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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

rs6099314
log Bayes Factor = <0.0001
Chromosome 20   position 55,454,659  (GRCh37) Explore rs6099314 on Ensembl!
Variant rs6099314 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
  
O72.1 Other immediate postpartum haemorrhage
0.000 0.965 0.035
Chapter XVII Congenital malformations, deformations and chromosomal abnormalities
0.000 0.980 0.020
Q65-Q79 Congenital malformations and deformations of the musculoskeletal system
0.000 0.981 0.019
Q20-Q28 Congenital malformations of the circulatory system
0.000 0.981 0.019
Q60-Q64 Congenital malformations of the urinary system
0.000 0.981 0.019
O72 Postpartum haemorrhage
0.000 0.982 0.018
Q50-Q56 Congenital malformations of genital organs
0.000 0.982 0.018
I21.0 Acute transmural myocardial infarction of anterior wall
0.018 0.982 0.000
Q61 Cystic kidney disease
0.000 0.982 0.018
Q65 Congenital deformities of hip
0.000 0.983 0.017
Q28 Other congenital malformations of circulatory system
0.000 0.983 0.017
Q24 Other congenital malformations of heart
0.000 0.983 0.017
Q21 Congenital malformations of cardiac septa
0.000 0.984 0.016
M25.77 Osteophyte (Ankle and foot)
0.000 0.984 0.016
Q60 Renal agenesis and other reduction defects of kidney
0.000 0.984 0.016
Q54 Hypospadias
0.000 0.984 0.016
Q66 Congenital deformities of feet
0.000 0.984 0.016
M25.7 Osteophyte
0.000 0.984 0.016
Q00-Q07 Congenital malformations of the nervous system
0.000 0.984 0.016
Q63 Other congenital malformations of kidney
0.000 0.984 0.016
Q61.3 Polycystic kidney, unspecified
0.000 0.984 0.016
Q65.8 Other congenital deformities of hip
0.000 0.984 0.016
M25.76 Osteophyte (Lower leg)
0.000 0.984 0.016
Q25 Congenital malformations of great arteries
0.000 0.985 0.015
Q76 Congenital malformations of spine and bony thorax
0.000 0.985 0.015
Q21.0 Ventricular septal defect
0.000 0.985 0.015
Q67 Congenital musculoskeletal deformities of head, face, spine and chest
0.000 0.985 0.015
Q10-Q18 Congenital malformations of eye, ear, face and neck
0.000 0.985 0.015
M25.74 Osteophyte (Hand)
0.000 0.985 0.015
Q70 Syndactyly
0.000 0.985 0.015
Q68 Other congenital musculoskeletal deformities
0.000 0.985 0.015
Q35-Q37 Cleft lip and cleft palate
0.000 0.985 0.015
Q64 Other congenital malformations of urinary system
0.000 0.985 0.015
Q61.0 Congenital single renal cyst
0.000 0.985 0.015
Q52 Other congenital malformations of female genitalia
0.000 0.985 0.015
Q54.0 Hypospadias, balanic
0.000 0.985 0.015
Q74 Other congenital malformations of limb(s)
0.000 0.986 0.014
Q23 Congenital malformations of aortic and mitral valves
0.000 0.986 0.014
Q63.2 Ectopic kidney
0.000 0.986 0.014
O72.2 Delayed and secondary postpartum haemorrhage
0.000 0.986 0.014
Q79 Congenital malformations of musculoskeletal system, not elsewhere classified
0.000 0.986 0.014
Q61.4 Renal dysplasia
0.000 0.986 0.014
Q73 Reduction defects of unspecified limb
0.000 0.986 0.014
Q72 Reduction defects of lower limb
0.000 0.986 0.014
Q71 Reduction defects of upper limb
0.000 0.986 0.014
Q69 Polydactyly
0.000 0.986 0.014
Q90-Q99 Chromosomal abnormalities, not elsewhere classified
0.000 0.986 0.014
Q20 Congenital malformations of cardiac chambers and connexions
0.000 0.986 0.014
Q53 Undescended testicle
0.000 0.986 0.014
Q77 Osteochondrodysplasia with defects of growth of tubular bones and spine
0.000 0.986 0.014
Q75 Other congenital malformations of skull and face bones
0.000 0.986 0.014
Q78 Other osteochondrodysplasias
0.000 0.986 0.014
Q24.0 Dextrocardia
0.000 0.986 0.014
Q60.0 Renal agenesis, unilateral
0.000 0.986 0.014
Q28.3 Other malformations of cerebral vessels
0.000 0.986 0.013
Q24.5 Malformation of coronary vessels
