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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

rs293526
log Bayes Factor = 0.0321656
Chromosome 6   position 83,648,056  (GRCh37) Explore rs293526 on Ensembl!
Variant rs293526 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
  
Q76.0 Spina bifida occulta
0.000 0.809 0.191
Q76 Congenital malformations of spine and bony thorax
0.000 0.812 0.188
Q65-Q79 Congenital malformations and deformations of the musculoskeletal system
0.000 0.812 0.188
Q65 Congenital deformities of hip
0.000 0.829 0.171
Q66 Congenital deformities of feet
0.000 0.833 0.167
Q65.8 Other congenital deformities of hip
0.000 0.846 0.154
Q79 Congenital malformations of musculoskeletal system, not elsewhere classified
0.000 0.848 0.152
Q78 Other osteochondrodysplasias
0.000 0.851 0.149
Q67 Congenital musculoskeletal deformities of head, face, spine and chest
0.000 0.853 0.147
Chapter XVII Congenital malformations, deformations and chromosomal abnormalities
0.000 0.853 0.147
Q68 Other congenital musculoskeletal deformities
0.000 0.855 0.145
Q66.3 Other congenital varus deformities of feet
0.000 0.855 0.145
Q76.4 Other congenital malformations of spine, not associated with scoliosis
0.000 0.856 0.144
Q70 Syndactyly
0.000 0.857 0.143
Q76.1 Klippel-Feil syndrome
0.000 0.860 0.140
Q65.2 Congenital dislocation of hip, unspecified
0.000 0.861 0.139
Q76.9 Congenital malformation of bony thorax, unspecified
0.000 0.865 0.135
Q76.8 Other congenital malformations of bony thorax
0.000 0.865 0.135
Q76.7 Congenital malformation of sternum
0.000 0.865 0.135
Q76.6 Other congenital malformations of ribs
0.000 0.865 0.135
Q76.3 Congenital scoliosis due to congenital bony malformation
0.000 0.865 0.135
Q76.2 Congenital spondylolisthesis
0.000 0.865 0.135
Q73 Reduction defects of unspecified limb
0.000 0.865 0.135
Q72 Reduction defects of lower limb
0.000 0.865 0.135
Q71 Reduction defects of upper limb
0.000 0.865 0.135
Q69 Polydactyly
0.000 0.865 0.135
Q75 Other congenital malformations of skull and face bones
0.000 0.868 0.132
Q66.8 Other congenital deformities of feet
0.000 0.868 0.132
Q10-Q18 Congenital malformations of eye, ear, face and neck
0.000 0.868 0.132
Q79.6 Ehlers-Danlos syndrome
0.000 0.870 0.130
Q66.0 Talipes equinovarus
0.000 0.872 0.128
Q20-Q28 Congenital malformations of the circulatory system
0.000 0.872 0.128
Q77 Osteochondrodysplasia with defects of growth of tubular bones and spine
0.000 0.873 0.126
Q65.1 Congenital dislocation of hip, bilateral
0.000 0.874 0.126
Q90-Q99 Chromosomal abnormalities, not elsewhere classified
0.000 0.874 0.126
Q66.9 Congenital deformity of feet, unspecified
0.000 0.876 0.124
Q65.6 Unstable hip
0.000 0.877 0.123
Q65.5 Congenital subluxation of hip, unspecified
0.000 0.877 0.123
Q65.4 Congenital subluxation of hip, bilateral
0.000 0.877 0.123
Q65.3 Congenital subluxation of hip, unilateral
0.000 0.877 0.123
Q65.0 Congenital dislocation of hip, unilateral
0.000 0.877 0.123
Q00-Q07 Congenital malformations of the nervous system
0.000 0.879 0.121
Q78.0 Osteogenesis imperfecta
0.000 0.879 0.121
Q66.6 Other congenital valgus deformities of feet
0.000 0.879 0.120
Q66.5 Congenital pes planus
0.000 0.880 0.120
Q66.4 Talipes calcaneovalgus
0.000 0.880 0.120
Q66.1 Talipes calcaneovarus
0.000 0.880 0.120
Q65.9 Congenital deformity of hip, unspecified
0.000 0.881 0.119
Q76.5 Cervical rib
0.000 0.881 0.119
Q79.1 Other congenital malformations of diaphragm
0.000 0.884 0.116
Q66.2 Metatarsus varus
0.000 0.884 0.116
Q28 Other congenital malformations of circulatory system
0.000 0.884 0.116
Q74 Other congenital malformations of limb(s)
