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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

rs9526114
log Bayes Factor = 0.0297745
Chromosome 13   position 46,408,037  (GRCh37) Explore rs9526114 on Ensembl!
Variant rs9526114 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
  
H72.0 Central perforation of tympanic membrane
0.000 0.786 0.214
H72.9 Perforation of tympanic membrane, unspecified
0.000 0.786 0.214
H72 Perforation of tympanic membrane
0.000 0.788 0.212
H72.1 Attic perforation of tympanic membrane
0.000 0.824 0.176
H72.8 Other perforations of tympanic membrane
0.000 0.834 0.166
H72.2 Other marginal perforations of tympanic membrane
0.000 0.882 0.118
H65-H75 Diseases of middle ear and mastoid
0.000 0.887 0.113
H71 Cholesteatoma of middle ear
0.000 0.899 0.101
H74 Other disorders of middle ear and mastoid
0.000 0.905 0.095
H66 Suppurative and unspecified otitis media
0.000 0.910 0.090
H68 Eustachian salpingitis and obstruction
0.000 0.916 0.084
H74.9 Disorder of middle ear and mastoid, unspecified
0.000 0.917 0.083
H74.8 Other specified disorders of middle ear and mastoid
0.000 0.917 0.083
H75 Other disorders of middle ear and mastoid in diseases classified elsewhere
0.000 0.919 0.081
H67 Otitis media in diseases classified elsewhere
0.000 0.919 0.081
H69 Other disorders of Eustachian tube
0.000 0.919 0.081
H70 Mastoiditis and related conditions
0.000 0.919 0.081
H66.3 Other chronic suppurative otitis media
0.000 0.925 0.075
H74.2 Discontinuity and dislocation of ear ossicles
0.000 0.925 0.075
H74.4 Polyp of middle ear
0.000 0.927 0.073
H69.9 Eustachian tube disorder, unspecified
0.000 0.929 0.070
H66.4 Suppurative otitis media, unspecified
0.000 0.930 0.070
H73 Other disorders of tympanic membrane
0.000 0.932 0.068
H66.1 Chronic tubotympanic suppurative otitis media
0.000 0.933 0.067
H66.0 Acute suppurative otitis media
0.000 0.934 0.066
H68.1 Obstruction of Eustachian tube
0.000 0.936 0.064
H70.9 Mastoiditis, unspecified
0.000 0.938 0.062
H66.2 Chronic atticoantral suppurative otitis media
0.000 0.938 0.062
H68.0 Eustachian salpingitis
0.000 0.939 0.061
H74.3 Other acquired abnormalities of ear ossicles
0.000 0.940 0.060
H70.0 Acute mastoiditis
0.000 0.941 0.059
H67.8 Otitis media in other diseases classified elsewhere
0.000 0.941 0.058
H67.1 Otitis media in viral diseases classified elsewhere
0.000 0.941 0.058
H67.0 Otitis media in bacterial diseases classified elsewhere
0.000 0.941 0.058
H75.8 Other specified disorders of middle ear and mastoid in diseases classified elsewhere
0.000 0.941 0.058
H75.0 Mastoiditis in infectious and parasitic diseases classified elsewhere
0.000 0.941 0.058
H69.0 Patulous Eustachian tube
0.000 0.941 0.058
H70.2 Petrositis
0.000 0.942 0.058
H70.1 Chronic mastoiditis
0.000 0.942 0.058
J32.9 Chronic sinusitis, unspecified
0.000 0.944 0.056
H74.1 Adhesive middle ear disease
0.000 0.946 0.054
H73.9 Disorder of tympanic membrane, unspecified
0.000 0.949 0.051
H70.8 Other mastoiditis and related conditions
0.000 0.949 0.050
H73.1 Chronic myringitis
0.000 0.951 0.049
H73.0 Acute myringitis
0.000 0.951 0.049
H66.9 Otitis media, unspecified
0.000 0.951 0.049
H74.0 Tympanosclerosis
0.000 0.955 0.044
H69.8 Other specified disorders of Eustachian tube
0.000 0.966 0.034
H73.8 Other specified disorders of tympanic membrane
0.000 0.968 0.032
H65 Nonsuppurative otitis media
0.000 0.984 0.016
H65.0 Acute serous otitis media
0.000 0.987 0.013
H65.1 Other acute nonsuppurative otitis media
0.000 0.988 0.012
R60.0 Localised oedema
0.000 0.988 0.012
N89.8 Other specified noninflammatory disorders of vagina
0.000 0.989 0.011
H65.2 Chronic serous otitis media
0.000 0.990 0.010
T51.0 Ethanol
0.000 0.990 0.010
Q61 Cystic kidney disease
0.010 0.990 0.000
Q60-Q64 Congenital malformations of the urinary system
0.009 0.991 0.000
Q62 Congenital obstructive defects of renal pelvis and congenital malformations of ureter
