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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

rs2553218
log Bayes Factor = <0.0001
Chromosome 15   position 54,868,668  (GRCh37) Explore rs2553218 on Ensembl!
Variant rs2553218 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
  
Q21.1 Atrial septal defect
0.000 0.957 0.043
Q21 Congenital malformations of cardiac septa
0.000 0.966 0.034
B07 Viral warts
0.000 0.969 0.031
Q20-Q28 Congenital malformations of the circulatory system
0.000 0.971 0.029
Q21.0 Ventricular septal defect
0.000 0.973 0.027
Q21.8 Other congenital malformations of cardiac septa
0.000 0.975 0.025
Q21.4 Aortopulmonary septal defect
0.000 0.975 0.025
Q21.2 Atrioventricular septal defect
0.000 0.975 0.025
Q25 Congenital malformations of great arteries
0.000 0.976 0.024
Q21.9 Congenital malformation of cardiac septum, unspecified
0.000 0.976 0.024
Q28 Other congenital malformations of circulatory system
0.000 0.976 0.024
Q21.3 Tetralogy of Fallot
0.000 0.977 0.022
Q24 Other congenital malformations of heart
0.000 0.978 0.022
Q27 Other congenital malformations of peripheral vascular system
0.000 0.978 0.022
Q26 Congenital malformations of great veins
0.000 0.979 0.021
Q20 Congenital malformations of cardiac chambers and connexions
0.000 0.979 0.021
Q28.2 Arteriovenous malformation of cerebral vessels
0.000 0.980 0.020
Q25.1 Coarctation of aorta
0.000 0.980 0.020
Q22 Congenital malformations of pulmonary and tricuspid valves
0.000 0.980 0.020
Q23 Congenital malformations of aortic and mitral valves
0.000 0.981 0.019
Q25.0 Patent ductus arteriosus
0.000 0.981 0.019
Chapter XVII Congenital malformations, deformations and chromosomal abnormalities
0.000 0.981 0.019
Q24.8 Other specified congenital malformations of heart
0.000 0.981 0.019
Q25.3 Stenosis of aorta
0.000 0.982 0.018
Q28.0 Arteriovenous malformation of precerebral vessels
0.000 0.982 0.018
Q27.9 Congenital malformation of peripheral vascular system, unspecified
0.000 0.982 0.018
Q25.9 Congenital malformation of great arteries, unspecified
0.000 0.982 0.017
Q25.8 Other congenital malformations of great arteries
0.000 0.982 0.017
Q25.5 Atresia of pulmonary artery
0.000 0.982 0.017
Q25.2 Atresia of aorta
0.000 0.982 0.017
Q24.5 Malformation of coronary vessels
0.000 0.983 0.017
Q25.6 Stenosis of pulmonary artery
0.000 0.983 0.017
Q25.7 Other congenital malformations of pulmonary artery
0.000 0.983 0.017
Q10-Q18 Congenital malformations of eye, ear, face and neck
0.000 0.983 0.017
Q28.9 Congenital malformation of circulatory system, unspecified
0.000 0.983 0.017
Q28.8 Other specified congenital malformations of circulatory system
0.000 0.983 0.017
Q28.1 Other malformations of precerebral vessels
0.000 0.983 0.017
Q25.4 Other congenital malformations of aorta
0.000 0.983 0.017
Q80-Q89 Other congenital malformations
0.000 0.983 0.017
Q90-Q99 Chromosomal abnormalities, not elsewhere classified
0.000 0.983 0.017
Q24.6 Congenital heart block
0.000 0.984 0.016
Q24.4 Congenital subaortic stenosis
0.000 0.984 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
Q27.4 Congenital phlebectasia
0.000 0.984 0.016
Q27.2 Other congenital malformations of renal artery
0.000 0.984 0.016
Q27.1 Congenital renal artery stenosis
0.000 0.984 0.016
Q27.0 Congenital absence and hypoplasia of umbilical artery
0.000 0.984 0.016
Q28.3 Other malformations of cerebral vessels
0.000 0.984 0.016
Q89 Other congenital malformations, not elsewhere classified
0.000 0.985 0.015
Q27.3 Peripheral arteriovenous malformation
0.000 0.985 0.015
Q20.9 Congenital malformation of cardiac chambers and connexions, unspecified
0.000 0.985 0.015
Q20.8 Other congenital malformations of cardiac chambers and connexions
0.000 0.985 0.015
Q20.6 Isomerism of atrial appendages
0.000 0.985 0.015
Q20.5 Discordant atrioventricular connexion
0.000 0.985 0.015
