.000 0.994 0.006
Q90.2 Trisomy 21, translocation
0.000 0.994 0.006
Q90.1 Trisomy 21, mosaicism (mitotic nondisjunction)
0.000 0.994 0.006
Q90.0 Trisomy 21, meiotic nondisjunction
0.000 0.994 0.006
Q11.1 Other anophthalmos
0.000 0.994 0.006
Q35 Cleft palate
0.000 0.994 0.006
Q17.9 Congenital malformation of ear, unspecified
0.000 0.994 0.006
Q17.8 Other specified congenital malformations of ear
0.000 0.994 0.006
Q17.4 Misplaced ear
0.000 0.994 0.006
Q17.3 Other misshapen ear
0.000 0.994 0.006
Q17.2 Microtia
0.000 0.994 0.006
Q17.1 Macrotia
0.000 0.994 0.006
Q17.0 Accessory auricle
0.000 0.994 0.006
Q45.3 Other congenital malformations of pancreas and pancreatic duct
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
Q40.8 Other specified congenital malformations of upper alimentary tract
0.000 0.994 0.006
Q40.1 Congenital hiatus hernia
0.000 0.994 0.006
Q45.2 Congenital pancreatic cyst
0.000 0.994 0.006
Q45.1 Annular pancreas
0.000 0.994 0.006
Q45.0 Agenesis, aplasia and hypoplasia of pancreas
0.000 0.994 0.006
Q96.9 Turner's syndrome, unspecified
0.000 0.994 0.006
Q06 Other congenital malformations of spinal cord
0.000 0.994 0.006
Q38.5 Congenital malformations of palate, not elsewhere classified
0.000 0.994 0.006
Q44.7 Other congenital malformations of liver
0.000 0.994 0.006
Q07 Other congenital malformations of nervous system
0.000 0.994 0.006
Q41.9 Congenital absence, atresia and stenosis of small intestine, part unspecified
0.000 0.994 0.006
Q41.8 Congenital absence, atresia and stenosis of other specified parts of small intestine
0.000 0.994 0.006
Q41.2 Congenital absence, atresia and stenosis of ileum
0.000 0.994 0.006
Q41.1 Congenital absence, atresia and stenosis of jejunum
0.000 0.994 0.006
Q41.0 Congenital absence, atresia and stenosis of duodenum
0.000 0.994 0.006
Q42.9 Congenital absence, atresia and stenosis of large intestine, part unspecified
0.000 0.994 0.006
Q42.8 Congenital absence, atresia and stenosis of other parts of large intestine
0.000 0.994 0.006
Q42.3 Congenital absence, atresia and stenosis of anus without fistula
0.000 0.994 0.006
Q42.2 Congenital absence, atresia and stenosis of anus with fistula
0.000 0.994 0.006
Q42.1 Congenital absence, atresia and stenosis of rectum without fistula
0.000 0.994 0.006
Q42.0 Congenital absence, atresia and stenosis of rectum with fistula
0.000 0.994 0.006
Q60-Q64 Congenital malformations of the urinary system
0.000 0.994 0.006
Q85.9 Phakomatosis, unspecified
0.000 0.994 0.006
Q96.8 Other variants of Turner's syndrome
0.000 0.994 0.006
Q96.4 Mosaicism, 45,X/other cell line(s) with abnormal sex chromosome
0.000 0.994 0.006
Q96.3 Mosaicism, 45,X/46,XX or XY
0.000 0.994 0.006
Q96.2 Karyotype 46,X with abnormal sex chromosome, except iso (Xq)
0.000 0.994 0.006
Q96.1 Karyotype 46,X iso (Xq)
0.000 0.994 0.006
Q96.0 Karyotype 45,X
0.000 0.994 0.006
D23.5 Skin of trunk
0.006 0.994 0.000
Q03 Congenital hydrocephalus
0.000 0.994 0.006
Q17.5 Prominent ear
0.000 0.994 0.006
Q45.9 Congenital malformation of digestive system, unspecified
0.000 0.994 0.006
Q65-Q79 Congenital malformations and deformations of the musculoskeletal system
