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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

rs10876432
log Bayes Factor = <0.0001
Chromosome 12   position 53,731,891  (GRCh37) Explore rs10876432 on Ensembl!
Variant rs10876432 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
  
S52.50 Fracture of lower end of radius (closed)
0.080 0.920 0.000
S52.5 Fracture of lower end of radius
0.050 0.950 0.000
S52.51 Fracture of lower end of radius (open)
0.043 0.957 0.000
Q23.1 Congenital insufficiency of aortic valve
0.000 0.967 0.033
Q23 Congenital malformations of aortic and mitral valves
0.000 0.969 0.031
Q20-Q28 Congenital malformations of the circulatory system
0.000 0.969 0.031
M47.86 Other spondylosis (Lumbar region)
0.000 0.971 0.029
M47.8 Other spondylosis
0.000 0.973 0.027
Q25 Congenital malformations of great arteries
0.000 0.973 0.027
Q24 Other congenital malformations of heart
0.000 0.974 0.026
Q22 Congenital malformations of pulmonary and tricuspid valves
0.000 0.974 0.026
Chapter XVII Congenital malformations, deformations and chromosomal abnormalities
0.000 0.974 0.026
M47.82 Other spondylosis (Cervical region)
0.000 0.975 0.025
Q28 Other congenital malformations of circulatory system
0.000 0.975 0.025
Q27 Other congenital malformations of peripheral vascular system
0.000 0.976 0.024
Q80-Q89 Other congenital malformations
0.000 0.976 0.024
Q82 Other congenital malformations of skin
0.000 0.976 0.023
Q82.8 Other specified congenital malformations of skin
0.000 0.977 0.023
Q90-Q99 Chromosomal abnormalities, not elsewhere classified
0.000 0.977 0.023
Q50-Q56 Congenital malformations of genital organs
0.000 0.977 0.023
Q23.9 Congenital malformation of aortic and mitral valves, unspecified
0.000 0.977 0.022
Q23.8 Other congenital malformations of aortic and mitral valves
0.000 0.977 0.022
Q23.4 Hypoplastic left heart syndrome
0.000 0.977 0.022
Q23.2 Congenital mitral stenosis
0.000 0.977 0.022
Q25.1 Coarctation of aorta
0.000 0.977 0.023
Q23.0 Congenital stenosis of aortic valve
0.000 0.977 0.022
Q24.9 Congenital malformation of the heart, unspecified
0.000 0.978 0.022
M47.89 Other spondylosis (Site unspecified)
0.000 0.978 0.022
Q20 Congenital malformations of cardiac chambers and connexions
0.000 0.978 0.022
Q25.6 Stenosis of pulmonary artery
0.000 0.978 0.022
Q22.5 Ebstein's anomaly
0.000 0.978 0.022
Q50 Congenital malformations of ovaries, Fallopian tubes and broad ligaments
0.000 0.978 0.022
Q23.3 Congenital mitral insufficiency
0.000 0.978 0.021
M47.87 Other spondylosis (Lumbosacral region)
0.000 0.978 0.022
Q25.4 Other congenital malformations of aorta
0.000 0.979 0.021
Q30-Q34 Congenital malformations of the respiratory system
0.000 0.979 0.021
Q24.4 Congenital subaortic stenosis
0.000 0.979 0.021
Q22.1 Congenital pulmonary valve stenosis
0.000 0.979 0.021
Q26 Congenital malformations of great veins
0.000 0.979 0.021
Q65-Q79 Congenital malformations and deformations of the musculoskeletal system
0.000 0.979 0.021
Q99 Other chromosome abnormalities, not elsewhere classified
0.000 0.979 0.021
Q50.4 Embryonic cyst of Fallopian tube
0.000 0.979 0.021
Q24.6 Congenital heart block
0.000 0.980 0.020
Q38-Q45 Other congenital malformations of the digestive system
0.000 0.980 0.020
Q25.3 Stenosis of aorta
0.000 0.980 0.020
M47.80 Other spondylosis (Multiple sites in spine)
0.000 0.980 0.020
Q24.0 Dextrocardia
0.000 0.980 0.020
Q87 Other specified congenital malformation syndromes affecting multiple systems
0.000 0.980 0.020
M47.88 Other spondylosis (Sacral and sacrococcygeal region)
0.000 0.980 0.020
Q28.3 Other malformations of cerebral vessels
0.000 0.980 0.020
M47.81 Other spondylosis (Occipito-atlanto-axial region)
0.000 0.980 0.019
Q25.9 Congenital malformation of great arteries, unspecified
0.000 0.981 0.019
Q25.8 Other congenital malformations of great arteries
0.000 0.981 0.019
Q25.5 Atresia of pulmonary artery
0.000 0.981 0.019
Q25.2 Atresia of aorta
0.000 0.981 0.019
