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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

rs12356193
log Bayes Factor = 0.125377
Chromosome 10   position 61,413,353  (GRCh37) Explore rs12356193 on Ensembl!
Variant rs12356193 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
  
Q20-Q28 Congenital malformations of the circulatory system
0.361 0.639 0.000
Q21.1 Atrial septal defect
0.361 0.639 0.000
Q21 Congenital malformations of cardiac septa
0.360 0.640 0.000
Chapter XVII Congenital malformations, deformations and chromosomal abnormalities
0.354 0.646 0.000
Q60-Q64 Congenital malformations of the urinary system
0.343 0.657 0.000
Q63 Other congenital malformations of kidney
0.336 0.664 0.000
Q63.0 Accessory kidney
0.319 0.681 0.000
Q25 Congenital malformations of great arteries
0.317 0.683 0.000
Q80-Q89 Other congenital malformations
0.312 0.688 0.000
Q27 Other congenital malformations of peripheral vascular system
0.297 0.703 0.000
Q38-Q45 Other congenital malformations of the digestive system
0.296 0.704 0.000
Q63.1 Lobulated, fused and horseshoe kidney
0.296 0.704 0.000
Q10-Q18 Congenital malformations of eye, ear, face and neck
0.290 0.710 0.000
Q90-Q99 Chromosomal abnormalities, not elsewhere classified
0.283 0.717 0.000
Q87 Other specified congenital malformation syndromes affecting multiple systems
0.278 0.722 0.000
Q24 Other congenital malformations of heart
0.276 0.724 0.000
Q50-Q56 Congenital malformations of genital organs
0.270 0.730 0.000
Q23 Congenital malformations of aortic and mitral valves
0.265 0.735 0.000
Q35-Q37 Cleft lip and cleft palate
0.263 0.736 0.000
Q25.3 Stenosis of aorta
0.261 0.739 0.000
Q21.0 Ventricular septal defect
0.261 0.739 0.000
Q61 Cystic kidney disease
0.260 0.740 0.000
Q26 Congenital malformations of great veins
0.259 0.741 0.000
Q22 Congenital malformations of pulmonary and tricuspid valves
0.259 0.741 0.000
Q20 Congenital malformations of cardiac chambers and connexions
0.259 0.741 0.000
Q21.9 Congenital malformation of cardiac septum, unspecified
0.258 0.742 0.000
Q21.8 Other congenital malformations of cardiac septa
0.258 0.742 0.000
Q21.4 Aortopulmonary septal defect
0.258 0.742 0.000
Q21.3 Tetralogy of Fallot
0.258 0.742 0.000
Q21.2 Atrioventricular septal defect
0.258 0.742 0.000
Q63.2 Ectopic kidney
0.258 0.742 0.000
Q25.6 Stenosis of pulmonary artery
0.258 0.742 0.000
Q25.0 Patent ductus arteriosus
0.257 0.742 0.000
Q43 Other congenital malformations of intestine
0.256 0.744 0.000
Q64 Other congenital malformations of urinary system
0.255 0.745 0.000
Q30-Q34 Congenital malformations of the respiratory system
0.254 0.746 0.000
Q83 Congenital malformations of breast
0.252 0.748 0.000
Q28 Other congenital malformations of circulatory system
0.249 0.751 0.000
Q10 Congenital malformations of eyelid, lachrymal apparatus and orbit
0.248 0.752 0.000
Q62 Congenital obstructive defects of renal pelvis and congenital malformations of ureter
0.246 0.754 0.000
Q87.4 Marfan's syndrome
0.244 0.756 0.000
Q27.3 Peripheral arteriovenous malformation
0.241 0.759 0.000
Q82 Other congenital malformations of skin
0.241 0.759 0.000
Q63.9 Congenital malformation of kidney, unspecified
0.241 0.759 0.000
Q63.8 Other specified congenital malformations of kidney
0.241 0.759 0.000
Q63.3 Hyperplastic and giant kidney
0.241 0.759 0.000
Q65-Q79 Congenital malformations and deformations of the musculoskeletal system
0.239 0.761 0.000
Q43.0 Meckel's diverticulum
0.237 0.763 0.000
Q61.2 Polycystic kidney, adult type
0.229 0.771 0.000
Q27.9 Congenital malformation of peripheral vascular system, unspecified
0.228 0.772 0.000
Q24.9 Congenital malformation of the heart, unspecified
0.228 0.772 0.000
Q25.9 Congenital malformation of great arteries, unspecified
0.227 0.773 0.000
Q25.8 Other congenital malformations of great arteries
0.227 0.773 0.000
Q25.7 Other congenital malformations of pulmonary artery
0.227 0.773 0.000
Q25.5 Atresia of pulmonary artery
0.227 0.773 0.000
Q25.4 Other congenital malformations of aorta
0.227 0.773 0.000
