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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

rs2758886
log Bayes Factor = 0.174058
Chromosome 6   position 39,250,837  (GRCh37) Explore rs2758886 on Ensembl!
Variant rs2758886 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
  
Chapter XVII Congenital malformations, deformations and chromosomal abnormalities
0.372 0.628 0.000
Q80-Q89 Other congenital malformations
0.367 0.633 0.000
Q20-Q28 Congenital malformations of the circulatory system
0.354 0.646 0.000
Q89 Other congenital malformations, not elsewhere classified
0.353 0.647 0.000
Q50-Q56 Congenital malformations of genital organs
0.345 0.655 0.000
Q89.2 Congenital malformations of other endocrine glands
0.341 0.659 0.000
Q60-Q64 Congenital malformations of the urinary system
0.321 0.678 0.000
Q25 Congenital malformations of great arteries
0.318 0.682 0.000
Q65-Q79 Congenital malformations and deformations of the musculoskeletal system
0.313 0.687 0.000
Q90-Q99 Chromosomal abnormalities, not elsewhere classified
0.307 0.693 0.000
Q00-Q07 Congenital malformations of the nervous system
0.305 0.695 0.000
Q85 Phakomatoses, not elsewhere classified
0.305 0.695 0.000
Q83 Congenital malformations of breast
0.301 0.699 0.000
Q27 Other congenital malformations of peripheral vascular system
0.299 0.701 0.000
Q24 Other congenital malformations of heart
0.293 0.707 0.000
Q53 Undescended testicle
0.292 0.708 0.000
Q10-Q18 Congenital malformations of eye, ear, face and neck
0.289 0.711 0.000
Q87 Other specified congenital malformation syndromes affecting multiple systems
0.283 0.717 0.000
Q50 Congenital malformations of ovaries, Fallopian tubes and broad ligaments
0.280 0.719 0.000
Q61 Cystic kidney disease
0.278 0.722 0.000
Q25.4 Other congenital malformations of aorta
0.276 0.724 0.000
Q38-Q45 Other congenital malformations of the digestive system
0.275 0.725 0.000
Q21 Congenital malformations of cardiac septa
0.274 0.726 0.000
Q60 Renal agenesis and other reduction defects of kidney
0.274 0.726 0.000
Q52 Other congenital malformations of female genitalia
0.269 0.731 0.000
Q85.0 Neurofibromatosis (nonmalignant)
0.269 0.731 0.000
Q30-Q34 Congenital malformations of the respiratory system
0.267 0.733 0.000
Q54 Hypospadias
0.267 0.733 0.000
Q82 Other congenital malformations of skin
0.266 0.734 0.000
Q89.3 Situs inversus
0.266 0.734 0.000
Q65 Congenital deformities of hip
0.264 0.736 0.000
Q86 Congenital malformation syndromes due to known exogenous causes, not elsewhere classified
0.264 0.736 0.000
Q84 Other congenital malformations of integument
0.264 0.736 0.000
Q81 Epidermolysis bullosa
0.264 0.736 0.000
Q80 Congenital ichthyosis
0.264 0.736 0.000
Q22 Congenital malformations of pulmonary and tricuspid valves
0.262 0.738 0.000
Q79 Congenital malformations of musculoskeletal system, not elsewhere classified
0.259 0.741 0.000
Q55 Other congenital malformations of male genital organs
0.258 0.742 0.000
Q35-Q37 Cleft lip and cleft palate
0.258 0.742 0.000
Q61.2 Polycystic kidney, adult type
0.256 0.744 0.000
Q18 Other congenital malformations of face and neck
0.256 0.744 0.000
Q26 Congenital malformations of great veins
0.254 0.746 0.000
Q20 Congenital malformations of cardiac chambers and connexions
0.254 0.746 0.000
Q24.9 Congenital malformation of the heart, unspecified
0.254 0.746 0.000
Q89.9 Congenital malformation, unspecified
0.253 0.747 0.000
Q89.8 Other specified congenital malformations
0.253 0.747 0.000
Q89.7 Multiple congenital malformations, not elsewhere classified
0.253 0.747 0.000
Q89.4 Conjoined twins
0.253 0.747 0.000
Q89.1 Congenital malformations of adrenal gland
0.253 0.747 0.000
Q89.0 Congenital malformations of spleen
0.253 0.747 0.000
Q96 Turner's syndrome
0.251 0.749 0.000
Q83.1 Accessory breast
0.250 0.749 0.000
Q53.1 Undescended testicle, unilateral
0.250 0.750 0.000
Q51 Congenital malformations of uterus and cervix
0.250 0.750 0.000
Q25.0 Patent ductus arteriosus
