TreeWAS – Variant ID: rs6975557

Hospitalization Episode Statistics (HES)

Self-Reported Statistics (SRS)

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Results table

Term	Risk posterior probability	No effect posterior probability
Q38-Q45 Other congenital malformations of the digestive system	0.036	0.964
Q38 Other congenital malformations of tongue, mouth and pharynx	0.034	0.966
Q40 Other congenital malformations of upper alimentary tract	0.034	0.966
Q65-Q79 Congenital malformations and deformations of the musculoskeletal system	0.033	0.967
Q38.7 Pharyngeal pouch	0.033	0.967
Chapter XVII Congenital malformations, deformations and chromosomal abnormalities	0.032	0.968
Q40.2 Other specified congenital malformations of stomach	0.032	0.968
Q44 Congenital malformations of gallbladder, bile ducts and liver	0.031	0.969
Q79 Congenital malformations of musculoskeletal system, not elsewhere classified	0.031	0.969
Q67 Congenital musculoskeletal deformities of head, face, spine and chest	0.029	0.970
Q40.3 Congenital malformation of stomach, unspecified	0.028	0.972
Q78 Other osteochondrodysplasias	0.027	0.973
Q38.0 Congenital malformations of lips, not elsewhere classified	0.027	0.973
Q44.5 Other congenital malformations of bile ducts	0.027	0.973
Q39 Congenital malformations of oesophagus	0.027	0.973
Q80-Q89 Other congenital malformations	0.027	0.973
Q79.6 Ehlers-Danlos syndrome	0.026	0.973
Q74 Other congenital malformations of limb(s)	0.026	0.973
Q90-Q99 Chromosomal abnormalities, not elsewhere classified	0.026	0.974
Q10-Q18 Congenital malformations of eye, ear, face and neck	0.026	0.974
Q42 Congenital absence, atresia and stenosis of large intestine	0.026	0.974
Q41 Congenital absence, atresia and stenosis of small intestine	0.026	0.974
Q45 Other congenital malformations of digestive system	0.025	0.975
Q66 Congenital deformities of feet	0.025	0.975
Q67.4 Other congenital deformities of skull, face and jaw	0.025	0.975
Q76 Congenital malformations of spine and bony thorax	0.025	0.975
Q30-Q34 Congenital malformations of the respiratory system	0.025	0.975
Q79.8 Other congenital malformations of musculoskeletal system	0.025	0.975
Q79.1 Other congenital malformations of diaphragm	0.025	0.975
Q38.8 Other congenital malformations of pharynx	0.025	0.975
Q38.6 Other congenital malformations of mouth	0.025	0.975
Q38.5 Congenital malformations of palate, not elsewhere classified	0.025	0.975
Q38.4 Congenital malformations of salivary glands and ducts	0.025	0.975
Q38.3 Other congenital malformations of tongue	0.025	0.975
Q38.2 Macroglossia	0.025	0.975
Q38.1 Ankyloglossia	0.025	0.975
Q40.9 Congenital malformation of upper alimentary tract, unspecified	0.024	0.975
Q40.8 Other specified congenital malformations of upper alimentary tract	0.024	0.975
Q40.1 Congenital hiatus hernia	0.024	0.975
Q40.0 Congenital hypertrophic pyloric stenosis	0.024	0.975
Q44.6 Cystic disease of liver	0.024	0.976
Q77 Osteochondrodysplasia with defects of growth of tubular bones and spine	0.024	0.976
Q75 Other congenital malformations of skull and face bones	0.024	0.976
Q73 Reduction defects of unspecified limb	0.024	0.976
Q72 Reduction defects of lower limb	0.024	0.976
Q71 Reduction defects of upper limb	0.024	0.976
Q70 Syndactyly	0.024	0.976
Q69 Polydactyly	0.024	0.976
Q68 Other congenital musculoskeletal deformities	0.024	0.976
Q67.6 Pectus excavatum	0.023	0.977
Q35-Q37 Cleft lip and cleft palate	0.023	0.977
Q65 Congenital deformities of hip	0.023	0.977
Q78.0 Osteogenesis imperfecta	0.023	0.977
