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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

rs4840097
log Bayes Factor = <0.0001
Chromosome 6   position 100,328,198  (GRCh37) Explore rs4840097 on Ensembl!
Variant rs4840097 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 0.926 0.074
Q61.2 Polycystic kidney, adult type
0.000 0.927 0.073
Q61.3 Polycystic kidney, unspecified
0.000 0.928 0.072
Q61.5 Medullary cystic kidney
0.000 0.932 0.068
Q61.9 Cystic kidney disease, unspecified
0.000 0.945 0.055
Q60-Q64 Congenital malformations of the urinary system
0.000 0.946 0.054
Q61.8 Other cystic kidney diseases
0.000 0.947 0.053
Q61.1 Polycystic kidney, infantile type
0.000 0.947 0.053
Q61.4 Renal dysplasia
0.000 0.947 0.053
Q63 Other congenital malformations of kidney
0.000 0.947 0.053
Q63.0 Accessory kidney
0.000 0.947 0.053
Q61.0 Congenital single renal cyst
0.000 0.950 0.050
Q64 Other congenital malformations of urinary system
0.000 0.959 0.040
Q63.2 Ectopic kidney
0.000 0.961 0.038
Q63.3 Hyperplastic and giant kidney
0.000 0.962 0.038
Q63.8 Other specified congenital malformations of kidney
0.000 0.962 0.038
Q63.9 Congenital malformation of kidney, unspecified
0.000 0.963 0.037
Q60 Renal agenesis and other reduction defects of kidney
0.000 0.964 0.036
Q63.1 Lobulated, fused and horseshoe kidney
0.000 0.964 0.036
Q64.3 Other atresia and stenosis of urethra and bladder neck
0.000 0.968 0.032
Q64.4 Malformation of urachus
0.000 0.970 0.030
Q64.9 Congenital malformation of urinary system, unspecified
0.000 0.971 0.029
Q64.8 Other specified congenital malformations of urinary system
0.000 0.971 0.029
Q64.6 Congenital diverticulum of bladder
0.000 0.971 0.029
Q64.5 Congenital absence of bladder and urethra
0.000 0.971 0.029
Q64.2 Congenital posterior urethral valves
0.000 0.971 0.029
Q64.1 Exstrophy of urinary bladder
0.000 0.971 0.029
Q64.0 Epispadias
0.000 0.971 0.029
Q60.0 Renal agenesis, unilateral
0.000 0.972 0.028
Q62 Congenital obstructive defects of renal pelvis and congenital malformations of ureter
0.000 0.973 0.027
Q64.7 Other congenital malformations of bladder and urethra
0.000 0.973 0.026
Q60.6 Potter's syndrome
0.000 0.974 0.026
Q60.5 Renal hypoplasia, unspecified
0.000 0.974 0.026
Q60.4 Renal hypoplasia, bilateral
0.000 0.974 0.026
Q60.1 Renal agenesis, bilateral
0.000 0.974 0.026
Q60.3 Renal hypoplasia, unilateral
0.000 0.975 0.025
I47.2 Ventricular tachycardia
0.000 0.977 0.023
Q60.2 Renal agenesis, unspecified
0.000 0.978 0.022
Q62.7 Congenital vesico-uretero-renal reflux
0.000 0.980 0.019
Q62.6 Malposition of ureter
0.000 0.980 0.019
Q62.4 Agenesis of ureter
0.000 0.980 0.019
Q62.0 Congenital hydronephrosis
0.000 0.980 0.019
Q62.8 Other congenital malformations of ureter
0.000 0.981 0.018
Q62.3 Other obstructive defects of renal pelvis and ureter
0.000 0.981 0.018
Q62.1 Atresia and stenosis of ureter
0.000 0.981 0.018
S61.1 Open wound of finger(s) with damage to nail
0.018 0.982 0.000
Q62.2 Congenital megaloureter
0.000 0.982 0.017
Q62.5 Duplication of ureter
0.000 0.983 0.016
Chapter XVII Congenital malformations, deformations and chromosomal abnormalities
0.000 0.986 0.014
Q20-Q28 Congenital malformations of the circulatory system
0.000 0.988 0.012
H34.8 Other retinal vascular occlusions
0.000 0.988 0.012
Q23 Congenital malformations of aortic and mitral valves
0.000 0.988 0.012
Q23.0 Congenital stenosis of aortic valve
0.000 0.988 0.012
Q65-Q79 Congenital malformations and deformations of the musculoskeletal system
0.000 0.989 0.011
Q25 Congenital malformations of great arteries
0.000 0.989 0.011
Q90-Q99 Chromosomal abnormalities, not elsewhere classified
0.000 0.989 0.010
Q30-Q34 Congenital malformations of the respiratory system
0.000 0.990 0.010
I47.9 Paroxysmal tachycardia, unspecified
0.000 0.990 0.010
Q76 Congenital malformations of spine and bony thorax