0.000 0.884 0.116
Q67.6 Pectus excavatum
0.000 0.885 0.115
Q68.8 Other specified congenital musculoskeletal deformities
0.000 0.885 0.114
Q66.7 Pes cavus
0.000 0.887 0.113
Q60-Q64 Congenital malformations of the urinary system
0.000 0.887 0.113
Q30-Q34 Congenital malformations of the respiratory system
0.000 0.888 0.112
Q27 Other congenital malformations of peripheral vascular system
0.000 0.889 0.111
Q17 Other congenital malformations of ear
0.000 0.889 0.111
Q18 Other congenital malformations of face and neck
0.000 0.889 0.111
Q70.3 Webbed toes
0.000 0.889 0.110
Q67.5 Congenital deformity of spine
0.000 0.890 0.110
Q79.0 Congenital diaphragmatic hernia
0.000 0.890 0.109
Q35-Q37 Cleft lip and cleft palate
0.000 0.891 0.109
Q79.9 Congenital malformation of musculoskeletal system, unspecified
0.000 0.891 0.109
Q79.5 Other congenital malformations of abdominal wall
0.000 0.891 0.109
Q79.4 Prune belly syndrome
0.000 0.891 0.109
Q79.3 Gastroschisis
0.000 0.891 0.109
Q79.2 Exomphalos
0.000 0.891 0.109
Q24 Other congenital malformations of heart
0.000 0.891 0.109
Q78.2 Osteopetrosis
0.000 0.893 0.107
Q78.9 Osteochondrodysplasia, unspecified
0.000 0.893 0.107
Q78.8 Other specified osteochondrodysplasias
0.000 0.893 0.107
Q78.6 Multiple congenital exostoses
0.000 0.893 0.107
Q78.5 Metaphyseal dysplasia
0.000 0.893 0.107
Q78.4 Enchondromatosis
0.000 0.893 0.107
Q78.3 Progressive diaphyseal dysplasia
0.000 0.893 0.107
Q78.1 Polyostotic fibrous dysplasia
0.000 0.893 0.107
Q67.8 Other congenital deformities of chest
0.000 0.894 0.106
Q67.7 Pectus carinatum
0.000 0.894 0.106
Q67.3 Plagiocephaly
0.000 0.894 0.106
Q67.2 Dolichocephaly
0.000 0.894 0.106
Q67.1 Compression facies
0.000 0.894 0.106
Q67.0 Facial asymmetry
0.000 0.894 0.106
Q99 Other chromosome abnormalities, not elsewhere classified
0.000 0.895 0.105
Q67.4 Other congenital deformities of skull, face and jaw
0.000 0.895 0.105
Q05 Spina bifida
0.000 0.896 0.104
Q68.5 Congenital bowing of long bones of leg, unspecified
0.000 0.896 0.104
Q68.4 Congenital bowing of tibia and fibula
0.000 0.896 0.104
Q68.3 Congenital bowing of femur
0.000 0.896 0.104
Q68.2 Congenital deformity of knee
0.000 0.896 0.104
Q68.1 Congenital deformity of hand
0.000 0.896 0.104
Q68.0 Congenital deformity of sternocleidomastoid muscle
0.000 0.896 0.104
Q80-Q89 Other congenital malformations
0.000 0.896 0.104
Q70.9 Syndactyly, unspecified
0.000 0.897 0.102
Q70.4 Polysyndactyly
0.000 0.897 0.102
Q70.2 Fused toes
0.000 0.897 0.102
Q70.1 Webbed fingers
0.000 0.897 0.102
Q70.0 Fused fingers
0.000 0.897 0.102
Q11 Anophthalmos, microphthalmos and macrophthalmos
0.000 0.898 0.102
Q22 Congenital malformations of pulmonary and tricuspid valves
0.000 0.899 0.101
Q96 Turner's syndrome
0.000 0.901 0.099
Q14 Congenital malformations of posterior segment of eye
0.000 0.903 0.097
Q28.3 Other malformations of cerebral vessels
0.000 0.903 0.097
Q98 Other sex chromosome abnormalities, male phenotype, not elsewhere classified
0.000 0.903 0.097
Q69.9 Polydactyly, unspecified
0.000 0.903 0.097
Q69.2 Accessory toe(s)
0.000 0.903 0.097
Q69.1 Accessory thumb(s)
0.000 0.903 0.097
Q69.0 Accessory finger(s)
0.000 0.903 0.097
Q71.9 Reduction defect of upper limb, unspecified
0.000 0.903 0.097
Q71.8 Other reduction defects of upper limb(s)
0.000 0.903 0.097
Q71.6 Lobster-claw hand
0.000 0.903 0.097
Q71.5 Longitudinal reduction defect of ulna
0.000 0.903 0.097
Q71.4 Longitudinal reduction defect of radius
0.000 0.903 0.097
Q71.3 Congenital absence of hand and finger(s)
0.000 0.903 0.097
Q71.2 Congenital absence of both forearm and hand
0.000 0.903 0.097