Q67.5 Congenital deformity of spine	0.023	0.977
Q44.7 Other congenital malformations of liver	0.022	0.977
Q44.4 Choledochal cyst	0.022	0.977
Q44.3 Congenital stenosis and stricture of bile ducts	0.022	0.977
Q44.2 Atresia of bile ducts	0.022	0.977
Q44.1 Other congenital malformations of gallbladder	0.022	0.977
Q44.0 Agenesis, aplasia and hypoplasia of gallbladder	0.022	0.977
Q79.9 Congenital malformation of musculoskeletal system, unspecified	0.022	0.978
Q79.5 Other congenital malformations of abdominal wall	0.022	0.978
Q79.4 Prune belly syndrome	0.022	0.978
Q79.3 Gastroschisis	0.022	0.978
Q79.2 Exomphalos	0.022	0.978
Q79.0 Congenital diaphragmatic hernia	0.022	0.978
Q82 Other congenital malformations of skin	0.022	0.978
Q83 Congenital malformations of breast	0.022	0.978
Q76.1 Klippel-Feil syndrome	0.022	0.978
Q60-Q64 Congenital malformations of the urinary system	0.022	0.978
Q39.6 Diverticulum of oesophagus	0.022	0.978
Q87 Other specified congenital malformation syndromes affecting multiple systems	0.022	0.978
Q67.8 Other congenital deformities of chest	0.021	0.979
Q67.7 Pectus carinatum	0.021	0.979
Q67.3 Plagiocephaly	0.021	0.979
Q67.2 Dolichocephaly	0.021	0.979
Q67.1 Compression facies	0.021	0.979
Q67.0 Facial asymmetry	0.021	0.979
Q00-Q07 Congenital malformations of the nervous system	0.021	0.979
Q99 Other chromosome abnormalities, not elsewhere classified	0.021	0.979
Q74.2 Other congenital malformations of lower limb(s), including pelvic girdle	0.020	0.979
Q15 Other congenital malformations of eye	0.020	0.979
Q74.1 Congenital malformation of knee	0.020	0.980
Q98 Other sex chromosome abnormalities, male phenotype, not elsewhere classified	0.020	0.980
Q83.1 Accessory breast	0.020	0.980
Q96 Turner's syndrome	0.020	0.980
Q30 Congenital malformations of nose	0.020	0.980
Q66.2 Metatarsus varus	0.020	0.980
H53.2 Diplopia	0.020	0.980
Q43 Other congenital malformations of intestine	0.020	0.980
Q12 Congenital lens malformations	0.020	0.980
Q78.9 Osteochondrodysplasia, unspecified	0.020	0.980
Q78.8 Other specified osteochondrodysplasias	0.020	0.980
Q78.6 Multiple congenital exostoses	0.020	0.980
Q78.5 Metaphyseal dysplasia	0.020	0.980
Q78.4 Enchondromatosis	0.020	0.980
Q78.3 Progressive diaphyseal dysplasia	0.020	0.980
Q78.2 Osteopetrosis	0.020	0.980
Q78.1 Polyostotic fibrous dysplasia	0.020	0.980
Q39.9 Congenital malformation of oesophagus, unspecified	0.019	0.980
Q39.8 Other congenital malformations of oesophagus	0.019	0.980
Q39.5 Congenital dilatation of oesophagus	0.019	0.980
Q39.3 Congenital stenosis and stricture of oesophagus	0.019	0.980
Q39.2 Congenital tracheooesophageal fistula without atresia	0.019	0.980
Q39.1 Atresia of oesophagus with tracheooesophageal fistula	0.019	0.980
Q39.0 Atresia of oesophagus without fistula	0.019	0.980
Q74.0 Other congenital malformations of upper limb(s), including shoulder girdle	0.019	0.980
Q82.2 Mastocytosis	0.019	0.981
Q86 Congenital malformation syndromes due to known exogenous causes, not elsewhere classified	0.019	0.981
Q84 Other congenital malformations of integument	0.019	0.981
Q81 Epidermolysis bullosa	0.019	0.981
Q80 Congenital ichthyosis	0.019	0.981
Q74.9 Unspecified congenital malformation of limb(s)	0.019	0.981
Q74.8 Other specified congenital malformations of limb(s)	0.019	0.981
Q74.3 Arthrogryposis multiplex congenita	0.019	0.981
Q10 Congenital malformations of eyelid, lachrymal apparatus and orbit	0.019	0.981
Q97 Other sex chromosome abnormalities, female phenotype, not elsewhere classified	0.019	0.981