Q20.4 Double inlet ventricle
0.000 0.985 0.015
Q20.3 Discordant ventriculoarterial connexion
0.000 0.985 0.015
Q20.2 Double outlet left ventricle
0.000 0.985 0.015
Q20.1 Double outlet right ventricle
0.000 0.985 0.015
Q20.0 Common arterial trunk
0.000 0.985 0.015
Q26.9 Congenital malformation of great vein, unspecified
0.000 0.985 0.015
Q26.8 Other congenital malformations of great veins
0.000 0.985 0.015
Q26.6 Portal vein-hepatic artery fistula
0.000 0.985 0.015
Q26.5 Anomalous portal venous connexion
0.000 0.985 0.015
Q26.4 Anomalous pulmonary venous connexion, unspecified
0.000 0.985 0.015
Q26.3 Partial anomalous pulmonary venous connexion
0.000 0.985 0.015
Q26.2 Total anomalous pulmonary venous connexion
0.000 0.985 0.015
Q26.1 Persistent left superior vena cava
0.000 0.985 0.015
Q26.0 Congenital stenosis of vena cava
0.000 0.985 0.015
Q12 Congenital lens malformations
0.000 0.985 0.015
Q82 Other congenital malformations of skin
0.000 0.985 0.015
Q35-Q37 Cleft lip and cleft palate
0.000 0.985 0.015
Q23.1 Congenital insufficiency of aortic valve
0.000 0.985 0.015
Q82.5 Congenital nonneoplastic naevus
0.000 0.985 0.015
Q27.8 Other specified congenital malformations of peripheral vascular system
0.000 0.985 0.014
Q18 Other congenital malformations of face and neck
0.000 0.985 0.015
Q24.0 Dextrocardia
0.000 0.986 0.014
Q22.9 Congenital malformation of tricuspid valve, unspecified
0.000 0.986 0.014
Q22.8 Other congenital malformations of tricuspid valve
0.000 0.986 0.014
Q22.6 Hypoplastic right heart syndrome
0.000 0.986 0.014
Q22.5 Ebstein's anomaly
0.000 0.986 0.014
Q22.4 Congenital tricuspid stenosis
0.000 0.986 0.014
Q22.3 Other congenital malformations of pulmonary valve
0.000 0.986 0.014
Q22.2 Congenital pulmonary valve insufficiency
0.000 0.986 0.014
Q22.0 Pulmonary valve atresia
0.000 0.986 0.014
Q38-Q45 Other congenital malformations of the digestive system
0.000 0.986 0.014
Q89.2 Congenital malformations of other endocrine glands
0.000 0.986 0.014
Q90 Down's syndrome
0.000 0.986 0.014
Q23.9 Congenital malformation of aortic and mitral valves, unspecified
0.000 0.986 0.014
Q23.8 Other congenital malformations of aortic and mitral valves
0.000 0.986 0.014
Q23.4 Hypoplastic left heart syndrome
0.000 0.986 0.014
Q23.2 Congenital mitral stenosis
0.000 0.986 0.014
Q15 Other congenital malformations of eye
0.000 0.986 0.014
Q12.0 Congenital cataract
0.000 0.986 0.014
Q99 Other chromosome abnormalities, not elsewhere classified
0.000 0.986 0.014
Q65-Q79 Congenital malformations and deformations of the musculoskeletal system
0.000 0.986 0.014
Q18.0 Sinus, fistula and cyst of branchial cleft
0.000 0.987 0.013
Q22.1 Congenital pulmonary valve stenosis
0.000 0.987 0.013
Q23.3 Congenital mitral insufficiency
0.000 0.987 0.013
Q30-Q34 Congenital malformations of the respiratory system
0.000 0.987 0.013
Q98 Other sex chromosome abnormalities, male phenotype, not elsewhere classified
0.000 0.987 0.013
Q96 Turner's syndrome
0.000 0.987 0.013
Q23.0 Congenital stenosis of aortic valve
0.000 0.987 0.013
Q16 Congenital malformations of ear causing impairment of hearing
0.000 0.987 0.012
Q13 Congenital malformations of anterior segment of eye
0.000 0.987 0.012
Q14 Congenital malformations of posterior segment of eye
0.000 0.987 0.012
Q39 Congenital malformations of oesophagus
0.000 0.987 0.012
Q86 Congenital malformation syndromes due to known exogenous causes, not elsewhere classified
0.000 0.988 0.012
Q84 Other congenital malformations of integument
0.000 0.988 0.012
Q81 Epidermolysis bullosa
0.000 0.988 0.012
Q80 Congenital ichthyosis
0.000 0.988 0.012
Q97 Other sex chromosome abnormalities, female phenotype, not elsewhere classified
0.000 0.988 0.012
Q95 Balanced rearrangements and structural markers, not elsewhere classified
0.000 0.988 0.012
Q93 Monosomies and deletions from the autosomes, not elsewhere classified