0.000 0.986 0.013
Q28.0 Arteriovenous malformation of precerebral vessels
0.000 0.986 0.013
O72.0 Third-stage haemorrhage
0.000 0.986 0.013
Q65.2 Congenital dislocation of hip, unspecified
0.000 0.986 0.013
Q61.2 Polycystic kidney, adult type
0.000 0.986 0.013
Q66.3 Other congenital varus deformities of feet
0.000 0.986 0.013
Q30-Q34 Congenital malformations of the respiratory system
0.000 0.986 0.013
M25.72 Osteophyte (Upper arm)
0.000 0.987 0.013
Q26 Congenital malformations of great veins
0.000 0.987 0.013
O72.3 Postpartum coagulation defects
0.000 0.987 0.013
Q22 Congenital malformations of pulmonary and tricuspid valves
0.000 0.987 0.013
Q50 Congenital malformations of ovaries, Fallopian tubes and broad ligaments
0.000 0.987 0.013
Q54.9 Hypospadias, unspecified
0.000 0.987 0.013
Q76.4 Other congenital malformations of spine, not associated with scoliosis
0.000 0.987 0.013
Q28.2 Arteriovenous malformation of cerebral vessels
0.000 0.987 0.013
Q56 Indeterminate sex and pseudohermaphroditism
0.000 0.987 0.013
M25.78 Osteophyte (Other)
0.000 0.987 0.013
Q18 Other congenital malformations of face and neck
0.000 0.987 0.013
Q65.9 Congenital deformity of hip, unspecified
0.000 0.987 0.013
Q24.8 Other specified congenital malformations of heart
0.000 0.987 0.013
Q25.1 Coarctation of aorta
0.000 0.987 0.013
Q61.8 Other cystic kidney diseases
0.000 0.987 0.013
Q61.1 Polycystic kidney, infantile type
0.000 0.987 0.013
Q52.1 Doubling of vagina
0.000 0.987 0.013
Q38-Q45 Other congenital malformations of the digestive system
0.000 0.987 0.013
Q27 Other congenital malformations of peripheral vascular system
0.000 0.987 0.013
Q65.6 Unstable hip
0.000 0.987 0.013
Q65.5 Congenital subluxation of hip, unspecified
0.000 0.987 0.013
Q65.4 Congenital subluxation of hip, bilateral
0.000 0.987 0.013
Q65.3 Congenital subluxation of hip, unilateral
0.000 0.987 0.013
Q65.0 Congenital dislocation of hip, unilateral
0.000 0.987 0.013
Q25.0 Patent ductus arteriosus
0.000 0.987 0.013
Q06 Other congenital malformations of spinal cord
0.000 0.987 0.012
Q05 Spina bifida
0.000 0.987 0.012
Q60.2 Renal agenesis, unspecified
0.000 0.987 0.012
Q21.8 Other congenital malformations of cardiac septa
0.000 0.987 0.012
Q66.0 Talipes equinovarus
0.000 0.987 0.012
Q07 Other congenital malformations of nervous system
0.000 0.988 0.012
Q28.9 Congenital malformation of circulatory system, unspecified
0.000 0.988 0.012
Q28.8 Other specified congenital malformations of circulatory system
0.000 0.988 0.012
Q28.1 Other malformations of precerebral vessels
0.000 0.988 0.012
Q65.1 Congenital dislocation of hip, bilateral
0.000 0.988 0.012
Q24.4 Congenital subaortic stenosis
0.000 0.988 0.012
Q21.3 Tetralogy of Fallot
0.000 0.988 0.012
Q24.3 Pulmonary infundibular stenosis
0.000 0.988 0.012
Q24.2 Cor triatriatum
0.000 0.988 0.012
Q24.1 Levocardia
0.000 0.988 0.012
Q21.4 Aortopulmonary septal defect
0.000 0.988 0.012
Q21.2 Atrioventricular septal defect
0.000 0.988 0.012
Q54.1 Hypospadias, penile
0.000 0.988 0.012
Q23.1 Congenital insufficiency of aortic valve
0.000 0.988 0.012
Q66.9 Congenital deformity of feet, unspecified
0.000 0.988 0.012
Q60.3 Renal hypoplasia, unilateral
0.000 0.988 0.012
Q63.8 Other specified congenital malformations of kidney
0.000 0.988 0.012
Q24.9 Congenital malformation of the heart, unspecified
0.000 0.988 0.012
Q67.4 Other congenital deformities of skull, face and jaw
0.000 0.988 0.012
M25.71 Osteophyte (Shoulder region)
0.000 0.988 0.012
Q03 Congenital hydrocephalus
0.000 0.988 0.012
Q60.6 Potter's syndrome
0.000 0.988 0.012
Q60.5 Renal hypoplasia, unspecified
0.000 0.988 0.012
Q60.4 Renal hypoplasia, bilateral
0.000 0.988 0.012
Q60.1 Renal agenesis, bilateral
0.000 0.988 0.012
