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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

rs12044355
log Bayes Factor = 0.156589
Chromosome 1   position 231,844,347  (GRCh37) Explore rs12044355 on Ensembl!
Variant rs12044355 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
  
Q61 Cystic kidney disease
0.000 0.614 0.386
Q61.2 Polycystic kidney, adult type
0.000 0.616 0.384
Q61.0 Congenital single renal cyst
0.000 0.631 0.369
Q61.3 Polycystic kidney, unspecified
0.000 0.635 0.365
Q61.9 Cystic kidney disease, unspecified
0.000 0.670 0.330
Q61.5 Medullary cystic kidney
0.000 0.699 0.301
Q61.8 Other cystic kidney diseases
0.000 0.723 0.276
Q61.1 Polycystic kidney, infantile type
0.000 0.723 0.276
Q61.4 Renal dysplasia
0.000 0.724 0.276
Q60-Q64 Congenital malformations of the urinary system
0.000 0.789 0.211
Q21.1 Atrial septal defect
0.000 0.826 0.174
Chapter XVII Congenital malformations, deformations and chromosomal abnormalities
0.000 0.829 0.171
Q21 Congenital malformations of cardiac septa
0.000 0.830 0.170
Q20-Q28 Congenital malformations of the circulatory system
0.000 0.831 0.169
Q64 Other congenital malformations of urinary system
0.000 0.849 0.151
Q27 Other congenital malformations of peripheral vascular system
0.000 0.852 0.148
Q00-Q07 Congenital malformations of the nervous system
0.000 0.859 0.141
Q63 Other congenital malformations of kidney
0.000 0.862 0.138
Q23 Congenital malformations of aortic and mitral valves
0.000 0.870 0.130
Q65-Q79 Congenital malformations and deformations of the musculoskeletal system
0.000 0.871 0.129
Q50-Q56 Congenital malformations of genital organs
0.000 0.873 0.127
Q38-Q45 Other congenital malformations of the digestive system
0.000 0.873 0.127
Q21.0 Ventricular septal defect
0.000 0.874 0.126
Q27.9 Congenital malformation of peripheral vascular system, unspecified
0.000 0.874 0.126
Q62 Congenital obstructive defects of renal pelvis and congenital malformations of ureter
0.000 0.875 0.125
Q21.8 Other congenital malformations of cardiac septa
0.000 0.878 0.122
Q21.4 Aortopulmonary septal defect
0.000 0.878 0.122
Q21.2 Atrioventricular septal defect
0.000 0.878 0.122
Q21.9 Congenital malformation of cardiac septum, unspecified
0.000 0.878 0.122
Q26 Congenital malformations of great veins
0.000 0.878 0.122
Q20 Congenital malformations of cardiac chambers and connexions
0.000 0.878 0.122
Q35-Q37 Cleft lip and cleft palate
0.000 0.880 0.120
Q90-Q99 Chromosomal abnormalities, not elsewhere classified
0.000 0.881 0.118
Q27.3 Peripheral arteriovenous malformation
0.000 0.884 0.116
Q22 Congenital malformations of pulmonary and tricuspid valves
0.000 0.885 0.115
Q05 Spina bifida
0.000 0.886 0.114
Q67 Congenital musculoskeletal deformities of head, face, spine and chest
0.000 0.888 0.112
Q30-Q34 Congenital malformations of the respiratory system
0.000 0.889 0.111
Q63.1 Lobulated, fused and horseshoe kidney
0.000 0.890 0.110
Q28 Other congenital malformations of circulatory system
0.000 0.890 0.110
Q04 Other congenital malformations of brain
0.000 0.890 0.110
Q60 Renal agenesis and other reduction defects of kidney
0.000 0.890 0.109
Q27.8 Other specified congenital malformations of peripheral vascular system
0.000 0.891 0.109
Q44 Congenital malformations of gallbladder, bile ducts and liver
0.000 0.891 0.109
Q64.9 Congenital malformation of urinary system, unspecified
0.000 0.891 0.108
Q64.8 Other specified congenital malformations of urinary system
0.000 0.891 0.108
Q64.6 Congenital diverticulum of bladder
0.000 0.891 0.108
Q64.5 Congenital absence of bladder and urethra
0.000 0.891 0.108
Q64.4 Malformation of urachus
0.000 0.891 0.108
Q64.2 Congenital posterior urethral valves
0.000 0.891 0.108
Q64.1 Exstrophy of urinary bladder
0.000 0.891 0.108
Q64.0 Epispadias
0.000 0.891 0.108
Q64.7 Other congenital malformations of bladder and urethra
0.000 0.891 0.108
Q64.3 Other atresia and stenosis of urethra and bladder neck
0.000 0.892 0.108