Q95 Balanced rearrangements and structural markers, not elsewhere classified	0.019	0.981
Q93 Monosomies and deletions from the autosomes, not elsewhere classified	0.019	0.981
Q92 Other trisomies and partial trisomies of the autosomes, not elsewhere classified	0.019	0.981
Q91 Edwards' syndrome and Patau's syndrome	0.019	0.981
Q90 Down's syndrome	0.019	0.981
Q14 Congenital malformations of posterior segment of eye	0.019	0.981
Q17 Other congenital malformations of ear	0.019	0.981
Q16 Congenital malformations of ear causing impairment of hearing	0.019	0.981
Q13 Congenital malformations of anterior segment of eye	0.019	0.981
Q11 Anophthalmos, microphthalmos and macrophthalmos	0.019	0.981
Q41.9 Congenital absence, atresia and stenosis of small intestine, part unspecified	0.018	0.981
Q41.8 Congenital absence, atresia and stenosis of other specified parts of small intestine	0.018	0.981
Q41.2 Congenital absence, atresia and stenosis of ileum	0.018	0.981
Q41.1 Congenital absence, atresia and stenosis of jejunum	0.018	0.981
Q41.0 Congenital absence, atresia and stenosis of duodenum	0.018	0.981
Q42.9 Congenital absence, atresia and stenosis of large intestine, part unspecified	0.018	0.981
Q42.8 Congenital absence, atresia and stenosis of other parts of large intestine	0.018	0.981
Q42.3 Congenital absence, atresia and stenosis of anus without fistula	0.018	0.981
Q42.2 Congenital absence, atresia and stenosis of anus with fistula	0.018	0.981
Q42.1 Congenital absence, atresia and stenosis of rectum without fistula	0.018	0.981
Q42.0 Congenital absence, atresia and stenosis of rectum with fistula	0.018	0.981
Q45.9 Congenital malformation of digestive system, unspecified	0.018	0.982
Q45.3 Other congenital malformations of pancreas and pancreatic duct	0.018	0.982
Q45.2 Congenital pancreatic cyst	0.018	0.982
Q45.1 Annular pancreas	0.018	0.982
Q45.0 Agenesis, aplasia and hypoplasia of pancreas	0.018	0.982
Q39.4 Oesophageal web	0.018	0.982
Q66.3 Other congenital varus deformities of feet	0.018	0.982
Q66.9 Congenital deformity of feet, unspecified	0.018	0.982
Q66.7 Pes cavus	0.018	0.982
Q66.6 Other congenital valgus deformities of feet	0.018	0.982
Q66.5 Congenital pes planus	0.018	0.982
Q66.4 Talipes calcaneovalgus	0.018	0.982
Q66.1 Talipes calcaneovarus	0.018	0.982
Q66.0 Talipes equinovarus	0.018	0.982
Q89 Other congenital malformations, not elsewhere classified	0.018	0.982
Q76.9 Congenital malformation of bony thorax, unspecified	0.018	0.982
Q76.8 Other congenital malformations of bony thorax	0.018	0.982
Q76.7 Congenital malformation of sternum	0.018	0.982
Q76.6 Other congenital malformations of ribs	0.018	0.982
Q76.5 Cervical rib	0.018	0.982
Q76.3 Congenital scoliosis due to congenital bony malformation	0.018	0.982
Q76.2 Congenital spondylolisthesis	0.018	0.982
Q34 Other congenital malformations of respiratory system	0.018	0.982
Q33 Congenital malformations of lung	0.018	0.982
Q32 Congenital malformations of trachea and bronchus	0.018	0.982
Q31 Congenital malformations of larynx	0.018	0.982
Q45.8 Other specified congenital malformations of digestive system	0.018	0.982
Q18 Other congenital malformations of face and neck	0.018	0.982
Q20-Q28 Congenital malformations of the circulatory system	0.018	0.982
Q82.5 Congenital nonneoplastic naevus	0.018	0.982
Q87.1 Congenital malformation syndromes predominantly associated with short stature	0.018	0.982
Q76.0 Spina bifida occulta	0.018	0.982
Q69.9 Polydactyly, unspecified	0.017	0.982
Q69.2 Accessory toe(s)	0.017	0.982
Q69.1 Accessory thumb(s)	0.017	0.982
Q69.0 Accessory finger(s)	0.017	0.982