M47.85 Other spondylosis (Thoracolumbar region)
0.000 0.981 0.019
Q27.8 Other specified congenital malformations of peripheral vascular system
0.000 0.981 0.019
Q24.3 Pulmonary infundibular stenosis
0.000 0.981 0.019
Q24.2 Cor triatriatum
0.000 0.981 0.019
Q24.1 Levocardia
0.000 0.981 0.019
Q22.9 Congenital malformation of tricuspid valve, unspecified
0.000 0.981 0.019
Q22.8 Other congenital malformations of tricuspid valve
0.000 0.981 0.019
Q22.6 Hypoplastic right heart syndrome
0.000 0.981 0.019
Q22.4 Congenital tricuspid stenosis
0.000 0.981 0.019
Q22.3 Other congenital malformations of pulmonary valve
0.000 0.981 0.019
Q22.2 Congenital pulmonary valve insufficiency
0.000 0.981 0.019
Q22.0 Pulmonary valve atresia
0.000 0.981 0.019
Q25.7 Other congenital malformations of pulmonary artery
0.000 0.981 0.019
Q24.5 Malformation of coronary vessels
0.000 0.981 0.019
Q52 Other congenital malformations of female genitalia
0.000 0.981 0.019
Q99.8 Other specified chromosome abnormalities
0.000 0.981 0.019
Q28.0 Arteriovenous malformation of precerebral vessels
0.000 0.981 0.019
Q27.9 Congenital malformation of peripheral vascular system, unspecified
0.000 0.981 0.019
Q54 Hypospadias
0.000 0.981 0.018
Q28.2 Arteriovenous malformation of cerebral vessels
0.000 0.981 0.018
Q35-Q37 Cleft lip and cleft palate
0.000 0.981 0.018
Q27.1 Congenital renal artery stenosis
0.000 0.982 0.018
M47.83 Other spondylosis (Cervicothoracic region)
0.000 0.982 0.018
Q45 Other congenital malformations of digestive system
0.000 0.982 0.018
Q76 Congenital malformations of spine and bony thorax
0.000 0.982 0.018
S42.30 Fracture of shaft of humerus (closed)
0.018 0.982 0.000
Q90 Down's syndrome
0.000 0.982 0.018
Q28.9 Congenital malformation of circulatory system, unspecified
0.000 0.982 0.018
Q28.8 Other specified congenital malformations of circulatory system
0.000 0.982 0.018
Q28.1 Other malformations of precerebral vessels
0.000 0.982 0.018
Q98 Other sex chromosome abnormalities, male phenotype, not elsewhere classified
0.000 0.982 0.018
Q82.5 Congenital nonneoplastic naevus
0.000 0.982 0.018
Q10-Q18 Congenital malformations of eye, ear, face and neck
0.000 0.982 0.018
M47.84 Other spondylosis (Thoracic region)
0.000 0.982 0.018
Q87.1 Congenital malformation syndromes predominantly associated with short stature
0.000 0.982 0.018
Q27.4 Congenital phlebectasia
0.000 0.982 0.017
Q27.2 Other congenital malformations of renal artery
0.000 0.982 0.017
Q27.0 Congenital absence and hypoplasia of umbilical artery
0.000 0.982 0.017
Q82.2 Mastocytosis
0.000 0.982 0.017
Q86 Congenital malformation syndromes due to known exogenous causes, not elsewhere classified
0.000 0.983 0.017
Q84 Other congenital malformations of integument
0.000 0.983 0.017
Q81 Epidermolysis bullosa
0.000 0.983 0.017
Q31 Congenital malformations of larynx
0.000 0.983 0.017
Q50.5 Embryonic cyst of broad ligament
0.000 0.983 0.017
Q83 Congenital malformations of breast
0.000 0.983 0.017
Q82.9 Congenital malformation of skin, unspecified
0.000 0.983 0.017
Q82.4 Ectodermal dysplasia (anhidrotic)
0.000 0.983 0.017
Q82.3 Incontinentia pigmenti
0.000 0.983 0.017
Q82.1 Xeroderma pigmentosum
0.000 0.983 0.017
Q39 Congenital malformations of oesophagus
0.000 0.983 0.017
Q76.0 Spina bifida occulta
0.000 0.983 0.017
Q97 Other sex chromosome abnormalities, female phenotype, not elsewhere classified
0.000 0.983 0.017
Q95 Balanced rearrangements and structural markers, not elsewhere classified
0.000 0.983 0.017
Q93 Monosomies and deletions from the autosomes, not elsewhere classified
0.000 0.983 0.017
Q92 Other trisomies and partial trisomies of the autosomes, not elsewhere classified
0.000 0.983 0.017
Q91 Edwards' syndrome and Patau's syndrome
0.000 0.983 0.017
M47.9 Spondylosis, unspecified
0.000 0.983 0.017
Q54.9 Hypospadias, unspecified
0.000 0.983 0.017
Q79 Congenital malformations of musculoskeletal system, not elsewhere classified
0.000 0.983 0.017
Q82.0 Hereditary lymphoedema
0.000 0.983 0.016