0.000 0.988 0.012
Q92 Other trisomies and partial trisomies of the autosomes, not elsewhere classified
0.000 0.988 0.012
Q91 Edwards' syndrome and Patau's syndrome
0.000 0.988 0.012
Q10 Congenital malformations of eyelid, lachrymal apparatus and orbit
0.000 0.988 0.012
Q90.9 Down's syndrome, unspecified
0.000 0.988 0.012
O16 Unspecified maternal hypertension
0.012 0.988 0.000
Q24.9 Congenital malformation of the heart, unspecified
0.000 0.988 0.012
Q85 Phakomatoses, not elsewhere classified
0.000 0.988 0.012
Q87 Other specified congenital malformation syndromes affecting multiple systems
0.000 0.988 0.012
Q60-Q64 Congenital malformations of the urinary system
0.000 0.988 0.012
O21 Excessive vomiting in pregnancy
0.012 0.988 0.000
Q11 Anophthalmos, microphthalmos and macrophthalmos
0.000 0.988 0.012
Q15.0 Congenital glaucoma
0.000 0.988 0.012
Q99.8 Other specified chromosome abnormalities
0.000 0.988 0.012
Q76 Congenital malformations of spine and bony thorax
0.000 0.988 0.012
Q17 Other congenital malformations of ear
0.000 0.988 0.011
Q67 Congenital musculoskeletal deformities of head, face, spine and chest
0.000 0.989 0.011
O23 Infections of genito-urinary tract in pregnancy
0.011 0.989 0.000
Q37 Cleft palate with cleft lip
0.000 0.989 0.011
Q38 Other congenital malformations of tongue, mouth and pharynx
0.000 0.989 0.011
Q89.9 Congenital malformation, unspecified
0.000 0.989 0.011
Q89.8 Other specified congenital malformations
0.000 0.989 0.011
Q89.7 Multiple congenital malformations, not elsewhere classified
0.000 0.989 0.011
Q89.4 Conjoined twins
0.000 0.989 0.011
Q89.3 Situs inversus
0.000 0.989 0.011
Q89.1 Congenital malformations of adrenal gland
0.000 0.989 0.011
Q89.0 Congenital malformations of spleen
0.000 0.989 0.011
O21.0 Mild hyperemesis gravidarum
0.011 0.989 0.000
Q83 Congenital malformations of breast
0.000 0.989 0.011
Q12.9 Congenital lens malformation, unspecified
0.000 0.989 0.011
Q12.8 Other congenital lens malformations
0.000 0.989 0.011
Q12.4 Spherophakia
0.000 0.989 0.011
Q12.3 Congenital aphakia
0.000 0.989 0.011
Q12.2 Coloboma of lens
0.000 0.989 0.011
Q12.1 Congenital displaced lens
0.000 0.989 0.011
Q35 Cleft palate
0.000 0.989 0.011
O20-O29 Other maternal disorders predominantly related to pregnancy
0.011 0.989 0.000
Q44 Congenital malformations of gallbladder, bile ducts and liver
0.000 0.989 0.011
Q82.8 Other specified congenital malformations of skin
0.000 0.989 0.011
Q82.9 Congenital malformation of skin, unspecified
0.000 0.989 0.011
Q82.4 Ectodermal dysplasia (anhidrotic)
0.000 0.989 0.011
Q82.3 Incontinentia pigmenti
0.000 0.989 0.011
Q82.1 Xeroderma pigmentosum
0.000 0.989 0.011
Q36 Cleft lip
0.000 0.989 0.011
Q39.6 Diverticulum of oesophagus
0.000 0.989 0.011
Q18.9 Congenital malformation of face and neck, unspecified
0.000 0.989 0.011
Q18.8 Other specified congenital malformations of face and neck
0.000 0.989 0.011
Q18.7 Microcheilia
0.000 0.989 0.011
Q18.6 Macrocheilia
0.000 0.989 0.011
Q18.5 Microstomia
0.000 0.989 0.011
Q18.4 Macrostomia
0.000 0.989 0.011
Q18.3 Webbing of neck
0.000 0.989 0.011
Q18.2 Other branchial cleft malformations
0.000 0.989 0.011
Q42 Congenital absence, atresia and stenosis of large intestine
0.000 0.989 0.010
Q41 Congenital absence, atresia and stenosis of small intestine
0.000 0.989 0.010
Q65 Congenital deformities of hip
0.000 0.989 0.010
Q90.2 Trisomy 21, translocation
0.000 0.990 0.010
Q90.1 Trisomy 21, mosaicism (mitotic nondisjunction)
0.000 0.990 0.010
Q90.0 Trisomy 21, meiotic nondisjunction
0.000 0.990 0.010
Q76.0 Spina bifida occulta
0.000 0.990 0.010
Q15.9 Congenital malformation of eye, unspecified
0.000 0.990 0.010
Q15.8 Other specified congenital malformations of eye
0.000 0.990 0.010
O28 Abnormal findings on antenatal screening of mother
0.010 0.990 0.000
Q87.8 Other specified congenital malformation syndromes, not elsewhere classified