0.009 0.991 0.000
Q61.3 Polycystic kidney, unspecified
0.009 0.991 0.000
Q61.2 Polycystic kidney, adult type
0.009 0.991 0.000
N89 Other noninflammatory disorders of vagina
0.000 0.991 0.009
I24.8 Other forms of acute ischaemic heart disease
0.000 0.991 0.009
Q62.5 Duplication of ureter
0.009 0.991 0.000
N89.5 Stricture and atresia of vagina
0.000 0.992 0.008
Q61.4 Renal dysplasia
0.008 0.992 0.000
Q62.2 Congenital megaloureter
0.008 0.992 0.000
Q38-Q45 Other congenital malformations of the digestive system
0.008 0.992 0.000
Chapter XVII Congenital malformations, deformations and chromosomal abnormalities
0.007 0.993 0.000
Q61.9 Cystic kidney disease, unspecified
0.007 0.993 0.000
D12.7 Rectosigmoid junction
0.000 0.993 0.007
N89.6 Tight hymenal ring
0.000 0.993 0.007
Q61.8 Other cystic kidney diseases
0.007 0.993 0.000
Q61.1 Polycystic kidney, infantile type
0.007 0.993 0.000
Q61.0 Congenital single renal cyst
0.007 0.993 0.000
Q10-Q18 Congenital malformations of eye, ear, face and neck
0.007 0.993 0.000
N89.9 Noninflammatory disorder of vagina, unspecified
0.000 0.993 0.007
T51 Toxic effect of alcohol
0.000 0.993 0.007
N89.3 Dysplasia of vagina, unspecified
0.000 0.993 0.007
Q60 Renal agenesis and other reduction defects of kidney
0.007 0.993 0.000
Q63 Other congenital malformations of kidney
0.007 0.993 0.000
Q43 Other congenital malformations of intestine
0.007 0.993 0.000
Q62.8 Other congenital malformations of ureter
0.007 0.993 0.000
Q62.7 Congenital vesico-uretero-renal reflux
0.007 0.993 0.000
Q62.6 Malposition of ureter
0.007 0.993 0.000
Q62.4 Agenesis of ureter
0.007 0.993 0.000
Q62.3 Other obstructive defects of renal pelvis and ureter
0.007 0.993 0.000
Q62.1 Atresia and stenosis of ureter
0.007 0.993 0.000
Q62.0 Congenital hydronephrosis
0.007 0.993 0.000
Q61.5 Medullary cystic kidney
0.007 0.993 0.000
Q64 Other congenital malformations of urinary system
0.007 0.993 0.000
Q90-Q99 Chromosomal abnormalities, not elsewhere classified
0.007 0.993 0.000
G81.9 Hemiplegia, unspecified
0.000 0.993 0.007
K13.0 Diseases of lips
0.007 0.993 0.000
Q40 Other congenital malformations of upper alimentary tract
0.007 0.993 0.000
Chapter VIII Diseases of the ear and mastoid process
0.000 0.993 0.007
N89.7 Haematocolpos
0.000 0.993 0.006
N89.4 Leukoplakia of vagina
0.000 0.993 0.006
N89.2 Severe vaginal dysplasia, not elsewhere classified
0.000 0.993 0.006
N89.0 Mild vaginal dysplasia
0.000 0.994 0.006
Q27 Other congenital malformations of peripheral vascular system
0.006 0.994 0.000
T51.9 Alcohol, unspecified
0.000 0.994 0.006
Q00-Q07 Congenital malformations of the nervous system
0.006 0.994 0.000
Q20-Q28 Congenital malformations of the circulatory system
0.006 0.994 0.000
Q43.0 Meckel's diverticulum
0.006 0.994 0.000
E78.9 Disorder of lipoprotein metabolism, unspecified
0.006 0.994 0.000
Q38 Other congenital malformations of tongue, mouth and pharynx
0.006 0.994 0.000
Q27.3 Peripheral arteriovenous malformation
0.006 0.994 0.000
Q18 Other congenital malformations of face and neck
0.006 0.994 0.000
Q14 Congenital malformations of posterior segment of eye
0.006 0.994 0.000
Q90 Down's syndrome
0.006 0.994 0.000
Q12 Congenital lens malformations
0.006 0.994 0.000
Q43.9 Congenital malformation of intestine, unspecified
0.006 0.994 0.000
Q98 Other sex chromosome abnormalities, male phenotype, not elsewhere classified
0.006 0.994 0.000
Q28.2 Arteriovenous malformation of cerebral vessels
0.006 0.994 0.000
Q44 Congenital malformations of gallbladder, bile ducts and liver
0.006 0.994 0.000
Q35-Q37 Cleft lip and cleft palate
0.006 0.994 0.000
N89.1 Moderate vaginal dysplasia
0.000 0.994 0.006
Q40.1 Congenital hiatus hernia
0.006 0.994 0.000
Q63.8 Other specified congenital malformations of kidney
0.006 0.994 0.000
Q43.1 Hirschsprung's disease
0.006 0.994 0.000
Q28 Other congenital malformations of circulatory system
0.006 0.994 0.000
