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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

rs793834
log Bayes Factor = <0.0001
Chromosome 6   position 24,234,933  (GRCh37) Explore rs793834 on Ensembl!
Variant rs793834 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
  
M19.98 Arthrosis, unspecified (Other)
0.000 0.978 0.022
O68.0 Labour and delivery complicated by foetal heart rate anomaly
0.020 0.980 0.000
O68.1 Labour and delivery complicated by meconium in amniotic fluid
0.011 0.989 0.000
Q10-Q18 Congenital malformations of eye, ear, face and neck
0.000 0.989 0.011
Q12.0 Congenital cataract
0.000 0.989 0.011
Q12 Congenital lens malformations
0.000 0.989 0.010
Chapter XVII Congenital malformations, deformations and chromosomal abnormalities
0.000 0.990 0.010
O68 Labour and delivery complicated by foetal stress [distress]
0.010 0.990 0.000
Q50-Q56 Congenital malformations of genital organs
0.000 0.990 0.009
Q18 Other congenital malformations of face and neck
0.000 0.991 0.009
Q60-Q64 Congenital malformations of the urinary system
0.000 0.991 0.009
O68.3 Labour and delivery complicated by biochemical evidence of foetal stress
0.009 0.991 0.000
Q63 Other congenital malformations of kidney
0.000 0.991 0.009
Q54 Hypospadias
0.000 0.991 0.009
Q90-Q99 Chromosomal abnormalities, not elsewhere classified
0.000 0.991 0.009
Q35-Q37 Cleft lip and cleft palate
0.000 0.991 0.009
Q14 Congenital malformations of posterior segment of eye
0.000 0.991 0.008
Q63.0 Accessory kidney
0.000 0.992 0.008
Q11 Anophthalmos, microphthalmos and macrophthalmos
0.000 0.992 0.008
Q55 Other congenital malformations of male genital organs
0.000 0.992 0.008
Z30.5 Surveillance of (intra-uterine) contraceptive device
0.008 0.992 0.000
Q10 Congenital malformations of eyelid, lachrymal apparatus and orbit
0.000 0.992 0.008
K91.4 Colostomy and enterostomy malfunction
0.000 0.992 0.008
Q17 Other congenital malformations of ear
0.000 0.992 0.008
Q18.0 Sinus, fistula and cyst of branchial cleft
0.000 0.992 0.008
Q62 Congenital obstructive defects of renal pelvis and congenital malformations of ureter
0.000 0.992 0.008
Q16 Congenital malformations of ear causing impairment of hearing
0.000 0.992 0.008
Q13 Congenital malformations of anterior segment of eye
0.000 0.992 0.008
Q53 Undescended testicle
0.000 0.992 0.008
Q54.1 Hypospadias, penile
0.000 0.992 0.008
Q12.9 Congenital lens malformation, unspecified
0.000 0.992 0.008
Q12.8 Other congenital lens malformations
0.000 0.992 0.008
Q12.4 Spherophakia
0.000 0.992 0.008
Q12.3 Congenital aphakia
0.000 0.992 0.008
Q12.2 Coloboma of lens
0.000 0.992 0.008
Q12.1 Congenital displaced lens
0.000 0.992 0.008
Q18.1 Preauricular sinus and cyst
0.000 0.992 0.008
Q52 Other congenital malformations of female genitalia
0.000 0.992 0.007
Q63.2 Ectopic kidney
0.000 0.992 0.007
Q20-Q28 Congenital malformations of the circulatory system
0.000 0.993 0.007
Q54.9 Hypospadias, unspecified
0.000 0.993 0.007
Q37 Cleft palate with cleft lip
0.000 0.993 0.007
Q38-Q45 Other congenital malformations of the digestive system
0.000 0.993 0.007
Q15 Other congenital malformations of eye
0.000 0.993 0.007
Q23 Congenital malformations of aortic and mitral valves
0.000 0.993 0.007
Q99 Other chromosome abnormalities, not elsewhere classified
0.000 0.993 0.007
Q23.1 Congenital insufficiency of aortic valve
0.000 0.993 0.007
Q35 Cleft palate
0.000 0.993 0.007
Q98 Other sex chromosome abnormalities, male phenotype, not elsewhere classified
0.000 0.993 0.007
Q55.6 Other congenital malformations of penis
0.000 0.993 0.007
Q30-Q34 Congenital malformations of the respiratory system
0.000 0.993 0.007
Q56 Indeterminate sex and pseudohermaphroditism
0.000 0.993 0.007
Q63.9 Congenital malformation of kidney, unspecified
0.000 0.993 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