0.000 0.990 0.010
O23.4 Unspecified infection of urinary tract in pregnancy
0.010 0.990 0.000
K65.0 Acute peritonitis
0.000 0.990 0.010
Q99.9 Chromosomal abnormality, unspecified
0.000 0.990 0.010
Q99.2 Fragile X chromosome
0.000 0.990 0.010
Q99.1 46,XX true hermaphrodite
0.000 0.990 0.010
Q99.0 Chimera 46,XX/46,XY
0.000 0.990 0.010
Q45 Other congenital malformations of digestive system
0.000 0.990 0.010
Q98.4 Klinefelter's syndrome, unspecified
0.000 0.990 0.010
O23.9 Other and unspecified genito-urinary tract infection in pregnancy
0.010 0.990 0.000
Q39.4 Oesophageal web
0.000 0.990 0.010
Q77 Osteochondrodysplasia with defects of growth of tubular bones and spine
0.000 0.990 0.010
Q75 Other congenital malformations of skull and face bones
0.000 0.990 0.010
Q73 Reduction defects of unspecified limb
0.000 0.990 0.010
Q72 Reduction defects of lower limb
0.000 0.990 0.010
Q71 Reduction defects of upper limb
0.000 0.990 0.010
Q69 Polydactyly
0.000 0.990 0.010
Q68 Other congenital musculoskeletal deformities
0.000 0.990 0.010
Q66 Congenital deformities of feet
0.000 0.990 0.010
Q18.1 Preauricular sinus and cyst
0.000 0.990 0.010
O21.2 Late vomiting of pregnancy
0.010 0.990 0.000
Q67.5 Congenital deformity of spine
0.000 0.990 0.010
Q96.9 Turner's syndrome, unspecified
0.000 0.990 0.010
O22 Venous complications in pregnancy
0.010 0.990 0.000
O23.5 Infections of the genital tract in pregnancy
0.010 0.990 0.000
Q44.6 Cystic disease of liver
0.000 0.990 0.010
Q70 Syndactyly
0.000 0.990 0.009
Q34 Other congenital malformations of respiratory system
0.000 0.990 0.009
Q33 Congenital malformations of lung
0.000 0.990 0.009
Q32 Congenital malformations of trachea and bronchus
0.000 0.990 0.009
Q30 Congenital malformations of nose
0.000 0.990 0.009
Q38.7 Pharyngeal pouch
0.000 0.990 0.010
Q98.9 Sex chromosome abnormality, male phenotype, unspecified
0.000 0.990 0.009
Q98.8 Other specified sex chromosome abnormalities, male phenotype
0.000 0.990 0.009
Q98.7 Male with sex chromosome mosaicism
0.000 0.990 0.009
Q98.6 Male with structurally abnormal sex chromosome
0.000 0.990 0.009
Q98.5 Karyotype 47,XYY
0.000 0.990 0.009
Q98.3 Other male with 46,XX karyotype
0.000 0.990 0.009
Q98.2 Klinefelter's syndrome, male with 46,XX karyotype
0.000 0.990 0.009
Q98.1 Klinefelter's syndrome, male with more than two X chromosomes
0.000 0.990 0.009
Q98.0 Klinefelter's syndrome karyotype 47,XXY
0.000 0.990 0.009
Q62 Congenital obstructive defects of renal pelvis and congenital malformations of ureter
0.000 0.990 0.009
Q64 Other congenital malformations of urinary system
0.000 0.990 0.009
Q82.2 Mastocytosis
0.000 0.990 0.009
Q85.9 Phakomatosis, unspecified
0.000 0.991 0.009
Q96.8 Other variants of Turner's syndrome
0.000 0.991 0.009
Q96.4 Mosaicism, 45,X/other cell line(s) with abnormal sex chromosome
0.000 0.991 0.009
Q96.3 Mosaicism, 45,X/46,XX or XY
0.000 0.991 0.009
Q96.2 Karyotype 46,X with abnormal sex chromosome, except iso (Xq)
0.000 0.991 0.009
Q96.1 Karyotype 46,X iso (Xq)
0.000 0.991 0.009
Q96.0 Karyotype 45,X
0.000 0.991 0.009
O21.8 Other vomiting complicating pregnancy
0.009 0.991 0.000
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
Q16.9 Congenital malformation of ear causing impairment of hearing, unspecified
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
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
O21.1 Hyperemesis gravidarum with metabolic disturbance
0.009 0.991 0.000
Q87.0 Congenital malformation syndromes predominantly affecting facial appearance
0.000 0.991 0.009
Q39.9 Congenital malformation of oesophagus, unspecified
0.000 0.991 0.009
Q39.8 Other congenital malformations of oesophagus
0.000 0.991 0.009
Q39.5 Congenital dilatation of oesophagus
0.000 0.991 0.009
Q39.3 Congenital stenosis and stricture of oesophagus
0.000 0.991 0.009