Q25.2 Atresia of aorta
0.227 0.773 0.000
Q86 Congenital malformation syndromes due to known exogenous causes, not elsewhere classified
0.224 0.776 0.000
Q84 Other congenital malformations of integument
0.224 0.776 0.000
Q81 Epidermolysis bullosa
0.224 0.776 0.000
Q80 Congenital ichthyosis
0.224 0.776 0.000
Q85 Phakomatoses, not elsewhere classified
0.223 0.777 0.000
Q17 Other congenital malformations of ear
0.220 0.780 0.000
Q15 Other congenital malformations of eye
0.220 0.780 0.000
Q10.0 Congenital ptosis
0.219 0.781 0.000
Q87.8 Other specified congenital malformation syndromes, not elsewhere classified
0.219 0.781 0.000
Q39 Congenital malformations of oesophagus
0.219 0.781 0.000
Q60 Renal agenesis and other reduction defects of kidney
0.216 0.784 0.000
Q53 Undescended testicle
0.216 0.784 0.000
Q98 Other sex chromosome abnormalities, male phenotype, not elsewhere classified
0.215 0.785 0.000
Q90 Down's syndrome
0.215 0.785 0.000
Q44 Congenital malformations of gallbladder, bile ducts and liver
0.213 0.786 0.000
Q61.3 Polycystic kidney, unspecified
0.214 0.786 0.000
Q27.8 Other specified congenital malformations of peripheral vascular system
0.213 0.786 0.000
Q27.4 Congenital phlebectasia
0.213 0.787 0.000
Q27.2 Other congenital malformations of renal artery
0.213 0.787 0.000
Q27.1 Congenital renal artery stenosis
0.213 0.787 0.000
Q27.0 Congenital absence and hypoplasia of umbilical artery
0.213 0.787 0.000
Q45 Other congenital malformations of digestive system
0.212 0.787 0.000
Q42 Congenital absence, atresia and stenosis of large intestine
0.212 0.787 0.000
Q41 Congenital absence, atresia and stenosis of small intestine
0.212 0.787 0.000
Q40 Other congenital malformations of upper alimentary tract
0.212 0.787 0.000
Q96 Turner's syndrome
0.211 0.789 0.000
Q23.0 Congenital stenosis of aortic valve
0.210 0.790 0.000
Q16 Congenital malformations of ear causing impairment of hearing
0.208 0.792 0.000
Q14 Congenital malformations of posterior segment of eye
0.208 0.792 0.000
Q13 Congenital malformations of anterior segment of eye
0.208 0.792 0.000
Q11 Anophthalmos, microphthalmos and macrophthalmos
0.208 0.792 0.000
Q00-Q07 Congenital malformations of the nervous system
0.207 0.793 0.000
Q52 Other congenital malformations of female genitalia
0.206 0.794 0.000
Q12 Congenital lens malformations
0.205 0.795 0.000
Q87.0 Congenital malformation syndromes predominantly affecting facial appearance
0.204 0.795 0.000
Q99 Other chromosome abnormalities, not elsewhere classified
0.203 0.797 0.000
Q97 Other sex chromosome abnormalities, female phenotype, not elsewhere classified
0.203 0.797 0.000
Q95 Balanced rearrangements and structural markers, not elsewhere classified
0.203 0.797 0.000
Q93 Monosomies and deletions from the autosomes, not elsewhere classified
0.203 0.797 0.000
Q92 Other trisomies and partial trisomies of the autosomes, not elsewhere classified
0.203 0.797 0.000
Q91 Edwards' syndrome and Patau's syndrome
0.203 0.797 0.000
Q82.5 Congenital nonneoplastic naevus
0.203 0.797 0.000
Q50 Congenital malformations of ovaries, Fallopian tubes and broad ligaments
0.202 0.798 0.000
Q38 Other congenital malformations of tongue, mouth and pharynx
0.200 0.800 0.000
Q87.5 Other congenital malformation syndromes with other skeletal changes
0.200 0.800 0.000
Q87.3 Congenital malformation syndromes involving early overgrowth
0.200 0.800 0.000
Q87.2 Congenital malformation syndromes predominantly involving limbs
0.200 0.800 0.000
Q87.1 Congenital malformation syndromes predominantly associated with short stature
0.200 0.800 0.000
Q25.1 Coarctation of aorta
0.199 0.801 0.000
Q83.8 Other congenital malformations of breast
0.198 0.801 0.000
Q35 Cleft palate
0.198 0.801 0.000
Q24.6 Congenital heart block
0.198 0.802 0.000
Q24.5 Malformation of coronary vessels
0.198 0.802 0.000
Q24.4 Congenital subaortic stenosis
0.198 0.802 0.000
Q24.3 Pulmonary infundibular stenosis
0.198 0.802 0.000
Q24.2 Cor triatriatum
0.198 0.802 0.000
Q24.1 Levocardia
0.198 0.802 0.000
Q24.0 Dextrocardia
0.198 0.802 0.000