Q07 Other congenital malformations of nervous system
0.000 0.894 0.106
Q27.4 Congenital phlebectasia
0.000 0.894 0.106
Q27.2 Other congenital malformations of renal artery
0.000 0.894 0.106
Q27.1 Congenital renal artery stenosis
0.000 0.894 0.106
Q27.0 Congenital absence and hypoplasia of umbilical artery
0.000 0.894 0.106
Q24 Other congenital malformations of heart
0.000 0.895 0.105
Q54 Hypospadias
0.000 0.897 0.103
Q80-Q89 Other congenital malformations
0.000 0.898 0.102
Q74 Other congenital malformations of limb(s)
0.000 0.898 0.102
Q25 Congenital malformations of great arteries
0.000 0.899 0.101
Q06 Other congenital malformations of spinal cord
0.000 0.899 0.101
Q01 Encephalocele
0.000 0.899 0.101
Q00 Anencephaly and similar malformations
0.000 0.899 0.101
Q02 Microcephaly
0.000 0.899 0.101
Q23.1 Congenital insufficiency of aortic valve
0.000 0.899 0.101
Q39 Congenital malformations of oesophagus
0.000 0.899 0.101
Q63.2 Ectopic kidney
0.000 0.900 0.100
Q52 Other congenital malformations of female genitalia
0.000 0.901 0.099
Q63.9 Congenital malformation of kidney, unspecified
0.000 0.901 0.099
Q63.3 Hyperplastic and giant kidney
0.000 0.901 0.099
Q55 Other congenital malformations of male genital organs
0.000 0.903 0.097
M19.01 Primary arthrosis of other joints (Shoulder region)
0.097 0.903 0.000
Q21.3 Tetralogy of Fallot
0.000 0.904 0.096
Q23.3 Congenital mitral insufficiency
0.000 0.904 0.096
Q67.5 Congenital deformity of spine
0.000 0.905 0.095
Q03 Congenital hydrocephalus
0.000 0.905 0.094
Q05.9 Spina bifida, unspecified
0.000 0.906 0.094
Q44.6 Cystic disease of liver
0.000 0.906 0.093
Q23.9 Congenital malformation of aortic and mitral valves, unspecified
0.000 0.907 0.093
Q23.8 Other congenital malformations of aortic and mitral valves
0.000 0.907 0.093
Q23.4 Hypoplastic left heart syndrome
0.000 0.907 0.093
Q23.2 Congenital mitral stenosis
0.000 0.907 0.093
Q77 Osteochondrodysplasia with defects of growth of tubular bones and spine
0.000 0.907 0.092
Q75 Other congenital malformations of skull and face bones
0.000 0.907 0.092
Q73 Reduction defects of unspecified limb
0.000 0.907 0.092
Q72 Reduction defects of lower limb
0.000 0.907 0.092
Q71 Reduction defects of upper limb
0.000 0.907 0.092
Q70 Syndactyly
0.000 0.907 0.092
Q69 Polydactyly
0.000 0.907 0.092
Q23.0 Congenital stenosis of aortic valve
0.000 0.908 0.092
Q04.6 Congenital cerebral cysts
0.000 0.908 0.092
Q56 Indeterminate sex and pseudohermaphroditism
0.000 0.908 0.091
Q45 Other congenital malformations of digestive system
0.000 0.908 0.091
Q50 Congenital malformations of ovaries, Fallopian tubes and broad ligaments
0.000 0.909 0.091
Q42 Congenital absence, atresia and stenosis of large intestine
0.000 0.909 0.091
Q41 Congenital absence, atresia and stenosis of small intestine
0.000 0.909 0.091
Q68 Other congenital musculoskeletal deformities
0.000 0.910 0.090
Q62.8 Other congenital malformations of ureter
0.000 0.910 0.089
Q62.7 Congenital vesico-uretero-renal reflux
0.000 0.910 0.089
Q62.6 Malposition of ureter
0.000 0.910 0.089
Q62.4 Agenesis of ureter
0.000 0.910 0.089
Q62.3 Other obstructive defects of renal pelvis and ureter
0.000 0.910 0.089
Q62.0 Congenital hydronephrosis
0.000 0.910 0.089
Q79 Congenital malformations of musculoskeletal system, not elsewhere classified
0.000 0.911 0.089
Q65 Congenital deformities of hip
0.000 0.911 0.089
Q54.9 Hypospadias, unspecified
0.000 0.911 0.089
Q67.4 Other congenital deformities of skull, face and jaw
0.000 0.912 0.088
Q90 Down's syndrome
0.000 0.912 0.088
Q37 Cleft palate with cleft lip
0.000 0.912 0.088
Q20.9 Congenital malformation of cardiac chambers and connexions, unspecified
0.000 0.912 0.087
Q20.8 Other congenital malformations of cardiac chambers and connexions
0.000 0.912 0.087
Q20.6 Isomerism of atrial appendages
0.000 0.912 0.087
Q20.5 Discordant atrioventricular connexion
0.000 0.912 0.087
Q20.4 Double inlet ventricle
0.000 0.912 0.087