Q14.1 Congenital malformation of retina
0.000 0.993 0.007
Q00-Q07 Congenital malformations of the nervous system
0.000 0.993 0.007
Q62.5 Duplication of ureter
0.000 0.993 0.007
Q64 Other congenital malformations of urinary system
0.000 0.993 0.007
Q60 Renal agenesis and other reduction defects of kidney
0.000 0.993 0.007
Q90 Down's syndrome
0.000 0.993 0.007
Q52.4 Other congenital malformations of vagina
0.000 0.993 0.007
Q11.1 Other anophthalmos
0.000 0.993 0.007
Q50 Congenital malformations of ovaries, Fallopian tubes and broad ligaments
0.000 0.993 0.007
Q54.8 Other hypospadias
0.000 0.993 0.007
Q80-Q89 Other congenital malformations
0.000 0.993 0.007
Q53.9 Undescended testicle, unspecified
0.000 0.993 0.006
Q53.2 Undescended testicle, bilateral
0.000 0.993 0.006
Q63.3 Hyperplastic and giant kidney
0.000 0.993 0.006
Q54.4 Congenital chordee
0.000 0.993 0.006
Q54.3 Hypospadias, perineal
0.000 0.993 0.006
Q54.2 Hypospadias, penoscrotal
0.000 0.993 0.006
Q97 Other sex chromosome abnormalities, female phenotype, not elsewhere classified
0.000 0.993 0.006
Q95 Balanced rearrangements and structural markers, not elsewhere classified
0.000 0.993 0.006
Q93 Monosomies and deletions from the autosomes, not elsewhere classified
0.000 0.993 0.006
Q92 Other trisomies and partial trisomies of the autosomes, not elsewhere classified
0.000 0.993 0.006
Q91 Edwards' syndrome and Patau's syndrome
0.000 0.993 0.006
Q62.1 Atresia and stenosis of ureter
0.000 0.993 0.006
Q36 Cleft lip
0.000 0.993 0.006
Q37.9 Unspecified cleft palate with unilateral cleft lip
0.000 0.994 0.006
Q63.8 Other specified congenital malformations of kidney
0.000 0.994 0.006
N02.9 Unspecified
0.006 0.994 0.000
Q14.9 Congenital malformation of posterior segment of eye, unspecified
0.000 0.994 0.006
Q14.8 Other congenital malformations of posterior segment of eye
0.000 0.994 0.006
Q14.3 Congenital malformation of choroid
0.000 0.994 0.006
Q14.2 Congenital malformation of optic disk
0.000 0.994 0.006
Q14.0 Congenital malformation of vitreous humour
0.000 0.994 0.006
Q55.4 Other congenital malformations of vas deferens, epididymis, seminal vesicles and prostate
0.000 0.994 0.006
Q10.0 Congenital ptosis
0.000 0.994 0.006
Q99.8 Other specified chromosome abnormalities
0.000 0.994 0.006
Q96 Turner's syndrome
0.000 0.994 0.006
Q23.0 Congenital stenosis of aortic valve
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
Q62.2 Congenital megaloureter
0.000 0.994 0.006
Q17.5 Prominent ear
0.000 0.994 0.006
Q35.9 Cleft palate, unspecified
0.000 0.994 0.006
Q55.0 Absence and aplasia of testis
0.000 0.994 0.006
Q54.0 Hypospadias, balanic
0.000 0.994 0.006
Q98.4 Klinefelter's syndrome, unspecified
0.000 0.994 0.006
Q39 Congenital malformations of oesophagus
0.000 0.994 0.006
Q55.9 Congenital malformation of male genital organ, unspecified
0.000 0.994 0.006
Q55.8 Other specified congenital malformations of male genital organs
0.000 0.994 0.006
Q55.5 Congenital absence and aplasia of penis
0.000 0.994 0.006
Q55.3 Atresia of vas deferens
0.000 0.994 0.006
Q55.1 Hypoplasia of testis and scrotum
0.000 0.994 0.006
Q10.7 Congenital malformation of orbit
0.000 0.994 0.006
Q10.6 Other congenital malformations of lachrymal apparatus
0.000 0.994 0.006
Q10.5 Congenital stenosis and stricture of lachrymal duct
0.000 0.994 0.006
Q10.4 Absence and agenesis of lachrymal apparatus
0.000 0.994 0.006
Q10.3 Other congenital malformations of eyelid
0.000 0.994 0.006
Q10.2 Congenital entropion
0.000 0.994 0.006
Q10.1 Congenital ectropion
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
Q25 Congenital malformations of great arteries
0.000 0.994 0.006
Q62.7 Congenital vesico-uretero-renal reflux
0.000 0.994 0.006
Q62.6 Malposition of ureter
0.000 0.994 0.006
Q62.4 Agenesis of ureter
0.000 0.994 0.006
Q62.0 Congenital hydronephrosis