Q56 Indeterminate sex and pseudohermaphroditism
0.193 0.806 0.000
Q55 Other congenital malformations of male genital organs
0.193 0.806 0.000
Q83.1 Accessory breast
0.194 0.806 0.000
Q64.3 Other atresia and stenosis of urethra and bladder neck
0.192 0.808 0.000
Q43.3 Congenital malformations of intestinal fixation
0.191 0.808 0.000
Q74 Other congenital malformations of limb(s)
0.191 0.809 0.000
Q23.9 Congenital malformation of aortic and mitral valves, unspecified
0.190 0.810 0.000
Q23.8 Other congenital malformations of aortic and mitral valves
0.190 0.810 0.000
Q23.4 Hypoplastic left heart syndrome
0.190 0.810 0.000
Q23.3 Congenital mitral insufficiency
0.190 0.810 0.000
Q23.2 Congenital mitral stenosis
0.190 0.810 0.000
Q37 Cleft palate with cleft lip
0.189 0.811 0.000
Q36 Cleft lip
0.189 0.811 0.000
Q54 Hypospadias
0.189 0.811 0.000
Q61.8 Other cystic kidney diseases
0.187 0.813 0.000
Q61.4 Renal dysplasia
0.187 0.813 0.000
Q61.1 Polycystic kidney, infantile type
0.187 0.813 0.000
Q67 Congenital musculoskeletal deformities of head, face, spine and chest
0.187 0.813 0.000
Q20.9 Congenital malformation of cardiac chambers and connexions, unspecified
0.186 0.814 0.000
Q20.8 Other congenital malformations of cardiac chambers and connexions
0.186 0.814 0.000
Q20.6 Isomerism of atrial appendages
0.186 0.814 0.000
Q20.5 Discordant atrioventricular connexion
0.186 0.814 0.000
Q20.4 Double inlet ventricle
0.186 0.814 0.000
Q20.3 Discordant ventriculoarterial connexion
0.186 0.814 0.000
Q20.2 Double outlet left ventricle
0.186 0.814 0.000
Q20.1 Double outlet right ventricle
0.186 0.814 0.000
Q20.0 Common arterial trunk
0.186 0.814 0.000
Q22.9 Congenital malformation of tricuspid valve, unspecified
0.186 0.814 0.000
Q22.8 Other congenital malformations of tricuspid valve
0.186 0.814 0.000
Q22.6 Hypoplastic right heart syndrome
0.186 0.814 0.000
Q22.5 Ebstein's anomaly
0.186 0.814 0.000
Q22.4 Congenital tricuspid stenosis
0.186 0.814 0.000
Q22.3 Other congenital malformations of pulmonary valve
0.186 0.814 0.000
Q22.2 Congenital pulmonary valve insufficiency
0.186 0.814 0.000
Q22.1 Congenital pulmonary valve stenosis
0.186 0.814 0.000
Q22.0 Pulmonary valve atresia
0.186 0.814 0.000
Q26.9 Congenital malformation of great vein, unspecified
0.186 0.814 0.000
Q26.8 Other congenital malformations of great veins
0.186 0.814 0.000
Q26.6 Portal vein-hepatic artery fistula
0.186 0.814 0.000
Q26.5 Anomalous portal venous connexion
0.186 0.814 0.000
Q26.4 Anomalous pulmonary venous connexion, unspecified
0.186 0.814 0.000
Q26.3 Partial anomalous pulmonary venous connexion
0.186 0.814 0.000
Q26.2 Total anomalous pulmonary venous connexion
0.186 0.814 0.000
Q26.1 Persistent left superior vena cava
0.186 0.814 0.000
Q26.0 Congenital stenosis of vena cava
0.186 0.814 0.000
Q43.7 Persistent cloaca
0.184 0.816 0.000
Q43.6 Congenital fistula of rectum and anus
0.184 0.816 0.000
Q43.5 Ectopic anus
0.184 0.816 0.000
Q43.4 Duplication of intestine
0.184 0.816 0.000
Q43.2 Other congenital functional disorders of colon
0.184 0.816 0.000
Q43.1 Hirschsprung's disease
0.184 0.816 0.000
Q64.9 Congenital malformation of urinary system, unspecified
0.183 0.817 0.000
Q64.8 Other specified congenital malformations of urinary system
0.183 0.817 0.000
Q64.7 Other congenital malformations of bladder and urethra
0.183 0.817 0.000
Q64.6 Congenital diverticulum of bladder
0.183 0.817 0.000
Q64.5 Congenital absence of bladder and urethra
0.183 0.817 0.000
Q64.4 Malformation of urachus
0.183 0.817 0.000
Q64.2 Congenital posterior urethral valves
0.183 0.817 0.000
Q64.1 Exstrophy of urinary bladder
0.183 0.817 0.000
Q64.0 Epispadias
0.183 0.817 0.000
Q34 Other congenital malformations of respiratory system
0.182 0.818 0.000
Q33 Congenital malformations of lung
0.182 0.818 0.000
Q32 Congenital malformations of trachea and bronchus
0.182 0.818 0.000
Q31 Congenital malformations of larynx
0.182 0.818 0.000
Q30 Congenital malformations of nose
0.182 0.818 0.000
Q43.8 Other specified congenital malformations of intestine
0.181 0.819 0.000