0.250 0.750 0.000
Q56 Indeterminate sex and pseudohermaphroditism
0.248 0.752 0.000
Q27.8 Other specified congenital malformations of peripheral vascular system
0.248 0.752 0.000
Q28 Other congenital malformations of circulatory system
0.244 0.756 0.000
Q03 Congenital hydrocephalus
0.243 0.757 0.000
Q77 Osteochondrodysplasia with defects of growth of tubular bones and spine
0.242 0.758 0.000
Q25.7 Other congenital malformations of pulmonary artery
0.240 0.760 0.000
Q60.2 Renal agenesis, unspecified
0.240 0.760 0.000
Q90 Down's syndrome
0.234 0.766 0.000
Q78 Other osteochondrodysplasias
0.233 0.767 0.000
Q05 Spina bifida
0.232 0.767 0.000
Q79.6 Ehlers-Danlos syndrome
0.232 0.768 0.000
Q54.9 Hypospadias, unspecified
0.232 0.768 0.000
Q43 Other congenital malformations of intestine
0.231 0.769 0.000
Q74 Other congenital malformations of limb(s)
0.231 0.769 0.000
Q18.0 Sinus, fistula and cyst of branchial cleft
0.231 0.769 0.000
Q66 Congenital deformities of feet
0.230 0.770 0.000
Q25.1 Coarctation of aorta
0.230 0.770 0.000
Q25.9 Congenital malformation of great arteries, unspecified
0.228 0.772 0.000
Q25.8 Other congenital malformations of great arteries
0.228 0.772 0.000
Q25.6 Stenosis of pulmonary artery
0.228 0.772 0.000
Q25.5 Atresia of pulmonary artery
0.228 0.772 0.000
Q25.3 Stenosis of aorta
0.228 0.772 0.000
Q25.2 Atresia of aorta
0.228 0.772 0.000
Q62 Congenital obstructive defects of renal pelvis and congenital malformations of ureter
0.228 0.772 0.000
Q27.9 Congenital malformation of peripheral vascular system, unspecified
0.227 0.773 0.000
Q50.5 Embryonic cyst of broad ligament
0.226 0.774 0.000
Q07 Other congenital malformations of nervous system
0.226 0.774 0.000
Q75 Other congenital malformations of skull and face bones
0.225 0.775 0.000
Q73 Reduction defects of unspecified limb
0.225 0.775 0.000
Q72 Reduction defects of lower limb
0.225 0.775 0.000
Q71 Reduction defects of upper limb
0.225 0.775 0.000
Q70 Syndactyly
0.225 0.775 0.000
Q69 Polydactyly
0.225 0.775 0.000
Q68 Other congenital musculoskeletal deformities
0.225 0.775 0.000
Q23 Congenital malformations of aortic and mitral valves
0.225 0.775 0.000
Q27.3 Peripheral arteriovenous malformation
0.225 0.775 0.000
Q65.8 Other congenital deformities of hip
0.223 0.777 0.000
Q83.8 Other congenital malformations of breast
0.222 0.778 0.000
Q98 Other sex chromosome abnormalities, male phenotype, not elsewhere classified
0.220 0.779 0.000
Q99 Other chromosome abnormalities, not elsewhere classified
0.220 0.780 0.000
Q97 Other sex chromosome abnormalities, female phenotype, not elsewhere classified
0.220 0.780 0.000
Q95 Balanced rearrangements and structural markers, not elsewhere classified
0.220 0.780 0.000
Q93 Monosomies and deletions from the autosomes, not elsewhere classified
0.220 0.780 0.000
Q92 Other trisomies and partial trisomies of the autosomes, not elsewhere classified
0.220 0.780 0.000
Q91 Edwards' syndrome and Patau's syndrome
0.220 0.780 0.000
Q24.0 Dextrocardia
0.219 0.780 0.000
Q06 Other congenital malformations of spinal cord
0.219 0.781 0.000
Q04 Other congenital malformations of brain
0.219 0.781 0.000
Q01 Encephalocele
0.219 0.781 0.000
Q00 Anencephaly and similar malformations
0.219 0.781 0.000
Q02 Microcephaly
0.219 0.781 0.000
Q85.1 Tuberous sclerosis
0.218 0.781 0.000
Q85.8 Other phakomatoses, not elsewhere classified
0.217 0.783 0.000
Q43.8 Other specified congenital malformations of intestine
0.217 0.783 0.000
Q87.8 Other specified congenital malformation syndromes, not elsewhere classified
0.216 0.783 0.000
Q21.9 Congenital malformation of cardiac septum, unspecified
0.216 0.784 0.000
Q87.1 Congenital malformation syndromes predominantly associated with short stature
0.216 0.784 0.000
Q83.9 Congenital malformation of breast, unspecified
0.216 0.784 0.000
Q83.3 Accessory nipple
0.216 0.784 0.000
Q83.2 Absent nipple
0.216 0.784 0.000
Q83.0 Congenital absence of breast with absent nipple