Q74.0 Other congenital malformations of upper limb(s), including shoulder girdle
0.000 0.988 0.012
Q37 Cleft palate with cleft lip
0.000 0.988 0.012
Q55 Other congenital malformations of male genital organs
0.000 0.988 0.012
Q70.3 Webbed toes
0.000 0.988 0.012
Q54.4 Congenital chordee
0.000 0.988 0.012
Q54.3 Hypospadias, perineal
0.000 0.988 0.012
Q54.2 Hypospadias, penoscrotal
0.000 0.988 0.012
Q68.8 Other specified congenital musculoskeletal deformities
0.000 0.988 0.012
Q66.6 Other congenital valgus deformities of feet
0.000 0.988 0.012
Q67.6 Pectus excavatum
0.000 0.988 0.012
Q64.3 Other atresia and stenosis of urethra and bladder neck
0.000 0.988 0.012
Q66.2 Metatarsus varus
0.000 0.988 0.012
Q66.5 Congenital pes planus
0.000 0.988 0.012
Q66.4 Talipes calcaneovalgus
0.000 0.988 0.012
Q66.1 Talipes calcaneovarus
0.000 0.988 0.012
M25.70 Osteophyte (Multiple sites)
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
Q63.3 Hyperplastic and giant kidney
0.000 0.988 0.012
Q66.7 Pes cavus
0.000 0.988 0.011
Q25.7 Other congenital malformations of pulmonary artery
0.000 0.988 0.011
Q17 Other congenital malformations of ear
0.000 0.988 0.011
Q18.0 Sinus, fistula and cyst of branchial cleft
0.000 0.988 0.011
Q76.1 Klippel-Feil syndrome
0.000 0.988 0.011
Q61.9 Cystic kidney disease, unspecified
0.000 0.988 0.011
Q63.1 Lobulated, fused and horseshoe kidney
0.000 0.989 0.011
Q10 Congenital malformations of eyelid, lachrymal apparatus and orbit
0.000 0.989 0.011
Q24.6 Congenital heart block
0.000 0.989 0.011
Q25.6 Stenosis of pulmonary artery
0.000 0.989 0.011
Q51 Congenital malformations of uterus and cervix
0.000 0.989 0.011
Q14 Congenital malformations of posterior segment of eye
0.000 0.989 0.011
Q25.9 Congenital malformation of great arteries, unspecified
0.000 0.989 0.011
Q25.8 Other congenital malformations of great arteries
0.000 0.989 0.011
Q25.5 Atresia of pulmonary artery
0.000 0.989 0.011
Q25.2 Atresia of aorta
0.000 0.989 0.011
Q64.4 Malformation of urachus
0.000 0.989 0.011
Q76.9 Congenital malformation of bony thorax, unspecified
0.000 0.989 0.011
Q76.8 Other congenital malformations of bony thorax
0.000 0.989 0.011
Q76.7 Congenital malformation of sternum
0.000 0.989 0.011
Q76.6 Other congenital malformations of ribs
0.000 0.989 0.011
Q76.3 Congenital scoliosis due to congenital bony malformation
0.000 0.989 0.011
Q76.2 Congenital spondylolisthesis
0.000 0.989 0.011
Q52.5 Fusion of labia
0.000 0.989 0.011
Q53.2 Undescended testicle, bilateral
0.000 0.989 0.011
Q67.8 Other congenital deformities of chest
0.000 0.989 0.011
Q67.7 Pectus carinatum
0.000 0.989 0.011
Q67.3 Plagiocephaly
0.000 0.989 0.011
Q67.2 Dolichocephaly
0.000 0.989 0.011
Q67.1 Compression facies
0.000 0.989 0.011
Q67.0 Facial asymmetry
0.000 0.989 0.011
Q62 Congenital obstructive defects of renal pelvis and congenital malformations of ureter
0.000 0.989 0.011
Q13 Congenital malformations of anterior segment of eye
0.000 0.989 0.011
Q61.5 Medullary cystic kidney
0.000 0.989 0.011
Q21.1 Atrial septal defect
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
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
Q63.0 Accessory kidney
0.000 0.989 0.011
Q36 Cleft lip
0.000 0.989 0.011
Q67.5 Congenital deformity of spine
0.000 0.989 0.011
Q96 Turner's syndrome
0.000 0.989 0.011
Q16 Congenital malformations of ear causing impairment of hearing
0.000 0.989 0.011
Q11 Anophthalmos, microphthalmos and macrophthalmos
0.000 0.989 0.011
Q64.9 Congenital malformation of urinary system, unspecified
0.000 0.989 0.011
Q64.8 Other specified congenital malformations of urinary system
0.000 0.989 0.011
Q64.6 Congenital diverticulum of bladder
0.000 0.989 0.011
Q64.5 Congenital absence of bladder and urethra
0.000 0.989 0.011