Q83.9 Congenital malformation of breast, unspecified
0.181 0.819 0.000
Q83.3 Accessory nipple
0.181 0.819 0.000
Q83.2 Absent nipple
0.181 0.819 0.000
Q83.0 Congenital absence of breast with absent nipple
0.181 0.819 0.000
Q82.2 Mastocytosis
0.179 0.821 0.000
Q28.9 Congenital malformation of circulatory system, unspecified
0.179 0.821 0.000
Q28.8 Other specified congenital malformations of circulatory system
0.179 0.821 0.000
Q28.3 Other malformations of cerebral vessels
0.179 0.821 0.000
Q28.1 Other malformations of precerebral vessels
0.179 0.821 0.000
Q28.0 Arteriovenous malformation of precerebral vessels
0.179 0.821 0.000
Q10.7 Congenital malformation of orbit
0.178 0.822 0.000
Q10.6 Other congenital malformations of lachrymal apparatus
0.178 0.822 0.000
Q10.5 Congenital stenosis and stricture of lachrymal duct
0.178 0.822 0.000
Q10.4 Absence and agenesis of lachrymal apparatus
0.178 0.822 0.000
Q10.3 Other congenital malformations of eyelid
0.178 0.822 0.000
Q10.2 Congenital entropion
0.178 0.822 0.000
Q10.1 Congenital ectropion
0.178 0.822 0.000
Q24.8 Other specified congenital malformations of heart
0.177 0.823 0.000
Q62.8 Other congenital malformations of ureter
0.177 0.823 0.000
Q62.7 Congenital vesico-uretero-renal reflux
0.177 0.823 0.000
Q62.6 Malposition of ureter
0.177 0.823 0.000
Q62.5 Duplication of ureter
0.177 0.823 0.000
Q62.4 Agenesis of ureter
0.177 0.823 0.000
Q62.3 Other obstructive defects of renal pelvis and ureter
0.177 0.823 0.000
Q62.2 Congenital megaloureter
0.177 0.823 0.000
Q62.1 Atresia and stenosis of ureter
0.177 0.823 0.000
Q62.0 Congenital hydronephrosis
0.177 0.823 0.000
Q89 Other congenital malformations, not elsewhere classified
0.175 0.825 0.000
Q82.9 Congenital malformation of skin, unspecified
0.173 0.827 0.000
Q82.4 Ectodermal dysplasia (anhidrotic)
0.173 0.827 0.000
Q82.3 Incontinentia pigmenti
0.173 0.827 0.000
Q82.1 Xeroderma pigmentosum
0.173 0.827 0.000
Q82.0 Hereditary lymphoedema
0.173 0.827 0.000
Q61.9 Cystic kidney disease, unspecified
0.172 0.828 0.000
Q78 Other osteochondrodysplasias
0.172 0.828 0.000
Q77 Osteochondrodysplasia with defects of growth of tubular bones and spine
0.172 0.828 0.000
Q75 Other congenital malformations of skull and face bones
0.172 0.828 0.000
Q73 Reduction defects of unspecified limb
0.172 0.828 0.000
Q72 Reduction defects of lower limb
0.172 0.828 0.000
Q71 Reduction defects of upper limb
0.172 0.828 0.000
Q70 Syndactyly
0.172 0.828 0.000
Q69 Polydactyly
0.172 0.828 0.000
Q68 Other congenital musculoskeletal deformities
0.172 0.828 0.000
Q17.5 Prominent ear
0.170 0.829 0.000
Q15.0 Congenital glaucoma
0.170 0.830 0.000
Q23.1 Congenital insufficiency of aortic valve
0.170 0.830 0.000
Q53.2 Undescended testicle, bilateral
0.169 0.831 0.000
Q28.2 Arteriovenous malformation of cerebral vessels
0.169 0.831 0.000
Q18 Other congenital malformations of face and neck
0.168 0.831 0.000
Q98.4 Klinefelter's syndrome, unspecified
0.167 0.833 0.000
Q90.9 Down's syndrome, unspecified
0.166 0.834 0.000
Q65 Congenital deformities of hip
0.165 0.835 0.000
Q53.1 Undescended testicle, unilateral
0.165 0.835 0.000
Q85.0 Neurofibromatosis (nonmalignant)
0.164 0.835 0.000
Q39.4 Oesophageal web
0.163 0.837 0.000
Q51 Congenital malformations of uterus and cervix
0.162 0.838 0.000
Q80.9 Congenital ichthyosis, unspecified
0.161 0.839 0.000
Q80.8 Other congenital ichthyosis
0.161 0.839 0.000
Q80.4 Harlequin foetus
0.161 0.839 0.000
Q80.3 Congenital bullous ichthyosiform erythroderma
0.161 0.839 0.000
Q80.2 Lamellar ichthyosis
0.161 0.839 0.000
Q80.1 X-linked ichthyosis
0.161 0.839 0.000
Q80.0 Ichthyosis vulgaris
0.161 0.839 0.000
Q81.9 Epidermolysis bullosa, unspecified
0.161 0.839 0.000
Q81.8 Other epidermolysis bullosa
0.161 0.839 0.000
Q81.2 Epidermolysis bullosa dystrophica
0.161 0.839 0.000
Q81.1 Epidermolysis bullosa letalis
0.161 0.839 0.000
Q81.0 Epidermolysis bullosa simplex
0.161 0.839 0.000
Q84.9 Congenital malformation of integument, unspecified
0.161 0.839 0.000
Q84.8 Other specified congenital malformations of integument
