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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

rs1546044
log Bayes Factor = <0.0001
Chromosome 4   position 149,332,944  (GRCh37) Explore rs1546044 on Ensembl!
Variant rs1546044 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
  
A41.5 Septicaemia due to other Gram-negative organisms
0.065 0.935 0.000
K65.9 Peritonitis, unspecified
0.000 0.973 0.027
O42.1 Premature rupture of membranes, onset of labour after 24 hours
0.000 0.975 0.025
Q44.6 Cystic disease of liver
0.000 0.978 0.022
K65 Peritonitis
0.000 0.980 0.020
O42 Premature rupture of membranes
0.000 0.981 0.019
K65.0 Acute peritonitis
0.000 0.981 0.019
Q44 Congenital malformations of gallbladder, bile ducts and liver
0.000 0.982 0.018
O42.9 Premature rupture of membranes, unspecified
0.000 0.982 0.018
O42.0 Premature rupture of membranes, onset of labour within 24 hours
0.000 0.983 0.017
Q44.5 Other congenital malformations of bile ducts
0.000 0.985 0.015
Q38-Q45 Other congenital malformations of the digestive system
0.000 0.986 0.014
Q44.7 Other congenital malformations of liver
0.000 0.986 0.014
O42.2 Premature rupture of membranes, labour delayed by therapy
0.000 0.986 0.014
Q44.3 Congenital stenosis and stricture of bile ducts
0.000 0.987 0.013
Q44.2 Atresia of bile ducts
0.000 0.987 0.013
Q44.1 Other congenital malformations of gallbladder
0.000 0.987 0.013
Q44.0 Agenesis, aplasia and hypoplasia of gallbladder
0.000 0.987 0.013
K65.8 Other peritonitis
0.000 0.987 0.013
Q44.4 Choledochal cyst
0.000 0.988 0.012
Q45 Other congenital malformations of digestive system
0.000 0.989 0.011
Q43 Other congenital malformations of intestine
0.000 0.989 0.011
Q39 Congenital malformations of oesophagus
0.000 0.990 0.010
Q38 Other congenital malformations of tongue, mouth and pharynx
0.000 0.990 0.010
Q42 Congenital absence, atresia and stenosis of large intestine
0.000 0.990 0.010
Q41 Congenital absence, atresia and stenosis of small intestine
0.000 0.990 0.010
L53.9 Erythematous condition, unspecified
0.000 0.990 0.010
Q40 Other congenital malformations of upper alimentary tract
0.000 0.990 0.010
Q61.3 Polycystic kidney, unspecified
0.000 0.990 0.010
Q00-Q07 Congenital malformations of the nervous system
0.000 0.990 0.010
Z95.0 Presence of cardiac pacemaker
0.000 0.990 0.010
Chapter XVII Congenital malformations, deformations and chromosomal abnormalities
0.000 0.991 0.009
Q05 Spina bifida
0.000 0.991 0.009
Q45.3 Other congenital malformations of pancreas and pancreatic duct
0.000 0.991 0.009
Q43.8 Other specified congenital malformations of intestine
0.000 0.991 0.009
Q39.6 Diverticulum of oesophagus
0.000 0.991 0.009
Q43.9 Congenital malformation of intestine, unspecified
0.000 0.991 0.008
Q38.7 Pharyngeal pouch
0.000 0.992 0.008
Q07 Other congenital malformations of nervous system
0.000 0.992 0.008
Q45.8 Other specified congenital malformations of digestive system
0.000 0.992 0.008
Q45.9 Congenital malformation of digestive system, unspecified
0.000 0.992 0.008
Q45.2 Congenital pancreatic cyst
0.000 0.992 0.008
Q45.1 Annular pancreas
0.000 0.992 0.008
Q45.0 Agenesis, aplasia and hypoplasia of pancreas
0.000 0.992 0.008
Q38.5 Congenital malformations of palate, not elsewhere classified
0.000 0.992 0.008
Q43.7 Persistent cloaca
0.000 0.992 0.008
Q43.6 Congenital fistula of rectum and anus
0.000 0.992 0.008
Q43.5 Ectopic anus
0.000 0.992 0.008
Q43.4 Duplication of intestine
0.000 0.992 0.008
Q43.2 Other congenital functional disorders of colon
0.000 0.992 0.008
Q61 Cystic kidney disease
0.000 0.992 0.008
Q06 Other congenital malformations of spinal cord
0.000 0.992 0.008
Q03 Congenital hydrocephalus
0.000 0.992 0.008
Q05.4 Unspecified spina bifida with hydrocephalus
0.000 0.992 0.008
Q38.6 Other congenital malformations of mouth