0.216 0.784 0.000
Q24.6 Congenital heart block
0.216 0.784 0.000
Q64 Other congenital malformations of urinary system
0.215 0.785 0.000
Q53.9 Undescended testicle, unspecified
0.215 0.785 0.000
Q27.4 Congenital phlebectasia
0.215 0.785 0.000
Q27.2 Other congenital malformations of renal artery
0.215 0.785 0.000
Q27.1 Congenital renal artery stenosis
0.215 0.785 0.000
Q27.0 Congenital absence and hypoplasia of umbilical artery
0.215 0.785 0.000
Q52.5 Fusion of labia
0.215 0.785 0.000
Q40 Other congenital malformations of upper alimentary tract
0.213 0.786 0.000
Q50.4 Embryonic cyst of Fallopian tube
0.213 0.787 0.000
Q14 Congenital malformations of posterior segment of eye
0.212 0.787 0.000
Q61.5 Medullary cystic kidney
0.212 0.788 0.000
Q21.8 Other congenital malformations of cardiac septa
0.212 0.788 0.000
Q96.9 Turner's syndrome, unspecified
0.211 0.789 0.000
Q24.4 Congenital subaortic stenosis
0.210 0.790 0.000
Q24.3 Pulmonary infundibular stenosis
0.210 0.790 0.000
Q24.2 Cor triatriatum
0.210 0.790 0.000
Q24.1 Levocardia
0.210 0.790 0.000
Q53.2 Undescended testicle, bilateral
0.209 0.791 0.000
Q53.0 Ectopic testis
0.209 0.791 0.000
Q15 Other congenital malformations of eye
0.209 0.791 0.000
Q16 Congenital malformations of ear causing impairment of hearing
0.208 0.792 0.000
Q13 Congenital malformations of anterior segment of eye
0.208 0.792 0.000
Q11 Anophthalmos, microphthalmos and macrophthalmos
0.208 0.792 0.000
Q63 Other congenital malformations of kidney
0.204 0.796 0.000
Q67 Congenital musculoskeletal deformities of head, face, spine and chest
0.203 0.797 0.000
Q87.5 Other congenital malformation syndromes with other skeletal changes
0.203 0.797 0.000
Q87.3 Congenital malformation syndromes involving early overgrowth
0.203 0.797 0.000
Q87.2 Congenital malformation syndromes predominantly involving limbs
0.203 0.797 0.000
Q87.0 Congenital malformation syndromes predominantly affecting facial appearance
0.203 0.797 0.000
Q44 Congenital malformations of gallbladder, bile ducts and liver
0.202 0.798 0.000
Q50.6 Other congenital malformatons of Fallopian tube and broad ligament
0.201 0.799 0.000
Q50.3 Other congenital malformations of ovary
0.201 0.799 0.000
Q50.2 Congenital torsion of ovary
0.201 0.799 0.000
Q50.1 Developmental ovarian cyst
0.201 0.799 0.000
Q50.0 Congenital absence of ovary
0.201 0.799 0.000
Q51.1 Doubling of uterus with doubling of cervix and vagina
0.199 0.800 0.000
Q82.0 Hereditary lymphoedema
0.199 0.800 0.000
Q61.8 Other cystic kidney diseases
0.199 0.801 0.000
Q61.4 Renal dysplasia
0.199 0.801 0.000
Q61.1 Polycystic kidney, infantile type
0.199 0.801 0.000
Q65.2 Congenital dislocation of hip, unspecified
0.199 0.801 0.000
Q03.0 Malformations of aqueduct of Sylvius
0.199 0.801 0.000
Q66.3 Other congenital varus deformities of feet
0.199 0.801 0.000
Q10 Congenital malformations of eyelid, lachrymal apparatus and orbit
0.198 0.802 0.000
Q21.1 Atrial septal defect
0.198 0.802 0.000
Q85.9 Phakomatosis, unspecified
0.198 0.802 0.000
Q45 Other congenital malformations of digestive system
0.197 0.802 0.000
Q42 Congenital absence, atresia and stenosis of large intestine
0.197 0.802 0.000
Q41 Congenital absence, atresia and stenosis of small intestine
0.197 0.802 0.000
Q61.3 Polycystic kidney, unspecified
0.198 0.802 0.000
Q24.5 Malformation of coronary vessels
0.197 0.803 0.000
Q21.4 Aortopulmonary septal defect
0.197 0.803 0.000
Q21.3 Tetralogy of Fallot
0.197 0.803 0.000
Q21.2 Atrioventricular septal defect
0.197 0.803 0.000
Q51.8 Other congenital malformations of uterus and cervix
0.197 0.803 0.000
Q60.6 Potter's syndrome
0.196 0.804 0.000
Q60.5 Renal hypoplasia, unspecified
0.196 0.804 0.000
Q60.4 Renal hypoplasia, bilateral
0.196 0.804 0.000
Q60.3 Renal hypoplasia, unilateral
0.196 0.804 0.000
Q60.1 Renal agenesis, bilateral
0.196 0.804 0.000
Q87.4 Marfan's syndrome
0.196 0.804 0.000
Q24.8 Other specified congenital malformations of heart
0.196 0.804 0.000
Q22.5 Ebstein's anomaly