0.000 0.990 0.010
Q24 Other congenital malformations of heart
0.000 0.990 0.010
I47 Paroxysmal tachycardia
0.000 0.990 0.010
Q35-Q37 Cleft lip and cleft palate
0.000 0.990 0.010
Q10-Q18 Congenital malformations of eye, ear, face and neck
0.000 0.990 0.010
Y95 Nosocomial condition
0.010 0.990 0.000
Q76.4 Other congenital malformations of spine, not associated with scoliosis
0.000 0.991 0.009
Q00-Q07 Congenital malformations of the nervous system
0.000 0.991 0.009
Q77 Osteochondrodysplasia with defects of growth of tubular bones and spine
0.000 0.991 0.009
Q23.3 Congenital mitral insufficiency
0.000 0.991 0.009
Q22 Congenital malformations of pulmonary and tricuspid valves
0.000 0.991 0.009
Q96 Turner's syndrome
0.000 0.991 0.009
Q26 Congenital malformations of great veins
0.000 0.991 0.009
Q20 Congenital malformations of cardiac chambers and connexions
0.000 0.991 0.009
Q25.1 Coarctation of aorta
0.000 0.991 0.009
Q25.0 Patent ductus arteriosus
0.000 0.991 0.009
Q24.5 Malformation of coronary vessels
0.000 0.991 0.009
Q68 Other congenital musculoskeletal deformities
0.000 0.991 0.009
Q23.9 Congenital malformation of aortic and mitral valves, unspecified
0.000 0.991 0.009
Q23.8 Other congenital malformations of aortic and mitral valves
0.000 0.991 0.009
Q23.4 Hypoplastic left heart syndrome
0.000 0.991 0.009
Q23.2 Congenital mitral stenosis
0.000 0.991 0.009
Q65 Congenital deformities of hip
0.000 0.991 0.009
Q23.1 Congenital insufficiency of aortic valve
0.000 0.991 0.009
Q25.6 Stenosis of pulmonary artery
0.000 0.991 0.008
H34 Retinal vascular occlusions
0.000 0.991 0.009
N18.0 End-stage renal disease
0.000 0.991 0.009
Q38-Q45 Other congenital malformations of the digestive system
0.000 0.991 0.009
T39.1 4-Aminophenol derivatives
0.008 0.992 0.000
Q70 Syndactyly
0.000 0.992 0.008
Q67 Congenital musculoskeletal deformities of head, face, spine and chest
0.000 0.992 0.008
Q73 Reduction defects of unspecified limb
0.000 0.992 0.008
Q72 Reduction defects of lower limb
0.000 0.992 0.008
Q71 Reduction defects of upper limb
0.000 0.992 0.008
Q69 Polydactyly
0.000 0.992 0.008
Q75 Other congenital malformations of skull and face bones
0.000 0.992 0.008
Q25.7 Other congenital malformations of pulmonary artery
0.000 0.992 0.008
Q31 Congenital malformations of larynx
0.000 0.992 0.008
Q25.4 Other congenital malformations of aorta
0.000 0.992 0.008
Q96.9 Turner's syndrome, unspecified
0.000 0.992 0.008
Q24.0 Dextrocardia
0.000 0.992 0.008
Q25.9 Congenital malformation of great arteries, unspecified
0.000 0.992 0.008
Q25.8 Other congenital malformations of great arteries
0.000 0.992 0.008
Q25.5 Atresia of pulmonary artery
0.000 0.992 0.008
Q25.2 Atresia of aorta
0.000 0.992 0.008
Q65.8 Other congenital deformities of hip
0.000 0.992 0.008
Q79 Congenital malformations of musculoskeletal system, not elsewhere classified
0.000 0.992 0.008
Q76.5 Cervical rib
0.000 0.992 0.008
Q25.3 Stenosis of aorta
0.000 0.992 0.008
Q28 Other congenital malformations of circulatory system
0.000 0.992 0.008
Q97 Other sex chromosome abnormalities, female phenotype, not elsewhere classified
0.000 0.992 0.008
Q95 Balanced rearrangements and structural markers, not elsewhere classified
0.000 0.992 0.008
Q93 Monosomies and deletions from the autosomes, not elsewhere classified
0.000 0.992 0.008
Q92 Other trisomies and partial trisomies of the autosomes, not elsewhere classified
0.000 0.992 0.008
Q91 Edwards' syndrome and Patau's syndrome
0.000 0.992 0.008
Q15 Other congenital malformations of eye
0.000 0.992 0.008
Q99 Other chromosome abnormalities, not elsewhere classified
0.000 0.992 0.008
H34.2 Other retinal artery occlusions
0.000 0.992 0.008
Q34 Other congenital malformations of respiratory system
0.000 0.992 0.008
Q33 Congenital malformations of lung
0.000 0.992 0.008
Q32 Congenital malformations of trachea and bronchus