Q56 Indeterminate sex and pseudohermaphroditism
0.000 0.983 0.016
M47 Spondylosis
0.000 0.983 0.017
Q80 Congenital ichthyosis
0.000 0.983 0.016
Q67 Congenital musculoskeletal deformities of head, face, spine and chest
0.000 0.983 0.017
Q00-Q07 Congenital malformations of the nervous system
0.000 0.984 0.016
Q44 Congenital malformations of gallbladder, bile ducts and liver
0.000 0.984 0.016
Q20.9 Congenital malformation of cardiac chambers and connexions, unspecified
0.000 0.984 0.016
Q20.8 Other congenital malformations of cardiac chambers and connexions
0.000 0.984 0.016
Q20.6 Isomerism of atrial appendages
0.000 0.984 0.016
Q20.5 Discordant atrioventricular connexion
0.000 0.984 0.016
Q20.4 Double inlet ventricle
0.000 0.984 0.016
Q20.3 Discordant ventriculoarterial connexion
0.000 0.984 0.016
Q20.2 Double outlet left ventricle
0.000 0.984 0.016
Q20.1 Double outlet right ventricle
0.000 0.984 0.016
Q20.0 Common arterial trunk
0.000 0.984 0.016
Q25.0 Patent ductus arteriosus
0.000 0.984 0.016
Q74 Other congenital malformations of limb(s)
0.000 0.984 0.016
Q45.8 Other specified congenital malformations of digestive system
0.000 0.984 0.016
Q24.8 Other specified congenital malformations of heart
0.000 0.984 0.016
Q50.6 Other congenital malformatons of Fallopian tube and broad ligament
0.000 0.984 0.016
Q50.3 Other congenital malformations of ovary
0.000 0.984 0.016
Q50.2 Congenital torsion of ovary
0.000 0.984 0.016
Q50.1 Developmental ovarian cyst
0.000 0.984 0.016
Q50.0 Congenital absence of ovary
0.000 0.984 0.016
Q87.2 Congenital malformation syndromes predominantly involving limbs
0.000 0.984 0.016
Q30 Congenital malformations of nose
0.000 0.984 0.016
M47.96 Spondylosis, unspecified (Lumbar region)
0.000 0.984 0.016
Q52.4 Other congenital malformations of vagina
0.000 0.984 0.016
Q52.1 Doubling of vagina
0.000 0.984 0.016
Q27.3 Peripheral arteriovenous malformation
0.000 0.984 0.015
Q96 Turner's syndrome
0.000 0.984 0.015
Q53 Undescended testicle
0.000 0.984 0.015
Q34 Other congenital malformations of respiratory system
0.000 0.985 0.015
Q33 Congenital malformations of lung
0.000 0.985 0.015
Q32 Congenital malformations of trachea and bronchus
0.000 0.985 0.015
Q68 Other congenital musculoskeletal deformities
0.000 0.985 0.015
M47.90 Spondylosis, unspecified (Multiple sites in spine)
0.000 0.985 0.015
Q70 Syndactyly
0.000 0.985 0.015
Q26.9 Congenital malformation of great vein, unspecified
0.000 0.985 0.015
Q26.8 Other congenital malformations of great veins
0.000 0.985 0.015
Q26.6 Portal vein-hepatic artery fistula
0.000 0.985 0.015
Q26.5 Anomalous portal venous connexion
0.000 0.985 0.015
Q26.3 Partial anomalous pulmonary venous connexion
0.000 0.985 0.015
Q26.2 Total anomalous pulmonary venous connexion
0.000 0.985 0.015
Q26.1 Persistent left superior vena cava
0.000 0.985 0.015
Q26.0 Congenital stenosis of vena cava
0.000 0.985 0.015
Q73 Reduction defects of unspecified limb
0.000 0.985 0.015
Q72 Reduction defects of lower limb
0.000 0.985 0.015
Q71 Reduction defects of upper limb
0.000 0.985 0.015
Q69 Polydactyly
0.000 0.985 0.015
Q99.9 Chromosomal abnormality, unspecified
0.000 0.985 0.015
Q99.2 Fragile X chromosome
0.000 0.985 0.015
Q99.1 46,XX true hermaphrodite
0.000 0.985 0.015
Q99.0 Chimera 46,XX/46,XY
0.000 0.985 0.015
Q77 Osteochondrodysplasia with defects of growth of tubular bones and spine
0.000 0.985 0.015
Q45.3 Other congenital malformations of pancreas and pancreatic duct
0.000 0.985 0.015
Q42 Congenital absence, atresia and stenosis of large intestine
0.000 0.985 0.015
Q41 Congenital absence, atresia and stenosis of small intestine
0.000 0.985 0.015
Q10 Congenital malformations of eyelid, lachrymal apparatus and orbit
0.000 0.985 0.015
Q85 Phakomatoses, not elsewhere classified
0.000 0.985 0.015
Q79.6 Ehlers-Danlos syndrome
0.000 0.985 0.015
Q87.5 Other congenital malformation syndromes with other skeletal changes
0.000 0.985 0.015
Q87.3 Congenital malformation syndromes involving early overgrowth
0.000 0.985 0.015