Q39.2 Congenital tracheooesophageal fistula without atresia
0.000 0.991 0.009
Q39.1 Atresia of oesophagus with tracheooesophageal fistula
0.000 0.991 0.009
Q39.0 Atresia of oesophagus without fistula
0.000 0.991 0.009
Q14.1 Congenital malformation of retina
0.000 0.991 0.009
Q80.9 Congenital ichthyosis, unspecified
0.000 0.991 0.009
Q80.8 Other congenital ichthyosis
0.000 0.991 0.009
Q80.4 Harlequin foetus
0.000 0.991 0.009
Q80.3 Congenital bullous ichthyosiform erythroderma
0.000 0.991 0.009
Q80.2 Lamellar ichthyosis
0.000 0.991 0.009
Q80.1 X-linked ichthyosis
0.000 0.991 0.009
Q80.0 Ichthyosis vulgaris
0.000 0.991 0.009
Q81.9 Epidermolysis bullosa, unspecified
0.000 0.991 0.009
Q81.8 Other epidermolysis bullosa
0.000 0.991 0.009
Q81.2 Epidermolysis bullosa dystrophica
0.000 0.991 0.009
Q81.1 Epidermolysis bullosa letalis
0.000 0.991 0.009
Q81.0 Epidermolysis bullosa simplex
0.000 0.991 0.009
Q84.9 Congenital malformation of integument, unspecified
0.000 0.991 0.009
Q84.8 Other specified congenital malformations of integument
0.000 0.991 0.009
Q84.6 Other congenital malformations of nails
0.000 0.991 0.009
Q84.5 Enlarged and hypertrophic nails
0.000 0.991 0.009
Q84.4 Congenital leukonychia
0.000 0.991 0.009
Q84.3 Anonychia
0.000 0.991 0.009
Q84.2 Other congenital malformations of hair
0.000 0.991 0.009
Q84.1 Congenital morphological disturbances of hair, not elsewhere classified
0.000 0.991 0.009
Q84.0 Congenital alopecia
0.000 0.991 0.009
Q86.8 Other congenital malformation syndromes due to known exogenous causes
0.000 0.991 0.009
Q86.2 Dysmorphism due to warfarin
0.000 0.991 0.009
Q86.1 Foetal hydantoin syndrome
0.000 0.991 0.009
Q86.0 Foetal alcohol syndrome (dysmorphic)
0.000 0.991 0.009
Q43 Other congenital malformations of intestine
0.000 0.991 0.009
Q91.7 Patau's syndrome, unspecified
0.000 0.991 0.009
Q91.6 Trisomy 13, translocation
0.000 0.991 0.009
Q91.5 Trisomy 13, mosaicism (mitotic nondisjunction)
0.000 0.991 0.009
Q91.4 Trisomy 13, meiotic nondisjunction
0.000 0.991 0.009
Q91.3 Edwards' syndrome, unspecified
0.000 0.991 0.009
Q91.2 Trisomy 18, translocation
0.000 0.991 0.009
Q91.1 Trisomy 18, mosaicism (mitotic nondisjunction)
0.000 0.991 0.009
Q91.0 Trisomy 18, meiotic nondisjunction
0.000 0.991 0.009
Q92.9 Trisomy and partial trisomy of autosomes, unspecified
0.000 0.991 0.009
Q92.8 Other specified trisomies and partial trisomies of autosomes
0.000 0.991 0.009
Q92.7 Triploidy and polyploidy
0.000 0.991 0.009
Q92.6 Extra marker chromosomes
0.000 0.991 0.009
Q92.5 Duplications with other complex rearrangements
0.000 0.991 0.009
Q92.4 Duplications seen only at prometaphase
0.000 0.991 0.009
Q92.3 Minor partial trisomy
0.000 0.991 0.009
Q92.2 Major partial trisomy
0.000 0.991 0.009
Q92.1 Whole chromosome trisomy, mosaicism (mitotic nondisjunction)
0.000 0.991 0.009
Q92.0 Whole chromosome trisomy, meiotic nondisjunction
0.000 0.991 0.009
Q93.9 Deletion from autosomes, unspecified
0.000 0.991 0.009
Q93.8 Other deletions from the autosomes
0.000 0.991 0.009
Q93.7 Deletions with other complex rearrangements
0.000 0.991 0.009
Q93.6 Deletions seen only at prometaphase
0.000 0.991 0.009
Q93.5 Other deletions of part of a chromosome
0.000 0.991 0.009
Q93.4 Deletion of short arm of chromosome 5
0.000 0.991 0.009
Q93.3 Deletion of short arm of chromosome 4
0.000 0.991 0.009
Q93.2 Chromosome replaced with ring or dicentric
0.000 0.991 0.009
Q93.1 Whole chromosome monosomy, mosaicism (mitotic nondisjunction)
0.000 0.991 0.009
Q93.0 Whole chromosome monosomy, meiotic nondisjunction
0.000 0.991 0.009
Q95.9 Balanced rearrangement and structural marker, unspecified
0.000 0.991 0.009
Q95.8 Other balanced rearrangements and structural markers
0.000 0.991 0.009
Q95.5 Individuals with autosomal fragile site
0.000 0.991 0.009
Q95.4 Individuals with marker heterochromatin
0.000 0.991 0.009