Q70.9 Syndactyly, unspecified	0.017	0.982
Q70.4 Polysyndactyly	0.017	0.982
Q70.3 Webbed toes	0.017	0.982
Q70.2 Fused toes	0.017	0.982
Q70.1 Webbed fingers	0.017	0.982
Q70.0 Fused fingers	0.017	0.982
Q71.9 Reduction defect of upper limb, unspecified	0.017	0.982
Q71.8 Other reduction defects of upper limb(s)	0.017	0.982
Q71.6 Lobster-claw hand	0.017	0.982
Q71.5 Longitudinal reduction defect of ulna	0.017	0.982
Q71.4 Longitudinal reduction defect of radius	0.017	0.982
Q71.3 Congenital absence of hand and finger(s)	0.017	0.982
Q71.2 Congenital absence of both forearm and hand	0.017	0.982
Q71.1 Congenital absence of upper arm and forearm with hand present	0.017	0.982
Q71.0 Congenital complete absence of upper limb(s)	0.017	0.982
Q72.9 Reduction defect of lower limb, unspecified	0.017	0.982
Q72.8 Other reduction defects of lower limb(s)	0.017	0.982
Q72.7 Split foot	0.017	0.982
Q72.6 Longitudinal reduction defect of fibula	0.017	0.982
Q72.5 Longitudinal reduction defect of tibia	0.017	0.982
Q72.4 Longitudinal reduction defect of femur	0.017	0.982
Q72.3 Congenital absence of foot and toe(s)	0.017	0.982
Q72.2 Congenital absence of both lower leg and foot	0.017	0.982
Q72.1 Congenital absence of thigh and lower leg with foot present	0.017	0.982
Q72.0 Congenital complete absence of lower limb(s)	0.017	0.982
Q73.8 Other reduction defects of unspecified limb(s)	0.017	0.982
Q73.1 Phocomelia, unspecified limb(s)	0.017	0.982
Q73.0 Congenital absence of unspecified limb(s)	0.017	0.982
Q75.9 Congenital malformation of skull and face bones, unspecified	0.017	0.982
Q75.8 Other specified congenital malformations of skull and face bones	0.017	0.982
Q75.5 Oculomandibular dysostosis	0.017	0.982
Q75.4 Mandibulofacial dysostosis	0.017	0.982
Q75.3 Macrocephaly	0.017	0.982
Q75.2 Hypertelorism	0.017	0.982
Q75.1 Craniofacial dysostosis	0.017	0.982
Q75.0 Craniosynostosis	0.017	0.982
Q77.9 Osteochondrodysplasia with defects of growth of tubular bones and spine, unspecified	0.017	0.982
Q77.8 Other osteochondrodysplasia with defects of growth of tubular bones and spine	0.017	0.982
Q77.7 Spondyloepiphyseal dysplasia	0.017	0.982
Q77.6 Chondroectodermal dysplasia	0.017	0.982
Q77.5 Diastrophic dysplasia	0.017	0.982
Q77.4 Achondroplasia	0.017	0.982
Q77.3 Chondrodysplasia punctata	0.017	0.982
Q77.2 Short rib syndrome	0.017	0.982
Q77.1 Thanatophoric short stature	0.017	0.982
Q77.0 Achondrogenesis	0.017	0.982
Q66.8 Other congenital deformities of feet	0.017	0.982
Q68.5 Congenital bowing of long bones of leg, unspecified	0.017	0.983
Q68.4 Congenital bowing of tibia and fibula	0.017	0.983
Q68.3 Congenital bowing of femur	0.017	0.983
Q68.2 Congenital deformity of knee	0.017	0.983
Q68.1 Congenital deformity of hand	0.017	0.983
Q68.0 Congenital deformity of sternocleidomastoid muscle	0.017	0.983
Q99.8 Other specified chromosome abnormalities	0.017	0.983
Q87.8 Other specified congenital malformation syndromes, not elsewhere classified	0.017	0.983
Q64 Other congenital malformations of urinary system	0.017	0.983
Q36 Cleft lip	0.017	0.983
Q35 Cleft palate	0.017	0.983
Q68.8 Other specified congenital musculoskeletal deformities	0.017	0.983
Q37 Cleft palate with cleft lip	0.017	0.983
Q65.9 Congenital deformity of hip, unspecified	0.017	0.983
Q65.6 Unstable hip	0.017	0.983
Q65.5 Congenital subluxation of hip, unspecified	0.017	0.983
Q65.4 Congenital subluxation of hip, bilateral	0.017	0.983
Q65.3 Congenital subluxation of hip, unilateral	0.017	0.983
Q65.2 Congenital dislocation of hip, unspecified	0.017	0.983