Q64.2 Congenital posterior urethral valves
0.000 0.989 0.011
Q64.1 Exstrophy of urinary bladder
0.000 0.989 0.011
Q64.0 Epispadias
0.000 0.989 0.011
Q79.0 Congenital diaphragmatic hernia
0.000 0.989 0.011
Q52.9 Congenital malformation of female genitalia, unspecified
0.000 0.989 0.011
Q52.7 Other congenital malformations of vulva
0.000 0.989 0.011
Q52.6 Congenital malformation of clitoris
0.000 0.989 0.011
Q52.3 Imperforate hymen
0.000 0.989 0.011
Q52.2 Congenital rectovaginal fistula
0.000 0.989 0.011
Q52.0 Congenital absence of vagina
0.000 0.989 0.011
Q90 Down's syndrome
0.000 0.989 0.011
Q76.0 Spina bifida occulta
0.000 0.989 0.011
Q21.9 Congenital malformation of cardiac septum, unspecified
0.000 0.989 0.011
Q50.5 Embryonic cyst of broad ligament
0.000 0.989 0.011
Q54.8 Other hypospadias
0.000 0.989 0.011
Q63.9 Congenital malformation of kidney, unspecified
0.000 0.989 0.010
Q74.1 Congenital malformation of knee
0.000 0.989 0.010
Q74.9 Unspecified congenital malformation of limb(s)
0.000 0.989 0.010
Q74.8 Other specified congenital malformations of limb(s)
0.000 0.989 0.010
Q74.3 Arthrogryposis multiplex congenita
0.000 0.989 0.010
Q35 Cleft palate
0.000 0.989 0.010
Q23.9 Congenital malformation of aortic and mitral valves, unspecified
0.000 0.989 0.010
Q23.8 Other congenital malformations of aortic and mitral valves
0.000 0.989 0.010
Q23.4 Hypoplastic left heart syndrome
0.000 0.989 0.010
Q23.2 Congenital mitral stenosis
0.000 0.989 0.010
Q15 Other congenital malformations of eye
0.000 0.989 0.010
Q52.8 Other specified congenital malformations of female genitalia
0.000 0.989 0.010
Q53.1 Undescended testicle, unilateral
0.000 0.989 0.010
Q04 Other congenital malformations of brain
0.000 0.989 0.010
M67.8 Other specified disorders of synovium and tendon
0.011 0.989 0.000
Q79.1 Other congenital malformations of diaphragm
0.000 0.989 0.010
Q66.8 Other congenital deformities of feet
0.000 0.989 0.010
M25.73 Osteophyte (Forearm)
0.000 0.989 0.010
Q44 Congenital malformations of gallbladder, bile ducts and liver
0.000 0.989 0.010
Q79.9 Congenital malformation of musculoskeletal system, unspecified
0.000 0.989 0.010
Q79.5 Other congenital malformations of abdominal wall
0.000 0.989 0.010
Q79.4 Prune belly syndrome
0.000 0.989 0.010
Q79.3 Gastroschisis
0.000 0.989 0.010
Q79.2 Exomphalos
0.000 0.989 0.010
Q76.5 Cervical rib
0.000 0.990 0.010
Q69.9 Polydactyly, unspecified
0.000 0.990 0.010
Q69.2 Accessory toe(s)
0.000 0.990 0.010
Q69.1 Accessory thumb(s)
0.000 0.990 0.010
Q69.0 Accessory finger(s)
0.000 0.990 0.010
Q71.9 Reduction defect of upper limb, unspecified
0.000 0.990 0.010
Q71.8 Other reduction defects of upper limb(s)
0.000 0.990 0.010
Q71.6 Lobster-claw hand
0.000 0.990 0.010
Q71.5 Longitudinal reduction defect of ulna
0.000 0.990 0.010
Q71.4 Longitudinal reduction defect of radius
0.000 0.990 0.010
Q71.3 Congenital absence of hand and finger(s)
0.000 0.990 0.010
Q71.2 Congenital absence of both forearm and hand
0.000 0.990 0.010
Q71.1 Congenital absence of upper arm and forearm with hand present
0.000 0.990 0.010
Q71.0 Congenital complete absence of upper limb(s)
0.000 0.990 0.010
Q72.9 Reduction defect of lower limb, unspecified
0.000 0.990 0.010
Q72.8 Other reduction defects of lower limb(s)
0.000 0.990 0.010
Q72.7 Split foot
0.000 0.990 0.010
Q72.6 Longitudinal reduction defect of fibula
0.000 0.990 0.010
Q72.5 Longitudinal reduction defect of tibia
0.000 0.990 0.010
Q72.4 Longitudinal reduction defect of femur
0.000 0.990 0.010
Q72.3 Congenital absence of foot and toe(s)
0.000 0.990 0.010
Q72.2 Congenital absence of both lower leg and foot
0.000 0.990 0.010
Q72.1 Congenital absence of thigh and lower leg with foot present
0.000 0.990 0.010
Q72.0 Congenital complete absence of lower limb(s)