0.000 0.994 0.006
Q62.8 Other congenital malformations of ureter
0.000 0.994 0.006
Q44 Congenital malformations of gallbladder, bile ducts and liver
0.000 0.994 0.006
Q55.2 Other congenital malformations of testis and scrotum
0.000 0.994 0.006
Q13.9 Congenital malformation of anterior segment of eye, unspecified
0.000 0.994 0.006
Q13.8 Other congenital malformations of anterior segment of eye
0.000 0.994 0.006
Q13.5 Blue sclera
0.000 0.994 0.006
Q13.4 Other congenital corneal malformations
0.000 0.994 0.006
Q13.3 Congenital corneal opacity
0.000 0.994 0.006
Q13.2 Other congenital malformations of iris
0.000 0.994 0.006
Q13.1 Absence of iris
0.000 0.994 0.006
Q13.0 Coloboma of iris
0.000 0.994 0.006
Q16.9 Congenital malformation of ear causing impairment of hearing, unspecified
0.000 0.994 0.006
Q16.5 Congenital malformation of inner ear
0.000 0.994 0.006
Q16.4 Other congenital malformations of middle ear
0.000 0.994 0.006
Q16.3 Congenital malformation of ear ossicles
0.000 0.994 0.006
Q16.2 Absence of eustachian tube
0.000 0.994 0.006
Q16.1 Congenital absence, atresia and stricture of auditory canal (external)
0.000 0.994 0.006
Q16.0 Congenital absence of (ear) auricle
0.000 0.994 0.006
Q53.0 Ectopic testis
0.000 0.994 0.006
Q45 Other congenital malformations of digestive system
0.000 0.994 0.006
Q62.3 Other obstructive defects of renal pelvis and ureter
0.000 0.994 0.006
Q51 Congenital malformations of uterus and cervix
0.000 0.994 0.006
Q52.9 Congenital malformation of female genitalia, unspecified
0.000 0.994 0.005
Q52.8 Other specified congenital malformations of female genitalia
0.000 0.994 0.005
Q52.7 Other congenital malformations of vulva
0.000 0.994 0.005
Q52.6 Congenital malformation of clitoris
0.000 0.994 0.005
Q52.3 Imperforate hymen
0.000 0.994 0.005
Q52.2 Congenital rectovaginal fistula
0.000 0.994 0.005
Q52.0 Congenital absence of vagina
0.000 0.994 0.005
Q26 Congenital malformations of great veins
0.000 0.994 0.006
Q22 Congenital malformations of pulmonary and tricuspid valves
0.000 0.994 0.006
Q20 Congenital malformations of cardiac chambers and connexions
0.000 0.994 0.005
Q87 Other specified congenital malformation syndromes affecting multiple systems
0.000 0.994 0.006
Q90.9 Down's syndrome, unspecified
0.000 0.994 0.005
Q37.8 Unspecified cleft palate with bilateral cleft lip
0.000 0.994 0.005
Q37.5 Cleft hard and soft palate with unilateral cleft lip
0.000 0.994 0.005
Q37.4 Cleft hard and soft palate with bilateral cleft lip
0.000 0.994 0.005
Q37.3 Cleft soft palate with unilateral cleft lip
0.000 0.994 0.005
Q37.2 Cleft soft palate with bilateral cleft lip
0.000 0.994 0.005
Q37.1 Cleft hard palate with unilateral cleft lip
0.000 0.994 0.005
Q37.0 Cleft hard palate with bilateral cleft lip
0.000 0.994 0.005
Q05 Spina bifida
0.000 0.994 0.005
Q42 Congenital absence, atresia and stenosis of large intestine
0.000 0.994 0.005
Q41 Congenital absence, atresia and stenosis of small intestine
0.000 0.994 0.005
Q23.9 Congenital malformation of aortic and mitral valves, unspecified
0.000 0.994 0.005
Q23.8 Other congenital malformations of aortic and mitral valves
0.000 0.994 0.005
Q23.4 Hypoplastic left heart syndrome
0.000 0.994 0.005
Q23.2 Congenital mitral stenosis
0.000 0.994 0.005
Q15.9 Congenital malformation of eye, unspecified
0.000 0.994 0.005
Q15.8 Other specified congenital malformations of eye
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
Q35.8 (Cleft palate, unspecified, bilateral)
0.000 0.995 0.005
Q35.7 Cleft uvula
0.000 0.995 0.005
Q35.6 Cleft palate, medial
0.000 0.995 0.005
Q35.5 Cleft hard palate with cleft soft palate
0.000 0.995 0.005
Q35.4 (Cleft hard palate with cleft soft palate, bilateral)
0.000 0.995 0.005
Q35.3 Cleft soft palate
0.000 0.995 0.005
Q35.2 (Cleft soft palate, bilateral)
0.000 0.995 0.005