Q65.1 Congenital dislocation of hip, bilateral	0.017	0.983
Q65.0 Congenital dislocation of hip, unilateral	0.017	0.983
Q15.0 Congenital glaucoma	0.017	0.983
Q30.3 Congenital perforated nasal septum	0.016	0.983
Q63 Other congenital malformations of kidney	0.016	0.984
Q82.9 Congenital malformation of skin, unspecified	0.016	0.984
Q82.4 Ectodermal dysplasia (anhidrotic)	0.016	0.984
Q82.3 Incontinentia pigmenti	0.016	0.984
Q82.1 Xeroderma pigmentosum	0.016	0.984
Q83.9 Congenital malformation of breast, unspecified	0.016	0.984
Q83.3 Accessory nipple	0.016	0.984
Q83.2 Absent nipple	0.016	0.984
Q83.0 Congenital absence of breast with absent nipple	0.016	0.984
Q87.0 Congenital malformation syndromes predominantly affecting facial appearance	0.016	0.984
Q43.0 Meckel's diverticulum	0.016	0.984
Q28 Other congenital malformations of circulatory system	0.016	0.984
Q87.5 Other congenital malformation syndromes with other skeletal changes	0.016	0.984
Q87.3 Congenital malformation syndromes involving early overgrowth	0.016	0.984
Q87.2 Congenital malformation syndromes predominantly involving limbs	0.016	0.984
Q98.4 Klinefelter's syndrome, unspecified	0.016	0.984
Q04 Other congenital malformations of brain	0.015	0.984
Q96.9 Turner's syndrome, unspecified	0.015	0.984
Q82.0 Hereditary lymphoedema	0.015	0.984
Q65.8 Other congenital deformities of hip	0.015	0.984
Q12.0 Congenital cataract	0.015	0.985
Q06 Other congenital malformations of spinal cord	0.015	0.985
Q03 Congenital hydrocephalus	0.015	0.985
Q01 Encephalocele	0.015	0.985
Q00 Anencephaly and similar malformations	0.015	0.985
Q02 Microcephaly	0.015	0.985
Q50-Q56 Congenital malformations of genital organs	0.015	0.985
Q99.9 Chromosomal abnormality, unspecified	0.015	0.985
Q99.2 Fragile X chromosome	0.015	0.985
Q99.1 46,XX true hermaphrodite	0.015	0.985
Q99.0 Chimera 46,XX/46,XY	0.015	0.985
Q62 Congenital obstructive defects of renal pelvis and congenital malformations of ureter	0.015	0.985
Q15.9 Congenital malformation of eye, unspecified	0.015	0.985
Q15.8 Other specified congenital malformations of eye	0.015	0.985
Q61 Cystic kidney disease	0.015	0.985
Q98.9 Sex chromosome abnormality, male phenotype, unspecified	0.015	0.985
Q98.8 Other specified sex chromosome abnormalities, male phenotype	0.015	0.985
Q98.7 Male with sex chromosome mosaicism	0.015	0.985
Q98.6 Male with structurally abnormal sex chromosome	0.015	0.985
Q98.5 Karyotype 47,XYY	0.015	0.985
Q98.3 Other male with 46,XX karyotype	0.015	0.985
Q98.2 Klinefelter's syndrome, male with 46,XX karyotype	0.015	0.985
Q98.1 Klinefelter's syndrome, male with more than two X chromosomes	0.015	0.985
Q98.0 Klinefelter's syndrome karyotype 47,XXY	0.015	0.985
Q96.8 Other variants of Turner's syndrome	0.014	0.985
Q96.4 Mosaicism, 45,X/other cell line(s) with abnormal sex chromosome	0.014	0.985
Q96.3 Mosaicism, 45,X/46,XX or XY	0.014	0.985
Q96.2 Karyotype 46,X with abnormal sex chromosome, except iso (Xq)	0.014	0.985
Q96.1 Karyotype 46,X iso (Xq)	0.014	0.985
Q96.0 Karyotype 45,X	0.014	0.985
Q30.9 Congenital malformation of nose, unspecified	0.014	0.985
Q30.8 Other congenital malformations of nose	0.014	0.985
Q30.2 Fissured, notched and cleft nose	0.014	0.985
Q30.1 Agenesis and underdevelopment of nose	0.014	0.985
Q30.0 Choanal atresia	0.014	0.985
Q43.1 Hirschsprung's disease	0.014	0.985
Q12.9 Congenital lens malformation, unspecified	0.014	0.986
Q12.8 Other congenital lens malformations	0.014	0.986
Q12.4 Spherophakia	0.014	0.986
Q12.3 Congenital aphakia	0.014	0.986
Q12.2 Coloboma of lens	0.014	0.986