Q20.3 Discordant ventriculoarterial connexion
0.000 0.912 0.087
Q20.2 Double outlet left ventricle
0.000 0.912 0.087
Q20.1 Double outlet right ventricle
0.000 0.912 0.087
Q20.0 Common arterial trunk
0.000 0.912 0.087
Q26.9 Congenital malformation of great vein, unspecified
0.000 0.912 0.087
Q26.8 Other congenital malformations of great veins
0.000 0.912 0.087
Q26.6 Portal vein-hepatic artery fistula
0.000 0.912 0.087
Q26.5 Anomalous portal venous connexion
0.000 0.912 0.087
Q26.4 Anomalous pulmonary venous connexion, unspecified
0.000 0.912 0.087
Q26.3 Partial anomalous pulmonary venous connexion
0.000 0.912 0.087
Q26.2 Total anomalous pulmonary venous connexion
0.000 0.912 0.087
Q26.1 Persistent left superior vena cava
0.000 0.912 0.087
Q26.0 Congenital stenosis of vena cava
0.000 0.912 0.087
Q62.1 Atresia and stenosis of ureter
0.000 0.913 0.087
Q78 Other osteochondrodysplasias
0.000 0.913 0.087
Q74.2 Other congenital malformations of lower limb(s), including pelvic girdle
0.000 0.913 0.087
Q36 Cleft lip
0.000 0.914 0.086
Q76 Congenital malformations of spine and bony thorax
0.000 0.914 0.086
Q38 Other congenital malformations of tongue, mouth and pharynx
0.000 0.914 0.086
Q99 Other chromosome abnormalities, not elsewhere classified
0.000 0.915 0.085
Q97 Other sex chromosome abnormalities, female phenotype, not elsewhere classified
0.000 0.915 0.085
Q95 Balanced rearrangements and structural markers, not elsewhere classified
0.000 0.915 0.085
Q93 Monosomies and deletions from the autosomes, not elsewhere classified
0.000 0.915 0.085
Q92 Other trisomies and partial trisomies of the autosomes, not elsewhere classified
0.000 0.915 0.085
Q91 Edwards' syndrome and Patau's syndrome
0.000 0.915 0.085
Q05.4 Unspecified spina bifida with hydrocephalus
0.000 0.915 0.085
Q98 Other sex chromosome abnormalities, male phenotype, not elsewhere classified
0.000 0.916 0.084
Q28.0 Arteriovenous malformation of precerebral vessels
0.000 0.916 0.084
Q07.0 Arnold-Chiari syndrome
0.000 0.916 0.084
Q53 Undescended testicle
0.000 0.916 0.083
Q63.0 Accessory kidney
0.000 0.917 0.083
Q44.5 Other congenital malformations of bile ducts
0.000 0.917 0.083
Q22.9 Congenital malformation of tricuspid valve, unspecified
0.000 0.917 0.082
Q22.8 Other congenital malformations of tricuspid valve
0.000 0.917 0.082
Q22.6 Hypoplastic right heart syndrome
0.000 0.917 0.082
Q22.5 Ebstein's anomaly
0.000 0.917 0.082
Q22.4 Congenital tricuspid stenosis
0.000 0.917 0.082
Q22.3 Other congenital malformations of pulmonary valve
0.000 0.917 0.082
Q22.2 Congenital pulmonary valve insufficiency
0.000 0.917 0.082
Q22.0 Pulmonary valve atresia
0.000 0.917 0.082
Q63.8 Other specified congenital malformations of kidney
0.000 0.918 0.082
Q05.8 Sacral spina bifida without hydrocephalus
0.000 0.918 0.082
Q05.6 Thoracic spina bifida without hydrocephalus
0.000 0.918 0.082
Q05.5 Cervical spina bifida without hydrocephalus
0.000 0.918 0.082
Q05.3 Sacral spina bifida with hydrocephalus
0.000 0.918 0.082
Q05.2 Lumbar spina bifida with hydrocephalus
0.000 0.918 0.082
Q05.1 Thoracic spina bifida with hydrocephalus
0.000 0.918 0.082
Q05.0 Cervical spina bifida with hydrocephalus
0.000 0.918 0.082
Q83 Congenital malformations of breast
0.000 0.918 0.081
Q67.6 Pectus excavatum
0.000 0.919 0.081
Q35 Cleft palate
0.000 0.919 0.081
Q52.5 Fusion of labia
0.000 0.919 0.081
Q39.6 Diverticulum of oesophagus
0.000 0.919 0.080
Q67.8 Other congenital deformities of chest
0.000 0.920 0.080
Q67.7 Pectus carinatum
0.000 0.920 0.080
Q67.3 Plagiocephaly
0.000 0.920 0.080
Q67.2 Dolichocephaly
0.000 0.920 0.080
Q67.1 Compression facies
0.000 0.920 0.080
Q67.0 Facial asymmetry
0.000 0.920 0.080
Q62.2 Congenital megaloureter
0.000 0.920 0.079
Q34 Other congenital malformations of respiratory system
0.000 0.920 0.080
Q33 Congenital malformations of lung
0.000 0.920 0.080
Q32 Congenital malformations of trachea and bronchus
0.000 0.920 0.080
Q62.5 Duplication of ureter