Q35.1 Cleft hard palate
0.000 0.995 0.005
Q35.0 (Cleft hard palate, bilateral)
0.000 0.995 0.005
Q98.9 Sex chromosome abnormality, male phenotype, unspecified
0.000 0.995 0.005
Q98.8 Other specified sex chromosome abnormalities, male phenotype
0.000 0.995 0.005
Q98.7 Male with sex chromosome mosaicism
0.000 0.995 0.005
Q98.6 Male with structurally abnormal sex chromosome
0.000 0.995 0.005
Q98.5 Karyotype 47,XYY
0.000 0.995 0.005
Q98.3 Other male with 46,XX karyotype
0.000 0.995 0.005
Q98.2 Klinefelter's syndrome, male with 46,XX karyotype
0.000 0.995 0.005
Q98.1 Klinefelter's syndrome, male with more than two X chromosomes
0.000 0.995 0.005
Q98.0 Klinefelter's syndrome karyotype 47,XXY
0.000 0.995 0.005
Q38 Other congenital malformations of tongue, mouth and pharynx
0.000 0.995 0.005
Q30 Congenital malformations of nose
0.000 0.995 0.005
Q64.7 Other congenital malformations of bladder and urethra
0.000 0.995 0.005
Q53.1 Undescended testicle, unilateral
0.000 0.995 0.005
Q56.4 Indeterminate sex, unspecified
0.000 0.995 0.005
Q56.3 Pseudohermaphroditism, unspecified
0.000 0.995 0.005
Q56.2 Female pseudohermaphroditism, not elsewhere classified
0.000 0.995 0.005
Q56.1 Male pseudohermaphroditism, not elsewhere classified
0.000 0.995 0.005
Q56.0 Hermaphroditism, not elsewhere classified
0.000 0.995 0.005
Q34 Other congenital malformations of respiratory system
0.000 0.995 0.005
Q33 Congenital malformations of lung
0.000 0.995 0.005
Q32 Congenital malformations of trachea and bronchus
0.000 0.995 0.005
Q60.3 Renal hypoplasia, unilateral
0.000 0.995 0.005
Q60.2 Renal agenesis, unspecified
0.000 0.995 0.005
Q01 Encephalocele
0.000 0.995 0.005
Q00 Anencephaly and similar malformations
0.000 0.995 0.005
Q02 Microcephaly
0.000 0.995 0.005
Q39.4 Oesophageal web
0.000 0.995 0.005
Q52.1 Doubling of vagina
0.000 0.995 0.005
Q25.6 Stenosis of pulmonary artery
0.000 0.995 0.005
Q25.4 Other congenital malformations of aorta
0.000 0.995 0.005
Q90.2 Trisomy 21, translocation
0.000 0.995 0.005
Q90.1 Trisomy 21, mosaicism (mitotic nondisjunction)
0.000 0.995 0.005
Q90.0 Trisomy 21, meiotic nondisjunction
0.000 0.995 0.005
Q60.6 Potter's syndrome
0.000 0.995 0.005
Q60.5 Renal hypoplasia, unspecified
0.000 0.995 0.005
Q60.4 Renal hypoplasia, bilateral
0.000 0.995 0.005
Q60.1 Renal agenesis, bilateral
0.000 0.995 0.005
Q64.9 Congenital malformation of urinary system, unspecified
0.000 0.995 0.005
Q64.8 Other specified congenital malformations of urinary system
0.000 0.995 0.005
Q64.6 Congenital diverticulum of bladder
0.000 0.995 0.005
Q64.5 Congenital absence of bladder and urethra
0.000 0.995 0.005
Q64.3 Other atresia and stenosis of urethra and bladder neck
0.000 0.995 0.005
Q64.2 Congenital posterior urethral valves
0.000 0.995 0.005
Q64.1 Exstrophy of urinary bladder
0.000 0.995 0.005
Q64.0 Epispadias
0.000 0.995 0.005
Q06 Other congenital malformations of spinal cord
0.000 0.995 0.005
Q03 Congenital hydrocephalus
0.000 0.995 0.005
Q80 Congenital ichthyosis
0.000 0.995 0.005
Q51.8 Other congenital malformations of uterus and cervix
0.000 0.995 0.005
Q44.6 Cystic disease of liver
0.000 0.995 0.005
Q52.5 Fusion of labia
0.000 0.995 0.005
Q61 Cystic kidney disease
0.000 0.995 0.005
Q39.9 Congenital malformation of oesophagus, unspecified
0.000 0.995 0.005
F31.9 Bipolar affective disorder, unspecified
0.000 0.995 0.005
Q50.6 Other congenital malformatons of Fallopian tube and broad ligament
0.000 0.995 0.005
Q50.3 Other congenital malformations of ovary
0.000 0.995 0.005
Q50.2 Congenital torsion of ovary
0.000 0.995 0.005
Q50.1 Developmental ovarian cyst
0.000 0.995 0.005
Q50.0 Congenital absence of ovary
0.000 0.995 0.005
Q63.1 Lobulated, fused and horseshoe kidney
0.000 0.995 0.005
Q24 Other congenital malformations of heart
0.000 0.995 0.005
Q31 Congenital malformations of larynx