0.196 0.804 0.000
Q60.0 Renal agenesis, unilateral
0.196 0.804 0.000
Q82.5 Congenital nonneoplastic naevus
0.196 0.804 0.000
Q51.4 Unicornate uterus
0.194 0.806 0.000
Q52.9 Congenital malformation of female genitalia, unspecified
0.193 0.807 0.000
Q52.8 Other specified congenital malformations of female genitalia
0.193 0.807 0.000
Q52.7 Other congenital malformations of vulva
0.193 0.807 0.000
Q52.6 Congenital malformation of clitoris
0.193 0.807 0.000
Q52.4 Other congenital malformations of vagina
0.193 0.807 0.000
Q52.3 Imperforate hymen
0.193 0.807 0.000
Q52.2 Congenital rectovaginal fistula
0.193 0.807 0.000
Q52.1 Doubling of vagina
0.193 0.807 0.000
Q52.0 Congenital absence of vagina
0.193 0.807 0.000
Q61.9 Cystic kidney disease, unspecified
0.193 0.807 0.000
Q55.2 Other congenital malformations of testis and scrotum
0.192 0.808 0.000
Q82.8 Other specified congenital malformations of skin
0.192 0.808 0.000
Q34 Other congenital malformations of respiratory system
0.191 0.808 0.000
Q33 Congenital malformations of lung
0.191 0.808 0.000
Q32 Congenital malformations of trachea and bronchus
0.191 0.808 0.000
Q31 Congenital malformations of larynx
0.191 0.808 0.000
Q30 Congenital malformations of nose
0.191 0.808 0.000
Q54.8 Other hypospadias
0.191 0.808 0.000
Q54.4 Congenital chordee
0.191 0.808 0.000
Q54.3 Hypospadias, perineal
0.191 0.808 0.000
Q54.2 Hypospadias, penoscrotal
0.191 0.808 0.000
Q77.4 Achondroplasia
0.191 0.808 0.000
Q82.9 Congenital malformation of skin, unspecified
0.191 0.809 0.000
Q82.4 Ectodermal dysplasia (anhidrotic)
0.191 0.809 0.000
Q82.3 Incontinentia pigmenti
0.191 0.809 0.000
Q82.1 Xeroderma pigmentosum
0.191 0.809 0.000
Q17 Other congenital malformations of ear
0.191 0.809 0.000
Q28.3 Other malformations of cerebral vessels
0.191 0.809 0.000
Q65.9 Congenital deformity of hip, unspecified
0.189 0.811 0.000
Q65.6 Unstable hip
0.189 0.811 0.000
Q65.5 Congenital subluxation of hip, unspecified
0.189 0.811 0.000
Q65.4 Congenital subluxation of hip, bilateral
0.189 0.811 0.000
Q65.3 Congenital subluxation of hip, unilateral
0.189 0.811 0.000
Q65.1 Congenital dislocation of hip, bilateral
0.189 0.811 0.000
Q65.0 Congenital dislocation of hip, unilateral
0.189 0.811 0.000
Q80.9 Congenital ichthyosis, unspecified
0.189 0.811 0.000
Q80.8 Other congenital ichthyosis
0.189 0.811 0.000
Q80.4 Harlequin foetus
0.189 0.811 0.000
Q80.3 Congenital bullous ichthyosiform erythroderma
0.189 0.811 0.000
Q80.2 Lamellar ichthyosis
0.189 0.811 0.000
Q80.1 X-linked ichthyosis
0.189 0.811 0.000
Q80.0 Ichthyosis vulgaris
0.189 0.811 0.000
Q81.9 Epidermolysis bullosa, unspecified
0.189 0.811 0.000
Q81.8 Other epidermolysis bullosa
0.189 0.811 0.000
Q81.2 Epidermolysis bullosa dystrophica
0.189 0.811 0.000
Q81.1 Epidermolysis bullosa letalis
0.189 0.811 0.000
Q81.0 Epidermolysis bullosa simplex
0.189 0.811 0.000
Q84.9 Congenital malformation of integument, unspecified
0.189 0.811 0.000
Q84.8 Other specified congenital malformations of integument
0.189 0.811 0.000
Q84.6 Other congenital malformations of nails
0.189 0.811 0.000
Q84.5 Enlarged and hypertrophic nails
0.189 0.811 0.000
Q84.4 Congenital leukonychia
0.189 0.811 0.000
Q84.3 Anonychia
0.189 0.811 0.000
Q84.2 Other congenital malformations of hair
0.189 0.811 0.000
Q84.1 Congenital morphological disturbances of hair, not elsewhere classified
0.189 0.811 0.000
Q84.0 Congenital alopecia
0.189 0.811 0.000
Q86.8 Other congenital malformation syndromes due to known exogenous causes
0.189 0.811 0.000
Q86.2 Dysmorphism due to warfarin
0.189 0.811 0.000
Q86.1 Foetal hydantoin syndrome
0.189 0.811 0.000
Q86.0 Foetal alcohol syndrome (dysmorphic)
0.189 0.811 0.000
Q18.1 Preauricular sinus and cyst
0.188 0.812 0.000
Q22.9 Congenital malformation of tricuspid valve, unspecified
0.188 0.812 0.000
Q22.8 Other congenital malformations of tricuspid valve
0.188 0.812 0.000
Q22.6 Hypoplastic right heart syndrome
0.188 0.812 0.000