0.000 0.920 0.079
Q28.9 Congenital malformation of circulatory system, unspecified
0.000 0.921 0.079
Q28.8 Other specified congenital malformations of circulatory system
0.000 0.921 0.079
Q28.3 Other malformations of cerebral vessels
0.000 0.921 0.079
Q28.1 Other malformations of precerebral vessels
0.000 0.921 0.079
Q04.9 Congenital malformation of brain, unspecified
0.000 0.921 0.079
Q04.5 Megalencephaly
0.000 0.921 0.079
Q04.4 Septo-optic dysplasia
0.000 0.921 0.079
Q04.3 Other reduction deformities of brain
0.000 0.921 0.079
Q04.2 Holoprosencephaly
0.000 0.921 0.079
Q04.1 Arhinencephaly
0.000 0.921 0.079
Q04.0 Congenital malformations of corpus callosum
0.000 0.921 0.079
Q54.0 Hypospadias, balanic
0.000 0.921 0.079
Q55.6 Other congenital malformations of penis
0.000 0.921 0.079
Q60.6 Potter's syndrome
0.000 0.921 0.078
Q60.5 Renal hypoplasia, unspecified
0.000 0.921 0.078
Q60.4 Renal hypoplasia, bilateral
0.000 0.921 0.078
Q60.1 Renal agenesis, bilateral
0.000 0.921 0.078
Q66 Congenital deformities of feet
0.000 0.922 0.078
Q05.7 Lumbar spina bifida without hydrocephalus
0.000 0.922 0.078
Q44.7 Other congenital malformations of liver
0.000 0.922 0.078
Q44.4 Choledochal cyst
0.000 0.922 0.078
Q44.3 Congenital stenosis and stricture of bile ducts
0.000 0.922 0.078
Q44.2 Atresia of bile ducts
0.000 0.922 0.078
Q44.1 Other congenital malformations of gallbladder
0.000 0.922 0.078
Q44.0 Agenesis, aplasia and hypoplasia of gallbladder
0.000 0.922 0.078
Q96 Turner's syndrome
0.000 0.922 0.078
Q24.8 Other specified congenital malformations of heart
0.000 0.923 0.077
Q07.9 Congenital malformation of nervous system, unspecified
0.000 0.924 0.076
Q24.0 Dextrocardia
0.000 0.924 0.076
Q22.1 Congenital pulmonary valve stenosis
0.000 0.924 0.076
Q40 Other congenital malformations of upper alimentary tract
0.000 0.924 0.075
Q24.6 Congenital heart block
0.000 0.925 0.075
Q24.4 Congenital subaortic stenosis
0.000 0.925 0.075
Q24.3 Pulmonary infundibular stenosis
0.000 0.925 0.075
Q24.2 Cor triatriatum
0.000 0.925 0.075
Q24.1 Levocardia
0.000 0.925 0.075
Q60.0 Renal agenesis, unilateral
0.000 0.925 0.075
Q74.1 Congenital malformation of knee
0.000 0.925 0.075
Q39.4 Oesophageal web
0.000 0.925 0.075
Q30 Congenital malformations of nose
0.000 0.925 0.074
Q25.1 Coarctation of aorta
0.000 0.925 0.074
Q54.8 Other hypospadias
0.000 0.926 0.074
Q54.4 Congenital chordee
0.000 0.926 0.074
Q54.3 Hypospadias, perineal
0.000 0.926 0.074
Q54.2 Hypospadias, penoscrotal
0.000 0.926 0.074
Q31 Congenital malformations of larynx
0.000 0.926 0.074
Q04.8 Other specified congenital malformations of brain
0.000 0.926 0.074
Q87 Other specified congenital malformation syndromes affecting multiple systems
0.000 0.926 0.074
Q86 Congenital malformation syndromes due to known exogenous causes, not elsewhere classified
0.000 0.926 0.073
Q84 Other congenital malformations of integument
0.000 0.926 0.073
Q81 Epidermolysis bullosa
0.000 0.926 0.073
Q80 Congenital ichthyosis
0.000 0.926 0.073
Q07.8 Other specified congenital malformations of nervous system
0.000 0.927 0.073
Q74.9 Unspecified congenital malformation of limb(s)
0.000 0.927 0.073
Q74.8 Other specified congenital malformations of limb(s)
0.000 0.927 0.073
Q74.3 Arthrogryposis multiplex congenita
0.000 0.927 0.073
Q24.5 Malformation of coronary vessels
0.000 0.927 0.073
Q25.0 Patent ductus arteriosus
0.000 0.927 0.073
Q25.9 Congenital malformation of great arteries, unspecified
0.000 0.927 0.073
Q25.8 Other congenital malformations of great arteries
0.000 0.927 0.073
Q25.7 Other congenital malformations of pulmonary artery
0.000 0.927 0.073
Q25.5 Atresia of pulmonary artery
0.000 0.927 0.073
Q25.2 Atresia of aorta
0.000 0.927 0.073
Q43 Other congenital malformations of intestine
0.000 0.927 0.073
Q00.2 Iniencephaly
0.000 0.927 0.073
Q00.1 Craniorachischisis
0.000 0.927 0.073
Q00.0 Anencephaly
0.000 0.927 0.073
Q01.9 Encephalocele, unspecified
0.000 0.927 0.073