Q87.8 Other specified congenital malformation syndromes, not elsewhere classified
0.000 0.985 0.014
Q87.0 Congenital malformation syndromes predominantly affecting facial appearance
0.000 0.985 0.014
Q31.3 Laryngocele
0.000 0.986 0.014
Q75 Other congenital malformations of skull and face bones
0.000 0.986 0.014
Q90.9 Down's syndrome, unspecified
0.000 0.986 0.014
Q39.9 Congenital malformation of oesophagus, unspecified
0.000 0.986 0.014
Q98.4 Klinefelter's syndrome, unspecified
0.000 0.986 0.014
Q17 Other congenital malformations of ear
0.000 0.986 0.014
Q74.0 Other congenital malformations of upper limb(s), including shoulder girdle
0.000 0.986 0.014
M47.93 Spondylosis, unspecified (Cervicothoracic region)
0.000 0.986 0.014
Q52.9 Congenital malformation of female genitalia, unspecified
0.000 0.986 0.014
Q52.7 Other congenital malformations of vulva
0.000 0.986 0.014
Q52.6 Congenital malformation of clitoris
0.000 0.986 0.014
Q52.3 Imperforate hymen
0.000 0.986 0.014
Q52.2 Congenital rectovaginal fistula
0.000 0.986 0.014
Q52.0 Congenital absence of vagina
0.000 0.986 0.014
Q76.1 Klippel-Feil syndrome
0.000 0.986 0.014
Q44.6 Cystic disease of liver
0.000 0.986 0.014
Q26.4 Anomalous pulmonary venous connexion, unspecified
0.000 0.986 0.013
Q78 Other osteochondrodysplasias
0.000 0.986 0.014
Q54.4 Congenital chordee
0.000 0.986 0.013
Q54.3 Hypospadias, perineal
0.000 0.986 0.013
Q54.2 Hypospadias, penoscrotal
0.000 0.986 0.013
Q89 Other congenital malformations, not elsewhere classified
0.000 0.986 0.013
Q36 Cleft lip
0.000 0.986 0.013
Q54.1 Hypospadias, penile
0.000 0.986 0.013
Q37 Cleft palate with cleft lip
0.000 0.986 0.013
Q52.5 Fusion of labia
0.000 0.987 0.013
Q45.9 Congenital malformation of digestive system, unspecified
0.000 0.987 0.013
Q45.2 Congenital pancreatic cyst
0.000 0.987 0.013
Q45.1 Annular pancreas
0.000 0.987 0.013
Q45.0 Agenesis, aplasia and hypoplasia of pancreas
0.000 0.987 0.013
Q76.9 Congenital malformation of bony thorax, unspecified
0.000 0.987 0.013
Q76.8 Other congenital malformations of bony thorax
0.000 0.987 0.013
Q76.7 Congenital malformation of sternum
0.000 0.987 0.013
Q76.6 Other congenital malformations of ribs
0.000 0.987 0.013
Q76.3 Congenital scoliosis due to congenital bony malformation
0.000 0.987 0.013
Q76.2 Congenital spondylolisthesis
0.000 0.987 0.013
M81.90 Osteoporosis, unspecified (Multiple sites)
0.013 0.987 0.000
Q54.8 Other hypospadias
0.000 0.987 0.013
Q90.2 Trisomy 21, translocation
0.000 0.987 0.013
Q90.1 Trisomy 21, mosaicism (mitotic nondisjunction)
0.000 0.987 0.013
Q90.0 Trisomy 21, meiotic nondisjunction
0.000 0.987 0.013
Q67.6 Pectus excavatum
0.000 0.987 0.013
Q98.9 Sex chromosome abnormality, male phenotype, unspecified
0.000 0.987 0.013
Q98.8 Other specified sex chromosome abnormalities, male phenotype
0.000 0.987 0.013
Q98.7 Male with sex chromosome mosaicism
0.000 0.987 0.013
Q98.6 Male with structurally abnormal sex chromosome
0.000 0.987 0.013
Q98.5 Karyotype 47,XYY
0.000 0.987 0.013
Q98.3 Other male with 46,XX karyotype
0.000 0.987 0.013
Q98.2 Klinefelter's syndrome, male with 46,XX karyotype
0.000 0.987 0.013
Q98.1 Klinefelter's syndrome, male with more than two X chromosomes
0.000 0.987 0.013
Q98.0 Klinefelter's syndrome karyotype 47,XXY
0.000 0.987 0.013
Q05 Spina bifida
0.000 0.987 0.013
Q15 Other congenital malformations of eye
0.000 0.987 0.013
Q31.0 Web of larynx
0.000 0.987 0.013
Q83.8 Other congenital malformations of breast
0.000 0.987 0.013
M47.98 Spondylosis, unspecified (Sacral and sacrococcygeal region)
0.000 0.987 0.013
Q39.6 Diverticulum of oesophagus
0.000 0.987 0.013
Q16 Congenital malformations of ear causing impairment of hearing
0.000 0.987 0.013
Q13 Congenital malformations of anterior segment of eye
0.000 0.987 0.013
Q65 Congenital deformities of hip
0.000 0.987 0.013
Q53.9 Undescended testicle, unspecified
0.000 0.987 0.013
Q35 Cleft palate
0.000 0.987 0.013
Q52.8 Other specified congenital malformations of female genitalia