0.000 0.992 0.008
Q43.0 Meckel's diverticulum
0.000 0.992 0.008
Q05.9 Spina bifida, unspecified
0.000 0.992 0.008
Q39.9 Congenital malformation of oesophagus, unspecified
0.000 0.992 0.008
Q39.8 Other congenital malformations of oesophagus
0.000 0.992 0.008
Q39.5 Congenital dilatation of oesophagus
0.000 0.992 0.008
Q39.3 Congenital stenosis and stricture of oesophagus
0.000 0.992 0.008
Q39.2 Congenital tracheooesophageal fistula without atresia
0.000 0.992 0.008
Q39.1 Atresia of oesophagus with tracheooesophageal fistula
0.000 0.992 0.008
Q39.0 Atresia of oesophagus without fistula
0.000 0.992 0.008
Q38.8 Other congenital malformations of pharynx
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
Q41.9 Congenital absence, atresia and stenosis of small intestine, part unspecified
0.000 0.992 0.007
Q41.8 Congenital absence, atresia and stenosis of other specified parts of small intestine
0.000 0.992 0.007
Q41.2 Congenital absence, atresia and stenosis of ileum
0.000 0.992 0.007
Q41.1 Congenital absence, atresia and stenosis of jejunum
0.000 0.992 0.007
Q41.0 Congenital absence, atresia and stenosis of duodenum
0.000 0.992 0.007
Q42.9 Congenital absence, atresia and stenosis of large intestine, part unspecified
0.000 0.992 0.007
Q42.8 Congenital absence, atresia and stenosis of other parts of large intestine
0.000 0.992 0.007
Q42.3 Congenital absence, atresia and stenosis of anus without fistula
0.000 0.992 0.007
Q42.2 Congenital absence, atresia and stenosis of anus with fistula
0.000 0.992 0.007
Q42.1 Congenital absence, atresia and stenosis of rectum without fistula
0.000 0.992 0.007
Q42.0 Congenital absence, atresia and stenosis of rectum with fistula
0.000 0.992 0.007
Q40.3 Congenital malformation of stomach, unspecified
0.000 0.992 0.007
Q40.2 Other specified congenital malformations of stomach
0.000 0.992 0.007
Q65-Q79 Congenital malformations and deformations of the musculoskeletal system
0.000 0.992 0.007
Q43.3 Congenital malformations of intestinal fixation
0.000 0.993 0.007
Q53 Undescended testicle
0.000 0.993 0.007
Q50-Q56 Congenital malformations of genital organs
0.000 0.993 0.007
Q40.9 Congenital malformation of upper alimentary tract, unspecified
0.000 0.993 0.007
Q40.0 Congenital hypertrophic pyloric stenosis
0.000 0.993 0.007
Q60-Q64 Congenital malformations of the urinary system
0.000 0.993 0.007
Q40.8 Other specified congenital malformations of upper alimentary tract
0.000 0.993 0.007
Q90-Q99 Chromosomal abnormalities, not elsewhere classified
0.000 0.993 0.007
Q07.0 Arnold-Chiari syndrome
0.000 0.993 0.007
Q51.8 Other congenital malformations of uterus and cervix
0.000 0.993 0.007
Q51 Congenital malformations of uterus and cervix
0.000 0.993 0.007
Q43.1 Hirschsprung's disease
0.000 0.993 0.007
Q04 Other congenital malformations of brain
0.000 0.993 0.007
Q01 Encephalocele
0.000 0.993 0.007
Q00 Anencephaly and similar malformations
0.000 0.993 0.007
Q02 Microcephaly
0.000 0.993 0.007
Q53.1 Undescended testicle, unilateral
0.000 0.993 0.007
Q38.0 Congenital malformations of lips, not elsewhere classified
0.000 0.993 0.007
Q40.1 Congenital hiatus hernia
0.000 0.993 0.007
Q38.1 Ankyloglossia
0.000 0.993 0.007
Q66 Congenital deformities of feet
0.000 0.993 0.007
Q61.5 Medullary cystic kidney
0.000 0.993 0.007
Q05.8 Sacral spina bifida without hydrocephalus
0.000 0.993 0.007
Q05.6 Thoracic spina bifida without hydrocephalus
0.000 0.993 0.007
Q05.5 Cervical spina bifida without hydrocephalus
0.000 0.993 0.007
Q05.3 Sacral spina bifida with hydrocephalus
0.000 0.993 0.007
Q05.2 Lumbar spina bifida with hydrocephalus
0.000 0.993 0.007
Q05.1 Thoracic spina bifida with hydrocephalus
0.000 0.993 0.007
Q05.0 Cervical spina bifida with hydrocephalus
0.000 0.993 0.007
Q74 Other congenital malformations of limb(s)
0.000 0.993 0.007