0.000 0.994 0.006
Q99.8 Other specified chromosome abnormalities
0.000 0.994 0.006
Q91.7 Patau's syndrome, unspecified
0.000 0.994 0.005
Q91.6 Trisomy 13, translocation
0.000 0.994 0.005
Q91.5 Trisomy 13, mosaicism (mitotic nondisjunction)
0.000 0.994 0.005
Q91.4 Trisomy 13, meiotic nondisjunction
0.000 0.994 0.005
Q91.3 Edwards' syndrome, unspecified
0.000 0.994 0.005
Q91.2 Trisomy 18, translocation
0.000 0.994 0.005
Q91.1 Trisomy 18, mosaicism (mitotic nondisjunction)
0.000 0.994 0.005
Q91.0 Trisomy 18, meiotic nondisjunction
0.000 0.994 0.005
Q92.9 Trisomy and partial trisomy of autosomes, unspecified
0.000 0.994 0.005
Q92.8 Other specified trisomies and partial trisomies of autosomes
0.000 0.994 0.005
Q92.7 Triploidy and polyploidy
0.000 0.994 0.005
Q92.6 Extra marker chromosomes
0.000 0.994 0.005
Q92.5 Duplications with other complex rearrangements
0.000 0.994 0.005
Q92.4 Duplications seen only at prometaphase
0.000 0.994 0.005
Q92.3 Minor partial trisomy
0.000 0.994 0.005
Q92.2 Major partial trisomy
0.000 0.994 0.005
Q92.1 Whole chromosome trisomy, mosaicism (mitotic nondisjunction)
0.000 0.994 0.005
Q92.0 Whole chromosome trisomy, meiotic nondisjunction
0.000 0.994 0.005
Q93.9 Deletion from autosomes, unspecified
0.000 0.994 0.005
Q93.8 Other deletions from the autosomes
0.000 0.994 0.005
Q93.7 Deletions with other complex rearrangements
0.000 0.994 0.005
Q93.6 Deletions seen only at prometaphase
0.000 0.994 0.005
Q93.5 Other deletions of part of a chromosome
0.000 0.994 0.005
Q93.4 Deletion of short arm of chromosome 5
0.000 0.994 0.005
Q93.3 Deletion of short arm of chromosome 4
0.000 0.994 0.005
Q93.2 Chromosome replaced with ring or dicentric
0.000 0.994 0.005
Q93.1 Whole chromosome monosomy, mosaicism (mitotic nondisjunction)
0.000 0.994 0.005
Q93.0 Whole chromosome monosomy, meiotic nondisjunction
0.000 0.994 0.005
Q95.9 Balanced rearrangement and structural marker, unspecified
0.000 0.994 0.005
Q95.8 Other balanced rearrangements and structural markers
0.000 0.994 0.005
Q95.5 Individuals with autosomal fragile site
0.000 0.994 0.005
Q95.4 Individuals with marker heterochromatin
0.000 0.994 0.005
Q95.3 Balanced sex/autosomal rearrangement in abnormal individual
0.000 0.994 0.005
Q95.2 Balanced autosomal rearrangement in abnormal individual
0.000 0.994 0.005
Q95.1 Chromosome inversion in normal individual
0.000 0.994 0.005
Q95.0 Balanced translocation and insertion in normal individual
0.000 0.994 0.005
Q97.9 Sex chromosome abnormality, female phenotype, unspecified
0.000 0.994 0.005
Q97.8 Other specified sex chromosome abnormalities, female phenotype
0.000 0.994 0.005
Q97.3 Female with 46,XY karyotype
0.000 0.994 0.005
Q97.2 Mosaicism, lines with various numbers of X chromosomes
0.000 0.994 0.005
Q97.1 Female with more than three X chromosomes
0.000 0.994 0.005
Q97.0 Karyotype 47,XXX
0.000 0.994 0.005
Q99.9 Chromosomal abnormality, unspecified
0.000 0.994 0.005
Q99.2 Fragile X chromosome
0.000 0.994 0.005
Q99.1 46,XX true hermaphrodite
0.000 0.994 0.005
Q99.0 Chimera 46,XX/46,XY
0.000 0.994 0.005