0.000 0.987 0.013
Q40 Other congenital malformations of upper alimentary tract
0.000 0.987 0.013
Q87.4 Marfan's syndrome
0.000 0.987 0.013
Q81.9 Epidermolysis bullosa, unspecified
0.000 0.987 0.013
Q81.8 Other epidermolysis bullosa
0.000 0.987 0.013
Q81.2 Epidermolysis bullosa dystrophica
0.000 0.987 0.013
Q81.1 Epidermolysis bullosa letalis
0.000 0.987 0.013
Q81.0 Epidermolysis bullosa simplex
0.000 0.987 0.013
Q84.9 Congenital malformation of integument, unspecified
0.000 0.987 0.013
Q84.8 Other specified congenital malformations of integument
0.000 0.987 0.013
Q84.6 Other congenital malformations of nails
0.000 0.987 0.013
Q84.5 Enlarged and hypertrophic nails
0.000 0.987 0.013
Q84.4 Congenital leukonychia
0.000 0.987 0.013
Q84.3 Anonychia
0.000 0.987 0.013
Q84.2 Other congenital malformations of hair
0.000 0.987 0.013
Q84.1 Congenital morphological disturbances of hair, not elsewhere classified
0.000 0.987 0.013
Q84.0 Congenital alopecia
0.000 0.987 0.013
Q86.8 Other congenital malformation syndromes due to known exogenous causes
0.000 0.987 0.013
Q86.2 Dysmorphism due to warfarin
0.000 0.987 0.013
Q86.1 Foetal hydantoin syndrome
0.000 0.987 0.013
Q86.0 Foetal alcohol syndrome (dysmorphic)
0.000 0.987 0.013
Q31.9 Congenital malformation of larynx, unspecified
0.000 0.987 0.013
Q31.8 Other congenital malformations of larynx
0.000 0.987 0.013
Q31.5 Congenital laryngomalacia
0.000 0.987 0.013
Q31.4 Congenital laryngeal stridor
0.000 0.987 0.013
Q31.2 Laryngeal hypoplasia
0.000 0.987 0.013
Q31.1 Congenital subglottic stenosis
0.000 0.987 0.013
Q55 Other congenital malformations of male genital organs
0.000 0.987 0.012
Q76.4 Other congenital malformations of spine, not associated with scoliosis
0.000 0.987 0.013
Q14 Congenital malformations of posterior segment of eye
0.000 0.987 0.012
Q10.0 Congenital ptosis
0.000 0.987 0.013
Q83.9 Congenital malformation of breast, unspecified
0.000 0.987 0.012
Q83.2 Absent nipple
0.000 0.987 0.012
Q83.0 Congenital absence of breast with absent nipple
0.000 0.987 0.012
Q67.4 Other congenital deformities of skull, face and jaw
0.000 0.987 0.012
M47.1 Other spondylosis with myelopathy
0.000 0.987 0.013
M81.99 Osteoporosis, unspecified (Site unspecified)
0.013 0.987 0.000
Q39.8 Other congenital malformations of oesophagus
0.000 0.987 0.012
Q39.5 Congenital dilatation of oesophagus
0.000 0.987 0.012
Q39.3 Congenital stenosis and stricture of oesophagus
0.000 0.987 0.012
Q39.2 Congenital tracheooesophageal fistula without atresia
0.000 0.987 0.012
Q39.1 Atresia of oesophagus with tracheooesophageal fistula
0.000 0.987 0.012
Q39.0 Atresia of oesophagus without fistula
0.000 0.987 0.012
Q83.1 Accessory breast
0.000 0.987 0.012
Q91.7 Patau's syndrome, unspecified
0.000 0.988 0.012
Q91.6 Trisomy 13, translocation
0.000 0.988 0.012
Q91.5 Trisomy 13, mosaicism (mitotic nondisjunction)
0.000 0.988 0.012
Q91.4 Trisomy 13, meiotic nondisjunction
0.000 0.988 0.012
Q91.3 Edwards' syndrome, unspecified
0.000 0.988 0.012
Q91.2 Trisomy 18, translocation
0.000 0.988 0.012
Q91.1 Trisomy 18, mosaicism (mitotic nondisjunction)
0.000 0.988 0.012
Q91.0 Trisomy 18, meiotic nondisjunction
0.000 0.988 0.012
Q92.9 Trisomy and partial trisomy of autosomes, unspecified
0.000 0.988 0.012
Q92.8 Other specified trisomies and partial trisomies of autosomes
0.000 0.988 0.012
Q92.7 Triploidy and polyploidy
0.000 0.988 0.012
Q92.6 Extra marker chromosomes
0.000 0.988 0.012
Q92.5 Duplications with other complex rearrangements
0.000 0.988 0.012
Q92.4 Duplications seen only at prometaphase
0.000 0.988 0.012
Q92.3 Minor partial trisomy
0.000 0.988 0.012
Q92.2 Major partial trisomy
0.000 0.988 0.012
Q92.1 Whole chromosome trisomy, mosaicism (mitotic nondisjunction)
0.000 0.988 0.012
Q92.0 Whole chromosome trisomy, meiotic nondisjunction
0.000 0.988 0.012
Q93.9 Deletion from autosomes, unspecified
0.000 0.988 0.012
Q93.8 Other deletions from the autosomes
0.000 0.988 0.012
Q93.7 Deletions with other complex rearrangements