Q07.8 Other specified congenital malformations of nervous system
0.000 0.993 0.006
Q39.4 Oesophageal web
0.000 0.993 0.006
Q03.0 Malformations of aqueduct of Sylvius
0.000 0.993 0.006
Q05.7 Lumbar spina bifida without hydrocephalus
0.000 0.993 0.006
Q06.8 Other specified congenital malformations of spinal cord
0.000 0.994 0.006
Q30-Q34 Congenital malformations of the respiratory system
0.000 0.994 0.006
Q07.9 Congenital malformation of nervous system, unspecified
0.000 0.994 0.006
Q78 Other osteochondrodysplasias
0.000 0.994 0.006
Q53.2 Undescended testicle, bilateral
0.000 0.994 0.006
Q20-Q28 Congenital malformations of the circulatory system
0.000 0.994 0.006
Q35-Q37 Cleft lip and cleft palate
0.000 0.994 0.006
I71.2 Thoracic aortic aneurysm, without mention of rupture
0.006 0.994 0.000
Q61.2 Polycystic kidney, adult type
0.000 0.994 0.006
Q53.9 Undescended testicle, unspecified
0.000 0.994 0.006
Q66.3 Other congenital varus deformities of feet
0.000 0.994 0.006
D72.8 Other specified disorders of white blood cells
0.006 0.994 0.000
Q65 Congenital deformities of hip
0.000 0.994 0.006
Q06.2 Diastematomyelia
0.000 0.994 0.006
Q61.8 Other cystic kidney diseases
0.000 0.994 0.006
Q61.1 Polycystic kidney, infantile type
0.000 0.994 0.006
Q68 Other congenital musculoskeletal deformities
0.000 0.994 0.006
Q03.9 Congenital hydrocephalus, unspecified
0.000 0.994 0.006
Q03.8 Other congenital hydrocephalus
0.000 0.994 0.006
Q03.1 Atresia of foramina of Magendie and Luschka
0.000 0.994 0.006
Q98 Other sex chromosome abnormalities, male phenotype, not elsewhere classified
0.000 0.994 0.006
Q06.9 Congenital malformation of spinal cord, unspecified
0.000 0.994 0.006
Q06.4 Hydromyelia
0.000 0.994 0.006
Q06.3 Other congenital cauda equina malformations
0.000 0.994 0.006
Q06.1 Hypoplasia and dysplasia of spinal cord
0.000 0.994 0.006
Q06.0 Amyelia
0.000 0.994 0.006
Q04.8 Other specified congenital malformations of brain
0.000 0.994 0.006
Q74.0 Other congenital malformations of upper limb(s), including shoulder girdle
0.000 0.994 0.006
Q64 Other congenital malformations of urinary system
0.000 0.994 0.006
Q51.4 Unicornate uterus
0.000 0.994 0.006
Q23 Congenital malformations of aortic and mitral valves
0.000 0.994 0.006
Q96 Turner's syndrome
0.000 0.994 0.006
S62.30 Fracture of other metacarpal bone (closed)
0.000 0.994 0.006
Q53.0 Ectopic testis
0.000 0.994 0.005
Q73 Reduction defects of unspecified limb
0.000 0.994 0.006
Q72 Reduction defects of lower limb
0.000 0.994 0.006
Q71 Reduction defects of upper limb
0.000 0.994 0.006
Q70 Syndactyly
0.000 0.994 0.006
Q69 Polydactyly
0.000 0.994 0.006
Q10-Q18 Congenital malformations of eye, ear, face and neck
0.000 0.994 0.005
Q56 Indeterminate sex and pseudohermaphroditism
0.000 0.994 0.005
Q61.4 Renal dysplasia
0.000 0.994 0.005
Q51.2 Other doubling of uterus
0.000 0.994 0.005
Q66.9 Congenital deformity of feet, unspecified
0.000 0.994 0.005
S61.1 Open wound of finger(s) with damage to nail
0.006 0.994 0.000
Q25 Congenital malformations of great arteries
0.000 0.994 0.006
Q97 Other sex chromosome abnormalities, female phenotype, not elsewhere classified
0.000 0.995 0.005
Q95 Balanced rearrangements and structural markers, not elsewhere classified
0.000 0.995 0.005
Q93 Monosomies and deletions from the autosomes, not elsewhere classified
0.000 0.995 0.005
Q92 Other trisomies and partial trisomies of the autosomes, not elsewhere classified
0.000 0.995 0.005
Q91 Edwards' syndrome and Patau's syndrome
0.000 0.995 0.005
Q51.9 Congenital malformation of uterus and cervix, unspecified
0.000 0.995 0.005
Q51.7 Congenital fistulae between uterus and digestive and urinary tracts
0.000 0.995 0.005
Q51.6 Embryonic cyst of cervix
0.000 0.995 0.005
Q51.5 Agenesis and aplasia of cervix
0.000 0.995 0.005
Q51.0 Agenesis and aplasia of uterus