0.000 0.992 0.008
Q44 Congenital malformations of gallbladder, bile ducts and liver
0.000 0.992 0.008
Q18 Other congenital malformations of face and neck
0.000 0.992 0.008
Q77.4 Achondroplasia
0.000 0.992 0.007
Q10 Congenital malformations of eyelid, lachrymal apparatus and orbit
0.000 0.992 0.007
Q76.1 Klippel-Feil syndrome
0.000 0.992 0.007
Q76.9 Congenital malformation of bony thorax, unspecified
0.000 0.992 0.007
Q76.8 Other congenital malformations of bony thorax
0.000 0.992 0.007
Q76.7 Congenital malformation of sternum
0.000 0.992 0.007
Q76.6 Other congenital malformations of ribs
0.000 0.992 0.007
Q76.3 Congenital scoliosis due to congenital bony malformation
0.000 0.992 0.007
Q76.2 Congenital spondylolisthesis
0.000 0.992 0.007
Q24.8 Other specified congenital malformations of heart
0.000 0.992 0.007
Q74 Other congenital malformations of limb(s)
0.000 0.992 0.007
Q24.4 Congenital subaortic stenosis
0.000 0.992 0.007
Q24.3 Pulmonary infundibular stenosis
0.000 0.993 0.007
Q24.2 Cor triatriatum
0.000 0.993 0.007
Q24.1 Levocardia
0.000 0.993 0.007
Q30 Congenital malformations of nose
0.000 0.993 0.007
Q66 Congenital deformities of feet
0.000 0.993 0.007
Q27 Other congenital malformations of peripheral vascular system
0.000 0.993 0.007
Q37 Cleft palate with cleft lip
0.000 0.993 0.007
Q36 Cleft lip
0.000 0.993 0.007
Q76.0 Spina bifida occulta
0.000 0.993 0.007
Q13 Congenital malformations of anterior segment of eye
0.000 0.993 0.007
Q16 Congenital malformations of ear causing impairment of hearing
0.000 0.993 0.007
Q90 Down's syndrome
0.000 0.993 0.007
Q78 Other osteochondrodysplasias
0.000 0.993 0.007
Q12 Congenital lens malformations
0.000 0.993 0.007
Q98 Other sex chromosome abnormalities, male phenotype, not elsewhere classified
0.000 0.993 0.007
H34.9 Retinal vascular occlusion, unspecified
0.000 0.993 0.007
Z94.0 Kidney transplant status
0.000 0.993 0.007
Q14 Congenital malformations of posterior segment of eye
0.000 0.993 0.007
Q35 Cleft palate
0.000 0.993 0.007
Q06 Other congenital malformations of spinal cord
0.000 0.993 0.007
Q68.8 Other specified congenital musculoskeletal deformities
0.000 0.993 0.007
Q22.1 Congenital pulmonary valve stenosis
0.000 0.993 0.007
Q50-Q56 Congenital malformations of genital organs
0.000 0.993 0.007
D86.9 Sarcoidosis, unspecified
0.007 0.993 0.000
Q67.6 Pectus excavatum
0.000 0.993 0.007
Q44.6 Cystic disease of liver
0.000 0.993 0.007
Q07 Other congenital malformations of nervous system
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
Q26.4 Anomalous pulmonary venous connexion, unspecified
0.000 0.993 0.007
Q77.9 Osteochondrodysplasia with defects of growth of tubular bones and spine, unspecified
0.000 0.993 0.007
Q77.8 Other osteochondrodysplasia with defects of growth of tubular bones and spine
0.000 0.993 0.007
Q77.7 Spondyloepiphyseal dysplasia
0.000 0.993 0.007
Q77.6 Chondroectodermal dysplasia
0.000 0.993 0.007
Q77.5 Diastrophic dysplasia
0.000 0.993 0.007
Q77.3 Chondrodysplasia punctata
0.000 0.993 0.007
Q77.2 Short rib syndrome
0.000 0.993 0.007
Q77.1 Thanatophoric short stature
0.000 0.993 0.007
Q77.0 Achondrogenesis
0.000 0.993 0.007
Q22.9 Congenital malformation of tricuspid valve, unspecified
0.000 0.993 0.007
Q22.8 Other congenital malformations of tricuspid valve
0.000 0.993 0.007
Q22.6 Hypoplastic right heart syndrome
0.000 0.993 0.007
Q22.4 Congenital tricuspid stenosis
0.000 0.993 0.007
Q22.3 Other congenital malformations of pulmonary valve
0.000 0.993 0.007
Q22.2 Congenital pulmonary valve insufficiency
0.000 0.993 0.007
Q22.0 Pulmonary valve atresia
0.000 0.993 0.007
Q24.9 Congenital malformation of the heart, unspecified
0.000 0.993 0.007
Q26.9 Congenital malformation of great vein, unspecified
0.000 0.993 0.007
Q26.8 Other congenital malformations of great veins
0.000 0.993 0.007
Q26.6 Portal vein-hepatic artery fistula