0.000 0.990 0.010
Q73.8 Other reduction defects of unspecified limb(s)
0.000 0.990 0.010
Q73.1 Phocomelia, unspecified limb(s)
0.000 0.990 0.010
Q73.0 Congenital absence of unspecified limb(s)
0.000 0.990 0.010
Q97 Other sex chromosome abnormalities, female phenotype, not elsewhere classified
0.000 0.990 0.010
Q95 Balanced rearrangements and structural markers, not elsewhere classified
0.000 0.990 0.010
Q93 Monosomies and deletions from the autosomes, not elsewhere classified
0.000 0.990 0.010
Q92 Other trisomies and partial trisomies of the autosomes, not elsewhere classified
0.000 0.990 0.010
Q91 Edwards' syndrome and Patau's syndrome
0.000 0.990 0.010
Q64.7 Other congenital malformations of bladder and urethra
0.000 0.990 0.010
Q23.3 Congenital mitral insufficiency
0.000 0.990 0.010
Q20.9 Congenital malformation of cardiac chambers and connexions, unspecified
0.000 0.990 0.010
Q20.8 Other congenital malformations of cardiac chambers and connexions
0.000 0.990 0.010
Q20.6 Isomerism of atrial appendages
0.000 0.990 0.010
Q20.5 Discordant atrioventricular connexion
0.000 0.990 0.010
Q20.4 Double inlet ventricle
0.000 0.990 0.010
Q20.3 Discordant ventriculoarterial connexion
0.000 0.990 0.010
Q20.2 Double outlet left ventricle
0.000 0.990 0.010
Q20.1 Double outlet right ventricle
0.000 0.990 0.010
Q20.0 Common arterial trunk
0.000 0.990 0.010
Q53.0 Ectopic testis
0.000 0.990 0.010
Q05.9 Spina bifida, unspecified
0.000 0.990 0.010
Q52.4 Other congenital malformations of vagina
0.000 0.990 0.010
Q79.8 Other congenital malformations of musculoskeletal system
0.000 0.990 0.010
Q75.9 Congenital malformation of skull and face bones, unspecified
0.000 0.990 0.010
Q75.8 Other specified congenital malformations of skull and face bones
0.000 0.990 0.010
Q75.5 Oculomandibular dysostosis
0.000 0.990 0.010
Q75.3 Macrocephaly
0.000 0.990 0.010
Q75.2 Hypertelorism
0.000 0.990 0.010
Q75.1 Craniofacial dysostosis
0.000 0.990 0.010
Q75.0 Craniosynostosis
0.000 0.990 0.010
Q77.9 Osteochondrodysplasia with defects of growth of tubular bones and spine, unspecified
0.000 0.990 0.010
Q77.8 Other osteochondrodysplasia with defects of growth of tubular bones and spine
0.000 0.990 0.010
Q77.7 Spondyloepiphyseal dysplasia
0.000 0.990 0.010
Q77.6 Chondroectodermal dysplasia
0.000 0.990 0.010
Q77.5 Diastrophic dysplasia
0.000 0.990 0.010
Q77.3 Chondrodysplasia punctata
0.000 0.990 0.010
Q77.2 Short rib syndrome
0.000 0.990 0.010
Q77.1 Thanatophoric short stature
0.000 0.990 0.010
Q77.0 Achondrogenesis
0.000 0.990 0.010
Q79.6 Ehlers-Danlos syndrome
0.000 0.990 0.010
Q80-Q89 Other congenital malformations
0.000 0.990 0.010
Q25.4 Other congenital malformations of aorta
0.000 0.990 0.010
Q06.2 Diastematomyelia
0.000 0.990 0.010
Q99 Other chromosome abnormalities, not elsewhere classified
0.000 0.990 0.010
M25.79 Osteophyte (Site unspecified)
0.000 0.990 0.010
Q53.9 Undescended testicle, unspecified
0.000 0.990 0.010
Q78.9 Osteochondrodysplasia, unspecified
0.000 0.990 0.010
Q78.8 Other specified osteochondrodysplasias
0.000 0.990 0.010
Q78.6 Multiple congenital exostoses
0.000 0.990 0.010
Q78.5 Metaphyseal dysplasia
0.000 0.990 0.010
Q78.4 Enchondromatosis
0.000 0.990 0.010
Q78.3 Progressive diaphyseal dysplasia
0.000 0.990 0.010
Q78.1 Polyostotic fibrous dysplasia
0.000 0.990 0.010
Q75.4 Mandibulofacial dysostosis
0.000 0.990 0.010
Q77.4 Achondroplasia
0.000 0.990 0.010
M25.75 Osteophyte (Pelvic region and thigh)
0.000 0.990 0.010
Q25.3 Stenosis of aorta
0.000 0.990 0.010
Q78.0 Osteogenesis imperfecta
0.000 0.990 0.010
Q34 Other congenital malformations of respiratory system
0.000 0.990 0.010
Q33 Congenital malformations of lung
0.000 0.990 0.010
Q32 Congenital malformations of trachea and bronchus