0.000 0.995 0.005
Q00.2 Iniencephaly
0.000 0.995 0.005
Q00.1 Craniorachischisis
0.000 0.995 0.005
Q00.0 Anencephaly
0.000 0.995 0.005
Q01.9 Encephalocele, unspecified
0.000 0.995 0.005
Q01.8 Encephalocele of other sites
0.000 0.995 0.005
Q01.2 Occipital encephalocele
0.000 0.995 0.005
Q01.1 Nasofrontal encephalocele
0.000 0.995 0.005
Q01.0 Frontal encephalocele
0.000 0.995 0.005
Q04.9 Congenital malformation of brain, unspecified
0.000 0.995 0.005
Q04.5 Megalencephaly
0.000 0.995 0.005
Q04.4 Septo-optic dysplasia
0.000 0.995 0.005
Q04.3 Other reduction deformities of brain
0.000 0.995 0.005
Q04.2 Holoprosencephaly
0.000 0.995 0.005
Q04.1 Arhinencephaly
0.000 0.995 0.005
Q04.0 Congenital malformations of corpus callosum
0.000 0.995 0.005
Q99 Other chromosome abnormalities, not elsewhere classified
0.000 0.995 0.005
Q75 Other congenital malformations of skull and face bones
0.000 0.995 0.005
Q90 Down's syndrome
0.000 0.995 0.005
Q61.9 Cystic kidney disease, unspecified
0.000 0.995 0.005
Q66.0 Talipes equinovarus
0.000 0.995 0.005
Q74.2 Other congenital malformations of lower limb(s), including pelvic girdle
0.000 0.995 0.005
Q77 Osteochondrodysplasia with defects of growth of tubular bones and spine
0.000 0.995 0.005
Q66.7 Pes cavus
0.000 0.995 0.005
C71.9 Brain, unspecified
0.005 0.995 0.000
Q55 Other congenital malformations of male genital organs
0.000 0.995 0.005
Q51.1 Doubling of uterus with doubling of cervix and vagina
0.000 0.995 0.005
Q78.0 Osteogenesis imperfecta
0.000 0.995 0.005
Q51.3 Bicornate uterus
0.000 0.995 0.005
Q66.8 Other congenital deformities of feet
0.000 0.995 0.005
Q66.6 Other congenital valgus deformities of feet
0.000 0.995 0.005
Q66.5 Congenital pes planus
0.000 0.995 0.005
Q66.4 Talipes calcaneovalgus
0.000 0.995 0.005
Q66.1 Talipes calcaneovarus
0.000 0.995 0.005
Q79 Congenital malformations of musculoskeletal system, not elsewhere classified
0.000 0.995 0.005
Q74.1 Congenital malformation of knee
0.000 0.995 0.005
Q60 Renal agenesis and other reduction defects of kidney
0.000 0.995 0.005
Q66.2 Metatarsus varus
0.000 0.995 0.005
Q74.9 Unspecified congenital malformation of limb(s)
0.000 0.995 0.005
Q74.8 Other specified congenital malformations of limb(s)
0.000 0.995 0.005
Q74.3 Arthrogryposis multiplex congenita
0.000 0.995 0.005
Q25.0 Patent ductus arteriosus
0.000 0.995 0.005
Q12 Congenital lens malformations
0.000 0.995 0.005
Q78.2 Osteopetrosis
0.000 0.995 0.005
Q04.6 Congenital cerebral cysts
0.000 0.995 0.005
Q31 Congenital malformations of larynx
0.000 0.995 0.005
Q98.4 Klinefelter's syndrome, unspecified
0.000 0.995 0.005
Q23.1 Congenital insufficiency of aortic valve
0.000 0.995 0.005
Q23.0 Congenital stenosis of aortic valve
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
Q64.7 Other congenital malformations of bladder and urethra
0.000 0.995 0.005
Q26 Congenital malformations of great veins
0.000 0.995 0.005
Q68.8 Other specified congenital musculoskeletal deformities
0.000 0.995 0.005
Q78.9 Osteochondrodysplasia, unspecified
0.000 0.995 0.005
Q78.8 Other specified osteochondrodysplasias
0.000 0.995 0.005
Q78.6 Multiple congenital exostoses
0.000 0.995 0.005
Q78.5 Metaphyseal dysplasia
0.000 0.995 0.005
Q78.4 Enchondromatosis
0.000 0.995 0.005
Q78.3 Progressive diaphyseal dysplasia
0.000 0.995 0.005
Q78.1 Polyostotic fibrous dysplasia
0.000 0.995 0.005
Q20 Congenital malformations of cardiac chambers and connexions
0.000 0.995 0.005
Q36 Cleft lip
0.000 0.995 0.004
Q50 Congenital malformations of ovaries, Fallopian tubes and broad ligaments
0.000 0.995 0.005
K43.0 Ventral hernia with obstruction, without gangrene
0.000 0.995 0.005
Q65.1 Congenital dislocation of hip, bilateral
0.000 0.995 0.005
Q64.3 Other atresia and stenosis of urethra and bladder neck
0.000 0.995 0.004
Q65.2 Congenital dislocation of hip, unspecified