Q22.4 Congenital tricuspid stenosis
0.188 0.812 0.000
Q22.3 Other congenital malformations of pulmonary valve
0.188 0.812 0.000
Q22.2 Congenital pulmonary valve insufficiency
0.188 0.812 0.000
Q22.1 Congenital pulmonary valve stenosis
0.188 0.812 0.000
Q22.0 Pulmonary valve atresia
0.188 0.812 0.000
Q55.6 Other congenital malformations of penis
0.188 0.812 0.000
Q74.2 Other congenital malformations of lower limb(s), including pelvic girdle
0.186 0.814 0.000
Q79.9 Congenital malformation of musculoskeletal system, unspecified
0.185 0.814 0.000
Q79.5 Other congenital malformations of abdominal wall
0.185 0.814 0.000
Q79.4 Prune belly syndrome
0.185 0.814 0.000
Q79.3 Gastroschisis
0.185 0.814 0.000
Q79.2 Exomphalos
0.185 0.814 0.000
Q79.1 Other congenital malformations of diaphragm
0.185 0.814 0.000
Q79.0 Congenital diaphragmatic hernia
0.185 0.814 0.000
Q55.9 Congenital malformation of male genital organ, unspecified
0.185 0.815 0.000
Q55.8 Other specified congenital malformations of male genital organs
0.185 0.815 0.000
Q55.5 Congenital absence and aplasia of penis
0.185 0.815 0.000
Q55.4 Other congenital malformations of vas deferens, epididymis, seminal vesicles and prostate
0.185 0.815 0.000
Q55.3 Atresia of vas deferens
0.185 0.815 0.000
Q55.1 Hypoplasia of testis and scrotum
0.185 0.815 0.000
Q55.0 Absence and aplasia of testis
0.185 0.815 0.000
Q36 Cleft lip
0.185 0.815 0.000
Q18.9 Congenital malformation of face and neck, unspecified
0.184 0.816 0.000
Q18.8 Other specified congenital malformations of face and neck
0.184 0.816 0.000
Q18.7 Microcheilia
0.184 0.816 0.000
Q18.6 Macrocheilia
0.184 0.816 0.000
Q18.5 Microstomia
0.184 0.816 0.000
Q18.4 Macrostomia
0.184 0.816 0.000
Q18.3 Webbing of neck
0.184 0.816 0.000
Q18.2 Other branchial cleft malformations
0.184 0.816 0.000
Q54.0 Hypospadias, balanic
0.184 0.816 0.000
Q39 Congenital malformations of oesophagus
0.183 0.817 0.000
Q20.9 Congenital malformation of cardiac chambers and connexions, unspecified
0.182 0.817 0.000
Q20.8 Other congenital malformations of cardiac chambers and connexions
0.182 0.817 0.000
Q20.6 Isomerism of atrial appendages
0.182 0.817 0.000
Q20.5 Discordant atrioventricular connexion
0.182 0.817 0.000
Q20.4 Double inlet ventricle
0.182 0.817 0.000
Q20.3 Discordant ventriculoarterial connexion
0.182 0.817 0.000
Q20.2 Double outlet left ventricle
0.182 0.817 0.000
Q20.1 Double outlet right ventricle
0.182 0.817 0.000
Q20.0 Common arterial trunk
0.182 0.817 0.000
Q26.9 Congenital malformation of great vein, unspecified
0.182 0.817 0.000
Q26.8 Other congenital malformations of great veins
0.182 0.817 0.000
Q26.6 Portal vein-hepatic artery fistula
0.182 0.817 0.000
Q26.5 Anomalous portal venous connexion
0.182 0.817 0.000
Q26.4 Anomalous pulmonary venous connexion, unspecified
0.182 0.817 0.000
Q26.3 Partial anomalous pulmonary venous connexion
0.182 0.817 0.000
Q26.2 Total anomalous pulmonary venous connexion
0.182 0.817 0.000
Q26.1 Persistent left superior vena cava
0.182 0.817 0.000
Q26.0 Congenital stenosis of vena cava
0.182 0.817 0.000
Q35 Cleft palate
0.182 0.818 0.000
Q90.9 Down's syndrome, unspecified
0.181 0.818 0.000
Q05.7 Lumbar spina bifida without hydrocephalus
0.181 0.818 0.000
Q28.0 Arteriovenous malformation of precerebral vessels
0.181 0.819 0.000
Q96.8 Other variants of Turner's syndrome
0.180 0.820 0.000
Q96.4 Mosaicism, 45,X/other cell line(s) with abnormal sex chromosome
0.180 0.820 0.000
Q96.3 Mosaicism, 45,X/46,XX or XY
0.180 0.820 0.000
Q96.2 Karyotype 46,X with abnormal sex chromosome, except iso (Xq)
0.180 0.820 0.000
Q96.1 Karyotype 46,X iso (Xq)
0.180 0.820 0.000
Q96.0 Karyotype 45,X
0.180 0.820 0.000
Q51.9 Congenital malformation of uterus and cervix, unspecified
0.179 0.820 0.000
Q51.7 Congenital fistulae between uterus and digestive and urinary tracts
0.179 0.820 0.000
Q51.6 Embryonic cyst of cervix
0.179 0.820 0.000
Q51.5 Agenesis and aplasia of cervix
0.179 0.820 0.000
Q51.0 Agenesis and aplasia of uterus