0.000 0.990 0.010
Q31 Congenital malformations of larynx
0.000 0.990 0.010
Q26.9 Congenital malformation of great vein, unspecified
0.000 0.990 0.010
Q26.8 Other congenital malformations of great veins
0.000 0.990 0.010
Q26.6 Portal vein-hepatic artery fistula
0.000 0.990 0.010
Q26.5 Anomalous portal venous connexion
0.000 0.990 0.010
Q26.3 Partial anomalous pulmonary venous connexion
0.000 0.990 0.010
Q26.2 Total anomalous pulmonary venous connexion
0.000 0.990 0.010
Q26.1 Persistent left superior vena cava
0.000 0.990 0.010
Q26.0 Congenital stenosis of vena cava
0.000 0.990 0.010
Q22.9 Congenital malformation of tricuspid valve, unspecified
0.000 0.990 0.010
Q22.8 Other congenital malformations of tricuspid valve
0.000 0.990 0.010
Q22.6 Hypoplastic right heart syndrome
0.000 0.990 0.010
Q22.4 Congenital tricuspid stenosis
0.000 0.990 0.010
Q22.3 Other congenital malformations of pulmonary valve
0.000 0.990 0.010
Q22.2 Congenital pulmonary valve insufficiency
0.000 0.990 0.010
Q22.0 Pulmonary valve atresia
0.000 0.990 0.010
Q50.6 Other congenital malformatons of Fallopian tube and broad ligament
0.000 0.990 0.010
Q50.3 Other congenital malformations of ovary
0.000 0.990 0.010
Q50.2 Congenital torsion of ovary
0.000 0.990 0.010
Q50.1 Developmental ovarian cyst
0.000 0.990 0.010
Q78.2 Osteopetrosis
0.000 0.990 0.009
Q37.9 Unspecified cleft palate with unilateral cleft lip
0.000 0.990 0.009
Q56.4 Indeterminate sex, unspecified
0.000 0.990 0.009
Q56.3 Pseudohermaphroditism, unspecified
0.000 0.990 0.009
Q56.2 Female pseudohermaphroditism, not elsewhere classified
0.000 0.990 0.009
Q56.1 Male pseudohermaphroditism, not elsewhere classified
0.000 0.990 0.009
Q56.0 Hermaphroditism, not elsewhere classified
0.000 0.990 0.009
Q18.9 Congenital malformation of face and neck, unspecified
0.000 0.990 0.009
Q18.8 Other specified congenital malformations of face and neck
0.000 0.990 0.009
Q18.7 Microcheilia
0.000 0.990 0.009
Q18.6 Macrocheilia
0.000 0.990 0.009
Q18.5 Microstomia
0.000 0.990 0.009
Q18.4 Macrostomia
0.000 0.990 0.009
Q18.3 Webbing of neck
0.000 0.990 0.009
Q18.2 Other branchial cleft malformations
0.000 0.990 0.009
Q44.6 Cystic disease of liver
0.000 0.990 0.009
Q50.0 Congenital absence of ovary
0.000 0.990 0.009
Q43 Other congenital malformations of intestine
0.000 0.990 0.009
Q07.0 Arnold-Chiari syndrome
0.000 0.991 0.009
Q23.0 Congenital stenosis of aortic valve
0.000 0.991 0.009
Q98 Other sex chromosome abnormalities, male phenotype, not elsewhere classified
0.000 0.991 0.009
Q22.5 Ebstein's anomaly
0.000 0.991 0.009
Q40 Other congenital malformations of upper alimentary tract
0.000 0.991 0.009
Q39 Congenital malformations of oesophagus
0.000 0.991 0.009
Q27.4 Congenital phlebectasia
0.000 0.991 0.009
Q27.2 Other congenital malformations of renal artery
0.000 0.991 0.009
Q27.0 Congenital absence and hypoplasia of umbilical artery
0.000 0.991 0.009
Q42 Congenital absence, atresia and stenosis of large intestine
0.000 0.991 0.009
Q41 Congenital absence, atresia and stenosis of small intestine
0.000 0.991 0.009
Q06.8 Other specified congenital malformations of spinal cord
0.000 0.991 0.009
Q22.1 Congenital pulmonary valve stenosis
0.000 0.991 0.009
Q07.8 Other specified congenital malformations of nervous system
0.000 0.991 0.009
Q18.1 Preauricular sinus and cyst
0.000 0.991 0.009
Q27.3 Peripheral arteriovenous malformation
0.000 0.991 0.009
Q05.8 Sacral spina bifida without hydrocephalus
0.000 0.991 0.009
Q05.6 Thoracic spina bifida without hydrocephalus
0.000 0.991 0.009
Q05.5 Cervical spina bifida without hydrocephalus
0.000 0.991 0.009
Q05.3 Sacral spina bifida with hydrocephalus
0.000 0.991 0.009
Q05.2 Lumbar spina bifida with hydrocephalus
0.000 0.991 0.009