Q42 Congenital absence, atresia and stenosis of large intestine
0.006 0.994 0.000
Q41 Congenital absence, atresia and stenosis of small intestine
0.006 0.994 0.000
Q40.8 Other specified congenital malformations of upper alimentary tract
0.006 0.994 0.000
Q45 Other congenital malformations of digestive system
0.006 0.994 0.000
Q63.2 Ectopic kidney
0.005 0.994 0.000
Q90.9 Down's syndrome, unspecified
0.005 0.994 0.000
Q15 Other congenital malformations of eye
0.005 0.994 0.000
Q11 Anophthalmos, microphthalmos and macrophthalmos
0.005 0.994 0.000
Q27.9 Congenital malformation of peripheral vascular system, unspecified
0.005 0.994 0.000
S51.0 Open wound of elbow
0.000 0.994 0.006
Q10 Congenital malformations of eyelid, lachrymal apparatus and orbit
0.005 0.994 0.000
Q18.1 Preauricular sinus and cyst
0.005 0.995 0.000
Q98.4 Klinefelter's syndrome, unspecified
0.005 0.995 0.000
Q39 Congenital malformations of oesophagus
0.005 0.995 0.000
Q40.3 Congenital malformation of stomach, unspecified
0.005 0.995 0.000
Q63.9 Congenital malformation of kidney, unspecified
0.005 0.995 0.000
Q03 Congenital hydrocephalus
0.005 0.995 0.000
Q16 Congenital malformations of ear causing impairment of hearing
0.005 0.995 0.000
Q13 Congenital malformations of anterior segment of eye
0.005 0.995 0.000
Q60.2 Renal agenesis, unspecified
0.005 0.995 0.000
T51.8 Other alcohols
0.000 0.995 0.005
T51.3 Fusel oil
0.000 0.995 0.005
T51.2 2-Propanol
0.000 0.995 0.005
T51.1 Methanol
0.000 0.995 0.005
Q30-Q34 Congenital malformations of the respiratory system
0.005 0.995 0.000
Q60.6 Potter's syndrome
0.005 0.995 0.000
Q60.5 Renal hypoplasia, unspecified
0.005 0.995 0.000
Q60.4 Renal hypoplasia, bilateral
0.005 0.995 0.000
Q60.3 Renal hypoplasia, unilateral
0.005 0.995 0.000
Q60.1 Renal agenesis, bilateral
0.005 0.995 0.000
Q17 Other congenital malformations of ear
0.005 0.995 0.000
H65.4 Other chronic nonsuppurative otitis media
0.000 0.995 0.005
Q64.4 Malformation of urachus
0.005 0.995 0.000
Q63.3 Hyperplastic and giant kidney
0.005 0.995 0.000
Q64.7 Other congenital malformations of bladder and urethra
0.005 0.995 0.000
Q07 Other congenital malformations of nervous system
0.005 0.995 0.000
Q14.1 Congenital malformation of retina
0.005 0.995 0.000
Q43.7 Persistent cloaca
0.005 0.995 0.000
Q43.6 Congenital fistula of rectum and anus
0.005 0.995 0.000
Q43.5 Ectopic anus
0.005 0.995 0.000
Q43.4 Duplication of intestine
0.005 0.995 0.000
Q43.2 Other congenital functional disorders of colon
0.005 0.995 0.000
Q60.0 Renal agenesis, unilateral
0.005 0.995 0.000
Q12.0 Congenital cataract
0.005 0.995 0.000
Q38.6 Other congenital malformations of mouth
0.005 0.995 0.000
Q97 Other sex chromosome abnormalities, female phenotype, not elsewhere classified
0.005 0.995 0.000
Q95 Balanced rearrangements and structural markers, not elsewhere classified
0.005 0.995 0.000
Q93 Monosomies and deletions from the autosomes, not elsewhere classified
0.005 0.995 0.000
Q92 Other trisomies and partial trisomies of the autosomes, not elsewhere classified
0.005 0.995 0.000
Q91 Edwards' syndrome and Patau's syndrome
0.005 0.995 0.000
Q64.9 Congenital malformation of urinary system, unspecified
0.005 0.995 0.000
Q64.8 Other specified congenital malformations of urinary system
0.005 0.995 0.000
Q64.6 Congenital diverticulum of bladder
0.005 0.995 0.000
Q64.5 Congenital absence of bladder and urethra
0.005 0.995 0.000
Q64.2 Congenital posterior urethral valves
0.005 0.995 0.000
Q64.1 Exstrophy of urinary bladder
0.005 0.995 0.000
Q64.0 Epispadias
0.005 0.995 0.000
Q04 Other congenital malformations of brain
0.005 0.995 0.000
Q99 Other chromosome abnormalities, not elsewhere classified
0.005 0.995 0.000
Q27.8 Other specified congenital malformations of peripheral vascular system
0.005 0.995 0.000
Q40.9 Congenital malformation of upper alimentary tract, unspecified
0.005 0.995 0.000
Q40.0 Congenital hypertrophic pyloric stenosis