0.179 0.820 0.000
Q37 Cleft palate with cleft lip
0.179 0.821 0.000
Q82.2 Mastocytosis
0.178 0.821 0.000
Q56.4 Indeterminate sex, unspecified
0.178 0.822 0.000
Q56.3 Pseudohermaphroditism, unspecified
0.178 0.822 0.000
Q56.2 Female pseudohermaphroditism, not elsewhere classified
0.178 0.822 0.000
Q56.1 Male pseudohermaphroditism, not elsewhere classified
0.178 0.822 0.000
Q56.0 Hermaphroditism, not elsewhere classified
0.178 0.822 0.000
Q21.0 Ventricular septal defect
0.177 0.823 0.000
Q07.8 Other specified congenital malformations of nervous system
0.177 0.823 0.000
Q78.0 Osteogenesis imperfecta
0.176 0.824 0.000
Q28.9 Congenital malformation of circulatory system, unspecified
0.175 0.825 0.000
Q28.8 Other specified congenital malformations of circulatory system
0.175 0.825 0.000
Q28.1 Other malformations of precerebral vessels
0.175 0.825 0.000
Q03.9 Congenital hydrocephalus, unspecified
0.175 0.825 0.000
Q03.8 Other congenital hydrocephalus
0.175 0.825 0.000
Q03.1 Atresia of foramina of Magendie and Luschka
0.175 0.825 0.000
Q77.9 Osteochondrodysplasia with defects of growth of tubular bones and spine, unspecified
0.174 0.826 0.000
Q77.8 Other osteochondrodysplasia with defects of growth of tubular bones and spine
0.174 0.826 0.000
Q77.7 Spondyloepiphyseal dysplasia
0.174 0.826 0.000
Q77.6 Chondroectodermal dysplasia
0.174 0.826 0.000
Q77.5 Diastrophic dysplasia
0.174 0.826 0.000
Q77.3 Chondrodysplasia punctata
0.174 0.826 0.000
Q77.2 Short rib syndrome
0.174 0.826 0.000
Q77.1 Thanatophoric short stature
0.174 0.826 0.000
Q77.0 Achondrogenesis
0.174 0.826 0.000
Q12 Congenital lens malformations
0.174 0.826 0.000
Q66.6 Other congenital valgus deformities of feet
0.172 0.827 0.000
Q40.2 Other specified congenital malformations of stomach
0.171 0.829 0.000
Q05.9 Spina bifida, unspecified
0.169 0.831 0.000
Q64.7 Other congenital malformations of bladder and urethra
0.169 0.831 0.000
Q90.2 Trisomy 21, translocation
0.168 0.832 0.000
Q90.1 Trisomy 21, mosaicism (mitotic nondisjunction)
0.168 0.832 0.000
Q90.0 Trisomy 21, meiotic nondisjunction
0.168 0.832 0.000
Q78.9 Osteochondrodysplasia, unspecified
0.167 0.832 0.000
Q78.8 Other specified osteochondrodysplasias
0.167 0.832 0.000
Q78.6 Multiple congenital exostoses
0.167 0.832 0.000
Q78.5 Metaphyseal dysplasia
0.167 0.832 0.000
Q78.4 Enchondromatosis
0.167 0.832 0.000
Q78.3 Progressive diaphyseal dysplasia
0.167 0.832 0.000
Q78.2 Osteopetrosis
0.167 0.832 0.000
Q78.1 Polyostotic fibrous dysplasia
0.167 0.832 0.000
Q05.8 Sacral spina bifida without hydrocephalus
0.167 0.833 0.000
Q05.6 Thoracic spina bifida without hydrocephalus
0.167 0.833 0.000
Q05.5 Cervical spina bifida without hydrocephalus
0.167 0.833 0.000
Q05.3 Sacral spina bifida with hydrocephalus
0.167 0.833 0.000
Q05.2 Lumbar spina bifida with hydrocephalus
0.167 0.833 0.000
Q05.1 Thoracic spina bifida with hydrocephalus
0.167 0.833 0.000
Q05.0 Cervical spina bifida with hydrocephalus
0.167 0.833 0.000
Q43.7 Persistent cloaca
0.166 0.834 0.000
Q43.6 Congenital fistula of rectum and anus
0.166 0.834 0.000
Q43.5 Ectopic anus
0.166 0.834 0.000
Q43.4 Duplication of intestine
0.166 0.834 0.000
Q43.2 Other congenital functional disorders of colon
0.166 0.834 0.000
Q74.0 Other congenital malformations of upper limb(s), including shoulder girdle
0.166 0.834 0.000
Q74.9 Unspecified congenital malformation of limb(s)
0.166 0.834 0.000
Q74.8 Other specified congenital malformations of limb(s)
0.166 0.834 0.000
Q74.3 Arthrogryposis multiplex congenita
0.166 0.834 0.000
Q66.5 Congenital pes planus
0.165 0.835 0.000
Q66.4 Talipes calcaneovalgus
0.165 0.835 0.000
Q66.1 Talipes calcaneovarus
0.165 0.835 0.000
Q66.0 Talipes equinovarus
0.165 0.835 0.000
Q66.9 Congenital deformity of feet, unspecified
0.164 0.835 0.000
Q62.8 Other congenital malformations of ureter
0.163 0.836 0.000
Q62.7 Congenital vesico-uretero-renal reflux
0.163 0.836 0.000
Q62.6 Malposition of ureter
0.163 0.836 0.000