Q05.1 Thoracic spina bifida with hydrocephalus
0.000 0.991 0.009
Q05.0 Cervical spina bifida with hydrocephalus
0.000 0.991 0.009
Q06.9 Congenital malformation of spinal cord, unspecified
0.000 0.991 0.009
Q06.4 Hydromyelia
0.000 0.991 0.009
Q06.3 Other congenital cauda equina malformations
0.000 0.991 0.009
Q06.1 Hypoplasia and dysplasia of spinal cord
0.000 0.991 0.009
Q06.0 Amyelia
0.000 0.991 0.009
Q74.2 Other congenital malformations of lower limb(s), including pelvic girdle
0.000 0.991 0.009
Q12 Congenital lens malformations
0.000 0.991 0.009
Q05.4 Unspecified spina bifida with hydrocephalus
0.000 0.991 0.009
Q27.8 Other specified congenital malformations of peripheral vascular system
0.000 0.991 0.009
Q05.7 Lumbar spina bifida without hydrocephalus
0.000 0.991 0.009
Q30 Congenital malformations of nose
0.000 0.991 0.009
Q26.4 Anomalous pulmonary venous connexion, unspecified
0.000 0.991 0.009
Q07.9 Congenital malformation of nervous system, unspecified
0.000 0.991 0.009
Q51.2 Other doubling of uterus
0.000 0.991 0.009
Q17.5 Prominent ear
0.000 0.991 0.009
Q03.0 Malformations of aqueduct of Sylvius
0.000 0.991 0.009
Q27.9 Congenital malformation of peripheral vascular system, unspecified
0.000 0.991 0.009
Q50.4 Embryonic cyst of Fallopian tube
0.000 0.991 0.009
E10 Insulin-dependent diabetes mellitus
0.009 0.991 0.000
Q03.9 Congenital hydrocephalus, unspecified
0.000 0.991 0.009
Q03.8 Other congenital hydrocephalus
0.000 0.991 0.009
Q03.1 Atresia of foramina of Magendie and Luschka
0.000 0.991 0.009
Q27.1 Congenital renal artery stenosis
0.000 0.991 0.009
Q55.0 Absence and aplasia of testis
0.000 0.991 0.009
Q37.8 Unspecified cleft palate with bilateral cleft lip
0.000 0.991 0.009
Q37.5 Cleft hard and soft palate with unilateral cleft lip
0.000 0.991 0.009
Q37.4 Cleft hard and soft palate with bilateral cleft lip
0.000 0.991 0.009
Q37.3 Cleft soft palate with unilateral cleft lip
0.000 0.991 0.009
Q37.2 Cleft soft palate with bilateral cleft lip
0.000 0.991 0.009
Q37.1 Cleft hard palate with unilateral cleft lip
0.000 0.991 0.009
Q37.0 Cleft hard palate with bilateral cleft lip
0.000 0.991 0.009
Q55.9 Congenital malformation of male genital organ, unspecified
0.000 0.991 0.009
Q55.8 Other specified congenital malformations of male genital organs
0.000 0.991 0.009
Q55.5 Congenital absence and aplasia of penis
0.000 0.991 0.009
Q55.3 Atresia of vas deferens
0.000 0.991 0.009
Q55.1 Hypoplasia of testis and scrotum
0.000 0.991 0.009
Q55.4 Other congenital malformations of vas deferens, epididymis, seminal vesicles and prostate
0.000 0.991 0.008
Q10.0 Congenital ptosis
0.000 0.991 0.008
Q96.9 Turner's syndrome, unspecified
0.000 0.991 0.008
Q00.2 Iniencephaly
0.000 0.991 0.008
Q00.1 Craniorachischisis
0.000 0.991 0.008
Q00.0 Anencephaly
0.000 0.991 0.008
Q01.9 Encephalocele, unspecified
0.000 0.991 0.008
Q01.8 Encephalocele of other sites
0.000 0.991 0.008
Q01.2 Occipital encephalocele
0.000 0.991 0.008
Q01.1 Nasofrontal encephalocele
0.000 0.991 0.008
Q01.0 Frontal encephalocele
0.000 0.991 0.008
Q45 Other congenital malformations of digestive system
0.000 0.991 0.008
Q55.6 Other congenital malformations of penis
0.000 0.991 0.008
Q14.1 Congenital malformation of retina
0.000 0.991 0.008
Q17.9 Congenital malformation of ear, unspecified
0.000 0.991 0.008
Q17.8 Other specified congenital malformations of ear
0.000 0.991 0.008
Q17.4 Misplaced ear
0.000 0.991 0.008
Q17.3 Other misshapen ear
0.000 0.991 0.008
Q17.2 Microtia
0.000 0.991 0.008
Q17.1 Macrotia
0.000 0.991 0.008
Q17.0 Accessory auricle
0.000 0.991 0.008
Q10.7 Congenital malformation of orbit
0.000 0.992 0.008
Q10.6 Other congenital malformations of lachrymal apparatus
0.000 0.992 0.008
Q10.5 Congenital stenosis and stricture of lachrymal duct