0.005 0.995 0.000
O87.2 Haemorrhoids in the puerperium
0.000 0.995 0.005
S52.30 Fracture of shaft of radius (closed)
0.000 0.995 0.005
Q38.1 Ankyloglossia
0.005 0.995 0.000
Q43.8 Other specified congenital malformations of intestine
0.005 0.995 0.000
S51 Open wound of forearm
0.000 0.995 0.005
D52.9 Folate deficiency anaemia, unspecified
0.000 0.995 0.005
R72 Abnormality of white blood cells, not elsewhere classified
0.005 0.995 0.000
Q25 Congenital malformations of great arteries
0.005 0.995 0.000
Q03.0 Malformations of aqueduct of Sylvius
0.005 0.995 0.000
Q27.4 Congenital phlebectasia
0.005 0.995 0.000
Q27.2 Other congenital malformations of renal artery
0.005 0.995 0.000
Q27.1 Congenital renal artery stenosis
0.005 0.995 0.000
Q27.0 Congenital absence and hypoplasia of umbilical artery
0.005 0.995 0.000
Q44.6 Cystic disease of liver
0.005 0.995 0.000
Q24 Other congenital malformations of heart
0.005 0.995 0.000
K26.5 Chronic or unspecified with perforation
0.000 0.995 0.005
S51.8 Open wound of other parts of forearm
0.000 0.995 0.005
Q06 Other congenital malformations of spinal cord
0.005 0.995 0.000
Q01 Encephalocele
0.005 0.995 0.000
Q00 Anencephaly and similar malformations
0.005 0.995 0.000
Q02 Microcephaly
0.005 0.995 0.000
Q63.0 Accessory kidney
0.005 0.995 0.000
Q26 Congenital malformations of great veins
0.005 0.995 0.000
Q20 Congenital malformations of cardiac chambers and connexions
0.005 0.995 0.000
Q50-Q56 Congenital malformations of genital organs
0.005 0.995 0.000
Q38.8 Other congenital malformations of pharynx
0.005 0.995 0.000
Q38.5 Congenital malformations of palate, not elsewhere classified
0.005 0.995 0.000
Q38.4 Congenital malformations of salivary glands and ducts
0.005 0.995 0.000
Q38.3 Other congenital malformations of tongue
0.005 0.995 0.000
Q38.2 Macroglossia
0.005 0.995 0.000
Q37 Cleft palate with cleft lip
0.005 0.995 0.000
Q96 Turner's syndrome
0.004 0.995 0.000
Q38.0 Congenital malformations of lips, not elsewhere classified
0.005 0.995 0.000
Q18.9 Congenital malformation of face and neck, unspecified
0.004 0.995 0.000
Q18.8 Other specified congenital malformations of face and neck
0.004 0.995 0.000
Q18.7 Microcheilia
0.004 0.995 0.000
Q18.6 Macrocheilia
0.004 0.995 0.000
Q18.5 Microstomia
0.004 0.995 0.000
Q18.4 Macrostomia
0.004 0.995 0.000
Q18.3 Webbing of neck
0.004 0.995 0.000
Q18.2 Other branchial cleft malformations
0.004 0.995 0.000
Q40.2 Other specified congenital malformations of stomach
0.004 0.995 0.000
Q44.7 Other congenital malformations of liver
0.004 0.995 0.000
Q39.4 Oesophageal web
0.004 0.995 0.000
Q12.9 Congenital lens malformation, unspecified
0.004 0.995 0.000
Q12.8 Other congenital lens malformations
0.004 0.995 0.000
Q12.4 Spherophakia
0.004 0.995 0.000
Q12.3 Congenital aphakia
0.004 0.995 0.000
Q12.2 Coloboma of lens
0.004 0.995 0.000
Q12.1 Congenital displaced lens
0.004 0.995 0.000
Q14.9 Congenital malformation of posterior segment of eye, unspecified
0.004 0.995 0.000
Q14.8 Other congenital malformations of posterior segment of eye
0.004 0.995 0.000
Q14.3 Congenital malformation of choroid
0.004 0.995 0.000
Q14.2 Congenital malformation of optic disk
0.004 0.995 0.000
Q14.0 Congenital malformation of vitreous humour
0.004 0.995 0.000
Q90.2 Trisomy 21, translocation
0.004 0.995 0.000
Q90.1 Trisomy 21, mosaicism (mitotic nondisjunction)
0.004 0.995 0.000
Q90.0 Trisomy 21, meiotic nondisjunction
0.004 0.995 0.000
Q98.9 Sex chromosome abnormality, male phenotype, unspecified
0.004 0.995 0.000
Q98.8 Other specified sex chromosome abnormalities, male phenotype
0.004 0.995 0.000
Q98.7 Male with sex chromosome mosaicism
0.004 0.995 0.000
Q98.6 Male with structurally abnormal sex chromosome
0.004 0.995 0.000
Q98.5 Karyotype 47,XYY
0.004 0.995 0.000
Q98.3 Other male with 46,XX karyotype
0.004 0.995 0.000
Q98.2 Klinefelter's syndrome, male with 46,XX karyotype