0.000 0.988 0.012
Q93.6 Deletions seen only at prometaphase
0.000 0.988 0.012
Q93.5 Other deletions of part of a chromosome
0.000 0.988 0.012
Q93.4 Deletion of short arm of chromosome 5
0.000 0.988 0.012
Q93.3 Deletion of short arm of chromosome 4
0.000 0.988 0.012
Q93.2 Chromosome replaced with ring or dicentric
0.000 0.988 0.012
Q93.1 Whole chromosome monosomy, mosaicism (mitotic nondisjunction)
0.000 0.988 0.012
Q93.0 Whole chromosome monosomy, meiotic nondisjunction
0.000 0.988 0.012
Q95.9 Balanced rearrangement and structural marker, unspecified
0.000 0.988 0.012
Q95.8 Other balanced rearrangements and structural markers
0.000 0.988 0.012
Q95.5 Individuals with autosomal fragile site
0.000 0.988 0.012
Q95.4 Individuals with marker heterochromatin
0.000 0.988 0.012
Q95.3 Balanced sex/autosomal rearrangement in abnormal individual
0.000 0.988 0.012
Q95.2 Balanced autosomal rearrangement in abnormal individual
0.000 0.988 0.012
Q95.1 Chromosome inversion in normal individual
0.000 0.988 0.012
Q95.0 Balanced translocation and insertion in normal individual
0.000 0.988 0.012
Q97.9 Sex chromosome abnormality, female phenotype, unspecified
0.000 0.988 0.012
Q97.8 Other specified sex chromosome abnormalities, female phenotype
0.000 0.988 0.012
Q97.3 Female with 46,XY karyotype
0.000 0.988 0.012
Q97.2 Mosaicism, lines with various numbers of X chromosomes
0.000 0.988 0.012
Q97.1 Female with more than three X chromosomes
0.000 0.988 0.012
Q97.0 Karyotype 47,XXX
0.000 0.988 0.012
M47.94 Spondylosis, unspecified (Thoracic region)
0.000 0.988 0.012
Q39.4 Oesophageal web
0.000 0.988 0.012
M47.95 Spondylosis, unspecified (Thoracolumbar region)
0.000 0.988 0.012
Q76.5 Cervical rib
0.000 0.988 0.012
Q30.9 Congenital malformation of nose, unspecified
0.000 0.988 0.012
Q11 Anophthalmos, microphthalmos and macrophthalmos
0.000 0.988 0.012
M47.91 Spondylosis, unspecified (Occipito-atlanto-axial region)
0.000 0.988 0.012
Q79.9 Congenital malformation of musculoskeletal system, unspecified
0.000 0.988 0.012
Q79.5 Other congenital malformations of abdominal wall
0.000 0.988 0.012
Q79.4 Prune belly syndrome
0.000 0.988 0.012
Q79.3 Gastroschisis
0.000 0.988 0.012
Q79.2 Exomphalos
0.000 0.988 0.012
Q56.4 Indeterminate sex, unspecified
0.000 0.988 0.012
Q56.3 Pseudohermaphroditism, unspecified
0.000 0.988 0.012
Q56.2 Female pseudohermaphroditism, not elsewhere classified
0.000 0.988 0.012
Q56.1 Male pseudohermaphroditism, not elsewhere classified
0.000 0.988 0.012
Q56.0 Hermaphroditism, not elsewhere classified
0.000 0.988 0.012
M47.0 Anterior spinal and vertebral artery compression syndromes
0.000 0.988 0.012
Q67.8 Other congenital deformities of chest
0.000 0.988 0.012
Q67.7 Pectus carinatum
0.000 0.988 0.012
Q67.3 Plagiocephaly
0.000 0.988 0.012
Q67.2 Dolichocephaly
0.000 0.988 0.012
Q67.1 Compression facies
0.000 0.988 0.012
Q67.0 Facial asymmetry
0.000 0.988 0.012
Q80.8 Other congenital ichthyosis
0.000 0.988 0.012
Q80.4 Harlequin foetus
0.000 0.988 0.012
Q80.3 Congenital bullous ichthyosiform erythroderma
0.000 0.988 0.012
Q80.2 Lamellar ichthyosis
0.000 0.988 0.012
Q80.1 X-linked ichthyosis
0.000 0.988 0.012
Q80.0 Ichthyosis vulgaris
0.000 0.988 0.012
Q67.5 Congenital deformity of spine
0.000 0.988 0.012
Q79.1 Other congenital malformations of diaphragm
0.000 0.988 0.012
Q83.3 Accessory nipple
0.000 0.988 0.012
Q04 Other congenital malformations of brain
0.000 0.988 0.012
Q01 Encephalocele
0.000 0.988 0.012
Q00 Anencephaly and similar malformations
0.000 0.988 0.012
Q02 Microcephaly
0.000 0.988 0.012
Q44.3 Congenital stenosis and stricture of bile ducts
0.000 0.988 0.012
Q44.2 Atresia of bile ducts
0.000 0.988 0.012
Q44.1 Other congenital malformations of gallbladder
0.000 0.988 0.012
Q44.0 Agenesis, aplasia and hypoplasia of gallbladder
0.000 0.988 0.012
M47.92 Spondylosis, unspecified (Cervical region)
0.000 0.988 0.012
Q44.5 Other congenital malformations of bile ducts
0.000 0.988 0.012
M81.9 Osteoporosis, unspecified
0.012 0.988 0.000