0.161 0.839 0.000
Q84.6 Other congenital malformations of nails
0.161 0.839 0.000
Q84.5 Enlarged and hypertrophic nails
0.161 0.839 0.000
Q84.4 Congenital leukonychia
0.161 0.839 0.000
Q84.3 Anonychia
0.161 0.839 0.000
Q84.2 Other congenital malformations of hair
0.161 0.839 0.000
Q84.1 Congenital morphological disturbances of hair, not elsewhere classified
0.161 0.839 0.000
Q84.0 Congenital alopecia
0.161 0.839 0.000
Q86.8 Other congenital malformation syndromes due to known exogenous causes
0.161 0.839 0.000
Q86.2 Dysmorphism due to warfarin
0.161 0.839 0.000
Q86.1 Foetal hydantoin syndrome
0.161 0.839 0.000
Q86.0 Foetal alcohol syndrome (dysmorphic)
0.161 0.839 0.000
Q52.5 Fusion of labia
0.160 0.839 0.000
Q85.1 Tuberous sclerosis
0.160 0.840 0.000
Q61.5 Medullary cystic kidney
0.160 0.840 0.000
Q96.9 Turner's syndrome, unspecified
0.160 0.840 0.000
Q66 Congenital deformities of feet
0.159 0.840 0.000
Q85.9 Phakomatosis, unspecified
0.159 0.841 0.000
Q17.9 Congenital malformation of ear, unspecified
0.158 0.842 0.000
Q17.8 Other specified congenital malformations of ear
0.158 0.842 0.000
Q17.4 Misplaced ear
0.158 0.842 0.000
Q17.3 Other misshapen ear
0.158 0.842 0.000
Q17.2 Microtia
0.158 0.842 0.000
Q17.1 Macrotia
0.158 0.842 0.000
Q17.0 Accessory auricle
0.158 0.842 0.000
Q15.9 Congenital malformation of eye, unspecified
0.158 0.842 0.000
Q15.8 Other specified congenital malformations of eye
0.158 0.842 0.000
Q39.9 Congenital malformation of oesophagus, unspecified
0.157 0.843 0.000
Q39.8 Other congenital malformations of oesophagus
0.157 0.843 0.000
Q39.6 Diverticulum of oesophagus
0.157 0.843 0.000
Q39.5 Congenital dilatation of oesophagus
0.157 0.843 0.000
Q39.3 Congenital stenosis and stricture of oesophagus
0.157 0.843 0.000
Q39.2 Congenital tracheooesophageal fistula without atresia
0.157 0.843 0.000
Q39.1 Atresia of oesophagus with tracheooesophageal fistula
0.157 0.843 0.000
Q39.0 Atresia of oesophagus without fistula
0.157 0.843 0.000
Q85.8 Other phakomatoses, not elsewhere classified
0.156 0.843 0.000
Q60.6 Potter's syndrome
0.155 0.845 0.000
Q60.5 Renal hypoplasia, unspecified
0.155 0.845 0.000
Q60.4 Renal hypoplasia, bilateral
0.155 0.845 0.000
Q60.3 Renal hypoplasia, unilateral
0.155 0.845 0.000
Q60.1 Renal agenesis, bilateral
0.155 0.845 0.000
Q53.9 Undescended testicle, unspecified
0.155 0.845 0.000
Q53.0 Ectopic testis
0.155 0.845 0.000
Q98.9 Sex chromosome abnormality, male phenotype, unspecified
0.154 0.845 0.000
Q98.8 Other specified sex chromosome abnormalities, male phenotype
0.154 0.845 0.000
Q98.7 Male with sex chromosome mosaicism
0.154 0.845 0.000
Q98.6 Male with structurally abnormal sex chromosome
0.154 0.845 0.000
Q98.5 Karyotype 47,XYY
0.154 0.845 0.000
Q98.3 Other male with 46,XX karyotype
0.154 0.845 0.000
Q98.2 Klinefelter's syndrome, male with 46,XX karyotype
0.154 0.845 0.000
Q98.1 Klinefelter's syndrome, male with more than two X chromosomes
0.154 0.845 0.000
Q98.0 Klinefelter's syndrome karyotype 47,XXY
0.154 0.845 0.000
Q44.6 Cystic disease of liver
0.154 0.846 0.000
Q90.2 Trisomy 21, translocation
0.154 0.846 0.000
Q90.1 Trisomy 21, mosaicism (mitotic nondisjunction)
0.154 0.846 0.000
Q90.0 Trisomy 21, meiotic nondisjunction
0.154 0.846 0.000
Q44.7 Other congenital malformations of liver
0.153 0.847 0.000
Q44.5 Other congenital malformations of bile ducts
0.153 0.847 0.000
Q44.4 Choledochal cyst
0.153 0.847 0.000
Q44.3 Congenital stenosis and stricture of bile ducts
0.153 0.847 0.000
Q44.2 Atresia of bile ducts
0.153 0.847 0.000
Q44.1 Other congenital malformations of gallbladder
0.153 0.847 0.000
Q44.0 Agenesis, aplasia and hypoplasia of gallbladder
0.153 0.847 0.000
Q50.4 Embryonic cyst of Fallopian tube
0.153 0.847 0.000
Q40.9 Congenital malformation of upper alimentary tract, unspecified
0.152 0.847 0.000
Q40.8 Other specified congenital malformations of upper alimentary tract
0.152 0.847 0.000
Q40.3 Congenital malformation of stomach, unspecified
0.152 0.847 0.000
Q40.2 Other specified congenital malformations of stomach