Q01.8 Encephalocele of other sites
0.000 0.927 0.073
Q01.2 Occipital encephalocele
0.000 0.927 0.073
Q01.1 Nasofrontal encephalocele
0.000 0.927 0.073
Q01.0 Frontal encephalocele
0.000 0.927 0.073
Q06.9 Congenital malformation of spinal cord, unspecified
0.000 0.927 0.073
Q06.8 Other specified congenital malformations of spinal cord
0.000 0.927 0.073
Q06.4 Hydromyelia
0.000 0.927 0.073
Q06.3 Other congenital cauda equina malformations
0.000 0.927 0.073
Q06.2 Diastematomyelia
0.000 0.927 0.073
Q06.1 Hypoplasia and dysplasia of spinal cord
0.000 0.927 0.073
Q06.0 Amyelia
0.000 0.927 0.073
Q39.9 Congenital malformation of oesophagus, unspecified
0.000 0.927 0.072
Q39.8 Other congenital malformations of oesophagus
0.000 0.927 0.072
Q39.5 Congenital dilatation of oesophagus
0.000 0.927 0.072
Q39.3 Congenital stenosis and stricture of oesophagus
0.000 0.927 0.072
Q39.2 Congenital tracheooesophageal fistula without atresia
0.000 0.927 0.072
Q39.1 Atresia of oesophagus with tracheooesophageal fistula
0.000 0.927 0.072
Q39.0 Atresia of oesophagus without fistula
0.000 0.927 0.072
Q55.2 Other congenital malformations of testis and scrotum
0.000 0.928 0.071
Q52.9 Congenital malformation of female genitalia, unspecified
0.000 0.929 0.071
Q52.8 Other specified congenital malformations of female genitalia
0.000 0.929 0.071
Q52.7 Other congenital malformations of vulva
0.000 0.929 0.071
Q52.6 Congenital malformation of clitoris
0.000 0.929 0.071
Q52.4 Other congenital malformations of vagina
0.000 0.929 0.071
Q52.3 Imperforate hymen
0.000 0.929 0.071
Q52.2 Congenital rectovaginal fistula
0.000 0.929 0.071
Q52.0 Congenital absence of vagina
0.000 0.929 0.071
Q60.3 Renal hypoplasia, unilateral
0.000 0.929 0.071
Q51 Congenital malformations of uterus and cervix
0.000 0.929 0.071
Q25.3 Stenosis of aorta
0.000 0.929 0.071
Q55.9 Congenital malformation of male genital organ, unspecified
0.000 0.930 0.070
Q55.8 Other specified congenital malformations of male genital organs
0.000 0.930 0.070
Q55.5 Congenital absence and aplasia of penis
0.000 0.930 0.070
Q55.4 Other congenital malformations of vas deferens, epididymis, seminal vesicles and prostate
0.000 0.930 0.070
Q55.3 Atresia of vas deferens
0.000 0.930 0.070
Q55.1 Hypoplasia of testis and scrotum
0.000 0.930 0.070
Q52.1 Doubling of vagina
0.000 0.932 0.068
Q03.9 Congenital hydrocephalus, unspecified
0.000 0.932 0.068
Q03.8 Other congenital hydrocephalus
0.000 0.932 0.068
Q03.1 Atresia of foramina of Magendie and Luschka
0.000 0.932 0.068
Q65.8 Other congenital deformities of hip
0.000 0.932 0.068
Q50.4 Embryonic cyst of Fallopian tube
0.000 0.933 0.067
Q90.9 Down's syndrome, unspecified
0.000 0.933 0.067
Q25.6 Stenosis of pulmonary artery
0.000 0.933 0.066
Q69.9 Polydactyly, unspecified
0.000 0.933 0.066
Q69.2 Accessory toe(s)
0.000 0.933 0.066
Q69.1 Accessory thumb(s)
0.000 0.933 0.066
Q69.0 Accessory finger(s)
0.000 0.933 0.066
Q70.9 Syndactyly, unspecified
0.000 0.933 0.066
Q70.4 Polysyndactyly
0.000 0.933 0.066
Q70.3 Webbed toes
0.000 0.933 0.066
Q70.2 Fused toes
0.000 0.933 0.066
Q70.1 Webbed fingers
0.000 0.933 0.066
Q70.0 Fused fingers
0.000 0.933 0.066
Q71.9 Reduction defect of upper limb, unspecified
0.000 0.933 0.066
Q71.8 Other reduction defects of upper limb(s)
0.000 0.933 0.066
Q71.6 Lobster-claw hand
0.000 0.933 0.066
Q71.5 Longitudinal reduction defect of ulna
0.000 0.933 0.066
Q71.4 Longitudinal reduction defect of radius
0.000 0.933 0.066
Q71.3 Congenital absence of hand and finger(s)
0.000 0.933 0.066
Q71.2 Congenital absence of both forearm and hand
0.000 0.933 0.066
Q71.1 Congenital absence of upper arm and forearm with hand present
0.000 0.933 0.066
Q71.0 Congenital complete absence of upper limb(s)
0.000 0.933 0.066
Q72.9 Reduction defect of lower limb, unspecified
0.000 0.933 0.066
Q72.8 Other reduction defects of lower limb(s)
0.000 0.933 0.066
Q72.7 Split foot
0.000 0.933 0.066
Q72.6 Longitudinal reduction defect of fibula
0.000 0.933 0.066