0.000 0.993 0.007
Q26.5 Anomalous portal venous connexion
0.000 0.993 0.007
Q26.3 Partial anomalous pulmonary venous connexion
0.000 0.993 0.007
Q26.2 Total anomalous pulmonary venous connexion
0.000 0.993 0.007
Q26.1 Persistent left superior vena cava
0.000 0.993 0.007
Q26.0 Congenital stenosis of vena cava
0.000 0.993 0.007
Q96.8 Other variants of Turner's syndrome
0.000 0.993 0.007
Q96.4 Mosaicism, 45,X/other cell line(s) with abnormal sex chromosome
0.000 0.993 0.007
Q96.3 Mosaicism, 45,X/46,XX or XY
0.000 0.993 0.007
Q96.2 Karyotype 46,X with abnormal sex chromosome, except iso (Xq)
0.000 0.993 0.007
Q96.1 Karyotype 46,X iso (Xq)
0.000 0.993 0.007
Q96.0 Karyotype 45,X
0.000 0.993 0.007
Q20.9 Congenital malformation of cardiac chambers and connexions, unspecified
0.000 0.993 0.007
Q20.8 Other congenital malformations of cardiac chambers and connexions
0.000 0.993 0.007
Q20.6 Isomerism of atrial appendages
0.000 0.993 0.007
Q20.5 Discordant atrioventricular connexion
0.000 0.993 0.007
Q20.4 Double inlet ventricle
0.000 0.993 0.007
Q20.3 Discordant ventriculoarterial connexion
0.000 0.993 0.007
Q20.2 Double outlet left ventricle
0.000 0.993 0.007
Q20.1 Double outlet right ventricle
0.000 0.993 0.007
Q20.0 Common arterial trunk
0.000 0.993 0.007
Q17 Other congenital malformations of ear
0.000 0.993 0.007
T43.2 Other and unspecified antidepressants
0.007 0.993 0.000
Q03 Congenital hydrocephalus
0.000 0.993 0.007
Q22.5 Ebstein's anomaly
0.000 0.993 0.006
Q11 Anophthalmos, microphthalmos and macrophthalmos
0.000 0.993 0.006
Q67.4 Other congenital deformities of skull, face and jaw
0.000 0.993 0.006
Q68.5 Congenital bowing of long bones of leg, unspecified
0.000 0.993 0.006
Q68.4 Congenital bowing of tibia and fibula
0.000 0.993 0.006
Q68.3 Congenital bowing of femur
0.000 0.993 0.006
Q68.2 Congenital deformity of knee
0.000 0.993 0.006
Q68.1 Congenital deformity of hand
0.000 0.993 0.006
Q68.0 Congenital deformity of sternocleidomastoid muscle
0.000 0.993 0.006
Q65.9 Congenital deformity of hip, unspecified
0.000 0.993 0.006
Q65.6 Unstable hip
0.000 0.993 0.006
Q65.5 Congenital subluxation of hip, unspecified
0.000 0.993 0.006
Q65.4 Congenital subluxation of hip, bilateral
0.000 0.993 0.006
Q65.3 Congenital subluxation of hip, unilateral
0.000 0.993 0.006
Q70.3 Webbed toes
0.000 0.994 0.006
H34.0 Transient retinal artery occlusion
0.000 0.994 0.006
Q31.3 Laryngocele
0.000 0.994 0.006
Q44.5 Other congenital malformations of bile ducts
0.000 0.994 0.006
Q31.0 Web of larynx
0.000 0.994 0.006
T39.8 Other nonopioid analgesics and antipyretics, not elsewhere classified
0.006 0.994 0.000
Q42 Congenital absence, atresia and stenosis of large intestine
0.000 0.994 0.006
Q41 Congenital absence, atresia and stenosis of small intestine
0.000 0.994 0.006
H34.1 Central retinal artery occlusion
0.000 0.994 0.006
Q15.0 Congenital glaucoma
0.000 0.994 0.006
Q18.1 Preauricular sinus and cyst
0.000 0.994 0.006
Q70.9 Syndactyly, unspecified
0.000 0.994 0.006
Q70.4 Polysyndactyly
0.000 0.994 0.006
Q70.2 Fused toes
0.000 0.994 0.006
Q70.1 Webbed fingers
0.000 0.994 0.006
Q70.0 Fused fingers
0.000 0.994 0.006
T39 Poisoning by nonopioid analgesics, antipyretics and antirheumatics
0.006 0.994 0.000
Q65.1 Congenital dislocation of hip, bilateral
0.000 0.994 0.006
Q67.8 Other congenital deformities of chest
0.000 0.994 0.006
Q67.7 Pectus carinatum
0.000 0.994 0.006
Q67.3 Plagiocephaly
0.000 0.994 0.006
Q67.2 Dolichocephaly
0.000 0.994 0.006
Q67.1 Compression facies
0.000 0.994 0.006
Q67.0 Facial asymmetry
0.000 0.994 0.006
Q24.6 Congenital heart block
0.000 0.994 0.006
Q69.9 Polydactyly, unspecified
0.000 0.994 0.006
Q69.2 Accessory toe(s)
0.000 0.994 0.006
Q69.1 Accessory thumb(s)
0.000 0.994 0.006
Q69.0 Accessory finger(s)
0.000 0.994 0.006
Q71.9 Reduction defect of upper limb, unspecified