Q95.3 Balanced sex/autosomal rearrangement in abnormal individual
0.000 0.991 0.009
Q95.2 Balanced autosomal rearrangement in abnormal individual
0.000 0.991 0.009
Q95.1 Chromosome inversion in normal individual
0.000 0.991 0.009
Q95.0 Balanced translocation and insertion in normal individual
0.000 0.991 0.009
Q97.9 Sex chromosome abnormality, female phenotype, unspecified
0.000 0.991 0.009
Q97.8 Other specified sex chromosome abnormalities, female phenotype
0.000 0.991 0.009
Q97.3 Female with 46,XY karyotype
0.000 0.991 0.009
Q97.2 Mosaicism, lines with various numbers of X chromosomes
0.000 0.991 0.009
Q97.1 Female with more than three X chromosomes
0.000 0.991 0.009
Q97.0 Karyotype 47,XXX
0.000 0.991 0.009
Q66.3 Other congenital varus deformities of feet
0.000 0.991 0.009
Q76.1 Klippel-Feil syndrome
0.000 0.991 0.009
Q67.4 Other congenital deformities of skull, face and jaw
0.000 0.991 0.009
Q74 Other congenital malformations of limb(s)
0.000 0.991 0.009
O28.1 Abnormal biochemical finding on antenatal screening of mother
0.009 0.991 0.000
Q37.9 Unspecified cleft palate with unilateral cleft lip
0.000 0.991 0.009
Q10.7 Congenital malformation of orbit
0.000 0.991 0.009
Q10.6 Other congenital malformations of lachrymal apparatus
0.000 0.991 0.009
Q10.5 Congenital stenosis and stricture of lachrymal duct
0.000 0.991 0.009
Q10.4 Absence and agenesis of lachrymal apparatus
0.000 0.991 0.009
Q10.3 Other congenital malformations of eyelid
0.000 0.991 0.009
Q10.2 Congenital entropion
0.000 0.991 0.009
Q10.1 Congenital ectropion
0.000 0.991 0.009
Q63 Other congenital malformations of kidney
0.000 0.991 0.009
O21.9 Vomiting of pregnancy, unspecified
0.009 0.991 0.000
O22.4 Haemorrhoids in pregnancy
0.009 0.991 0.000
Q87.5 Other congenital malformation syndromes with other skeletal changes
0.000 0.991 0.009
Q87.3 Congenital malformation syndromes involving early overgrowth
0.000 0.991 0.009
Q87.2 Congenital malformation syndromes predominantly involving limbs
0.000 0.991 0.009
Q31 Congenital malformations of larynx
0.000 0.991 0.008
O28.0 Abnormal haematological finding on antenatal screening of mother
0.009 0.991 0.000
Q11.3 Macrophthalmos
0.000 0.991 0.008
Q11.2 Microphthalmos
0.000 0.991 0.008
Q11.0 Cystic eyeball
0.000 0.991 0.008
O23.0 Infections of kidney in pregnancy
0.009 0.991 0.000
Q65.8 Other congenital deformities of hip
0.000 0.991 0.009
Q78 Other osteochondrodysplasias
0.000 0.991 0.008
Q35.9 Cleft palate, unspecified
0.000 0.991 0.008
Q10.0 Congenital ptosis
0.000 0.991 0.008
Q62.5 Duplication of ureter
0.000 0.991 0.009
Q82.0 Hereditary lymphoedema
0.000 0.991 0.008
Q76.9 Congenital malformation of bony thorax, unspecified
0.000 0.991 0.008
Q76.8 Other congenital malformations of bony thorax
0.000 0.991 0.008
Q76.7 Congenital malformation of sternum
0.000 0.991 0.008
Q76.6 Other congenital malformations of ribs
0.000 0.991 0.008
Q76.3 Congenital scoliosis due to congenital bony malformation
0.000 0.991 0.008
Q76.2 Congenital spondylolisthesis
0.000 0.991 0.008
Q50-Q56 Congenital malformations of genital organs
0.000 0.991 0.008
Q17.9 Congenital malformation of ear, unspecified
0.000 0.991 0.008
Q17.8 Other specified congenital malformations of ear
0.000 0.991 0.008
Q17.4 Misplaced ear
0.000 0.991 0.008
Q17.3 Other misshapen ear
0.000 0.991 0.008
Q17.2 Microtia
0.000 0.991 0.008
Q17.1 Macrotia
0.000 0.991 0.008
Q17.0 Accessory auricle
0.000 0.991 0.008
Q67.8 Other congenital deformities of chest
0.000 0.991 0.008
Q67.7 Pectus carinatum
0.000 0.991 0.008
Q67.3 Plagiocephaly
0.000 0.991 0.008
Q67.2 Dolichocephaly
0.000 0.991 0.008
Q67.1 Compression facies
0.000 0.991 0.008
Q67.0 Facial asymmetry
0.000 0.991 0.008
O23.3 Infections of other parts of urinary tract in pregnancy
0.008 0.992 0.000
O23.2 Infections of urethra in pregnancy
0.008 0.992 0.000
O23.1 Infections of bladder in pregnancy
0.008 0.992 0.000