Z74.0 Reduced mobility
0.006 0.994 0.000
Q98.9 Sex chromosome abnormality, male phenotype, unspecified
0.000 0.994 0.005
Q98.8 Other specified sex chromosome abnormalities, male phenotype
0.000 0.994 0.005
Q98.7 Male with sex chromosome mosaicism
0.000 0.994 0.005
Q98.6 Male with structurally abnormal sex chromosome
0.000 0.994 0.005
Q98.5 Karyotype 47,XYY
0.000 0.994 0.005
Q98.3 Other male with 46,XX karyotype
0.000 0.994 0.005
Q98.2 Klinefelter's syndrome, male with 46,XX karyotype
0.000 0.994 0.005
Q98.1 Klinefelter's syndrome, male with more than two X chromosomes
0.000 0.994 0.005
Q98.0 Klinefelter's syndrome karyotype 47,XXY
0.000 0.994 0.005
Q44.3 Congenital stenosis and stricture of bile ducts
0.000 0.994 0.005
Q44.2 Atresia of bile ducts
0.000 0.994 0.005
Q44.1 Other congenital malformations of gallbladder
0.000 0.994 0.005
Q44.0 Agenesis, aplasia and hypoplasia of gallbladder
0.000 0.994 0.005
C44 Other malignant neoplasms of skin
0.000 0.994 0.006
Q44.5 Other congenital malformations of bile ducts
0.000 0.994 0.005
Q98.4 Klinefelter's syndrome, unspecified
0.000 0.994 0.005
Q05 Spina bifida
0.000 0.995 0.005
Q38.7 Pharyngeal pouch
0.000 0.995 0.005
Q44.4 Choledochal cyst
0.000 0.995 0.005
C44.6 Skin of upper limb, including shoulder
0.000 0.995 0.005
Q87 Other specified congenital malformation syndromes affecting multiple systems
0.000 0.995 0.005
Q37.9 Unspecified cleft palate with unilateral cleft lip
0.000 0.995 0.005
Q39.8 Other congenital malformations of oesophagus
0.000 0.995 0.005
Q39.5 Congenital dilatation of oesophagus
0.000 0.995 0.005
Q39.3 Congenital stenosis and stricture of oesophagus
0.000 0.995 0.005
Q39.2 Congenital tracheooesophageal fistula without atresia
0.000 0.995 0.005
Q39.1 Atresia of oesophagus with tracheooesophageal fistula
0.000 0.995 0.005
Q39.0 Atresia of oesophagus without fistula
0.000 0.995 0.005
Q82.8 Other specified congenital malformations of skin
0.000 0.995 0.005
Q04.8 Other specified congenital malformations of brain
0.000 0.995 0.005
Q31.0 Web of larynx
0.000 0.995 0.005
Q89 Other congenital malformations, not elsewhere classified
0.000 0.995 0.005
Q37.8 Unspecified cleft palate with bilateral cleft lip
0.000 0.995 0.005
Q37.5 Cleft hard and soft palate with unilateral cleft lip
0.000 0.995 0.005
Q37.4 Cleft hard and soft palate with bilateral cleft lip
0.000 0.995 0.005
Q37.3 Cleft soft palate with unilateral cleft lip
0.000 0.995 0.005
Q37.2 Cleft soft palate with bilateral cleft lip
0.000 0.995 0.005
Q37.1 Cleft hard palate with unilateral cleft lip
0.000 0.995 0.005
Q37.0 Cleft hard palate with bilateral cleft lip
0.000 0.995 0.005
Q32.4 Other congenital malformations of bronchus
0.000 0.995 0.005
Q32.3 Congenital stenosis of bronchus
0.000 0.995 0.005
Q32.2 Congenital bronchomalacia
0.000 0.995 0.005
Q32.1 Other congenital malformations of trachea
0.000 0.995 0.005
Q32.0 Congenital tracheomalacia
0.000 0.995 0.005
Q33.9 Congenital malformation of lung, unspecified
0.000 0.995 0.005
Q33.8 Other congenital malformations of lung
0.000 0.995 0.005
Q33.6 Hypoplasia and dysplasia of lung
0.000 0.995 0.005