Q72.5 Longitudinal reduction defect of tibia
0.000 0.933 0.066
Q72.4 Longitudinal reduction defect of femur
0.000 0.933 0.066
Q72.3 Congenital absence of foot and toe(s)
0.000 0.933 0.066
Q72.2 Congenital absence of both lower leg and foot
0.000 0.933 0.066
Q72.1 Congenital absence of thigh and lower leg with foot present
0.000 0.933 0.066
Q72.0 Congenital complete absence of lower limb(s)
0.000 0.933 0.066
Q73.8 Other reduction defects of unspecified limb(s)
0.000 0.933 0.066
Q73.1 Phocomelia, unspecified limb(s)
0.000 0.933 0.066
Q73.0 Congenital absence of unspecified limb(s)
0.000 0.933 0.066
Q75.9 Congenital malformation of skull and face bones, unspecified
0.000 0.933 0.066
Q75.8 Other specified congenital malformations of skull and face bones
0.000 0.933 0.066
Q75.5 Oculomandibular dysostosis
0.000 0.933 0.066
Q75.4 Mandibulofacial dysostosis
0.000 0.933 0.066
Q75.3 Macrocephaly
0.000 0.933 0.066
Q75.2 Hypertelorism
0.000 0.933 0.066
Q75.1 Craniofacial dysostosis
0.000 0.933 0.066
Q75.0 Craniosynostosis
0.000 0.933 0.066
Q77.9 Osteochondrodysplasia with defects of growth of tubular bones and spine, unspecified
0.000 0.933 0.066
Q77.8 Other osteochondrodysplasia with defects of growth of tubular bones and spine
0.000 0.933 0.066
Q77.7 Spondyloepiphyseal dysplasia
0.000 0.933 0.066
Q77.6 Chondroectodermal dysplasia
0.000 0.933 0.066
Q77.5 Diastrophic dysplasia
0.000 0.933 0.066
Q77.4 Achondroplasia
0.000 0.933 0.066
Q77.3 Chondrodysplasia punctata
0.000 0.933 0.066
Q77.2 Short rib syndrome
0.000 0.933 0.066
Q77.1 Thanatophoric short stature
0.000 0.933 0.066
Q77.0 Achondrogenesis
0.000 0.933 0.066
Q45.8 Other specified congenital malformations of digestive system
0.000 0.933 0.066
Q83.1 Accessory breast
0.000 0.934 0.066
Q89 Other congenital malformations, not elsewhere classified
0.000 0.934 0.066
Q56.4 Indeterminate sex, unspecified
0.000 0.934 0.066
Q56.3 Pseudohermaphroditism, unspecified
0.000 0.934 0.066
Q56.2 Female pseudohermaphroditism, not elsewhere classified
0.000 0.934 0.066
Q56.1 Male pseudohermaphroditism, not elsewhere classified
0.000 0.934 0.066
Q56.0 Hermaphroditism, not elsewhere classified
0.000 0.934 0.066
Q45.9 Congenital malformation of digestive system, unspecified
0.000 0.934 0.066
Q45.3 Other congenital malformations of pancreas and pancreatic duct
0.000 0.934 0.066
Q45.2 Congenital pancreatic cyst
0.000 0.934 0.066
Q45.1 Annular pancreas
0.000 0.934 0.066
Q45.0 Agenesis, aplasia and hypoplasia of pancreas
0.000 0.934 0.066
Q50.6 Other congenital malformatons of Fallopian tube and broad ligament
0.000 0.934 0.066
Q50.3 Other congenital malformations of ovary
0.000 0.934 0.066
Q50.2 Congenital torsion of ovary
0.000 0.934 0.066
Q50.1 Developmental ovarian cyst
0.000 0.934 0.066
Q50.0 Congenital absence of ovary
0.000 0.934 0.066
Q41.9 Congenital absence, atresia and stenosis of small intestine, part unspecified
0.000 0.934 0.065
Q41.8 Congenital absence, atresia and stenosis of other specified parts of small intestine
0.000 0.934 0.065
Q41.2 Congenital absence, atresia and stenosis of ileum
0.000 0.934 0.065
Q41.1 Congenital absence, atresia and stenosis of jejunum
0.000 0.934 0.065
Q41.0 Congenital absence, atresia and stenosis of duodenum
0.000 0.934 0.065
Q42.9 Congenital absence, atresia and stenosis of large intestine, part unspecified
0.000 0.934 0.065
Q42.8 Congenital absence, atresia and stenosis of other parts of large intestine
0.000 0.934 0.065
Q42.3 Congenital absence, atresia and stenosis of anus without fistula
0.000 0.934 0.065
Q42.2 Congenital absence, atresia and stenosis of anus with fistula
0.000 0.934 0.065
Q42.1 Congenital absence, atresia and stenosis of rectum without fistula
0.000 0.934 0.065
Q42.0 Congenital absence, atresia and stenosis of rectum with fistula
0.000 0.934 0.065
Q66.7 Pes cavus
0.000 0.935 0.065
Q37.9 Unspecified cleft palate with unilateral cleft lip
0.000 0.935 0.065
Q68.5 Congenital bowing of long bones of leg, unspecified