0.000 0.995 0.004
Q65.9 Congenital deformity of hip, unspecified
0.000 0.995 0.004
Q65.8 Other congenital deformities of hip
0.000 0.995 0.005
Q65.6 Unstable hip
0.000 0.995 0.004
Q65.5 Congenital subluxation of hip, unspecified
0.000 0.995 0.004
Q65.4 Congenital subluxation of hip, bilateral
0.000 0.995 0.004
Q65.3 Congenital subluxation of hip, unilateral
0.000 0.995 0.004
Q65.0 Congenital dislocation of hip, unilateral
0.000 0.995 0.004
Q96.9 Turner's syndrome, unspecified
0.000 0.995 0.004
Q11 Anophthalmos, microphthalmos and macrophthalmos
0.000 0.995 0.004
Q35 Cleft palate
0.000 0.995 0.004
Q25.1 Coarctation of aorta
0.000 0.995 0.004
Q68.5 Congenital bowing of long bones of leg, unspecified
0.000 0.995 0.004
Q68.4 Congenital bowing of tibia and fibula
0.000 0.995 0.004
Q68.3 Congenital bowing of femur
0.000 0.995 0.004
Q68.2 Congenital deformity of knee
0.000 0.995 0.004
Q68.1 Congenital deformity of hand
0.000 0.995 0.004
Q68.0 Congenital deformity of sternocleidomastoid muscle
0.000 0.995 0.004
Q12.0 Congenital cataract
0.000 0.995 0.004
Q23.3 Congenital mitral insufficiency
0.000 0.995 0.004
Q98.9 Sex chromosome abnormality, male phenotype, unspecified
0.000 0.995 0.004
Q98.8 Other specified sex chromosome abnormalities, male phenotype
0.000 0.995 0.004
Q98.7 Male with sex chromosome mosaicism
0.000 0.995 0.004
Q98.6 Male with structurally abnormal sex chromosome
0.000 0.995 0.004
Q98.5 Karyotype 47,XYY
0.000 0.995 0.004
Q98.3 Other male with 46,XX karyotype
0.000 0.995 0.004
Q98.2 Klinefelter's syndrome, male with 46,XX karyotype
0.000 0.995 0.004
Q98.1 Klinefelter's syndrome, male with more than two X chromosomes
0.000 0.995 0.004
Q98.0 Klinefelter's syndrome karyotype 47,XXY
0.000 0.995 0.004
Q25.3 Stenosis of aorta
0.000 0.996 0.004
Q64.9 Congenital malformation of urinary system, unspecified
0.000 0.996 0.004
Q64.8 Other specified congenital malformations of urinary system
0.000 0.996 0.004
Q64.6 Congenital diverticulum of bladder
0.000 0.996 0.004
Q64.5 Congenital absence of bladder and urethra
0.000 0.996 0.004
Q64.2 Congenital posterior urethral valves
0.000 0.996 0.004
Q64.1 Exstrophy of urinary bladder
0.000 0.996 0.004
Q64.0 Epispadias
0.000 0.996 0.004
Q24 Other congenital malformations of heart
0.000 0.996 0.004
Q23.9 Congenital malformation of aortic and mitral valves, unspecified
0.000 0.996 0.004
Q23.8 Other congenital malformations of aortic and mitral valves
0.000 0.996 0.004
Q23.4 Hypoplastic left heart syndrome
0.000 0.996 0.004
Q23.2 Congenital mitral stenosis
0.000 0.996 0.004
Q96.8 Other variants of Turner's syndrome
0.000 0.996 0.004
Q96.4 Mosaicism, 45,X/other cell line(s) with abnormal sex chromosome
0.000 0.996 0.004
Q96.3 Mosaicism, 45,X/46,XX or XY
0.000 0.996 0.004
Q96.2 Karyotype 46,X with abnormal sex chromosome, except iso (Xq)
0.000 0.996 0.004
Q96.1 Karyotype 46,X iso (Xq)
0.000 0.996 0.004
Q96.0 Karyotype 45,X
0.000 0.996 0.004
Q30 Congenital malformations of nose
0.000 0.996 0.004
Q69.9 Polydactyly, unspecified
0.000 0.996 0.004
Q69.2 Accessory toe(s)
0.000 0.996 0.004
Q69.1 Accessory thumb(s)
0.000 0.996 0.004
Q69.0 Accessory finger(s)
0.000 0.996 0.004
Q70.9 Syndactyly, unspecified
0.000 0.996 0.004
Q70.4 Polysyndactyly
0.000 0.996 0.004
Q70.3 Webbed toes
0.000 0.996 0.004
Q70.2 Fused toes
0.000 0.996 0.004
Q70.1 Webbed fingers
0.000 0.996 0.004
Q70.0 Fused fingers
0.000 0.996 0.004
Q71.9 Reduction defect of upper limb, unspecified
0.000 0.996 0.004
Q71.8 Other reduction defects of upper limb(s)
0.000 0.996 0.004
Q71.6 Lobster-claw hand
0.000 0.996 0.004
Q71.5 Longitudinal reduction defect of ulna
0.000 0.996 0.004
Q71.4 Longitudinal reduction defect of radius
0.000 0.996 0.004
Q71.3 Congenital absence of hand and finger(s)
0.000 0.996 0.004
Q71.2 Congenital absence of both forearm and hand