Q37.8 Unspecified cleft palate with bilateral cleft lip
0.000 0.992 0.008
Q37.5 Cleft hard and soft palate with unilateral cleft lip
0.000 0.992 0.008
Q37.4 Cleft hard and soft palate with bilateral cleft lip
0.000 0.992 0.008
Q37.3 Cleft soft palate with unilateral cleft lip
0.000 0.992 0.008
Q37.2 Cleft soft palate with bilateral cleft lip
0.000 0.992 0.008
Q37.1 Cleft hard palate with unilateral cleft lip
0.000 0.992 0.008
Q37.0 Cleft hard palate with bilateral cleft lip
0.000 0.992 0.008
Q38.1 Ankyloglossia
0.000 0.992 0.008
Q85.1 Tuberous sclerosis
0.000 0.992 0.008
Q38.5 Congenital malformations of palate, not elsewhere classified
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
Q38.0 Congenital malformations of lips, not elsewhere classified
0.000 0.992 0.008
Q00-Q07 Congenital malformations of the nervous system
0.000 0.992 0.008
Q85.0 Neurofibromatosis (nonmalignant)
0.000 0.992 0.008
Q83.9 Congenital malformation of breast, unspecified
0.000 0.992 0.008
Q83.2 Absent nipple
0.000 0.992 0.008
Q83.0 Congenital absence of breast with absent nipple
0.000 0.992 0.008
Q38.8 Other congenital malformations of pharynx
0.000 0.992 0.008
Q35.8 (Cleft palate, unspecified, bilateral)
0.000 0.992 0.008
Q35.7 Cleft uvula
0.000 0.992 0.008
Q35.6 Cleft palate, medial
0.000 0.992 0.008
Q35.5 Cleft hard palate with cleft soft palate
0.000 0.992 0.008
Q35.4 (Cleft hard palate with cleft soft palate, bilateral)
0.000 0.992 0.008
Q35.3 Cleft soft palate
0.000 0.992 0.008
Q35.2 (Cleft soft palate, bilateral)
0.000 0.992 0.008
Q35.1 Cleft hard palate
0.000 0.992 0.008
Q35.0 (Cleft hard palate, bilateral)
0.000 0.992 0.008
Q83.8 Other congenital malformations of breast
0.000 0.992 0.008
O29 Complications of anaesthesia during pregnancy
0.008 0.992 0.000
O25 Malnutrition in pregnancy
0.008 0.992 0.000
Q44.7 Other congenital malformations of liver
0.000 0.992 0.008
Q44.3 Congenital stenosis and stricture of bile ducts
0.000 0.992 0.008
Q44.2 Atresia of bile ducts
0.000 0.992 0.008
Q44.1 Other congenital malformations of gallbladder
0.000 0.992 0.008
Q44.0 Agenesis, aplasia and hypoplasia of gallbladder
0.000 0.992 0.008
Q85.8 Other phakomatoses, not elsewhere classified
0.000 0.992 0.008
Q40 Other congenital malformations of upper alimentary tract
0.000 0.992 0.008
Q83.3 Accessory nipple
0.000 0.992 0.008
Q67.6 Pectus excavatum
0.000 0.992 0.008
Q76.4 Other congenital malformations of spine, not associated with scoliosis
0.000 0.992 0.008
O28.3 Abnormal ultrasonic finding on antenatal screening of mother
0.008 0.992 0.000
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
Q43.8 Other specified congenital malformations of intestine
0.000 0.992 0.008
Q76.5 Cervical rib
0.000 0.992 0.008
Q45.3 Other congenital malformations of pancreas and pancreatic duct
0.000 0.992 0.008
O22.0 Varicose veins of lower extremity in pregnancy
0.008 0.992 0.000
Q87.1 Congenital malformation syndromes predominantly associated with short stature
0.000 0.992 0.008
K72.9 Hepatic failure, unspecified
0.000 0.992 0.008
Q41.9 Congenital absence, atresia and stenosis of small intestine, part unspecified
0.000 0.992 0.008
Q41.8 Congenital absence, atresia and stenosis of other specified parts of small intestine
0.000 0.992 0.008
Q41.2 Congenital absence, atresia and stenosis of ileum
0.000 0.992 0.008
Q41.1 Congenital absence, atresia and stenosis of jejunum
0.000 0.992 0.008
Q41.0 Congenital absence, atresia and stenosis of duodenum
0.000 0.992 0.008
Q42.9 Congenital absence, atresia and stenosis of large intestine, part unspecified
0.000 0.992 0.008
Q42.8 Congenital absence, atresia and stenosis of other parts of large intestine
0.000 0.992 0.008
Q42.3 Congenital absence, atresia and stenosis of anus without fistula
0.000 0.992 0.008
Q42.2 Congenital absence, atresia and stenosis of anus with fistula
0.000 0.992 0.008