0.000 0.994 0.006
Q71.8 Other reduction defects of upper limb(s)
0.000 0.994 0.006
Q71.6 Lobster-claw hand
0.000 0.994 0.006
Q71.5 Longitudinal reduction defect of ulna
0.000 0.994 0.006
Q71.4 Longitudinal reduction defect of radius
0.000 0.994 0.006
Q71.3 Congenital absence of hand and finger(s)
0.000 0.994 0.006
Q71.2 Congenital absence of both forearm and hand
0.000 0.994 0.006
Q71.1 Congenital absence of upper arm and forearm with hand present
0.000 0.994 0.006
Q71.0 Congenital complete absence of upper limb(s)
0.000 0.994 0.006
Q72.9 Reduction defect of lower limb, unspecified
0.000 0.994 0.006
Q72.8 Other reduction defects of lower limb(s)
0.000 0.994 0.006
Q72.7 Split foot
0.000 0.994 0.006
Q72.6 Longitudinal reduction defect of fibula
0.000 0.994 0.006
Q72.5 Longitudinal reduction defect of tibia
0.000 0.994 0.006
Q72.4 Longitudinal reduction defect of femur
0.000 0.994 0.006
Q72.3 Congenital absence of foot and toe(s)
0.000 0.994 0.006
Q72.2 Congenital absence of both lower leg and foot
0.000 0.994 0.006
Q72.1 Congenital absence of thigh and lower leg with foot present
0.000 0.994 0.006
Q72.0 Congenital complete absence of lower limb(s)
0.000 0.994 0.006
Q73.8 Other reduction defects of unspecified limb(s)
0.000 0.994 0.006
Q73.1 Phocomelia, unspecified limb(s)
0.000 0.994 0.006
Q73.0 Congenital absence of unspecified limb(s)
0.000 0.994 0.006
Q28.3 Other malformations of cerebral vessels
0.000 0.994 0.006
Q75.9 Congenital malformation of skull and face bones, unspecified
0.000 0.994 0.006
Q75.8 Other specified congenital malformations of skull and face bones
0.000 0.994 0.006
Q75.5 Oculomandibular dysostosis
0.000 0.994 0.006
Q75.3 Macrocephaly
0.000 0.994 0.006
Q75.2 Hypertelorism
0.000 0.994 0.006
Q75.1 Craniofacial dysostosis
0.000 0.994 0.006
Q75.0 Craniosynostosis
0.000 0.994 0.006
Q75.4 Mandibulofacial dysostosis
0.000 0.994 0.006
M65.91 Synovitis and tenosynovitis, unspecified (Shoulder region)
0.006 0.994 0.000
Q79.6 Ehlers-Danlos syndrome
0.000 0.994 0.006
Q31.9 Congenital malformation of larynx, unspecified
0.000 0.994 0.006
Q31.8 Other congenital malformations of larynx
0.000 0.994 0.006
Q31.5 Congenital laryngomalacia
0.000 0.994 0.006
Q31.4 Congenital laryngeal stridor
0.000 0.994 0.006
Q31.2 Laryngeal hypoplasia
0.000 0.994 0.006
Q31.1 Congenital subglottic stenosis
0.000 0.994 0.006
Q66.7 Pes cavus
0.000 0.994 0.006
Q79.1 Other congenital malformations of diaphragm
0.000 0.994 0.006
Q65.0 Congenital dislocation of hip, unilateral
0.000 0.994 0.006
Q66.2 Metatarsus varus
0.000 0.994 0.006
Q79.9 Congenital malformation of musculoskeletal system, unspecified
0.000 0.994 0.006
Q79.5 Other congenital malformations of abdominal wall
0.000 0.994 0.006
Q79.4 Prune belly syndrome
0.000 0.994 0.006
Q79.3 Gastroschisis
0.000 0.994 0.006
Q79.2 Exomphalos
0.000 0.994 0.006
Q10.0 Congenital ptosis
0.000 0.994 0.006
Q38 Other congenital malformations of tongue, mouth and pharynx
0.000 0.994 0.006
Q28.9 Congenital malformation of circulatory system, unspecified
0.000 0.994 0.006
Q28.8 Other specified congenital malformations of circulatory system
0.000 0.994 0.006
Q28.1 Other malformations of precerebral vessels
0.000 0.994 0.006
Q91.7 Patau's syndrome, unspecified
0.000 0.994 0.006
Q91.6 Trisomy 13, translocation
0.000 0.994 0.006
Q91.5 Trisomy 13, mosaicism (mitotic nondisjunction)
0.000 0.994 0.006
Q91.4 Trisomy 13, meiotic nondisjunction
0.000 0.994 0.006
Q91.3 Edwards' syndrome, unspecified
0.000 0.994 0.006
Q91.2 Trisomy 18, translocation
0.000 0.994 0.006
Q91.1 Trisomy 18, mosaicism (mitotic nondisjunction)
0.000 0.994 0.006
Q91.0 Trisomy 18, meiotic nondisjunction
0.000 0.994 0.006
Q92.9 Trisomy and partial trisomy of autosomes, unspecified
0.000 0.994 0.006
Q92.8 Other specified trisomies and partial trisomies of autosomes
0.000 0.994 0.006
Q92.7 Triploidy and polyploidy