0.000 0.996 0.004
Q71.1 Congenital absence of upper arm and forearm with hand present
0.000 0.996 0.004
Q71.0 Congenital complete absence of upper limb(s)
0.000 0.996 0.004
Q72.9 Reduction defect of lower limb, unspecified
0.000 0.996 0.004
Q72.8 Other reduction defects of lower limb(s)
0.000 0.996 0.004
Q72.7 Split foot
0.000 0.996 0.004
Q72.6 Longitudinal reduction defect of fibula
0.000 0.996 0.004
Q72.5 Longitudinal reduction defect of tibia
0.000 0.996 0.004
Q72.4 Longitudinal reduction defect of femur
0.000 0.996 0.004
Q72.3 Congenital absence of foot and toe(s)
0.000 0.996 0.004
Q72.2 Congenital absence of both lower leg and foot
0.000 0.996 0.004
Q72.1 Congenital absence of thigh and lower leg with foot present
0.000 0.996 0.004
Q72.0 Congenital complete absence of lower limb(s)
0.000 0.996 0.004
Q73.8 Other reduction defects of unspecified limb(s)
0.000 0.996 0.004
Q73.1 Phocomelia, unspecified limb(s)
0.000 0.996 0.004
Q73.0 Congenital absence of unspecified limb(s)
0.000 0.996 0.004
Q16 Congenital malformations of ear causing impairment of hearing
0.000 0.996 0.004
Q13 Congenital malformations of anterior segment of eye
0.000 0.996 0.004
Q25.7 Other congenital malformations of pulmonary artery
0.000 0.996 0.004
Q25.4 Other congenital malformations of aorta
0.000 0.996 0.004
Q56.4 Indeterminate sex, unspecified
0.000 0.996 0.004
Q56.3 Pseudohermaphroditism, unspecified
0.000 0.996 0.004
Q56.2 Female pseudohermaphroditism, not elsewhere classified
0.000 0.996 0.004
Q56.1 Male pseudohermaphroditism, not elsewhere classified
0.000 0.996 0.004
Q56.0 Hermaphroditism, not elsewhere classified
0.000 0.996 0.004
Q37 Cleft palate with cleft lip
0.000 0.996 0.004
Q25.9 Congenital malformation of great arteries, unspecified
0.000 0.996 0.004
Q25.8 Other congenital malformations of great arteries
0.000 0.996 0.004
Q25.5 Atresia of pulmonary artery
0.000 0.996 0.004
Q25.2 Atresia of aorta
0.000 0.996 0.004
Q55.6 Other congenital malformations of penis
0.000 0.996 0.004
Q91.7 Patau's syndrome, unspecified
0.000 0.996 0.004
Q91.6 Trisomy 13, translocation
0.000 0.996 0.004
Q91.5 Trisomy 13, mosaicism (mitotic nondisjunction)
0.000 0.996 0.004
Q91.4 Trisomy 13, meiotic nondisjunction
0.000 0.996 0.004
Q91.3 Edwards' syndrome, unspecified
0.000 0.996 0.004
Q91.2 Trisomy 18, translocation
0.000 0.996 0.004
Q91.1 Trisomy 18, mosaicism (mitotic nondisjunction)
0.000 0.996 0.004
Q91.0 Trisomy 18, meiotic nondisjunction
0.000 0.996 0.004
Q92.9 Trisomy and partial trisomy of autosomes, unspecified
0.000 0.996 0.004
Q92.8 Other specified trisomies and partial trisomies of autosomes
0.000 0.996 0.004
Q92.7 Triploidy and polyploidy
0.000 0.996 0.004
Q92.6 Extra marker chromosomes
0.000 0.996 0.004
Q92.5 Duplications with other complex rearrangements
0.000 0.996 0.004
Q92.4 Duplications seen only at prometaphase
0.000 0.996 0.004
Q92.3 Minor partial trisomy
0.000 0.996 0.004
Q92.2 Major partial trisomy
0.000 0.996 0.004
Q92.1 Whole chromosome trisomy, mosaicism (mitotic nondisjunction)
0.000 0.996 0.004
Q92.0 Whole chromosome trisomy, meiotic nondisjunction
0.000 0.996 0.004
Q93.9 Deletion from autosomes, unspecified
0.000 0.996 0.004
Q93.8 Other deletions from the autosomes
0.000 0.996 0.004
Q93.7 Deletions with other complex rearrangements
0.000 0.996 0.004
Q93.6 Deletions seen only at prometaphase
0.000 0.996 0.004
Q93.5 Other deletions of part of a chromosome
0.000 0.996 0.004
Q93.4 Deletion of short arm of chromosome 5
0.000 0.996 0.004
Q93.3 Deletion of short arm of chromosome 4
0.000 0.996 0.004
Q93.2 Chromosome replaced with ring or dicentric
0.000 0.996 0.004
Q93.1 Whole chromosome monosomy, mosaicism (mitotic nondisjunction)
0.000 0.996 0.004
Q93.0 Whole chromosome monosomy, meiotic nondisjunction
0.000 0.996 0.004