0.000 0.935 0.064
Q68.4 Congenital bowing of tibia and fibula
0.000 0.935 0.064
Q68.3 Congenital bowing of femur
0.000 0.935 0.064
Q68.2 Congenital deformity of knee
0.000 0.935 0.064
Q68.1 Congenital deformity of hand
0.000 0.935 0.064
Q68.0 Congenital deformity of sternocleidomastoid muscle
0.000 0.935 0.064
Q38.7 Pharyngeal pouch
0.000 0.935 0.064
Q79.9 Congenital malformation of musculoskeletal system, unspecified
0.000 0.936 0.064
Q79.5 Other congenital malformations of abdominal wall
0.000 0.936 0.064
Q79.4 Prune belly syndrome
0.000 0.936 0.064
Q79.3 Gastroschisis
0.000 0.936 0.064
Q79.2 Exomphalos
0.000 0.936 0.064
Q79.1 Other congenital malformations of diaphragm
0.000 0.936 0.064
Q79.0 Congenital diaphragmatic hernia
0.000 0.936 0.064
Q65.9 Congenital deformity of hip, unspecified
0.000 0.936 0.064
Q65.6 Unstable hip
0.000 0.936 0.064
Q65.5 Congenital subluxation of hip, unspecified
0.000 0.936 0.064
Q65.4 Congenital subluxation of hip, bilateral
0.000 0.936 0.064
Q65.3 Congenital subluxation of hip, unilateral
0.000 0.936 0.064
Q65.1 Congenital dislocation of hip, bilateral
0.000 0.936 0.064
Q65.0 Congenital dislocation of hip, unilateral
0.000 0.936 0.064
Q85 Phakomatoses, not elsewhere classified
0.000 0.936 0.064
Q79.8 Other congenital malformations of musculoskeletal system
0.000 0.936 0.064
Q50.5 Embryonic cyst of broad ligament
0.000 0.936 0.064
Q43.0 Meckel's diverticulum
0.000 0.936 0.064
Q53.1 Undescended testicle, unilateral
0.000 0.936 0.064
Q90.2 Trisomy 21, translocation
0.000 0.936 0.063
Q90.1 Trisomy 21, mosaicism (mitotic nondisjunction)
0.000 0.936 0.063
Q90.0 Trisomy 21, meiotic nondisjunction
0.000 0.936 0.063
Q76.1 Klippel-Feil syndrome
0.000 0.936 0.063
Q55.0 Absence and aplasia of testis
0.000 0.937 0.063
Q37.8 Unspecified cleft palate with bilateral cleft lip
0.000 0.937 0.063
Q37.5 Cleft hard and soft palate with unilateral cleft lip
0.000 0.937 0.063
Q37.4 Cleft hard and soft palate with bilateral cleft lip
0.000 0.937 0.063
Q37.3 Cleft soft palate with unilateral cleft lip
0.000 0.937 0.063
Q37.2 Cleft soft palate with bilateral cleft lip
0.000 0.937 0.063
Q37.1 Cleft hard palate with unilateral cleft lip
0.000 0.937 0.063
Q37.0 Cleft hard palate with bilateral cleft lip
0.000 0.937 0.063
Q74.0 Other congenital malformations of upper limb(s), including shoulder girdle
0.000 0.937 0.063
Q78.9 Osteochondrodysplasia, unspecified
0.000 0.937 0.062
Q78.8 Other specified osteochondrodysplasias
0.000 0.937 0.062
Q78.6 Multiple congenital exostoses
0.000 0.937 0.062
Q78.5 Metaphyseal dysplasia
0.000 0.937 0.062
Q78.4 Enchondromatosis
0.000 0.937 0.062
Q78.3 Progressive diaphyseal dysplasia
0.000 0.937 0.062
Q78.1 Polyostotic fibrous dysplasia
0.000 0.937 0.062
Q36.9 Cleft lip, unilateral
0.000 0.938 0.062
Q36.1 Cleft lip, medial
0.000 0.938 0.062
Q36.0 Cleft lip, bilateral
0.000 0.938 0.062
Q68.8 Other specified congenital musculoskeletal deformities
0.000 0.938 0.062
Q76.9 Congenital malformation of bony thorax, unspecified
0.000 0.938 0.062
Q76.8 Other congenital malformations of bony thorax
0.000 0.938 0.062
Q76.7 Congenital malformation of sternum
0.000 0.938 0.062
Q76.6 Other congenital malformations of ribs
0.000 0.938 0.062
Q76.5 Cervical rib
0.000 0.938 0.062
Q76.3 Congenital scoliosis due to congenital bony malformation
0.000 0.938 0.062
Q76.2 Congenital spondylolisthesis
0.000 0.938 0.062
Q54.1 Hypospadias, penile
0.000 0.938 0.062
Q38.8 Other congenital malformations of pharynx
0.000 0.938 0.062
Q38.4 Congenital malformations of salivary glands and ducts
0.000 0.938 0.062
Q38.3 Other congenital malformations of tongue
0.000 0.938 0.062
Q38.2 Macroglossia
0.000 0.938 0.062
Q38.1 Ankyloglossia
0.000 0.938 0.062
Q38.0 Congenital malformations of lips, not elsewhere classified
0.000 0.938 0.062
Q78.0 Osteogenesis imperfecta
0.000 0.938 0.062
Q25.4 Other congenital malformations of aorta
0.000 0.938 0.061