Q42.1 Congenital absence, atresia and stenosis of rectum without fistula
0.000 0.992 0.008
Q42.0 Congenital absence, atresia and stenosis of rectum with fistula
0.000 0.992 0.008
Q65.9 Congenital deformity of hip, unspecified
0.000 0.992 0.008
Q65.6 Unstable hip
0.000 0.992 0.008
Q65.5 Congenital subluxation of hip, unspecified
0.000 0.992 0.008
Q65.4 Congenital subluxation of hip, bilateral
0.000 0.992 0.008
Q65.3 Congenital subluxation of hip, unilateral
0.000 0.992 0.008
Q65.2 Congenital dislocation of hip, unspecified
0.000 0.992 0.008
Q65.1 Congenital dislocation of hip, bilateral
0.000 0.992 0.008
Q38.6 Other congenital malformations of mouth
0.000 0.992 0.008
Q44.4 Choledochal cyst
0.000 0.992 0.008
Q11.1 Other anophthalmos
0.000 0.992 0.007
Q50 Congenital malformations of ovaries, Fallopian tubes and broad ligaments
0.000 0.992 0.008
O28.8 Other abnormal findings on antenatal screening of mother
0.008 0.992 0.000
O28.5 Abnormal chromosomal and genetic finding on antenatal screening of mother
0.008 0.992 0.000
O28.4 Abnormal radiological finding on antenatal screening of mother
0.008 0.992 0.000
O28.2 Abnormal cytological finding on antenatal screening of mother
0.008 0.992 0.000
Q64.3 Other atresia and stenosis of urethra and bladder neck
0.000 0.992 0.008
Q66.7 Pes cavus
0.000 0.992 0.008
Q45.9 Congenital malformation of digestive system, unspecified
0.000 0.992 0.007
Q45.2 Congenital pancreatic cyst
0.000 0.992 0.007
Q45.1 Annular pancreas
0.000 0.992 0.007
Q45.0 Agenesis, aplasia and hypoplasia of pancreas
0.000 0.992 0.007
O28.9 Abnormal finding on antenatal screening of mother, unspecified
0.007 0.992 0.000
Q65.0 Congenital dislocation of hip, unilateral
0.000 0.992 0.007
Q68.8 Other specified congenital musculoskeletal deformities
0.000 0.993 0.007
Q68.5 Congenital bowing of long bones of leg, unspecified
0.000 0.993 0.007
Q68.4 Congenital bowing of tibia and fibula
0.000 0.993 0.007
Q68.3 Congenital bowing of femur
0.000 0.993 0.007
Q68.2 Congenital deformity of knee
0.000 0.993 0.007
Q68.1 Congenital deformity of hand
0.000 0.993 0.007
Q68.0 Congenital deformity of sternocleidomastoid muscle
0.000 0.993 0.007
Q69.9 Polydactyly, unspecified
0.000 0.993 0.007
Q69.2 Accessory toe(s)
0.000 0.993 0.007
Q69.1 Accessory thumb(s)
0.000 0.993 0.007
Q69.0 Accessory finger(s)
0.000 0.993 0.007
Q71.9 Reduction defect of upper limb, unspecified
0.000 0.993 0.007
Q71.8 Other reduction defects of upper limb(s)
0.000 0.993 0.007
Q71.6 Lobster-claw hand
0.000 0.993 0.007
Q71.5 Longitudinal reduction defect of ulna
0.000 0.993 0.007
Q71.4 Longitudinal reduction defect of radius
0.000 0.993 0.007
Q71.3 Congenital absence of hand and finger(s)
0.000 0.993 0.007
Q71.2 Congenital absence of both forearm and hand
0.000 0.993 0.007
Q71.1 Congenital absence of upper arm and forearm with hand present
0.000 0.993 0.007
Q71.0 Congenital complete absence of upper limb(s)
0.000 0.993 0.007
Q72.9 Reduction defect of lower limb, unspecified
0.000 0.993 0.007
Q72.8 Other reduction defects of lower limb(s)
0.000 0.993 0.007
Q72.7 Split foot
0.000 0.993 0.007
Q72.6 Longitudinal reduction defect of fibula
0.000 0.993 0.007
Q72.5 Longitudinal reduction defect of tibia
0.000 0.993 0.007
Q72.4 Longitudinal reduction defect of femur
0.000 0.993 0.007
Q72.3 Congenital absence of foot and toe(s)
0.000 0.993 0.007
Q72.2 Congenital absence of both lower leg and foot
0.000 0.993 0.007
Q72.1 Congenital absence of thigh and lower leg with foot present
0.000 0.993 0.007
Q72.0 Congenital complete absence of lower limb(s)
0.000 0.993 0.007
Q73.8 Other reduction defects of unspecified limb(s)
0.000 0.993 0.007
Q73.1 Phocomelia, unspecified limb(s)
0.000 0.993 0.007
Q73.0 Congenital absence of unspecified limb(s)
0.000 0.993 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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