Q33.5 Ectopic tissue in lung
0.000 0.995 0.005
Q33.4 Congenital bronchiectasis
0.000 0.995 0.005
Q33.3 Agenesis of lung
0.000 0.995 0.005
Q33.2 Sequestration of lung
0.000 0.995 0.005
Q33.1 Accessory lobe of lung
0.000 0.995 0.005
Q33.0 Congenital cystic lung
0.000 0.995 0.005
Q34.9 Congenital malformation of respiratory system, unspecified
0.000 0.995 0.005
Q34.8 Other specified congenital malformations of respiratory system
0.000 0.995 0.005
Q34.1 Congenital cyst of mediastinum
0.000 0.995 0.005
Q34.0 Anomaly of pleura
0.000 0.995 0.005
Q80.9 Congenital ichthyosis, unspecified
0.000 0.995 0.005
Q39.6 Diverticulum of oesophagus
0.000 0.995 0.005
Q31.9 Congenital malformation of larynx, unspecified
0.000 0.995 0.005
Q31.8 Other congenital malformations of larynx
0.000 0.995 0.005
Q31.5 Congenital laryngomalacia
0.000 0.995 0.005
Q31.4 Congenital laryngeal stridor
0.000 0.995 0.005
Q31.2 Laryngeal hypoplasia
0.000 0.995 0.005
Q31.1 Congenital subglottic stenosis
0.000 0.995 0.005
Q83.3 Accessory nipple
0.000 0.995 0.005
Q30.9 Congenital malformation of nose, unspecified
0.000 0.995 0.005
Q39.9 Congenital malformation of oesophagus, unspecified
0.000 0.995 0.005
Q50-Q56 Congenital malformations of genital organs
0.000 0.995 0.005
Q36.9 Cleft lip, unilateral
0.000 0.995 0.005
Q36.1 Cleft lip, medial
0.000 0.995 0.005
Q36.0 Cleft lip, bilateral
0.000 0.995 0.005
Q30.8 Other congenital malformations of nose
0.000 0.995 0.005
Q30.2 Fissured, notched and cleft nose
0.000 0.995 0.005
Q30.1 Agenesis and underdevelopment of nose
0.000 0.995 0.005
Q30.0 Choanal atresia
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
Q83.1 Accessory breast
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
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
Q31.3 Laryngocele
0.000 0.995 0.005
Q60 Renal agenesis and other reduction defects of kidney
0.000 0.995 0.005
Q83.8 Other congenital malformations of breast
0.000 0.995 0.005
Q30.3 Congenital perforated nasal septum
0.000 0.995 0.005
Q04.9 Congenital malformation of brain, unspecified
0.000 0.995 0.005
Q04.5 Megalencephaly
0.000 0.995 0.005
Q04.4 Septo-optic dysplasia
0.000 0.995 0.005
Q04.3 Other reduction deformities of brain
0.000 0.995 0.005
Q04.2 Holoprosencephaly
0.000 0.995 0.005
Q04.1 Arhinencephaly
0.000 0.995 0.005
Q04.0 Congenital malformations of corpus callosum
0.000 0.995 0.005
Q04.6 Congenital cerebral cysts
0.000 0.995 0.005
Q39.4 Oesophageal web
0.000 0.995 0.005
Q44.6 Cystic disease of liver
0.000 0.995 0.005
Q82.9 Congenital malformation of skin, unspecified
0.000 0.995 0.005
Q82.4 Ectodermal dysplasia (anhidrotic)
0.000 0.995 0.005
Q82.3 Incontinentia pigmenti
0.000 0.995 0.005
Q82.1 Xeroderma pigmentosum
0.000 0.995 0.005
Q35.8 (Cleft palate, unspecified, bilateral)
0.000 0.995 0.004
Q35.7 Cleft uvula
0.000 0.995 0.004
Q35.6 Cleft palate, medial
0.000 0.995 0.004
Q35.5 Cleft hard palate with cleft soft palate
0.000 0.995 0.004
Q35.4 (Cleft hard palate with cleft soft palate, bilateral)
0.000 0.995 0.004
Q35.3 Cleft soft palate
0.000 0.995 0.004
Q35.2 (Cleft soft palate, bilateral)
0.000 0.995 0.004