0.000 0.995 0.005
Q86 Congenital malformation syndromes due to known exogenous causes, not elsewhere classified
0.000 0.995 0.005
Q84 Other congenital malformations of integument
0.000 0.995 0.005
Q81 Epidermolysis bullosa
0.000 0.995 0.005
Q64.4 Malformation of urachus
0.000 0.995 0.005
Q60.0 Renal agenesis, unilateral
0.000 0.995 0.005
Q07 Other congenital malformations of nervous system
0.000 0.995 0.005
Q91.7 Patau's syndrome, unspecified
0.000 0.995 0.005
Q91.6 Trisomy 13, translocation
0.000 0.995 0.005
Q91.5 Trisomy 13, mosaicism (mitotic nondisjunction)
0.000 0.995 0.005
Q91.4 Trisomy 13, meiotic nondisjunction
0.000 0.995 0.005
Q91.3 Edwards' syndrome, unspecified
0.000 0.995 0.005
Q91.2 Trisomy 18, translocation
0.000 0.995 0.005
Q91.1 Trisomy 18, mosaicism (mitotic nondisjunction)
0.000 0.995 0.005
Q91.0 Trisomy 18, meiotic nondisjunction
0.000 0.995 0.005
Q92.9 Trisomy and partial trisomy of autosomes, unspecified
0.000 0.995 0.005
Q92.8 Other specified trisomies and partial trisomies of autosomes
0.000 0.995 0.005
Q92.7 Triploidy and polyploidy
0.000 0.995 0.005
Q92.6 Extra marker chromosomes
0.000 0.995 0.005
Q92.5 Duplications with other complex rearrangements
0.000 0.995 0.005
Q92.4 Duplications seen only at prometaphase
0.000 0.995 0.005
Q92.3 Minor partial trisomy
0.000 0.995 0.005
Q92.2 Major partial trisomy
0.000 0.995 0.005
Q92.1 Whole chromosome trisomy, mosaicism (mitotic nondisjunction)
0.000 0.995 0.005
Q92.0 Whole chromosome trisomy, meiotic nondisjunction
0.000 0.995 0.005
Q93.9 Deletion from autosomes, unspecified
0.000 0.995 0.005
Q93.8 Other deletions from the autosomes
0.000 0.995 0.005
Q93.7 Deletions with other complex rearrangements
0.000 0.995 0.005
Q93.6 Deletions seen only at prometaphase
0.000 0.995 0.005
Q93.5 Other deletions of part of a chromosome
0.000 0.995 0.005
Q93.4 Deletion of short arm of chromosome 5
0.000 0.995 0.005
Q93.3 Deletion of short arm of chromosome 4
0.000 0.995 0.005
Q93.2 Chromosome replaced with ring or dicentric
0.000 0.995 0.005
Q93.1 Whole chromosome monosomy, mosaicism (mitotic nondisjunction)
0.000 0.995 0.005
Q93.0 Whole chromosome monosomy, meiotic nondisjunction
0.000 0.995 0.005
Q95.9 Balanced rearrangement and structural marker, unspecified
0.000 0.995 0.005
Q95.8 Other balanced rearrangements and structural markers
0.000 0.995 0.005
Q95.5 Individuals with autosomal fragile site
0.000 0.995 0.005
Q95.4 Individuals with marker heterochromatin
0.000 0.995 0.005
Q95.3 Balanced sex/autosomal rearrangement in abnormal individual
0.000 0.995 0.005
Q95.2 Balanced autosomal rearrangement in abnormal individual
0.000 0.995 0.005
Q95.1 Chromosome inversion in normal individual
0.000 0.995 0.005
Q95.0 Balanced translocation and insertion in normal individual
0.000 0.995 0.005
Q97.9 Sex chromosome abnormality, female phenotype, unspecified
0.000 0.995 0.005
Q97.8 Other specified sex chromosome abnormalities, female phenotype
0.000 0.995 0.005
Q97.3 Female with 46,XY karyotype
0.000 0.995 0.005
Q97.2 Mosaicism, lines with various numbers of X chromosomes
0.000 0.995 0.005
Q97.1 Female with more than three X chromosomes
0.000 0.995 0.005
Q97.0 Karyotype 47,XXX
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
Q50.4 Embryonic cyst of Fallopian tube
0.000 0.995 0.005
Q15.0 Congenital glaucoma
0.000 0.995 0.005
Q23.3 Congenital mitral insufficiency
0.000 0.995 0.005
Q04 Other congenital malformations of brain
0.000 0.995 0.005
Q21 Congenital malformations of cardiac septa
0.000 0.995 0.005
Q82 Other congenital malformations of skin
0.000 0.995 0.005
Q87.0 Congenital malformation syndromes predominantly affecting facial appearance
0.000 0.995 0.005
Q44.5 Other congenital malformations of bile ducts
0.000 0.995 0.005
Q83 Congenital malformations of breast
0.000 0.995 0.005
Q96.8 Other variants of Turner's syndrome