Q95.9 Balanced rearrangement and structural marker, unspecified
0.000 0.996 0.004
Q95.8 Other balanced rearrangements and structural markers
0.000 0.996 0.004
Q95.5 Individuals with autosomal fragile site
0.000 0.996 0.004
Q95.4 Individuals with marker heterochromatin
0.000 0.996 0.004
Q95.3 Balanced sex/autosomal rearrangement in abnormal individual
0.000 0.996 0.004
Q95.2 Balanced autosomal rearrangement in abnormal individual
0.000 0.996 0.004
Q95.1 Chromosome inversion in normal individual
0.000 0.996 0.004
Q95.0 Balanced translocation and insertion in normal individual
0.000 0.996 0.004
Q97.9 Sex chromosome abnormality, female phenotype, unspecified
0.000 0.996 0.004
Q97.8 Other specified sex chromosome abnormalities, female phenotype
0.000 0.996 0.004
Q97.3 Female with 46,XY karyotype
0.000 0.996 0.004
Q97.2 Mosaicism, lines with various numbers of X chromosomes
0.000 0.996 0.004
Q97.1 Female with more than three X chromosomes
0.000 0.996 0.004
Q97.0 Karyotype 47,XXX
0.000 0.996 0.004
C71 Malignant neoplasm of brain
0.004 0.996 0.000
Q99.9 Chromosomal abnormality, unspecified
0.000 0.996 0.004
Q99.2 Fragile X chromosome
0.000 0.996 0.004
Q99.1 46,XX true hermaphrodite
0.000 0.996 0.004
Q99.0 Chimera 46,XX/46,XY
0.000 0.996 0.004
Q27 Other congenital malformations of peripheral vascular system
0.000 0.996 0.004
Q62 Congenital obstructive defects of renal pelvis and congenital malformations of ureter
0.001 0.996 0.004
Q67 Congenital musculoskeletal deformities of head, face, spine and chest
0.000 0.996 0.004
Q75.9 Congenital malformation of skull and face bones, unspecified
0.000 0.996 0.004
Q75.8 Other specified congenital malformations of skull and face bones
0.000 0.996 0.004
Q75.5 Oculomandibular dysostosis
0.000 0.996 0.004
Q75.3 Macrocephaly
0.000 0.996 0.004
Q75.2 Hypertelorism
0.000 0.996 0.004
Q75.1 Craniofacial dysostosis
0.000 0.996 0.004
Q75.0 Craniosynostosis
0.000 0.996 0.004
Q15 Other congenital malformations of eye
0.000 0.996 0.004
Q90.2 Trisomy 21, translocation
0.000 0.996 0.004
Q90.1 Trisomy 21, mosaicism (mitotic nondisjunction)
0.000 0.996 0.004
Q90.0 Trisomy 21, meiotic nondisjunction
0.000 0.996 0.004
Q77.9 Osteochondrodysplasia with defects of growth of tubular bones and spine, unspecified
0.000 0.996 0.004
Q77.8 Other osteochondrodysplasia with defects of growth of tubular bones and spine
0.000 0.996 0.004
Q77.7 Spondyloepiphyseal dysplasia
0.000 0.996 0.004
Q77.6 Chondroectodermal dysplasia
0.000 0.996 0.004
Q77.5 Diastrophic dysplasia
0.000 0.996 0.004
Q77.3 Chondrodysplasia punctata
0.000 0.996 0.004
Q77.2 Short rib syndrome
0.000 0.996 0.004
Q77.1 Thanatophoric short stature
0.000 0.996 0.004
Q77.0 Achondrogenesis
0.000 0.996 0.004
Q14 Congenital malformations of posterior segment of eye
0.000 0.996 0.004
G91.1 Obstructive hydrocephalus
0.000 0.996 0.004
Q99.8 Other specified chromosome abnormalities
0.000 0.996 0.004
Q22 Congenital malformations of pulmonary and tricuspid valves
0.000 0.996 0.004
K65-K67 Diseases of peritoneum
0.000 0.996 0.004
Q55.9 Congenital malformation of male genital organ, unspecified
0.000 0.996 0.004
Q55.8 Other specified congenital malformations of male genital organs
0.000 0.996 0.004
Q55.5 Congenital absence and aplasia of penis
0.000 0.996 0.004
Q55.3 Atresia of vas deferens
0.000 0.996 0.004
Q55.1 Hypoplasia of testis and scrotum
0.000 0.996 0.004
Q90.9 Down's syndrome, unspecified
0.000 0.996 0.004
L53 Other erythematous conditions
0.000 0.996 0.004
C71.1 Frontal lobe
0.004 0.996 0.000
Q60.3 Renal hypoplasia, unilateral
0.000 0.996 0.004
Q64.4 Malformation of urachus
0.000 0.996 0.004
Q76 Congenital malformations of spine and bony thorax
0.000 0.996 0.004
Q79.9 Congenital malformation of musculoskeletal system, unspecified
0.000 0.996 0.004
Q79.5 Other congenital malformations of abdominal wall