0.004 0.995 0.000
Q98.1 Klinefelter's syndrome, male with more than two X chromosomes
0.004 0.995 0.000
Q98.0 Klinefelter's syndrome karyotype 47,XXY
0.004 0.995 0.000
Q07.0 Arnold-Chiari syndrome
0.004 0.995 0.000
Q44.3 Congenital stenosis and stricture of bile ducts
0.004 0.995 0.000
Q44.2 Atresia of bile ducts
0.004 0.995 0.000
Q44.1 Other congenital malformations of gallbladder
0.004 0.995 0.000
Q44.0 Agenesis, aplasia and hypoplasia of gallbladder
0.004 0.995 0.000
Q36 Cleft lip
0.004 0.996 0.000
Q35 Cleft palate
0.004 0.996 0.000
Q04.6 Congenital cerebral cysts
0.004 0.996 0.000
Q64.3 Other atresia and stenosis of urethra and bladder neck
0.004 0.996 0.000
Q44.5 Other congenital malformations of bile ducts
0.004 0.996 0.000
K80.4 Calculus of bile duct with cholecystitis
0.004 0.996 0.000
N05.9 Unspecified
0.000 0.996 0.004
Q28.9 Congenital malformation of circulatory system, unspecified
0.004 0.996 0.000
Q28.8 Other specified congenital malformations of circulatory system
0.004 0.996 0.000
Q28.1 Other malformations of precerebral vessels
0.004 0.996 0.000
S62.00 Fracture of navicular [scaphoid] bone of hand (closed)
0.000 0.996 0.004
Q18.0 Sinus, fistula and cyst of branchial cleft
0.004 0.996 0.000
Q41.9 Congenital absence, atresia and stenosis of small intestine, part unspecified
0.004 0.996 0.000
Q41.8 Congenital absence, atresia and stenosis of other specified parts of small intestine
0.004 0.996 0.000
Q41.2 Congenital absence, atresia and stenosis of ileum
0.004 0.996 0.000
Q41.1 Congenital absence, atresia and stenosis of jejunum
0.004 0.996 0.000
Q41.0 Congenital absence, atresia and stenosis of duodenum
0.004 0.996 0.000
Q42.9 Congenital absence, atresia and stenosis of large intestine, part unspecified
0.004 0.996 0.000
Q42.8 Congenital absence, atresia and stenosis of other parts of large intestine
0.004 0.996 0.000
Q42.3 Congenital absence, atresia and stenosis of anus without fistula
0.004 0.996 0.000
Q42.2 Congenital absence, atresia and stenosis of anus with fistula
0.004 0.996 0.000
Q42.1 Congenital absence, atresia and stenosis of rectum without fistula
0.004 0.996 0.000
Q42.0 Congenital absence, atresia and stenosis of rectum with fistula
0.004 0.996 0.000
Q28.3 Other malformations of cerebral vessels
0.004 0.996 0.000
Q55 Other congenital malformations of male genital organs
0.004 0.996 0.000
Q11.1 Other anophthalmos
0.004 0.996 0.000
Q15.0 Congenital glaucoma
0.004 0.996 0.000
Q38.7 Pharyngeal pouch
0.004 0.996 0.000
Q10.0 Congenital ptosis
0.004 0.996 0.000
C18.2 Ascending colon
0.000 0.996 0.004
Q45.9 Congenital malformation of digestive system, unspecified
0.004 0.996 0.000
Q45.2 Congenital pancreatic cyst
0.004 0.996 0.000
Q45.1 Annular pancreas
0.004 0.996 0.000
Q45.0 Agenesis, aplasia and hypoplasia of pancreas
0.004 0.996 0.000
S51.7 Multiple open wounds of forearm
0.000 0.996 0.004
Q45.3 Other congenital malformations of pancreas and pancreatic duct
0.004 0.996 0.000
Q51 Congenital malformations of uterus and cervix
0.004 0.996 0.000
H65.3 Chronic mucoid otitis media
0.000 0.996 0.004
R16.1 Splenomegaly, not elsewhere classified
0.004 0.996 0.000
Q11.3 Macrophthalmos
0.004 0.996 0.000
Q11.2 Microphthalmos
0.004 0.996 0.000
Q11.0 Cystic eyeball
0.004 0.996 0.000
Q15.9 Congenital malformation of eye, unspecified
0.004 0.996 0.000
Q15.8 Other specified congenital malformations of eye
0.004 0.996 0.000
N80.1 Endometriosis of ovary
0.004 0.996 0.000
Q10.7 Congenital malformation of orbit
0.004 0.996 0.000
Q10.6 Other congenital malformations of lachrymal apparatus
0.004 0.996 0.000
Q10.5 Congenital stenosis and stricture of lachrymal duct
0.004 0.996 0.000
Q10.4 Absence and agenesis of lachrymal apparatus
0.004 0.996 0.000
Q10.3 Other congenital malformations of eyelid
0.004 0.996 0.000
Q10.2 Congenital entropion
0.004 0.996 0.000
Q10.1 Congenital ectropion
0.004 0.996 0.000
Q45.8 Other specified congenital malformations of digestive system