0.152 0.847 0.000
Q40.1 Congenital hiatus hernia
0.152 0.847 0.000
Q40.0 Congenital hypertrophic pyloric stenosis
0.152 0.847 0.000
Q41.9 Congenital absence, atresia and stenosis of small intestine, part unspecified
0.152 0.847 0.000
Q41.8 Congenital absence, atresia and stenosis of other specified parts of small intestine
0.152 0.847 0.000
Q41.2 Congenital absence, atresia and stenosis of ileum
0.152 0.847 0.000
Q41.1 Congenital absence, atresia and stenosis of jejunum
0.152 0.847 0.000
Q41.0 Congenital absence, atresia and stenosis of duodenum
0.152 0.847 0.000
Q42.9 Congenital absence, atresia and stenosis of large intestine, part unspecified
0.152 0.847 0.000
Q42.8 Congenital absence, atresia and stenosis of other parts of large intestine
0.152 0.847 0.000
Q42.3 Congenital absence, atresia and stenosis of anus without fistula
0.152 0.847 0.000
Q42.2 Congenital absence, atresia and stenosis of anus with fistula
0.152 0.847 0.000
Q42.1 Congenital absence, atresia and stenosis of rectum without fistula
0.152 0.847 0.000
Q42.0 Congenital absence, atresia and stenosis of rectum with fistula
0.152 0.847 0.000
Q45.9 Congenital malformation of digestive system, unspecified
0.152 0.847 0.000
Q45.8 Other specified congenital malformations of digestive system
0.152 0.847 0.000
Q45.3 Other congenital malformations of pancreas and pancreatic duct
0.152 0.847 0.000
Q45.2 Congenital pancreatic cyst
0.152 0.847 0.000
Q45.1 Annular pancreas
0.152 0.847 0.000
Q45.0 Agenesis, aplasia and hypoplasia of pancreas
0.152 0.847 0.000
Q35.9 Cleft palate, unspecified
0.152 0.848 0.000
Q79 Congenital malformations of musculoskeletal system, not elsewhere classified
0.152 0.848 0.000
Q96.8 Other variants of Turner's syndrome
0.151 0.848 0.000
Q96.4 Mosaicism, 45,X/other cell line(s) with abnormal sex chromosome
0.151 0.848 0.000
Q96.3 Mosaicism, 45,X/46,XX or XY
0.151 0.848 0.000
Q96.2 Karyotype 46,X with abnormal sex chromosome, except iso (Xq)
0.151 0.848 0.000
Q96.1 Karyotype 46,X iso (Xq)
0.151 0.848 0.000
Q96.0 Karyotype 45,X
0.151 0.848 0.000
Q76 Congenital malformations of spine and bony thorax
0.151 0.849 0.000
Q67.4 Other congenital deformities of skull, face and jaw
0.150 0.849 0.000
Q11.3 Macrophthalmos
0.149 0.851 0.000
Q11.2 Microphthalmos
0.149 0.851 0.000
Q11.1 Other anophthalmos
0.149 0.851 0.000
Q11.0 Cystic eyeball
0.149 0.851 0.000
Q13.9 Congenital malformation of anterior segment of eye, unspecified
0.149 0.851 0.000
Q13.8 Other congenital malformations of anterior segment of eye
0.149 0.851 0.000
Q13.5 Blue sclera
0.149 0.851 0.000
Q13.4 Other congenital corneal malformations
0.149 0.851 0.000
Q13.3 Congenital corneal opacity
0.149 0.851 0.000
Q13.2 Other congenital malformations of iris
0.149 0.851 0.000
Q13.1 Absence of iris
0.149 0.851 0.000
Q13.0 Coloboma of iris
0.149 0.851 0.000
Q14.9 Congenital malformation of posterior segment of eye, unspecified
0.149 0.851 0.000
Q14.8 Other congenital malformations of posterior segment of eye
0.149 0.851 0.000
Q14.3 Congenital malformation of choroid
0.149 0.851 0.000
Q14.2 Congenital malformation of optic disk
0.149 0.851 0.000
Q14.1 Congenital malformation of retina
0.149 0.851 0.000
Q14.0 Congenital malformation of vitreous humour
0.149 0.851 0.000
Q16.9 Congenital malformation of ear causing impairment of hearing, unspecified
0.149 0.851 0.000
Q16.5 Congenital malformation of inner ear
0.149 0.851 0.000
Q16.4 Other congenital malformations of middle ear
0.149 0.851 0.000
Q16.3 Congenital malformation of ear ossicles
0.149 0.851 0.000
Q16.2 Absence of eustachian tube
0.149 0.851 0.000
Q16.1 Congenital absence, atresia and stricture of auditory canal (external)
0.149 0.851 0.000
Q16.0 Congenital absence of (ear) auricle
0.149 0.851 0.000
Q74.1 Congenital malformation of knee
0.149 0.851 0.000
Q06 Other congenital malformations of spinal cord
0.148 0.851 0.000
Q03 Congenital hydrocephalus
0.148 0.851 0.000
Q01 Encephalocele
0.148 0.851 0.000
Q00 Anencephaly and similar malformations
0.148 0.851 0.000
Q02 Microcephaly
0.148 0.851 0.000