0.000 0.995 0.005
Q96.4 Mosaicism, 45,X/other cell line(s) with abnormal sex chromosome
0.000 0.995 0.005
Q96.3 Mosaicism, 45,X/46,XX or XY
0.000 0.995 0.005
Q96.2 Karyotype 46,X with abnormal sex chromosome, except iso (Xq)
0.000 0.995 0.005
Q96.1 Karyotype 46,X iso (Xq)
0.000 0.995 0.005
Q96.0 Karyotype 45,X
0.000 0.995 0.005
Q50.5 Embryonic cyst of broad ligament
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
Q45.8 Other specified congenital malformations of digestive system
0.000 0.995 0.005
Q40 Other congenital malformations of upper alimentary tract
0.000 0.995 0.004
Q05.7 Lumbar spina bifida without hydrocephalus
0.000 0.995 0.005
Q25.9 Congenital malformation of great arteries, unspecified
0.000 0.995 0.004
Q25.8 Other congenital malformations of great arteries
0.000 0.995 0.004
Q25.5 Atresia of pulmonary artery
0.000 0.995 0.004
Q25.2 Atresia of aorta
0.000 0.995 0.004
Q39.6 Diverticulum of oesophagus
0.000 0.995 0.004
Q44.3 Congenital stenosis and stricture of bile ducts
0.000 0.995 0.004
Q44.2 Atresia of bile ducts
0.000 0.995 0.004
Q44.1 Other congenital malformations of gallbladder
0.000 0.995 0.004
Q44.0 Agenesis, aplasia and hypoplasia of gallbladder
0.000 0.995 0.004
Q96.9 Turner's syndrome, unspecified
0.000 0.995 0.004
Q85 Phakomatoses, not elsewhere classified
0.000 0.995 0.005
Q25.0 Patent ductus arteriosus
0.000 0.995 0.004
Q45.3 Other congenital malformations of pancreas and pancreatic duct
0.000 0.995 0.004
Q25.7 Other congenital malformations of pulmonary artery
0.000 0.995 0.004
Q87.8 Other specified congenital malformation syndromes, not elsewhere classified
0.000 0.995 0.004
Q45.2 Congenital pancreatic cyst
0.000 0.995 0.004
Q45.1 Annular pancreas
0.000 0.995 0.004
Q45.0 Agenesis, aplasia and hypoplasia of pancreas
0.000 0.995 0.004
Q45.9 Congenital malformation of digestive system, unspecified
0.000 0.996 0.004
Q51.4 Unicornate uterus
0.000 0.996 0.004
Q21.9 Congenital malformation of cardiac septum, unspecified
0.000 0.996 0.004
L05.9 Pilonidal cyst without abscess
0.000 0.996 0.004
Q38.1 Ankyloglossia
0.000 0.996 0.004
Q22.5 Ebstein's anomaly
0.000 0.996 0.004
Q26.4 Anomalous pulmonary venous connexion, unspecified
0.000 0.996 0.004
Q44.7 Other congenital malformations of liver
0.000 0.996 0.004
Q44.4 Choledochal cyst
0.000 0.996 0.004
Q05.4 Unspecified spina bifida with hydrocephalus
0.000 0.996 0.004
Q51.9 Congenital malformation of uterus and cervix, unspecified
0.000 0.996 0.004
Q51.7 Congenital fistulae between uterus and digestive and urinary tracts
0.000 0.996 0.004
Q51.6 Embryonic cyst of cervix
0.000 0.996 0.004
Q51.5 Agenesis and aplasia of cervix
0.000 0.996 0.004
Q51.0 Agenesis and aplasia of uterus
0.000 0.996 0.004
Q61.4 Renal dysplasia
0.000 0.996 0.004
Q25.3 Stenosis of aorta
0.000 0.996 0.004
Q43 Other congenital malformations of intestine
0.000 0.996 0.004
Q38.5 Congenital malformations of palate, not elsewhere classified
0.000 0.996 0.004
Q22.9 Congenital malformation of tricuspid valve, unspecified
0.000 0.996 0.004
Q22.8 Other congenital malformations of tricuspid valve
0.000 0.996 0.004
Q22.6 Hypoplastic right heart syndrome
0.000 0.996 0.004
Q22.4 Congenital tricuspid stenosis
0.000 0.996 0.004
Q22.3 Other congenital malformations of pulmonary valve
0.000 0.996 0.004
Q22.2 Congenital pulmonary valve insufficiency
0.000 0.996 0.004
Q22.1 Congenital pulmonary valve stenosis
0.000 0.996 0.004
Q22.0 Pulmonary valve atresia
0.000 0.996 0.004
Q26.9 Congenital malformation of great vein, unspecified
0.000 0.996 0.004
Q26.8 Other congenital malformations of great veins
0.000 0.996 0.004
Q26.6 Portal vein-hepatic artery fistula
0.000 0.996 0.004
Q26.5 Anomalous portal venous connexion
0.000 0.996 0.004
Q26.3 Partial anomalous pulmonary venous connexion
0.000 0.996 0.004
Q26.2 Total anomalous pulmonary venous connexion