0.004 0.996 0.000
Q63.1 Lobulated, fused and horseshoe kidney
0.004 0.996 0.000
T93.3 Sequelae of dislocation, sprain and strain of lower limb
0.000 0.996 0.004
Q03.9 Congenital hydrocephalus, unspecified
0.004 0.996 0.000
Q03.8 Other congenital hydrocephalus
0.004 0.996 0.000
Q03.1 Atresia of foramina of Magendie and Luschka
0.004 0.996 0.000
Q13.9 Congenital malformation of anterior segment of eye, unspecified
0.004 0.996 0.000
Q13.8 Other congenital malformations of anterior segment of eye
0.004 0.996 0.000
Q13.5 Blue sclera
0.004 0.996 0.000
Q13.4 Other congenital corneal malformations
0.004 0.996 0.000
Q13.3 Congenital corneal opacity
0.004 0.996 0.000
Q13.2 Other congenital malformations of iris
0.004 0.996 0.000
Q13.1 Absence of iris
0.004 0.996 0.000
Q13.0 Coloboma of iris
0.004 0.996 0.000
Q16.9 Congenital malformation of ear causing impairment of hearing, unspecified
0.004 0.996 0.000
Q16.5 Congenital malformation of inner ear
0.004 0.996 0.000
Q16.4 Other congenital malformations of middle ear
0.004 0.996 0.000
Q16.3 Congenital malformation of ear ossicles
0.004 0.996 0.000
Q16.2 Absence of eustachian tube
0.004 0.996 0.000
Q16.1 Congenital absence, atresia and stricture of auditory canal (external)
0.004 0.996 0.000
Q16.0 Congenital absence of (ear) auricle
0.004 0.996 0.000
Q24.5 Malformation of coronary vessels
0.004 0.996 0.000
Q39.9 Congenital malformation of oesophagus, unspecified
0.004 0.996 0.000
Q39.8 Other congenital malformations of oesophagus
0.004 0.996 0.000
Q39.5 Congenital dilatation of oesophagus
0.004 0.996 0.000
Q39.3 Congenital stenosis and stricture of oesophagus
0.004 0.996 0.000
Q39.2 Congenital tracheooesophageal fistula without atresia
0.004 0.996 0.000
Q39.1 Atresia of oesophagus with tracheooesophageal fistula
0.004 0.996 0.000
Q39.0 Atresia of oesophagus without fistula
0.004 0.996 0.000
Q34 Other congenital malformations of respiratory system
0.004 0.996 0.000
Q33 Congenital malformations of lung
0.004 0.996 0.000
Q32 Congenital malformations of trachea and bronchus
0.004 0.996 0.000
Q30 Congenital malformations of nose
0.004 0.996 0.000
Q43.3 Congenital malformations of intestinal fixation
0.004 0.996 0.000
Q44.4 Choledochal cyst
0.004 0.996 0.000
Q55.2 Other congenital malformations of testis and scrotum
0.004 0.996 0.000
J32 Chronic sinusitis
0.000 0.996 0.004
Q17.9 Congenital malformation of ear, unspecified
0.004 0.996 0.000
Q17.8 Other specified congenital malformations of ear
0.004 0.996 0.000
Q17.4 Misplaced ear
0.004 0.996 0.000
Q17.3 Other misshapen ear
0.004 0.996 0.000
Q17.2 Microtia
0.004 0.996 0.000
Q17.1 Macrotia
0.004 0.996 0.000
Q17.0 Accessory auricle
0.004 0.996 0.000
Q22 Congenital malformations of pulmonary and tricuspid valves
0.004 0.996 0.000
Q07.9 Congenital malformation of nervous system, unspecified
0.004 0.996 0.000
Q25.3 Stenosis of aorta
0.004 0.996 0.000
Q25.4 Other congenital malformations of aorta
0.004 0.996 0.000
Q07.8 Other specified congenital malformations of nervous system
0.004 0.996 0.000
Q17.5 Prominent ear
0.004 0.996 0.000
Q24.9 Congenital malformation of the heart, unspecified
0.004 0.996 0.000
Q25.1 Coarctation of aorta
0.004 0.996 0.000
Q91.7 Patau's syndrome, unspecified
0.004 0.996 0.000
Q91.6 Trisomy 13, translocation
0.004 0.996 0.000
Q91.5 Trisomy 13, mosaicism (mitotic nondisjunction)
0.004 0.996 0.000
Q91.4 Trisomy 13, meiotic nondisjunction
0.004 0.996 0.000
Q91.3 Edwards' syndrome, unspecified
0.004 0.996 0.000
Q91.2 Trisomy 18, translocation
0.004 0.996 0.000
Q91.1 Trisomy 18, mosaicism (mitotic nondisjunction)
0.004 0.996 0.000
Q91.0 Trisomy 18, meiotic nondisjunction
0.004 0.996 0.000
Q92.9 Trisomy and partial trisomy of autosomes, unspecified
0.004 0.996 0.000
Q92.8 Other specified trisomies and partial trisomies of autosomes
0.004 0.996 0.000
Q92.7 Triploidy and polyploidy
0.004 0.996 0.000
Q92.6 Extra marker chromosomes