Q52.9 Congenital malformation of female genitalia, unspecified
0.148 0.852 0.000
Q52.8 Other specified congenital malformations of female genitalia
0.148 0.852 0.000
Q52.7 Other congenital malformations of vulva
0.148 0.852 0.000
Q52.6 Congenital malformation of clitoris
0.148 0.852 0.000
Q52.4 Other congenital malformations of vagina
0.148 0.852 0.000
Q52.3 Imperforate hymen
0.148 0.852 0.000
Q52.2 Congenital rectovaginal fistula
0.148 0.852 0.000
Q52.1 Doubling of vagina
0.148 0.852 0.000
Q52.0 Congenital absence of vagina
0.148 0.852 0.000
Q04 Other congenital malformations of brain
0.148 0.852 0.000
Q12.9 Congenital lens malformation, unspecified
0.147 0.853 0.000
Q12.8 Other congenital lens malformations
0.147 0.853 0.000
Q12.4 Spherophakia
0.147 0.853 0.000
Q12.3 Congenital aphakia
0.147 0.853 0.000
Q12.2 Coloboma of lens
0.147 0.853 0.000
Q12.1 Congenital displaced lens
0.147 0.853 0.000
Q74.2 Other congenital malformations of lower limb(s), including pelvic girdle
0.147 0.853 0.000
Q43.9 Congenital malformation of intestine, unspecified
0.146 0.854 0.000
Q91.7 Patau's syndrome, unspecified
0.145 0.854 0.000
Q91.6 Trisomy 13, translocation
0.145 0.854 0.000
Q91.5 Trisomy 13, mosaicism (mitotic nondisjunction)
0.145 0.854 0.000
Q91.4 Trisomy 13, meiotic nondisjunction
0.145 0.854 0.000
Q91.3 Edwards' syndrome, unspecified
0.145 0.854 0.000
Q91.2 Trisomy 18, translocation
0.145 0.854 0.000
Q91.1 Trisomy 18, mosaicism (mitotic nondisjunction)
0.145 0.854 0.000
Q91.0 Trisomy 18, meiotic nondisjunction
0.145 0.854 0.000
Q92.9 Trisomy and partial trisomy of autosomes, unspecified
0.145 0.854 0.000
Q92.8 Other specified trisomies and partial trisomies of autosomes
0.145 0.854 0.000
Q92.7 Triploidy and polyploidy
0.145 0.854 0.000
Q92.6 Extra marker chromosomes
0.145 0.854 0.000
Q92.5 Duplications with other complex rearrangements
0.145 0.854 0.000
Q92.4 Duplications seen only at prometaphase
0.145 0.854 0.000
Q92.3 Minor partial trisomy
0.145 0.854 0.000
Q92.2 Major partial trisomy
0.145 0.854 0.000
Q92.1 Whole chromosome trisomy, mosaicism (mitotic nondisjunction)
0.145 0.854 0.000
Q92.0 Whole chromosome trisomy, meiotic nondisjunction
0.145 0.854 0.000
Q93.9 Deletion from autosomes, unspecified
0.145 0.854 0.000
Q93.8 Other deletions from the autosomes
0.145 0.854 0.000
Q93.7 Deletions with other complex rearrangements
0.145 0.854 0.000
Q93.6 Deletions seen only at prometaphase
0.145 0.854 0.000
Q93.5 Other deletions of part of a chromosome
0.145 0.854 0.000
Q93.4 Deletion of short arm of chromosome 5
0.145 0.854 0.000
Q93.3 Deletion of short arm of chromosome 4
0.145 0.854 0.000
Q93.2 Chromosome replaced with ring or dicentric
0.145 0.854 0.000
Q93.1 Whole chromosome monosomy, mosaicism (mitotic nondisjunction)
0.145 0.854 0.000
Q93.0 Whole chromosome monosomy, meiotic nondisjunction
0.145 0.854 0.000
Q95.9 Balanced rearrangement and structural marker, unspecified
0.145 0.854 0.000
Q95.8 Other balanced rearrangements and structural markers
0.145 0.854 0.000
Q95.5 Individuals with autosomal fragile site
0.145 0.854 0.000
Q95.4 Individuals with marker heterochromatin
0.145 0.854 0.000
Q95.3 Balanced sex/autosomal rearrangement in abnormal individual
0.145 0.854 0.000
Q95.2 Balanced autosomal rearrangement in abnormal individual
0.145 0.854 0.000
Q95.1 Chromosome inversion in normal individual
0.145 0.854 0.000
Q95.0 Balanced translocation and insertion in normal individual
0.145 0.854 0.000
Q97.9 Sex chromosome abnormality, female phenotype, unspecified
0.145 0.854 0.000
Q97.8 Other specified sex chromosome abnormalities, female phenotype
0.145 0.854 0.000
Q97.3 Female with 46,XY karyotype
0.145 0.854 0.000
Q97.2 Mosaicism, lines with various numbers of X chromosomes
0.145 0.854 0.000
Q97.1 Female with more than three X chromosomes
0.145 0.854 0.000
Q97.0 Karyotype 47,XXX
0.145 0.854 0.000
Q99.9 Chromosomal abnormality, unspecified
0.145 0.854 0.000
Q99.8 Other specified chromosome abnormalities
0.145 0.854 0.000
Q99.2 Fragile X chromosome
0.145 0.854 0.000