0.000 0.994 0.006
Q92.6 Extra marker chromosomes
0.000 0.994 0.006
Q92.5 Duplications with other complex rearrangements
0.000 0.994 0.006
Q92.4 Duplications seen only at prometaphase
0.000 0.994 0.006
Q92.3 Minor partial trisomy
0.000 0.994 0.006
Q92.2 Major partial trisomy
0.000 0.994 0.006
Q92.1 Whole chromosome trisomy, mosaicism (mitotic nondisjunction)
0.000 0.994 0.006
Q92.0 Whole chromosome trisomy, meiotic nondisjunction
0.000 0.994 0.006
Q93.9 Deletion from autosomes, unspecified
0.000 0.994 0.006
Q93.8 Other deletions from the autosomes
0.000 0.994 0.006
Q93.7 Deletions with other complex rearrangements
0.000 0.994 0.006
Q93.6 Deletions seen only at prometaphase
0.000 0.994 0.006
Q93.5 Other deletions of part of a chromosome
0.000 0.994 0.006
Q93.4 Deletion of short arm of chromosome 5
0.000 0.994 0.006
Q93.3 Deletion of short arm of chromosome 4
0.000 0.994 0.006
Q93.2 Chromosome replaced with ring or dicentric
0.000 0.994 0.006
Q93.1 Whole chromosome monosomy, mosaicism (mitotic nondisjunction)
0.000 0.994 0.006
Q93.0 Whole chromosome monosomy, meiotic nondisjunction
0.000 0.994 0.006
Q95.9 Balanced rearrangement and structural marker, unspecified
0.000 0.994 0.006
Q95.8 Other balanced rearrangements and structural markers
0.000 0.994 0.006
Q95.5 Individuals with autosomal fragile site
0.000 0.994 0.006
Q95.4 Individuals with marker heterochromatin
0.000 0.994 0.006
Q95.3 Balanced sex/autosomal rearrangement in abnormal individual
0.000 0.994 0.006
Q95.2 Balanced autosomal rearrangement in abnormal individual
0.000 0.994 0.006
Q95.1 Chromosome inversion in normal individual
0.000 0.994 0.006
Q95.0 Balanced translocation and insertion in normal individual
0.000 0.994 0.006
Q97.9 Sex chromosome abnormality, female phenotype, unspecified
0.000 0.994 0.006
Q97.8 Other specified sex chromosome abnormalities, female phenotype
0.000 0.994 0.006
Q97.3 Female with 46,XY karyotype
0.000 0.994 0.006
Q97.2 Mosaicism, lines with various numbers of X chromosomes
0.000 0.994 0.006
Q97.1 Female with more than three X chromosomes
0.000 0.994 0.006
Q97.0 Karyotype 47,XXX
0.000 0.994 0.006
Q15.9 Congenital malformation of eye, unspecified
0.000 0.994 0.006
Q15.8 Other specified congenital malformations of eye
0.000 0.994 0.006
Q28.0 Arteriovenous malformation of precerebral vessels
0.000 0.994 0.006
Q44.4 Choledochal cyst
0.000 0.994 0.006
Q99.9 Chromosomal abnormality, unspecified
0.000 0.994 0.006
Q99.2 Fragile X chromosome
0.000 0.994 0.006
Q99.1 46,XX true hermaphrodite
0.000 0.994 0.006
Q99.0 Chimera 46,XX/46,XY
0.000 0.994 0.006
T46.4 Angiotensin-converting-enzyme inhibitors
0.006 0.994 0.000
Q40 Other congenital malformations of upper alimentary tract
0.000 0.994 0.006
Q32.4 Other congenital malformations of bronchus
0.000 0.994 0.006
Q32.3 Congenital stenosis of bronchus
0.000 0.994 0.006
Q32.2 Congenital bronchomalacia
0.000 0.994 0.006
Q32.1 Other congenital malformations of trachea
0.000 0.994 0.006
Q32.0 Congenital tracheomalacia
0.000 0.994 0.006
Q33.9 Congenital malformation of lung, unspecified
0.000 0.994 0.006
Q33.8 Other congenital malformations of lung
0.000 0.994 0.006
Q33.6 Hypoplasia and dysplasia of lung
0.000 0.994 0.006
Q33.5 Ectopic tissue in lung
0.000 0.994 0.006
Q33.4 Congenital bronchiectasis
0.000 0.994 0.006
Q33.3 Agenesis of lung
0.000 0.994 0.006
Q33.2 Sequestration of lung
0.000 0.994 0.006
Q33.1 Accessory lobe of lung
0.000 0.994 0.006
Q33.0 Congenital cystic lung
0.000 0.994 0.006
Q34.9 Congenital malformation of respiratory system, unspecified
0.000 0.994 0.006
Q34.8 Other specified congenital malformations of respiratory system
0.000 0.994 0.006
Q34.1 Congenital cyst of mediastinum
0.000 0.994 0.006
Q34.0 Anomaly of pleura
0.000 0.994 0.006
Q99.8 Other specified chromosome abnormalities
0.000 0.994 0.006
Q55 Other congenital malformations of male genital organs