Q62.4 Agenesis of ureter
0.163 0.836 0.000
Q62.3 Other obstructive defects of renal pelvis and ureter
0.163 0.836 0.000
Q62.2 Congenital megaloureter
0.163 0.836 0.000
Q62.1 Atresia and stenosis of ureter
0.163 0.836 0.000
Q62.0 Congenital hydronephrosis
0.163 0.836 0.000
Q05.4 Unspecified spina bifida with hydrocephalus
0.163 0.837 0.000
Q07.9 Congenital malformation of nervous system, unspecified
0.162 0.838 0.000
Q43.1 Hirschsprung's disease
0.162 0.838 0.000
Q68.8 Other specified congenital musculoskeletal deformities
0.161 0.839 0.000
Q68.5 Congenital bowing of long bones of leg, unspecified
0.161 0.839 0.000
Q68.4 Congenital bowing of tibia and fibula
0.161 0.839 0.000
Q68.3 Congenital bowing of femur
0.161 0.839 0.000
Q68.2 Congenital deformity of knee
0.161 0.839 0.000
Q68.1 Congenital deformity of hand
0.161 0.839 0.000
Q68.0 Congenital deformity of sternocleidomastoid muscle
0.161 0.839 0.000
Q69.9 Polydactyly, unspecified
0.161 0.839 0.000
Q69.2 Accessory toe(s)
0.161 0.839 0.000
Q69.1 Accessory thumb(s)
0.161 0.839 0.000
Q69.0 Accessory finger(s)
0.161 0.839 0.000
Q70.9 Syndactyly, unspecified
0.161 0.839 0.000
Q70.4 Polysyndactyly
0.161 0.839 0.000
Q70.3 Webbed toes
0.161 0.839 0.000
Q70.2 Fused toes
0.161 0.839 0.000
Q70.1 Webbed fingers
0.161 0.839 0.000
Q70.0 Fused fingers
0.161 0.839 0.000
Q71.9 Reduction defect of upper limb, unspecified
0.161 0.839 0.000
Q71.8 Other reduction defects of upper limb(s)
0.161 0.839 0.000
Q71.6 Lobster-claw hand
0.161 0.839 0.000
Q71.5 Longitudinal reduction defect of ulna
0.161 0.839 0.000
Q71.4 Longitudinal reduction defect of radius
0.161 0.839 0.000
Q71.3 Congenital absence of hand and finger(s)
0.161 0.839 0.000
Q71.2 Congenital absence of both forearm and hand
0.161 0.839 0.000
Q71.1 Congenital absence of upper arm and forearm with hand present
0.161 0.839 0.000
Q71.0 Congenital complete absence of upper limb(s)
0.161 0.839 0.000
Q72.9 Reduction defect of lower limb, unspecified
0.161 0.839 0.000
Q72.8 Other reduction defects of lower limb(s)
0.161 0.839 0.000
Q72.7 Split foot
0.161 0.839 0.000
Q72.6 Longitudinal reduction defect of fibula
0.161 0.839 0.000
Q72.5 Longitudinal reduction defect of tibia
0.161 0.839 0.000
Q72.4 Longitudinal reduction defect of femur
0.161 0.839 0.000
Q72.3 Congenital absence of foot and toe(s)
0.161 0.839 0.000
Q72.2 Congenital absence of both lower leg and foot
0.161 0.839 0.000
Q72.1 Congenital absence of thigh and lower leg with foot present
0.161 0.839 0.000
Q72.0 Congenital complete absence of lower limb(s)
0.161 0.839 0.000
Q73.8 Other reduction defects of unspecified limb(s)
0.161 0.839 0.000
Q73.1 Phocomelia, unspecified limb(s)
0.161 0.839 0.000
Q73.0 Congenital absence of unspecified limb(s)
0.161 0.839 0.000
Q75.9 Congenital malformation of skull and face bones, unspecified
0.161 0.839 0.000
Q75.8 Other specified congenital malformations of skull and face bones
0.161 0.839 0.000
Q75.5 Oculomandibular dysostosis
0.161 0.839 0.000
Q75.4 Mandibulofacial dysostosis
0.161 0.839 0.000
Q75.3 Macrocephaly
0.161 0.839 0.000
Q75.2 Hypertelorism
0.161 0.839 0.000
Q75.1 Craniofacial dysostosis
0.161 0.839 0.000
Q75.0 Craniosynostosis
0.161 0.839 0.000
Q23.9 Congenital malformation of aortic and mitral valves, unspecified
0.161 0.839 0.000
Q23.8 Other congenital malformations of aortic and mitral valves
0.161 0.839 0.000
Q23.4 Hypoplastic left heart syndrome
0.161 0.839 0.000
Q23.3 Congenital mitral insufficiency
0.161 0.839 0.000
Q23.2 Congenital mitral stenosis
0.161 0.839 0.000
Q62.5 Duplication of ureter
0.160 0.839 0.000
Q43.0 Meckel's diverticulum
0.160 0.840 0.000
Q44.6 Cystic disease of liver
0.160 0.840 0.000
Q63.8 Other specified congenital malformations of kidney
0.159 0.840 0.000
Q98.4 Klinefelter's syndrome, unspecified
0.159 0.841 0.000
Q98.9 Sex chromosome abnormality, male phenotype, unspecified
0.158 0.842 0.000
Q98.8 Other specified sex chromosome abnormalities, male phenotype