Q99.1 46,XX true hermaphrodite
0.145 0.854 0.000
Q99.0 Chimera 46,XX/46,XY
0.145 0.854 0.000
Q50.6 Other congenital malformatons of Fallopian tube and broad ligament
0.145 0.855 0.000
Q50.5 Embryonic cyst of broad ligament
0.145 0.855 0.000
Q50.3 Other congenital malformations of ovary
0.145 0.855 0.000
Q50.2 Congenital torsion of ovary
0.145 0.855 0.000
Q50.1 Developmental ovarian cyst
0.145 0.855 0.000
Q50.0 Congenital absence of ovary
0.145 0.855 0.000
Q38.8 Other congenital malformations of pharynx
0.144 0.856 0.000
Q38.6 Other congenital malformations of mouth
0.144 0.856 0.000
Q38.5 Congenital malformations of palate, not elsewhere classified
0.144 0.856 0.000
Q38.4 Congenital malformations of salivary glands and ducts
0.144 0.856 0.000
Q38.3 Other congenital malformations of tongue
0.144 0.856 0.000
Q38.2 Macroglossia
0.144 0.856 0.000
Q38.1 Ankyloglossia
0.144 0.856 0.000
Q38.0 Congenital malformations of lips, not elsewhere classified
0.144 0.856 0.000
Q12.0 Congenital cataract
0.144 0.856 0.000
Q54.9 Hypospadias, unspecified
0.143 0.857 0.000
Q82.8 Other specified congenital malformations of skin
0.143 0.857 0.000
Q60.0 Renal agenesis, unilateral
0.143 0.857 0.000
Q35.8 (Cleft palate, unspecified, bilateral)
0.142 0.857 0.000
Q35.7 Cleft uvula
0.142 0.857 0.000
Q35.6 Cleft palate, medial
0.142 0.857 0.000
Q35.5 Cleft hard palate with cleft soft palate
0.142 0.857 0.000
Q35.4 (Cleft hard palate with cleft soft palate, bilateral)
0.142 0.857 0.000
Q35.3 Cleft soft palate
0.142 0.857 0.000
Q35.2 (Cleft soft palate, bilateral)
0.142 0.857 0.000
Q35.1 Cleft hard palate
0.142 0.857 0.000
Q35.0 (Cleft hard palate, bilateral)
0.142 0.857 0.000
Q60.2 Renal agenesis, unspecified
0.139 0.860 0.000
Q55.9 Congenital malformation of male genital organ, unspecified
0.139 0.861 0.000
Q55.8 Other specified congenital malformations of male genital organs
0.139 0.861 0.000
Q55.6 Other congenital malformations of penis
0.139 0.861 0.000
Q55.5 Congenital absence and aplasia of penis
0.139 0.861 0.000
Q55.4 Other congenital malformations of vas deferens, epididymis, seminal vesicles and prostate
0.139 0.861 0.000
Q55.3 Atresia of vas deferens
0.139 0.861 0.000
Q55.2 Other congenital malformations of testis and scrotum
0.139 0.861 0.000
Q55.1 Hypoplasia of testis and scrotum
0.139 0.861 0.000
Q55.0 Absence and aplasia of testis
0.139 0.861 0.000
Q56.4 Indeterminate sex, unspecified
0.139 0.861 0.000
Q56.3 Pseudohermaphroditism, unspecified
0.139 0.861 0.000
Q56.2 Female pseudohermaphroditism, not elsewhere classified
0.139 0.861 0.000
Q56.1 Male pseudohermaphroditism, not elsewhere classified
0.139 0.861 0.000
Q56.0 Hermaphroditism, not elsewhere classified
0.139 0.861 0.000
Q74.9 Unspecified congenital malformation of limb(s)
0.137 0.863 0.000
Q74.8 Other specified congenital malformations of limb(s)
0.137 0.863 0.000
Q74.3 Arthrogryposis multiplex congenita
0.137 0.863 0.000
Q74.0 Other congenital malformations of upper limb(s), including shoulder girdle
0.137 0.863 0.000
Q07 Other congenital malformations of nervous system
0.137 0.863 0.000
Q36.9 Cleft lip, unilateral
0.136 0.864 0.000
Q36.1 Cleft lip, medial
0.136 0.864 0.000
Q36.0 Cleft lip, bilateral
0.136 0.864 0.000
Q37.9 Unspecified cleft palate with unilateral cleft lip
0.136 0.864 0.000
Q37.8 Unspecified cleft palate with bilateral cleft lip
0.136 0.864 0.000
Q37.5 Cleft hard and soft palate with unilateral cleft lip
0.136 0.864 0.000
Q37.4 Cleft hard and soft palate with bilateral cleft lip
0.136 0.864 0.000
Q37.3 Cleft soft palate with unilateral cleft lip
0.136 0.864 0.000
Q37.2 Cleft soft palate with bilateral cleft lip
0.136 0.864 0.000
Q37.1 Cleft hard palate with unilateral cleft lip
0.136 0.864 0.000

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

The full results table can be downloaded from this page.

 

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

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

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

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