0.004 0.996 0.000
Q92.5 Duplications with other complex rearrangements
0.004 0.996 0.000
Q92.4 Duplications seen only at prometaphase
0.004 0.996 0.000
Q92.3 Minor partial trisomy
0.004 0.996 0.000
Q92.2 Major partial trisomy
0.004 0.996 0.000
Q92.1 Whole chromosome trisomy, mosaicism (mitotic nondisjunction)
0.004 0.996 0.000
Q92.0 Whole chromosome trisomy, meiotic nondisjunction
0.004 0.996 0.000
Q93.9 Deletion from autosomes, unspecified
0.004 0.996 0.000
Q93.8 Other deletions from the autosomes
0.004 0.996 0.000
Q93.7 Deletions with other complex rearrangements
0.004 0.996 0.000
Q93.6 Deletions seen only at prometaphase
0.004 0.996 0.000
Q93.5 Other deletions of part of a chromosome
0.004 0.996 0.000
Q93.4 Deletion of short arm of chromosome 5
0.004 0.996 0.000
Q93.3 Deletion of short arm of chromosome 4
0.004 0.996 0.000
Q93.2 Chromosome replaced with ring or dicentric
0.004 0.996 0.000
Q93.1 Whole chromosome monosomy, mosaicism (mitotic nondisjunction)
0.004 0.996 0.000
Q93.0 Whole chromosome monosomy, meiotic nondisjunction
0.004 0.996 0.000
Q95.9 Balanced rearrangement and structural marker, unspecified
0.004 0.996 0.000
Q95.8 Other balanced rearrangements and structural markers
0.004 0.996 0.000
Q95.5 Individuals with autosomal fragile site
0.004 0.996 0.000
Q95.4 Individuals with marker heterochromatin
0.004 0.996 0.000
Q95.3 Balanced sex/autosomal rearrangement in abnormal individual
0.004 0.996 0.000
Q95.2 Balanced autosomal rearrangement in abnormal individual
0.004 0.996 0.000
Q95.1 Chromosome inversion in normal individual
0.004 0.996 0.000
Q95.0 Balanced translocation and insertion in normal individual
0.004 0.996 0.000
Q97.9 Sex chromosome abnormality, female phenotype, unspecified
0.004 0.996 0.000
Q97.8 Other specified sex chromosome abnormalities, female phenotype
0.004 0.996 0.000
Q97.3 Female with 46,XY karyotype
0.004 0.996 0.000
Q97.2 Mosaicism, lines with various numbers of X chromosomes
0.004 0.996 0.000
Q97.1 Female with more than three X chromosomes
0.004 0.996 0.000
Q97.0 Karyotype 47,XXX
0.004 0.996 0.000
Q04.9 Congenital malformation of brain, unspecified
0.004 0.996 0.000
Q04.5 Megalencephaly
0.004 0.996 0.000
Q04.4 Septo-optic dysplasia
0.004 0.996 0.000
Q04.3 Other reduction deformities of brain
0.004 0.996 0.000
Q04.2 Holoprosencephaly
0.004 0.996 0.000
Q04.1 Arhinencephaly
0.004 0.996 0.000
Q04.0 Congenital malformations of corpus callosum
0.004 0.996 0.000
Q99.9 Chromosomal abnormality, unspecified
0.004 0.996 0.000
Q99.2 Fragile X chromosome
0.004 0.996 0.000
Q99.1 46,XX true hermaphrodite
0.004 0.996 0.000
Q99.0 Chimera 46,XX/46,XY
0.004 0.996 0.000
Q24.0 Dextrocardia
0.004 0.996 0.000
Q31 Congenital malformations of larynx
0.004 0.996 0.000
Q99.8 Other specified chromosome abnormalities
0.004 0.996 0.000
Q25.0 Patent ductus arteriosus
0.004 0.996 0.000
Q37.9 Unspecified cleft palate with unilateral cleft lip
0.004 0.996 0.000
Q51.2 Other doubling of uterus
0.004 0.996 0.000
G96.0 Cerebrospinal fluid leak
0.000 0.996 0.004
Q51.4 Unicornate uterus
0.004 0.996 0.000
Q25.9 Congenital malformation of great arteries, unspecified
0.004 0.996 0.000
Q25.8 Other congenital malformations of great arteries
0.004 0.996 0.000
Q25.5 Atresia of pulmonary artery
0.004 0.996 0.000
Q25.2 Atresia of aorta
0.004 0.996 0.000
Q04.8 Other specified congenital malformations of brain
0.004 0.996 0.000
S52.3 Fracture of shaft of radius
0.000 0.996 0.004
N02.8 Other
0.004 0.996 0.000
Q24.4 Congenital subaortic stenosis
0.004 0.996 0.000
Q24.3 Pulmonary infundibular stenosis
0.004 0.996 0.000
Q24.2 Cor triatriatum
0.004 0.996 0.000
Q24.1 Levocardia
0.004 0.996 0.000
Q28.0 Arteriovenous malformation of precerebral vessels
0.003 0.996 0.000
Q00.2 Iniencephaly
0.003 0.996 0.000
Q00.1 Craniorachischisis
0.003 0.996 0.000
Q00.0 Anencephaly
0.003 0.996 0.000
Q01.9 Encephalocele, unspecified
0.003 0.996 0.000