Q03.0 Malformations of aqueduct of Sylvius
0.000 0.939 0.061
Q99.9 Chromosomal abnormality, unspecified
0.000 0.939 0.061
Q99.8 Other specified chromosome abnormalities
0.000 0.939 0.061
Q99.2 Fragile X chromosome
0.000 0.939 0.061
Q99.1 46,XX true hermaphrodite
0.000 0.939 0.061
Q99.0 Chimera 46,XX/46,XY
0.000 0.939 0.061
Q91.7 Patau's syndrome, unspecified
0.000 0.939 0.061
Q91.6 Trisomy 13, translocation
0.000 0.939 0.061
Q91.5 Trisomy 13, mosaicism (mitotic nondisjunction)
0.000 0.939 0.061
Q91.4 Trisomy 13, meiotic nondisjunction
0.000 0.939 0.061
Q91.3 Edwards' syndrome, unspecified
0.000 0.939 0.061
Q91.2 Trisomy 18, translocation
0.000 0.939 0.061
Q91.1 Trisomy 18, mosaicism (mitotic nondisjunction)
0.000 0.939 0.061
Q91.0 Trisomy 18, meiotic nondisjunction
0.000 0.939 0.061
Q92.9 Trisomy and partial trisomy of autosomes, unspecified
0.000 0.939 0.061
Q92.8 Other specified trisomies and partial trisomies of autosomes
0.000 0.939 0.061
Q92.7 Triploidy and polyploidy
0.000 0.939 0.061
Q92.6 Extra marker chromosomes
0.000 0.939 0.061
Q92.5 Duplications with other complex rearrangements
0.000 0.939 0.061
Q92.4 Duplications seen only at prometaphase
0.000 0.939 0.061
Q92.3 Minor partial trisomy
0.000 0.939 0.061
Q92.2 Major partial trisomy
0.000 0.939 0.061
Q92.1 Whole chromosome trisomy, mosaicism (mitotic nondisjunction)
0.000 0.939 0.061
Q92.0 Whole chromosome trisomy, meiotic nondisjunction
0.000 0.939 0.061
Q93.9 Deletion from autosomes, unspecified
0.000 0.939 0.061
Q93.8 Other deletions from the autosomes
0.000 0.939 0.061
Q93.7 Deletions with other complex rearrangements
0.000 0.939 0.061
Q93.6 Deletions seen only at prometaphase
0.000 0.939 0.061
Q93.5 Other deletions of part of a chromosome
0.000 0.939 0.061
Q93.4 Deletion of short arm of chromosome 5
0.000 0.939 0.061
Q93.3 Deletion of short arm of chromosome 4
0.000 0.939 0.061
Q93.2 Chromosome replaced with ring or dicentric
0.000 0.939 0.061
Q93.1 Whole chromosome monosomy, mosaicism (mitotic nondisjunction)
0.000 0.939 0.061
Q93.0 Whole chromosome monosomy, meiotic nondisjunction
0.000 0.939 0.061
Q95.9 Balanced rearrangement and structural marker, unspecified
0.000 0.939 0.061
Q95.8 Other balanced rearrangements and structural markers
0.000 0.939 0.061
Q95.5 Individuals with autosomal fragile site
0.000 0.939 0.061
Q95.4 Individuals with marker heterochromatin
0.000 0.939 0.061
Q95.3 Balanced sex/autosomal rearrangement in abnormal individual
0.000 0.939 0.061
Q95.2 Balanced autosomal rearrangement in abnormal individual
0.000 0.939 0.061
Q95.1 Chromosome inversion in normal individual
0.000 0.939 0.061
Q95.0 Balanced translocation and insertion in normal individual
0.000 0.939 0.061
Q97.9 Sex chromosome abnormality, female phenotype, unspecified
0.000 0.939 0.061
Q97.8 Other specified sex chromosome abnormalities, female phenotype
0.000 0.939 0.061
Q97.3 Female with 46,XY karyotype
0.000 0.939 0.061
Q97.2 Mosaicism, lines with various numbers of X chromosomes
0.000 0.939 0.061
Q97.1 Female with more than three X chromosomes
0.000 0.939 0.061
Q97.0 Karyotype 47,XXX
0.000 0.939 0.061
Q79.6 Ehlers-Danlos syndrome
0.000 0.939 0.061
Q76.4 Other congenital malformations of spine, not associated with scoliosis
0.000 0.939 0.061
Q98.9 Sex chromosome abnormality, male phenotype, unspecified
0.000 0.939 0.060
Q98.8 Other specified sex chromosome abnormalities, male phenotype
0.000 0.939 0.060
Q98.7 Male with sex chromosome mosaicism
0.000 0.939 0.060
Q98.6 Male with structurally abnormal sex chromosome
0.000 0.939 0.060
Q98.5 Karyotype 47,XYY
0.000 0.939 0.060
Q98.3 Other male with 46,XX karyotype
0.000 0.939 0.060
Q98.2 Klinefelter's syndrome, male with 46,XX karyotype
0.000 0.939 0.060
Q98.1 Klinefelter's syndrome, male with more than two X chromosomes
0.000 0.939 0.060
Q98.0 Klinefelter's syndrome karyotype 47,XXY
0.000 0.939 0.060

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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