0.000 0.996 0.004
Q26.1 Persistent left superior vena cava
0.000 0.996 0.004
Q26.0 Congenital stenosis of vena cava
0.000 0.996 0.004
Q30.3 Congenital perforated nasal septum
0.000 0.996 0.004
Q87.5 Other congenital malformation syndromes with other skeletal changes
0.000 0.996 0.004
Q87.3 Congenital malformation syndromes involving early overgrowth
0.000 0.996 0.004
Q87.2 Congenital malformation syndromes predominantly involving limbs
0.000 0.996 0.004
Q20.9 Congenital malformation of cardiac chambers and connexions, unspecified
0.000 0.996 0.004
Q20.8 Other congenital malformations of cardiac chambers and connexions
0.000 0.996 0.004
Q20.6 Isomerism of atrial appendages
0.000 0.996 0.004
Q20.5 Discordant atrioventricular connexion
0.000 0.996 0.004
Q20.4 Double inlet ventricle
0.000 0.996 0.004
Q20.3 Discordant ventriculoarterial connexion
0.000 0.996 0.004
Q20.2 Double outlet left ventricle
0.000 0.996 0.004
Q20.1 Double outlet right ventricle
0.000 0.996 0.004
Q20.0 Common arterial trunk
0.000 0.996 0.004
Q82.8 Other specified congenital malformations of skin
0.000 0.996 0.004
Q87.1 Congenital malformation syndromes predominantly associated with short stature
0.000 0.996 0.004
Q27 Other congenital malformations of peripheral vascular system
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
Q25.1 Coarctation of aorta
0.000 0.996 0.004
Q41.9 Congenital absence, atresia and stenosis of small intestine, part unspecified
0.000 0.996 0.004
Q41.8 Congenital absence, atresia and stenosis of other specified parts of small intestine
0.000 0.996 0.004
Q41.2 Congenital absence, atresia and stenosis of ileum
0.000 0.996 0.004
Q41.1 Congenital absence, atresia and stenosis of jejunum
0.000 0.996 0.004
Q41.0 Congenital absence, atresia and stenosis of duodenum
0.000 0.996 0.004
Q42.9 Congenital absence, atresia and stenosis of large intestine, part unspecified
0.000 0.996 0.004
Q42.8 Congenital absence, atresia and stenosis of other parts of large intestine
0.000 0.996 0.004
Q42.3 Congenital absence, atresia and stenosis of anus without fistula
0.000 0.996 0.004
Q42.2 Congenital absence, atresia and stenosis of anus with fistula
0.000 0.996 0.004
Q42.1 Congenital absence, atresia and stenosis of rectum without fistula
0.000 0.996 0.004
Q42.0 Congenital absence, atresia and stenosis of rectum with fistula
0.000 0.996 0.004
Q24.8 Other specified congenital malformations of heart
0.000 0.996 0.004
Q38.4 Congenital malformations of salivary glands and ducts
0.000 0.996 0.004
Q38.3 Other congenital malformations of tongue
0.000 0.996 0.004
Q38.2 Macroglossia
0.000 0.996 0.004
Q51.1 Doubling of uterus with doubling of cervix and vagina
0.000 0.996 0.004
Q38.8 Other congenital malformations of pharynx
0.000 0.996 0.004
Q38.0 Congenital malformations of lips, not elsewhere classified
0.000 0.996 0.004
Q28 Other congenital malformations of circulatory system
0.000 0.996 0.004
Q30.8 Other congenital malformations of nose
0.000 0.996 0.004
Q30.2 Fissured, notched and cleft nose
0.000 0.996 0.004
Q30.1 Agenesis and underdevelopment of nose
0.000 0.996 0.004
Q30.0 Choanal atresia
0.000 0.996 0.004
Q65-Q79 Congenital malformations and deformations of the musculoskeletal system
0.000 0.996 0.004
Q32.4 Other congenital malformations of bronchus
0.000 0.996 0.004
Q32.3 Congenital stenosis of bronchus
0.000 0.996 0.004
Q32.2 Congenital bronchomalacia
0.000 0.996 0.004
Q32.1 Other congenital malformations of trachea
0.000 0.996 0.004
Q32.0 Congenital tracheomalacia
0.000 0.996 0.004
Q33.9 Congenital malformation of lung, unspecified
0.000 0.996 0.004
Q33.8 Other congenital malformations of lung
0.000 0.996 0.004
Q33.6 Hypoplasia and dysplasia of lung
0.000 0.996 0.004
Q33.5 Ectopic tissue in lung
0.000 0.996 0.004
Q33.4 Congenital bronchiectasis
0.000 0.996 0.004