Q74.9 Unspecified congenital malformation of limb(s)
0.000 0.988 0.012
Q74.8 Other specified congenital malformations of limb(s)
0.000 0.988 0.012
Q74.3 Arthrogryposis multiplex congenita
0.000 0.988 0.012
Q79.8 Other congenital malformations of musculoskeletal system
0.000 0.988 0.012
Q85.8 Other phakomatoses, not elsewhere classified
0.000 0.988 0.011
Q30.8 Other congenital malformations of nose
0.000 0.988 0.011
Q30.2 Fissured, notched and cleft nose
0.000 0.988 0.011
Q30.1 Agenesis and underdevelopment of nose
0.000 0.988 0.011
Q30.0 Choanal atresia
0.000 0.988 0.011
Q54.0 Hypospadias, balanic
0.000 0.988 0.011
Q68.8 Other specified congenital musculoskeletal deformities
0.000 0.988 0.011
S22.30 Fracture of rib (closed)
0.000 0.988 0.012
I05.2 Mitral stenosis with insufficiency
0.000 0.988 0.011
Q96.8 Other variants of Turner's syndrome
0.000 0.989 0.011
Q96.4 Mosaicism, 45,X/other cell line(s) with abnormal sex chromosome
0.000 0.989 0.011
Q96.3 Mosaicism, 45,X/46,XX or XY
0.000 0.989 0.011
Q96.2 Karyotype 46,X with abnormal sex chromosome, except iso (Xq)
0.000 0.989 0.011
Q96.1 Karyotype 46,X iso (Xq)
0.000 0.989 0.011
Q96.0 Karyotype 45,X
0.000 0.989 0.011
Q44.7 Other congenital malformations of liver
0.000 0.989 0.011
Q44.4 Choledochal cyst
0.000 0.989 0.011
Q38 Other congenital malformations of tongue, mouth and pharynx
0.000 0.989 0.011
Q53.0 Ectopic testis
0.000 0.989 0.011
Q12 Congenital lens malformations
0.000 0.989 0.011
Q32.4 Other congenital malformations of bronchus
0.000 0.989 0.011
Q32.3 Congenital stenosis of bronchus
0.000 0.989 0.011
Q32.2 Congenital bronchomalacia
0.000 0.989 0.011
Q32.1 Other congenital malformations of trachea
0.000 0.989 0.011
Q32.0 Congenital tracheomalacia
0.000 0.989 0.011
Q33.9 Congenital malformation of lung, unspecified
0.000 0.989 0.011
Q33.8 Other congenital malformations of lung
0.000 0.989 0.011
Q33.6 Hypoplasia and dysplasia of lung
0.000 0.989 0.011
Q33.5 Ectopic tissue in lung
0.000 0.989 0.011
Q33.4 Congenital bronchiectasis
0.000 0.989 0.011
Q33.3 Agenesis of lung
0.000 0.989 0.011
Q33.2 Sequestration of lung
0.000 0.989 0.011
Q33.1 Accessory lobe of lung
0.000 0.989 0.011
Q33.0 Congenital cystic lung
0.000 0.989 0.011
Q34.9 Congenital malformation of respiratory system, unspecified
0.000 0.989 0.011
Q34.8 Other specified congenital malformations of respiratory system
0.000 0.989 0.011
Q34.1 Congenital cyst of mediastinum
0.000 0.989 0.011
Q34.0 Anomaly of pleura
0.000 0.989 0.011
Q80.9 Congenital ichthyosis, unspecified
0.000 0.989 0.011
Q06 Other congenital malformations of spinal cord
0.000 0.989 0.011
Q66 Congenital deformities of feet
0.000 0.989 0.011
Q05.4 Unspecified spina bifida with hydrocephalus
0.000 0.989 0.011
Q68.5 Congenital bowing of long bones of leg, unspecified
0.000 0.989 0.011
Q68.4 Congenital bowing of tibia and fibula
0.000 0.989 0.011
Q68.3 Congenital bowing of femur
0.000 0.989 0.011
Q68.2 Congenital deformity of knee
0.000 0.989 0.011
Q68.1 Congenital deformity of hand
0.000 0.989 0.011
Q68.0 Congenital deformity of sternocleidomastoid muscle
0.000 0.989 0.011
M47.97 Spondylosis, unspecified (Lumbosacral region)
0.000 0.989 0.011
Q85.9 Phakomatosis, unspecified
0.000 0.989 0.011
Q79.0 Congenital diaphragmatic hernia
0.000 0.989 0.011
Q43 Other congenital malformations of intestine
0.000 0.989 0.011
Q17.5 Prominent ear
0.000 0.989 0.011
Q70.3 Webbed toes
0.000 0.989 0.011
I05 Rheumatic mitral valve diseases
0.000 0.989 0.011
Q70.9 Syndactyly, unspecified
0.000 0.989 0.011
Q70.4 Polysyndactyly
0.000 0.989 0.011
Q70.2 Fused toes
0.000 0.989 0.011
Q70.1 Webbed fingers
0.000 0.989 0.011
Q70.0 Fused fingers
0.000 0.989 0.011
Q30.3 Congenital perforated nasal septum
0.000 0.989 0.011
Q69.9 Polydactyly, unspecified
0.000 0.989 0.011
Q69.2 Accessory toe(s)
0.000 0.989 0.011
Q69.1 Accessory thumb(s)
0.000 0.989 0.011
Q69.0 Accessory finger(s)
0.000 0.989 0.011
Q71.9 Reduction defect of upper limb, unspecified
0.000 0.989 0.011