0.000 0.994 0.006
Q44.3 Congenital stenosis and stricture of bile ducts
0.000 0.994 0.006
Q44.2 Atresia of bile ducts
0.000 0.994 0.006
Q44.1 Other congenital malformations of gallbladder
0.000 0.994 0.006
Q44.0 Agenesis, aplasia and hypoplasia of gallbladder
0.000 0.994 0.006
Q18.9 Congenital malformation of face and neck, unspecified
0.000 0.994 0.006
Q18.8 Other specified congenital malformations of face and neck
0.000 0.994 0.006
Q18.7 Microcheilia
0.000 0.994 0.006
Q18.6 Macrocheilia
0.000 0.994 0.006
Q18.5 Microstomia
0.000 0.994 0.006
Q18.4 Macrostomia
0.000 0.994 0.006
Q18.3 Webbing of neck
0.000 0.994 0.006
Q18.2 Other branchial cleft malformations
0.000 0.994 0.006
Q45 Other congenital malformations of digestive system
0.000 0.994 0.006
Q43 Other congenital malformations of intestine
0.000 0.994 0.006
C54.1 Endometrium
0.006 0.994 0.000
Q10.7 Congenital malformation of orbit
0.000 0.994 0.005
Q10.6 Other congenital malformations of lachrymal apparatus
0.000 0.994 0.005
Q10.5 Congenital stenosis and stricture of lachrymal duct
0.000 0.994 0.005
Q10.4 Absence and agenesis of lachrymal apparatus
0.000 0.994 0.005
Q10.3 Other congenital malformations of eyelid
0.000 0.994 0.005
Q10.2 Congenital entropion
0.000 0.994 0.005
Q10.1 Congenital ectropion
0.000 0.994 0.005
Q66.3 Other congenital varus deformities of feet
0.000 0.994 0.006
Q74.2 Other congenital malformations of lower limb(s), including pelvic girdle
0.000 0.994 0.006
I47.0 Reentry ventricular arrhythmia
0.000 0.994 0.006
Q74.9 Unspecified congenital malformation of limb(s)
0.000 0.994 0.005
Q74.8 Other specified congenital malformations of limb(s)
0.000 0.994 0.005
Q74.3 Arthrogryposis multiplex congenita
0.000 0.994 0.005
Q79.8 Other congenital malformations of musculoskeletal system
0.000 0.994 0.005
Q05 Spina bifida
0.000 0.994 0.006
Q79.0 Congenital diaphragmatic hernia
0.000 0.994 0.005
Q27.9 Congenital malformation of peripheral vascular system, unspecified
0.000 0.994 0.005
Q30.8 Other congenital malformations of nose
0.000 0.994 0.005
Q30.2 Fissured, notched and cleft nose
0.000 0.994 0.005
Q30.1 Agenesis and underdevelopment of nose
0.000 0.994 0.005
Q30.0 Choanal atresia
0.000 0.994 0.005
Q66.5 Congenital pes planus
0.000 0.994 0.005
Q66.4 Talipes calcaneovalgus
0.000 0.994 0.005
Q66.1 Talipes calcaneovarus
0.000 0.994 0.005
Q27.4 Congenital phlebectasia
0.000 0.994 0.005
Q27.2 Other congenital malformations of renal artery
0.000 0.994 0.005
Q27.1 Congenital renal artery stenosis
0.000 0.994 0.005
Q27.0 Congenital absence and hypoplasia of umbilical artery
0.000 0.994 0.005
Q06.8 Other specified congenital malformations of spinal cord
0.000 0.994 0.005
Q36.9 Cleft lip, unilateral
0.000 0.994 0.005
Q36.1 Cleft lip, medial
0.000 0.994 0.005
Q36.0 Cleft lip, bilateral
0.000 0.994 0.005
Q37.9 Unspecified cleft palate with unilateral cleft lip
0.000 0.994 0.005
Q37.8 Unspecified cleft palate with bilateral cleft lip
0.000 0.994 0.005
Q37.5 Cleft hard and soft palate with unilateral cleft lip
0.000 0.994 0.005
Q37.4 Cleft hard and soft palate with bilateral cleft lip
0.000 0.994 0.005
Q37.3 Cleft soft palate with unilateral cleft lip
0.000 0.994 0.005
Q37.2 Cleft soft palate with bilateral cleft lip
0.000 0.994 0.005
Q37.1 Cleft hard palate with unilateral cleft lip
0.000 0.994 0.005
Q37.0 Cleft hard palate with bilateral cleft lip
0.000 0.994 0.005
Q21 Congenital malformations of cardiac septa
0.000 0.994 0.005
K09.0 Developmental odontogenic cysts
0.006 0.994 0.000
Q13.9 Congenital malformation of anterior segment of eye, unspecified
0.000 0.994 0.005
Q13.8 Other congenital malformations of anterior segment of eye
0.000 0.994 0.005
Q13.5 Blue sclera
0.000 0.994 0.005
Q13.4 Other congenital corneal malformations
0.000 0.994 0.005
Q13.3 Congenital corneal opacity
0.000 0.994 0.005
Q13.2 Other congenital malformations of iris