Q01.8 Encephalocele of other sites
0.003 0.996 0.000
Q01.2 Occipital encephalocele
0.003 0.996 0.000
Q01.1 Nasofrontal encephalocele
0.003 0.996 0.000
Q01.0 Frontal encephalocele
0.003 0.996 0.000
Q06.9 Congenital malformation of spinal cord, unspecified
0.003 0.996 0.000
Q06.8 Other specified congenital malformations of spinal cord
0.003 0.996 0.000
Q06.4 Hydromyelia
0.003 0.996 0.000
Q06.3 Other congenital cauda equina malformations
0.003 0.996 0.000
Q06.2 Diastematomyelia
0.003 0.996 0.000
Q06.1 Hypoplasia and dysplasia of spinal cord
0.003 0.996 0.000
Q06.0 Amyelia
0.003 0.996 0.000
H92 Otalgia and effusion of ear
0.000 0.996 0.004
Q20.9 Congenital malformation of cardiac chambers and connexions, unspecified
0.003 0.996 0.000
Q20.8 Other congenital malformations of cardiac chambers and connexions
0.003 0.996 0.000
Q20.6 Isomerism of atrial appendages
0.003 0.996 0.000
Q20.5 Discordant atrioventricular connexion
0.003 0.996 0.000
Q20.4 Double inlet ventricle
0.003 0.996 0.000
Q20.3 Discordant ventriculoarterial connexion
0.003 0.996 0.000
Q20.2 Double outlet left ventricle
0.003 0.996 0.000
Q20.1 Double outlet right ventricle
0.003 0.996 0.000
Q20.0 Common arterial trunk
0.003 0.996 0.000
Q26.9 Congenital malformation of great vein, unspecified
0.003 0.996 0.000
Q26.8 Other congenital malformations of great veins
0.003 0.996 0.000
Q26.6 Portal vein-hepatic artery fistula
0.003 0.996 0.000
Q26.5 Anomalous portal venous connexion
0.003 0.996 0.000
Q26.4 Anomalous pulmonary venous connexion, unspecified
0.003 0.996 0.000
Q26.3 Partial anomalous pulmonary venous connexion
0.003 0.996 0.000
Q26.2 Total anomalous pulmonary venous connexion
0.003 0.996 0.000
Q26.1 Persistent left superior vena cava
0.003 0.996 0.000
Q26.0 Congenital stenosis of vena cava
0.003 0.996 0.000
Q56 Indeterminate sex and pseudohermaphroditism
0.004 0.996 0.000
Q37.8 Unspecified cleft palate with bilateral cleft lip
0.003 0.996 0.000
Q37.5 Cleft hard and soft palate with unilateral cleft lip
0.003 0.996 0.000
Q37.4 Cleft hard and soft palate with bilateral cleft lip
0.003 0.996 0.000
Q37.3 Cleft soft palate with unilateral cleft lip
0.003 0.996 0.000
Q37.2 Cleft soft palate with bilateral cleft lip
0.003 0.996 0.000
Q37.1 Cleft hard palate with unilateral cleft lip
0.003 0.996 0.000
Q37.0 Cleft hard palate with bilateral cleft lip
0.003 0.996 0.000
Q96.8 Other variants of Turner's syndrome
0.003 0.996 0.000
Q96.4 Mosaicism, 45,X/other cell line(s) with abnormal sex chromosome
0.003 0.996 0.000
Q96.3 Mosaicism, 45,X/46,XX or XY
0.003 0.996 0.000
Q96.2 Karyotype 46,X with abnormal sex chromosome, except iso (Xq)
0.003 0.996 0.000
Q96.1 Karyotype 46,X iso (Xq)
0.003 0.996 0.000
Q96.0 Karyotype 45,X
0.003 0.996 0.000
H92.0 Otalgia
0.000 0.996 0.004
Q25.7 Other congenital malformations of pulmonary artery
0.003 0.996 0.000
Q55.4 Other congenital malformations of vas deferens, epididymis, seminal vesicles and prostate
0.003 0.996 0.000
S82.40 Fracture of fibula alone (closed)
0.000 0.996 0.004
S51.9 Open wound of forearm, part unspecified
0.000 0.996 0.004
H90-H95 Other disorders of ear
0.000 0.996 0.004
I98.2 Oesophageal varices in diseases classified elsewhere
0.003 0.996 0.000
Q05 Spina bifida
0.003 0.996 0.000
Q35.9 Cleft palate, unspecified
0.003 0.997 0.000
Q35.8 (Cleft palate, unspecified, bilateral)
0.003 0.997 0.000
Q35.7 Cleft uvula
0.003 0.997 0.000
Q35.6 Cleft palate, medial
0.003 0.997 0.000
Q35.5 Cleft hard palate with cleft soft palate
0.003 0.997 0.000
Q35.4 (Cleft hard palate with cleft soft palate, bilateral)
0.003 0.997 0.000
Q35.3 Cleft soft palate
0.003 0.997 0.000
Q35.2 (Cleft soft palate, bilateral)
0.003 0.997 0.000
Q35.1 Cleft hard palate
0.003 0.997 0.000
Q35.0 (Cleft hard palate, bilateral)
0.003 0.997 0.000
Q36.9 Cleft lip, unilateral
0.003 0.997 0.000

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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