0.000 0.996 0.004
Q79.4 Prune belly syndrome
0.000 0.996 0.004
Q79.3 Gastroschisis
0.000 0.996 0.004
Q79.2 Exomphalos
0.000 0.996 0.004
Q79.0 Congenital diaphragmatic hernia
0.000 0.996 0.004
Q79.8 Other congenital malformations of musculoskeletal system
0.000 0.996 0.004
Q80-Q89 Other congenital malformations
0.000 0.996 0.004
Q21 Congenital malformations of cardiac septa
0.000 0.996 0.004
C71.0 Cerebrum, except lobes and ventricles
0.004 0.996 0.000
Q55.4 Other congenital malformations of vas deferens, epididymis, seminal vesicles and prostate
0.000 0.996 0.004
Q60.6 Potter's syndrome
0.000 0.996 0.004
Q60.5 Renal hypoplasia, unspecified
0.000 0.996 0.004
Q60.4 Renal hypoplasia, bilateral
0.000 0.996 0.004
Q60.1 Renal agenesis, bilateral
0.000 0.996 0.004
Q27.9 Congenital malformation of peripheral vascular system, unspecified
0.000 0.996 0.004
Q60.2 Renal agenesis, unspecified
0.000 0.996 0.004
Q52 Other congenital malformations of female genitalia
0.000 0.996 0.003
J39.2 Other diseases of pharynx
0.004 0.996 0.000
Q31.0 Web of larynx
0.000 0.996 0.004
Q75.4 Mandibulofacial dysostosis
0.000 0.996 0.004
Q55.0 Absence and aplasia of testis
0.000 0.996 0.004
A41 Other septicaemia
0.004 0.996 0.000
Q12.9 Congenital lens malformation, unspecified
0.000 0.996 0.004
Q12.8 Other congenital lens malformations
0.000 0.996 0.004
Q12.4 Spherophakia
0.000 0.996 0.004
Q12.3 Congenital aphakia
0.000 0.996 0.004
Q12.2 Coloboma of lens
0.000 0.996 0.004
Q12.1 Congenital displaced lens
0.000 0.996 0.004
Q26.4 Anomalous pulmonary venous connexion, unspecified
0.000 0.996 0.004
Q17 Other congenital malformations of ear
0.000 0.996 0.003
Q21.0 Ventricular septal defect
0.000 0.996 0.004
Q79.6 Ehlers-Danlos syndrome
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
Q55.2 Other congenital malformations of testis and scrotum
0.000 0.996 0.004
Q77.4 Achondroplasia
0.000 0.996 0.003
Q32.4 Other congenital malformations of bronchus
0.000 0.996 0.003
Q32.3 Congenital stenosis of bronchus
0.000 0.996 0.003
Q32.2 Congenital bronchomalacia
0.000 0.996 0.003
Q32.1 Other congenital malformations of trachea
0.000 0.996 0.003
Q32.0 Congenital tracheomalacia
0.000 0.996 0.003
Q33.9 Congenital malformation of lung, unspecified
0.000 0.996 0.003
Q33.8 Other congenital malformations of lung
0.000 0.996 0.003
Q33.6 Hypoplasia and dysplasia of lung
0.000 0.996 0.003
Q33.5 Ectopic tissue in lung
0.000 0.996 0.003
Q33.4 Congenital bronchiectasis
0.000 0.996 0.003
Q33.3 Agenesis of lung
0.000 0.996 0.003
Q33.2 Sequestration of lung
0.000 0.996 0.003
Q33.1 Accessory lobe of lung
0.000 0.996 0.003
Q33.0 Congenital cystic lung
0.000 0.996 0.003
Q34.9 Congenital malformation of respiratory system, unspecified
0.000 0.996 0.003
Q34.8 Other specified congenital malformations of respiratory system
0.000 0.996 0.003
Q34.1 Congenital cyst of mediastinum
0.000 0.996 0.003
Q34.0 Anomaly of pleura
0.000 0.996 0.003
S62.3 Fracture of other metacarpal bone
0.000 0.996 0.004
Q18 Other congenital malformations of face and neck
0.000 0.996 0.004
Q11.1 Other anophthalmos
0.000 0.996 0.004
Q25.6 Stenosis of pulmonary artery
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
Q31.3 Laryngocele
0.000 0.996 0.003
Q50.5 Embryonic cyst of broad ligament
0.000 0.996 0.004
Q10 Congenital malformations of eyelid, lachrymal apparatus and orbit
0.001 0.996 0.003
S62.31 Fracture of other metacarpal bone (open)
0.000 0.996 0.004
C71.5 Cerebral ventricle
0.004 0.996 0.000
Q20.9 Congenital malformation of cardiac chambers and connexions, unspecified
0.000 0.996 0.003
Q20.8 Other congenital malformations of cardiac chambers and connexions
0.000 0.996 0.003
Q20.6 Isomerism of atrial appendages
0.000 0.996 0.003

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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