0.000 0.992 0.008
Q10.4 Absence and agenesis of lachrymal apparatus
0.000 0.992 0.008
Q10.3 Other congenital malformations of eyelid
0.000 0.992 0.008
Q10.2 Congenital entropion
0.000 0.992 0.008
Q10.1 Congenital ectropion
0.000 0.992 0.008
Q90.9 Down's syndrome, unspecified
0.000 0.992 0.008
E10.1 With ketoacidosis
0.008 0.992 0.000
Q51.9 Congenital malformation of uterus and cervix, unspecified
0.000 0.992 0.008
Q51.7 Congenital fistulae between uterus and digestive and urinary tracts
0.000 0.992 0.008
Q51.6 Embryonic cyst of cervix
0.000 0.992 0.008
Q51.5 Agenesis and aplasia of cervix
0.000 0.992 0.008
Q51.0 Agenesis and aplasia of uterus
0.000 0.992 0.008
Q14.9 Congenital malformation of posterior segment of eye, unspecified
0.000 0.992 0.008
Q14.8 Other congenital malformations of posterior segment of eye
0.000 0.992 0.008
Q14.3 Congenital malformation of choroid
0.000 0.992 0.008
Q14.2 Congenital malformation of optic disk
0.000 0.992 0.008
Q14.0 Congenital malformation of vitreous humour
0.000 0.992 0.008
Q13.9 Congenital malformation of anterior segment of eye, unspecified
0.000 0.992 0.008
Q13.8 Other congenital malformations of anterior segment of eye
0.000 0.992 0.008
Q13.5 Blue sclera
0.000 0.992 0.008
Q13.4 Other congenital corneal malformations
0.000 0.992 0.008
Q13.3 Congenital corneal opacity
0.000 0.992 0.008
Q13.2 Other congenital malformations of iris
0.000 0.992 0.008
Q13.1 Absence of iris
0.000 0.992 0.008
Q13.0 Coloboma of iris
0.000 0.992 0.008
Q62.7 Congenital vesico-uretero-renal reflux
0.000 0.992 0.008
Q62.6 Malposition of ureter
0.000 0.992 0.008
Q62.4 Agenesis of ureter
0.000 0.992 0.008
Q62.0 Congenital hydronephrosis
0.000 0.992 0.008
Q62.2 Congenital megaloureter
0.000 0.992 0.008
Q62.1 Atresia and stenosis of ureter
0.000 0.992 0.008
Q36.9 Cleft lip, unilateral
0.000 0.992 0.008
Q36.1 Cleft lip, medial
0.000 0.992 0.008
Q36.0 Cleft lip, bilateral
0.000 0.992 0.008
Q40.1 Congenital hiatus hernia
0.000 0.992 0.008
Q51.8 Other congenital malformations of uterus and cervix
0.000 0.992 0.008
Q83 Congenital malformations of breast
0.000 0.992 0.008
Q96.8 Other variants of Turner's syndrome
0.000 0.992 0.008
Q96.4 Mosaicism, 45,X/other cell line(s) with abnormal sex chromosome
0.000 0.992 0.008
Q96.3 Mosaicism, 45,X/46,XX or XY
0.000 0.992 0.008
Q96.2 Karyotype 46,X with abnormal sex chromosome, except iso (Xq)
0.000 0.992 0.008
Q96.1 Karyotype 46,X iso (Xq)
0.000 0.992 0.008
Q96.0 Karyotype 45,X
0.000 0.992 0.008
Q11.3 Macrophthalmos
0.000 0.992 0.008
Q11.2 Microphthalmos
0.000 0.992 0.008
Q11.0 Cystic eyeball
0.000 0.992 0.008
Q16.5 Congenital malformation of inner ear
0.000 0.992 0.008
Q16.4 Other congenital malformations of middle ear
0.000 0.992 0.008
Q16.3 Congenital malformation of ear ossicles
0.000 0.992 0.008
Q16.2 Absence of eustachian tube
0.000 0.992 0.008
Q16.1 Congenital absence, atresia and stricture of auditory canal (external)
0.000 0.992 0.008
Q16.0 Congenital absence of (ear) auricle
0.000 0.992 0.008
Q62.8 Other congenital malformations of ureter
0.000 0.992 0.008
E10.0 With coma
0.008 0.992 0.000
Q90.2 Trisomy 21, translocation
0.000 0.992 0.008
Q90.1 Trisomy 21, mosaicism (mitotic nondisjunction)
0.000 0.992 0.008
Q90.0 Trisomy 21, meiotic nondisjunction
0.000 0.992 0.008
Q11.1 Other anophthalmos
0.000 0.992 0.008
Q16.9 Congenital malformation of ear causing impairment of hearing, unspecified
0.000 0.992 0.008
E10.3 With ophthalmic complications
0.008 0.992 0.000
Q43.0 Meckel's diverticulum
0.000 0.992 0.008
Q35.8 (Cleft palate, unspecified, bilateral)
0.000 0.992 0.008
Q35.7 Cleft uvula
0.000 0.992 0.008

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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