Q12.1 Congenital displaced lens	0.014	0.986
Q43.7 Persistent cloaca	0.014	0.986
Q43.6 Congenital fistula of rectum and anus	0.014	0.986
Q43.5 Ectopic anus	0.014	0.986
Q43.4 Duplication of intestine	0.014	0.986
Q43.2 Other congenital functional disorders of colon	0.014	0.986
Q10.0 Congenital ptosis	0.014	0.986
Q14.1 Congenital malformation of retina	0.014	0.986
Q05 Spina bifida	0.014	0.986
Q22 Congenital malformations of pulmonary and tricuspid valves	0.014	0.986
Q87.4 Marfan's syndrome	0.014	0.986
Q64.7 Other congenital malformations of bladder and urethra	0.014	0.986
Q80.9 Congenital ichthyosis, unspecified	0.014	0.986
Q80.8 Other congenital ichthyosis	0.014	0.986
Q80.4 Harlequin foetus	0.014	0.986
Q80.3 Congenital bullous ichthyosiform erythroderma	0.014	0.986
Q80.2 Lamellar ichthyosis	0.014	0.986
Q80.1 X-linked ichthyosis	0.014	0.986
Q80.0 Ichthyosis vulgaris	0.014	0.986
Q81.9 Epidermolysis bullosa, unspecified	0.014	0.986
Q81.8 Other epidermolysis bullosa	0.014	0.986
Q81.2 Epidermolysis bullosa dystrophica	0.014	0.986
Q81.1 Epidermolysis bullosa letalis	0.014	0.986
Q81.0 Epidermolysis bullosa simplex	0.014	0.986
Q84.9 Congenital malformation of integument, unspecified	0.014	0.986
Q84.8 Other specified congenital malformations of integument	0.014	0.986
Q84.6 Other congenital malformations of nails	0.014	0.986
Q84.5 Enlarged and hypertrophic nails	0.014	0.986
Q84.4 Congenital leukonychia	0.014	0.986
Q84.3 Anonychia	0.014	0.986
Q84.2 Other congenital malformations of hair	0.014	0.986
Q84.1 Congenital morphological disturbances of hair, not elsewhere classified	0.014	0.986
Q84.0 Congenital alopecia	0.014	0.986
Q86.8 Other congenital malformation syndromes due to known exogenous causes	0.014	0.986
Q86.2 Dysmorphism due to warfarin	0.014	0.986
Q86.1 Foetal hydantoin syndrome	0.014	0.986
Q86.0 Foetal alcohol syndrome (dysmorphic)	0.014	0.986
Q60 Renal agenesis and other reduction defects of kidney	0.014	0.986
Q07 Other congenital malformations of nervous system	0.014	0.986
Q10.7 Congenital malformation of orbit	0.014	0.986
Q10.6 Other congenital malformations of lachrymal apparatus	0.014	0.986
Q10.5 Congenital stenosis and stricture of lachrymal duct	0.014	0.986
Q10.4 Absence and agenesis of lachrymal apparatus	0.014	0.986
Q10.3 Other congenital malformations of eyelid	0.014	0.986
Q10.2 Congenital entropion	0.014	0.986
Q10.1 Congenital ectropion	0.014	0.986
Q90.9 Down's syndrome, unspecified	0.014	0.986
Q90.2 Trisomy 21, translocation	0.014	0.986
Q90.1 Trisomy 21, mosaicism (mitotic nondisjunction)	0.014	0.986
Q90.0 Trisomy 21, meiotic nondisjunction	0.014	0.986
Q91.7 Patau's syndrome, unspecified	0.014	0.986
Q91.6 Trisomy 13, translocation	0.014	0.986
Q91.5 Trisomy 13, mosaicism (mitotic nondisjunction)	0.014	0.986
Q91.4 Trisomy 13, meiotic nondisjunction	0.014	0.986
Q91.3 Edwards' syndrome, unspecified	0.014	0.986
Q91.2 Trisomy 18, translocation	0.014	0.986
Q91.1 Trisomy 18, mosaicism (mitotic nondisjunction)	0.014	0.986
Q91.0 Trisomy 18, meiotic nondisjunction	0.014	0.986
Q92.9 Trisomy and partial trisomy of autosomes, unspecified	0.014	0.986
Q92.8 Other specified trisomies and partial trisomies of autosomes	0.014	0.986
Q92.7 Triploidy and polyploidy	0.014	0.986
Q92.6 Extra marker chromosomes	0.014	0.986
Q92.5 Duplications with other complex rearrangements	0.014	0.986
Q92.4 Duplications seen only at prometaphase	0.014	0.986
Q92.3 Minor partial trisomy	0.014	0.986
Q92.2 Major partial trisomy	0.014	0.986
Q92.1 Whole chromosome trisomy, mosaicism (mitotic nondisjunction)	0.014	0.986