0.158 0.842 0.000
Q98.7 Male with sex chromosome mosaicism
0.158 0.842 0.000
Q98.6 Male with structurally abnormal sex chromosome
0.158 0.842 0.000
Q98.5 Karyotype 47,XYY
0.158 0.842 0.000
Q98.3 Other male with 46,XX karyotype
0.158 0.842 0.000
Q98.2 Klinefelter's syndrome, male with 46,XX karyotype
0.158 0.842 0.000
Q98.1 Klinefelter's syndrome, male with more than two X chromosomes
0.158 0.842 0.000
Q98.0 Klinefelter's syndrome karyotype 47,XXY
0.158 0.842 0.000
Q91.7 Patau's syndrome, unspecified
0.158 0.842 0.000
Q91.6 Trisomy 13, translocation
0.158 0.842 0.000
Q91.5 Trisomy 13, mosaicism (mitotic nondisjunction)
0.158 0.842 0.000
Q91.4 Trisomy 13, meiotic nondisjunction
0.158 0.842 0.000
Q91.3 Edwards' syndrome, unspecified
0.158 0.842 0.000
Q91.2 Trisomy 18, translocation
0.158 0.842 0.000
Q91.1 Trisomy 18, mosaicism (mitotic nondisjunction)
0.158 0.842 0.000
Q91.0 Trisomy 18, meiotic nondisjunction
0.158 0.842 0.000
Q92.9 Trisomy and partial trisomy of autosomes, unspecified
0.158 0.842 0.000
Q92.8 Other specified trisomies and partial trisomies of autosomes
0.158 0.842 0.000
Q92.7 Triploidy and polyploidy
0.158 0.842 0.000
Q92.6 Extra marker chromosomes
0.158 0.842 0.000
Q92.5 Duplications with other complex rearrangements
0.158 0.842 0.000
Q92.4 Duplications seen only at prometaphase
0.158 0.842 0.000
Q92.3 Minor partial trisomy
0.158 0.842 0.000
Q92.2 Major partial trisomy
0.158 0.842 0.000
Q92.1 Whole chromosome trisomy, mosaicism (mitotic nondisjunction)
0.158 0.842 0.000
Q92.0 Whole chromosome trisomy, meiotic nondisjunction
0.158 0.842 0.000
Q93.9 Deletion from autosomes, unspecified
0.158 0.842 0.000
Q93.8 Other deletions from the autosomes
0.158 0.842 0.000
Q93.7 Deletions with other complex rearrangements
0.158 0.842 0.000
Q93.6 Deletions seen only at prometaphase
0.158 0.842 0.000
Q93.5 Other deletions of part of a chromosome
0.158 0.842 0.000
Q93.4 Deletion of short arm of chromosome 5
0.158 0.842 0.000
Q93.3 Deletion of short arm of chromosome 4
0.158 0.842 0.000
Q93.2 Chromosome replaced with ring or dicentric
0.158 0.842 0.000
Q93.1 Whole chromosome monosomy, mosaicism (mitotic nondisjunction)
0.158 0.842 0.000
Q93.0 Whole chromosome monosomy, meiotic nondisjunction
0.158 0.842 0.000
Q95.9 Balanced rearrangement and structural marker, unspecified
0.158 0.842 0.000
Q95.8 Other balanced rearrangements and structural markers
0.158 0.842 0.000
Q95.5 Individuals with autosomal fragile site
0.158 0.842 0.000
Q95.4 Individuals with marker heterochromatin
0.158 0.842 0.000
Q95.3 Balanced sex/autosomal rearrangement in abnormal individual
0.158 0.842 0.000
Q95.2 Balanced autosomal rearrangement in abnormal individual
0.158 0.842 0.000
Q95.1 Chromosome inversion in normal individual
0.158 0.842 0.000
Q95.0 Balanced translocation and insertion in normal individual
0.158 0.842 0.000
Q97.9 Sex chromosome abnormality, female phenotype, unspecified
0.158 0.842 0.000
Q97.8 Other specified sex chromosome abnormalities, female phenotype
0.158 0.842 0.000
Q97.3 Female with 46,XY karyotype
0.158 0.842 0.000
Q97.2 Mosaicism, lines with various numbers of X chromosomes
0.158 0.842 0.000
Q97.1 Female with more than three X chromosomes
0.158 0.842 0.000
Q97.0 Karyotype 47,XXX
0.158 0.842 0.000
Q99.9 Chromosomal abnormality, unspecified
0.158 0.842 0.000
Q99.8 Other specified chromosome abnormalities
0.158 0.842 0.000
Q99.2 Fragile X chromosome
0.158 0.842 0.000
Q99.1 46,XX true hermaphrodite
0.158 0.842 0.000
Q99.0 Chimera 46,XX/46,XY
0.158 0.842 0.000
Q63.9 Congenital malformation of kidney, unspecified
0.157 0.842 0.000
Q54.1 Hypospadias, penile
0.157 0.843 0.000

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

The full results table can be downloaded from this page.

 

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

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

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

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