Q71.8 Other reduction defects of upper limb(s)
0.000 0.989 0.011
Q71.6 Lobster-claw hand
0.000 0.989 0.011
Q71.5 Longitudinal reduction defect of ulna
0.000 0.989 0.011
Q71.4 Longitudinal reduction defect of radius
0.000 0.989 0.011
Q71.3 Congenital absence of hand and finger(s)
0.000 0.989 0.011
Q71.2 Congenital absence of both forearm and hand
0.000 0.989 0.011
Q71.1 Congenital absence of upper arm and forearm with hand present
0.000 0.989 0.011
Q71.0 Congenital complete absence of upper limb(s)
0.000 0.989 0.011
Q72.9 Reduction defect of lower limb, unspecified
0.000 0.989 0.011
Q72.8 Other reduction defects of lower limb(s)
0.000 0.989 0.011
Q72.7 Split foot
0.000 0.989 0.011
Q72.6 Longitudinal reduction defect of fibula
0.000 0.989 0.011
Q72.5 Longitudinal reduction defect of tibia
0.000 0.989 0.011
Q72.4 Longitudinal reduction defect of femur
0.000 0.989 0.011
Q72.3 Congenital absence of foot and toe(s)
0.000 0.989 0.011
Q72.2 Congenital absence of both lower leg and foot
0.000 0.989 0.011
Q72.1 Congenital absence of thigh and lower leg with foot present
0.000 0.989 0.011
Q72.0 Congenital complete absence of lower limb(s)
0.000 0.989 0.011
Q73.8 Other reduction defects of unspecified limb(s)
0.000 0.989 0.011
Q73.1 Phocomelia, unspecified limb(s)
0.000 0.989 0.011
Q73.0 Congenital absence of unspecified limb(s)
0.000 0.989 0.011
Q77.9 Osteochondrodysplasia with defects of growth of tubular bones and spine, unspecified
0.000 0.989 0.011
Q77.8 Other osteochondrodysplasia with defects of growth of tubular bones and spine
0.000 0.989 0.011
Q77.7 Spondyloepiphyseal dysplasia
0.000 0.989 0.011
Q77.6 Chondroectodermal dysplasia
0.000 0.989 0.011
Q77.5 Diastrophic dysplasia
0.000 0.989 0.011
Q77.3 Chondrodysplasia punctata
0.000 0.989 0.011
Q77.2 Short rib syndrome
0.000 0.989 0.011
Q77.1 Thanatophoric short stature
0.000 0.989 0.011
Q77.0 Achondrogenesis
0.000 0.989 0.011
Q51 Congenital malformations of uterus and cervix
0.000 0.989 0.011
Q03 Congenital hydrocephalus
0.000 0.989 0.011
Q18 Other congenital malformations of face and neck
0.000 0.989 0.011
Q41.9 Congenital absence, atresia and stenosis of small intestine, part unspecified
0.000 0.989 0.011
Q41.8 Congenital absence, atresia and stenosis of other specified parts of small intestine
0.000 0.989 0.011
Q41.2 Congenital absence, atresia and stenosis of ileum
0.000 0.989 0.011
Q41.1 Congenital absence, atresia and stenosis of jejunum
0.000 0.989 0.011
Q41.0 Congenital absence, atresia and stenosis of duodenum
0.000 0.989 0.011
Q42.9 Congenital absence, atresia and stenosis of large intestine, part unspecified
0.000 0.989 0.011
Q42.8 Congenital absence, atresia and stenosis of other parts of large intestine
0.000 0.989 0.011
Q42.3 Congenital absence, atresia and stenosis of anus without fistula
0.000 0.989 0.011
Q42.2 Congenital absence, atresia and stenosis of anus with fistula
0.000 0.989 0.011
Q42.1 Congenital absence, atresia and stenosis of rectum without fistula
0.000 0.989 0.011
Q42.0 Congenital absence, atresia and stenosis of rectum with fistula
0.000 0.989 0.011
S52 Fracture of forearm
0.011 0.989 0.000
Q77.4 Achondroplasia
0.000 0.989 0.011
Q74.1 Congenital malformation of knee
0.000 0.989 0.011
M54.57 Low back pain (Lumbosacral region)
0.000 0.989 0.011
Q60-Q64 Congenital malformations of the urinary system
0.000 0.989 0.011
Q10.7 Congenital malformation of orbit
0.000 0.989 0.011
Q10.6 Other congenital malformations of lachrymal apparatus
0.000 0.989 0.011
Q10.5 Congenital stenosis and stricture of lachrymal duct
0.000 0.989 0.011
Q10.4 Absence and agenesis of lachrymal apparatus
0.000 0.989 0.011
Q10.3 Other congenital malformations of eyelid
0.000 0.989 0.011
Q10.2 Congenital entropion
0.000 0.989 0.011
Q10.1 Congenital ectropion
0.000 0.989 0.011
C45.0 Mesothelioma of pleura
0.000 0.989 0.011
Q53.2 Undescended testicle, bilateral
0.000 0.989 0.011

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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