Q92.0 Whole chromosome trisomy, meiotic nondisjunction	0.014	0.986
Q93.9 Deletion from autosomes, unspecified	0.014	0.986
Q93.8 Other deletions from the autosomes	0.014	0.986
Q93.7 Deletions with other complex rearrangements	0.014	0.986
Q93.6 Deletions seen only at prometaphase	0.014	0.986
Q93.5 Other deletions of part of a chromosome	0.014	0.986
Q93.4 Deletion of short arm of chromosome 5	0.014	0.986
Q93.3 Deletion of short arm of chromosome 4	0.014	0.986
Q93.2 Chromosome replaced with ring or dicentric	0.014	0.986
Q93.1 Whole chromosome monosomy, mosaicism (mitotic nondisjunction)	0.014	0.986
Q93.0 Whole chromosome monosomy, meiotic nondisjunction	0.014	0.986
Q95.9 Balanced rearrangement and structural marker, unspecified	0.014	0.986
Q95.8 Other balanced rearrangements and structural markers	0.014	0.986
Q95.5 Individuals with autosomal fragile site	0.014	0.986
Q95.4 Individuals with marker heterochromatin	0.014	0.986
Q95.3 Balanced sex/autosomal rearrangement in abnormal individual	0.014	0.986
Q95.2 Balanced autosomal rearrangement in abnormal individual	0.014	0.986
Q95.1 Chromosome inversion in normal individual	0.014	0.986
Q95.0 Balanced translocation and insertion in normal individual	0.014	0.986
Q97.9 Sex chromosome abnormality, female phenotype, unspecified	0.014	0.986
Q97.8 Other specified sex chromosome abnormalities, female phenotype	0.014	0.986
Q97.3 Female with 46,XY karyotype	0.014	0.986
Q97.2 Mosaicism, lines with various numbers of X chromosomes	0.014	0.986
Q97.1 Female with more than three X chromosomes	0.014	0.986
Q97.0 Karyotype 47,XXX	0.014	0.986
Q14.9 Congenital malformation of posterior segment of eye, unspecified	0.014	0.986
Q14.8 Other congenital malformations of posterior segment of eye	0.014	0.986
Q14.3 Congenital malformation of choroid	0.014	0.986
Q14.2 Congenital malformation of optic disk	0.014	0.986
Q14.0 Congenital malformation of vitreous humour	0.014	0.986
S92.30 Fracture of metatarsal bone (closed)	0.014	0.986
Q25 Congenital malformations of great arteries	0.014	0.986
Q76.4 Other congenital malformations of spine, not associated with scoliosis	0.014	0.986
Q28.2 Arteriovenous malformation of cerebral vessels	0.014	0.986
Q11.3 Macrophthalmos	0.014	0.986
Q11.2 Microphthalmos	0.014	0.986
Q11.1 Other anophthalmos	0.014	0.986
Q11.0 Cystic eyeball	0.014	0.986
Q13.9 Congenital malformation of anterior segment of eye, unspecified	0.014	0.986
Q13.8 Other congenital malformations of anterior segment of eye	0.014	0.986
Q13.5 Blue sclera	0.014	0.986
Q13.4 Other congenital corneal malformations	0.014	0.986
Q13.3 Congenital corneal opacity	0.014	0.986
Q13.2 Other congenital malformations of iris	0.014	0.986
Q13.1 Absence of iris	0.014	0.986
Q13.0 Coloboma of iris	0.014	0.986
Q16.9 Congenital malformation of ear causing impairment of hearing, unspecified	0.014	0.986
Q16.5 Congenital malformation of inner ear	0.014	0.986
Q16.4 Other congenital malformations of middle ear	0.014	0.986
Q16.3 Congenital malformation of ear ossicles	0.014	0.986
Q16.2 Absence of eustachian tube	0.014	0.986
Q16.1 Congenital absence, atresia and stricture of auditory canal (external)	0.014	0.986
Q16.0 Congenital absence of (ear) auricle	0.014	0.986
Q17.9 Congenital malformation of ear, unspecified	0.014	0.986
Q17.8 Other specified congenital malformations of ear	0.014	0.986
Q17.5 Prominent ear	0.014	0.986
Q17.4 Misplaced ear	0.014	0.986
Q17.3 Other misshapen ear	0.014	0.986
Q17.2 Microtia	0.014	0.986
Q17.1 Macrotia	0.014	0.986
Q17.0 Accessory auricle	0.014	0.986