Q33.3 Agenesis of lung
0.000 0.996 0.004
Q33.2 Sequestration of lung
0.000 0.996 0.004
Q33.1 Accessory lobe of lung
0.000 0.996 0.004
Q33.0 Congenital cystic lung
0.000 0.996 0.004
Q34.9 Congenital malformation of respiratory system, unspecified
0.000 0.996 0.004
Q34.8 Other specified congenital malformations of respiratory system
0.000 0.996 0.004
Q34.1 Congenital cyst of mediastinum
0.000 0.996 0.004
Q34.0 Anomaly of pleura
0.000 0.996 0.004
Q80.9 Congenital ichthyosis, unspecified
0.000 0.996 0.004
Q38.6 Other congenital malformations of mouth
0.000 0.996 0.004
S12.20 Fracture of other specified cervical vertebra (closed)
0.004 0.996 0.000
Q30.9 Congenital malformation of nose, unspecified
0.000 0.996 0.004
Q21.0 Ventricular septal defect
0.000 0.996 0.004
Q89 Other congenital malformations, not elsewhere classified
0.000 0.996 0.004
Q00.2 Iniencephaly
0.000 0.996 0.004
Q00.1 Craniorachischisis
0.000 0.996 0.004
Q00.0 Anencephaly
0.000 0.996 0.004
Q01.9 Encephalocele, unspecified
0.000 0.996 0.004
Q01.8 Encephalocele of other sites
0.000 0.996 0.004
Q01.2 Occipital encephalocele
0.000 0.996 0.004
Q01.1 Nasofrontal encephalocele
0.000 0.996 0.004
Q01.0 Frontal encephalocele
0.000 0.996 0.004
Q87.4 Marfan's syndrome
0.000 0.996 0.004
N02 Recurrent and persistent haematuria
0.004 0.996 0.000
Q83.3 Accessory nipple
0.000 0.996 0.004
Q06.9 Congenital malformation of spinal cord, unspecified
0.000 0.996 0.004
Q06.4 Hydromyelia
0.000 0.996 0.004
Q06.3 Other congenital cauda equina malformations
0.000 0.996 0.004
Q06.2 Diastematomyelia
0.000 0.996 0.004
Q06.1 Hypoplasia and dysplasia of spinal cord
0.000 0.996 0.004
Q06.0 Amyelia
0.000 0.996 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
Q80.8 Other congenital ichthyosis
0.000 0.996 0.004
Q80.4 Harlequin foetus
0.000 0.996 0.004
Q80.3 Congenital bullous ichthyosiform erythroderma
0.000 0.996 0.004
Q80.2 Lamellar ichthyosis
0.000 0.996 0.004
Q80.1 X-linked ichthyosis
0.000 0.996 0.004
Q80.0 Ichthyosis vulgaris
0.000 0.996 0.004
N08.3 Glomerular disorders in diabetes mellitus
0.004 0.996 0.000
Q05.9 Spina bifida, unspecified
0.000 0.996 0.004
Q61.8 Other cystic kidney diseases
0.000 0.996 0.004
Q61.1 Polycystic kidney, infantile type
0.000 0.996 0.004
Q03.0 Malformations of aqueduct of Sylvius
0.000 0.996 0.004
Q06.8 Other specified congenital malformations of spinal cord
0.000 0.996 0.004
Q24.3 Pulmonary infundibular stenosis
0.000 0.996 0.004
Q24.2 Cor triatriatum
0.000 0.996 0.004
Q24.1 Levocardia
0.000 0.996 0.004
Q31.9 Congenital malformation of larynx, unspecified
0.000 0.996 0.004
Q31.8 Other congenital malformations of larynx
0.000 0.996 0.004
Q31.5 Congenital laryngomalacia
0.000 0.996 0.004
Q31.4 Congenital laryngeal stridor
0.000 0.996 0.004
Q31.2 Laryngeal hypoplasia
0.000 0.996 0.004
Q31.1 Congenital subglottic stenosis
0.000 0.996 0.004
Q81.9 Epidermolysis bullosa, unspecified
0.000 0.996 0.004

This table lists the top 500 terms ordered by p(effect).

The full results table can be downloaded from this page.

 

The TreeWAS Database is the result of research conducted at the Oxford Big Data Institute at the University of Oxford.

This research has been conducted using the UK Biobank Resource (application number 10625). This work uses data provided by patients and collected by the NHS as part of their care and support.

This research has been conducted with the support of the Wellcome Trust (100956/Z/13/Z and 090532/Z/09/Z and 100308/Z/12/Z), the Danish National Research Foundation, Takeda, the Medical Research Council (MC_UU_12010/3), the Oak Foundation (OCAY-15-520), the National Institute for Health Research (NIHR) Oxford Biomedical Research Centre (BRC), the Wellcome Trust/Royal Society (204290/Z/16/Z) and the Li Ka Shing Foundation.

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