Q35.1 Cleft hard palate
0.000 0.995 0.004
Q35.0 (Cleft hard palate, bilateral)
0.000 0.995 0.004
Q00.2 Iniencephaly
0.000 0.995 0.004
Q00.1 Craniorachischisis
0.000 0.995 0.004
Q00.0 Anencephaly
0.000 0.995 0.004
Q01.9 Encephalocele, unspecified
0.000 0.995 0.004
Q01.8 Encephalocele of other sites
0.000 0.995 0.004
Q01.2 Occipital encephalocele
0.000 0.995 0.004
Q01.1 Nasofrontal encephalocele
0.000 0.995 0.004
Q01.0 Frontal encephalocele
0.000 0.995 0.004
Q74 Other congenital malformations of limb(s)
0.000 0.995 0.005
C44.9 Malignant neoplasm of skin, unspecified
0.000 0.995 0.005
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
Q06.2 Diastematomyelia
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
Q07.9 Congenital malformation of nervous system, unspecified
0.000 0.995 0.004
Q05.7 Lumbar spina bifida without hydrocephalus
0.000 0.995 0.004
Q82.5 Congenital nonneoplastic naevus
0.000 0.995 0.004
Q07.8 Other specified congenital malformations of nervous system
0.000 0.995 0.004
Q82.0 Hereditary lymphoedema
0.000 0.995 0.004
Q06.8 Other specified congenital malformations of spinal cord
0.000 0.995 0.004
Q07.0 Arnold-Chiari syndrome
0.000 0.995 0.004
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
Q67 Congenital musculoskeletal deformities of head, face, spine and chest
0.000 0.996 0.004
Q78 Other osteochondrodysplasias
0.000 0.996 0.004
Q73 Reduction defects of unspecified limb
0.000 0.996 0.004
Q72 Reduction defects of lower limb
0.000 0.996 0.004
Q71 Reduction defects of upper limb
0.000 0.996 0.004
Q70 Syndactyly
0.000 0.996 0.004
Q69 Polydactyly
0.000 0.996 0.004
Q77 Osteochondrodysplasia with defects of growth of tubular bones and spine
0.000 0.996 0.004
Q75 Other congenital malformations of skull and face bones
0.000 0.996 0.004
C44.8 Overlapping lesion of skin
0.000 0.996 0.004
Q63 Other congenital malformations of kidney
0.000 0.996 0.004
Q82.2 Mastocytosis
0.000 0.996 0.004
Q35.9 Cleft palate, unspecified
0.000 0.996 0.004
Q60.2 Renal agenesis, unspecified
0.000 0.996 0.004
Q05.8 Sacral spina bifida without hydrocephalus
0.000 0.996 0.004
Q05.6 Thoracic spina bifida without hydrocephalus
0.000 0.996 0.004
Q05.5 Cervical spina bifida without hydrocephalus
0.000 0.996 0.004
Q05.3 Sacral spina bifida with hydrocephalus
0.000 0.996 0.004
Q05.2 Lumbar spina bifida with hydrocephalus
0.000 0.996 0.004
Q05.1 Thoracic spina bifida with hydrocephalus
0.000 0.996 0.004
Q05.0 Cervical spina bifida with hydrocephalus
0.000 0.996 0.004
Q64 Other congenital malformations of urinary system
0.000 0.996 0.004
Q87.5 Other congenital malformation syndromes with other skeletal changes
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.

This website was created, designed, and edited by ORCID iD iconPatrick K. Albers

The contents of TreeWAS.org are available under the Creative Commons Attribution 4.0 International License (CC BY 4.0) with attribution (citation) required.

TreeWAS Database © 2019 - 2024 About Frequently Asked Questions Citation Contact Terms & Conditions This website does not use cookies to collect any personal information about you.