Q18.1 Preauricular sinus and cyst	0.014	0.986
Q85 Phakomatoses, not elsewhere classified	0.013	0.986
Q63.2 Ectopic kidney	0.014	0.986
Q82.8 Other specified congenital malformations of skin	0.013	0.986
Q43.9 Congenital malformation of intestine, unspecified	0.013	0.987
Q89.9 Congenital malformation, unspecified	0.013	0.987
Q89.8 Other specified congenital malformations	0.013	0.987
Q89.7 Multiple congenital malformations, not elsewhere classified	0.013	0.987
Q89.4 Conjoined twins	0.013	0.987
Q89.3 Situs inversus	0.013	0.987
Q89.1 Congenital malformations of adrenal gland	0.013	0.987
Q89.0 Congenital malformations of spleen	0.013	0.987
Q31.9 Congenital malformation of larynx, unspecified	0.013	0.987
Q31.8 Other congenital malformations of larynx	0.013	0.987
Q31.5 Congenital laryngomalacia	0.013	0.987
Q31.4 Congenital laryngeal stridor	0.013	0.987
Q31.3 Laryngocele	0.013	0.987
Q31.2 Laryngeal hypoplasia	0.013	0.987
Q31.1 Congenital subglottic stenosis	0.013	0.987
Q31.0 Web of larynx	0.013	0.987
Q32.4 Other congenital malformations of bronchus	0.013	0.987
Q32.3 Congenital stenosis of bronchus	0.013	0.987
Q32.2 Congenital bronchomalacia	0.013	0.987
Q32.1 Other congenital malformations of trachea	0.013	0.987
Q32.0 Congenital tracheomalacia	0.013	0.987
Q33.9 Congenital malformation of lung, unspecified	0.013	0.987
Q33.8 Other congenital malformations of lung	0.013	0.987
Q33.6 Hypoplasia and dysplasia of lung	0.013	0.987
Q33.5 Ectopic tissue in lung	0.013	0.987
Q33.4 Congenital bronchiectasis	0.013	0.987
Q33.3 Agenesis of lung	0.013	0.987
Q33.2 Sequestration of lung	0.013	0.987
Q33.1 Accessory lobe of lung	0.013	0.987
Q33.0 Congenital cystic lung	0.013	0.987
Q34.9 Congenital malformation of respiratory system, unspecified	0.013	0.987
Q34.8 Other specified congenital malformations of respiratory system	0.013	0.987
Q34.1 Congenital cyst of mediastinum	0.013	0.987
Q34.0 Anomaly of pleura	0.013	0.987
Q18.9 Congenital malformation of face and neck, unspecified	0.013	0.987
Q18.8 Other specified congenital malformations of face and neck	0.013	0.987
Q18.7 Microcheilia	0.013	0.987
Q18.6 Macrocheilia	0.013	0.987
Q18.5 Microstomia	0.013	0.987
Q18.4 Macrostomia	0.013	0.987
Q18.3 Webbing of neck	0.013	0.987
Q18.2 Other branchial cleft malformations	0.013	0.987
Q83.8 Other congenital malformations of breast	0.013	0.987
Q26 Congenital malformations of great veins	0.013	0.987
Q20 Congenital malformations of cardiac chambers and connexions	0.013	0.987
Q28.0 Arteriovenous malformation of precerebral vessels	0.013	0.987
Q43.3 Congenital malformations of intestinal fixation	0.012	0.987
M45.X9 Ankylosing spondylitis (Site unspecified)	0.013	0.987
S92.3 Fracture of metatarsal bone	0.013	0.987
Q64.9 Congenital malformation of urinary system, unspecified	0.012	0.988
Q64.8 Other specified congenital malformations of urinary system	0.012	0.988
Q64.6 Congenital diverticulum of bladder	0.012	0.988
Q64.5 Congenital absence of bladder and urethra	0.012	0.988
Q64.4 Malformation of urachus	0.012	0.988
Q64.2 Congenital posterior urethral valves	0.012	0.988
Q64.1 Exstrophy of urinary bladder	0.012	0.988
Q64.0 Epispadias	0.012	0.988
Q35.9 Cleft palate, unspecified	0.012	0.988
Q35.8 (Cleft palate, unspecified, bilateral)	0.012	0.988
Q35.7 Cleft uvula	0.012	0.988
Q35.6 Cleft palate, medial	0.012	0.988
Q35.5 Cleft hard palate with cleft soft palate	0.012	0.988
Q35.4 (Cleft hard palate with cleft soft palate, bilateral)	0.012	0.988

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.

Variant-specific associations