0.000 0.994 0.005
Q13.1 Absence of iris
0.000 0.994 0.005
Q13.0 Coloboma of iris
0.000 0.994 0.005
Q27.8 Other specified congenital malformations of peripheral vascular system
0.000 0.994 0.005
Q16.5 Congenital malformation of inner ear
0.000 0.994 0.005
Q16.4 Other congenital malformations of middle ear
0.000 0.994 0.005
Q16.3 Congenital malformation of ear ossicles
0.000 0.994 0.005
Q16.2 Absence of eustachian tube
0.000 0.994 0.005
Q16.1 Congenital absence, atresia and stricture of auditory canal (external)
0.000 0.994 0.005
Q16.0 Congenital absence of (ear) auricle
0.000 0.994 0.005
Q65.2 Congenital dislocation of hip, unspecified
0.000 0.994 0.005
Q78.9 Osteochondrodysplasia, unspecified
0.000 0.994 0.005
Q78.8 Other specified osteochondrodysplasias
0.000 0.994 0.005
Q78.6 Multiple congenital exostoses
0.000 0.994 0.005
Q78.5 Metaphyseal dysplasia
0.000 0.994 0.005
Q78.4 Enchondromatosis
0.000 0.994 0.005
Q78.3 Progressive diaphyseal dysplasia
0.000 0.994 0.005
Q78.1 Polyostotic fibrous dysplasia
0.000 0.994 0.005
Q90.2 Trisomy 21, translocation
0.000 0.994 0.005
Q90.1 Trisomy 21, mosaicism (mitotic nondisjunction)
0.000 0.994 0.005
Q90.0 Trisomy 21, meiotic nondisjunction
0.000 0.994 0.005
Q30.3 Congenital perforated nasal septum
0.000 0.994 0.005
Q12.9 Congenital lens malformation, unspecified
0.000 0.995 0.005
Q12.8 Other congenital lens malformations
0.000 0.995 0.005
Q12.4 Spherophakia
0.000 0.995 0.005
Q12.3 Congenital aphakia
0.000 0.995 0.005
Q12.2 Coloboma of lens
0.000 0.995 0.005
Q12.1 Congenital displaced lens
0.000 0.995 0.005
Q16.9 Congenital malformation of ear causing impairment of hearing, unspecified
0.000 0.995 0.005
Q04.8 Other specified congenital malformations of brain
0.000 0.995 0.005
Q30.9 Congenital malformation of nose, unspecified
0.000 0.995 0.005
Q98.9 Sex chromosome abnormality, male phenotype, unspecified
0.000 0.995 0.005
Q98.8 Other specified sex chromosome abnormalities, male phenotype
0.000 0.995 0.005
Q98.7 Male with sex chromosome mosaicism
0.000 0.995 0.005
Q98.6 Male with structurally abnormal sex chromosome
0.000 0.995 0.005
Q98.5 Karyotype 47,XYY
0.000 0.995 0.005
Q98.3 Other male with 46,XX karyotype
0.000 0.995 0.005
Q98.2 Klinefelter's syndrome, male with 46,XX karyotype
0.000 0.995 0.005
Q98.1 Klinefelter's syndrome, male with more than two X chromosomes
0.000 0.995 0.005
Q98.0 Klinefelter's syndrome karyotype 47,XXY
0.000 0.995 0.005
Q74.1 Congenital malformation of knee
0.000 0.995 0.005
Q14.9 Congenital malformation of posterior segment of eye, unspecified
0.000 0.995 0.005
Q14.8 Other congenital malformations of posterior segment of eye
0.000 0.995 0.005
Q14.3 Congenital malformation of choroid
0.000 0.995 0.005
Q14.2 Congenital malformation of optic disk
0.000 0.995 0.005
Q14.0 Congenital malformation of vitreous humour
0.000 0.995 0.005
Q39 Congenital malformations of oesophagus
0.000 0.995 0.005
Q35.8 (Cleft palate, unspecified, bilateral)
0.000 0.995 0.005
Q35.7 Cleft uvula
0.000 0.995 0.005
Q35.6 Cleft palate, medial
0.000 0.995 0.005
Q35.5 Cleft hard palate with cleft soft palate
0.000 0.995 0.005
Q35.4 (Cleft hard palate with cleft soft palate, bilateral)
0.000 0.995 0.005
Q35.3 Cleft soft palate
0.000 0.995 0.005
Q35.2 (Cleft soft palate, bilateral)
0.000 0.995 0.005
Q35.1 Cleft hard palate
0.000 0.995 0.005
Q35.0 (Cleft hard palate, bilateral)
0.000 0.995 0.005
Q66.9 Congenital deformity of feet, unspecified
0.000 0.995 0.005
Q66.0 Talipes equinovarus
0.000 0.995 0.005
Q67.5 Congenital deformity of spine
0.000 0.995 0.005
Q06.9 Congenital malformation of spinal cord, unspecified
0.000 0.995 0.005
Q06.4 Hydromyelia
0.000 0.995 0.005
Q06.3 Other congenital cauda equina malformations
0.000 0.995 0.005

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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