Q71.1 Congenital absence of upper arm and forearm with hand present
0.000 0.903 0.097
Q71.0 Congenital complete absence of upper limb(s)
0.000 0.903 0.097
Q72.9 Reduction defect of lower limb, unspecified
0.000 0.903 0.097
Q72.8 Other reduction defects of lower limb(s)
0.000 0.903 0.097
Q72.7 Split foot
0.000 0.903 0.097
Q72.6 Longitudinal reduction defect of fibula
0.000 0.903 0.097
Q72.5 Longitudinal reduction defect of tibia
0.000 0.903 0.097
Q72.4 Longitudinal reduction defect of femur
0.000 0.903 0.097
Q72.3 Congenital absence of foot and toe(s)
0.000 0.903 0.097
Q72.2 Congenital absence of both lower leg and foot
0.000 0.903 0.097
Q72.1 Congenital absence of thigh and lower leg with foot present
0.000 0.903 0.097
Q72.0 Congenital complete absence of lower limb(s)
0.000 0.903 0.097
Q73.8 Other reduction defects of unspecified limb(s)
0.000 0.903 0.097
Q73.1 Phocomelia, unspecified limb(s)
0.000 0.903 0.097
Q73.0 Congenital absence of unspecified limb(s)
0.000 0.903 0.097
Q17.5 Prominent ear
0.000 0.903 0.097
Q18.0 Sinus, fistula and cyst of branchial cleft
0.000 0.903 0.097
Q64 Other congenital malformations of urinary system
0.000 0.904 0.096
Q28.0 Arteriovenous malformation of precerebral vessels
0.000 0.904 0.096
Q27.9 Congenital malformation of peripheral vascular system, unspecified
0.000 0.905 0.095
Q75.9 Congenital malformation of skull and face bones, unspecified
0.000 0.905 0.095
Q75.8 Other specified congenital malformations of skull and face bones
0.000 0.905 0.095
Q75.5 Oculomandibular dysostosis
0.000 0.905 0.095
Q75.3 Macrocephaly
0.000 0.905 0.095
Q75.2 Hypertelorism
0.000 0.905 0.095
Q75.1 Craniofacial dysostosis
0.000 0.905 0.095
Q75.0 Craniosynostosis
0.000 0.905 0.095
Q16 Congenital malformations of ear causing impairment of hearing
0.000 0.905 0.094
Q13 Congenital malformations of anterior segment of eye
0.000 0.905 0.094
Q61 Cystic kidney disease
0.000 0.906 0.094
Q10 Congenital malformations of eyelid, lachrymal apparatus and orbit
0.000 0.907 0.093
Q26 Congenital malformations of great veins
0.000 0.907 0.093
Q12 Congenital lens malformations
0.000 0.907 0.093
Q89 Other congenital malformations, not elsewhere classified
0.000 0.908 0.092
Q28.2 Arteriovenous malformation of cerebral vessels
0.000 0.908 0.092
Q75.4 Mandibulofacial dysostosis
0.000 0.908 0.092
Q20 Congenital malformations of cardiac chambers and connexions
0.000 0.908 0.092
Q79.8 Other congenital malformations of musculoskeletal system
0.000 0.909 0.091
Q77.9 Osteochondrodysplasia with defects of growth of tubular bones and spine, unspecified
0.000 0.909 0.091
Q77.8 Other osteochondrodysplasia with defects of growth of tubular bones and spine
0.000 0.909 0.091
Q77.7 Spondyloepiphyseal dysplasia
0.000 0.909 0.091
Q77.6 Chondroectodermal dysplasia
0.000 0.909 0.091
Q77.5 Diastrophic dysplasia
0.000 0.909 0.091
Q77.3 Chondrodysplasia punctata
0.000 0.909 0.091
Q77.2 Short rib syndrome
0.000 0.909 0.091
Q77.1 Thanatophoric short stature
0.000 0.909 0.091
Q77.0 Achondrogenesis
0.000 0.909 0.091
Q97 Other sex chromosome abnormalities, female phenotype, not elsewhere classified
0.000 0.909 0.091
Q95 Balanced rearrangements and structural markers, not elsewhere classified
0.000 0.909 0.091
Q93 Monosomies and deletions from the autosomes, not elsewhere classified
0.000 0.909 0.091
Q92 Other trisomies and partial trisomies of the autosomes, not elsewhere classified
0.000 0.909 0.091
Q91 Edwards' syndrome and Patau's syndrome
0.000 0.909 0.091
Q99.8 Other specified chromosome abnormalities
0.000 0.910 0.090
Q24.8 Other specified congenital malformations of heart
0.000 0.911 0.089
Q24.5 Malformation of coronary vessels
0.000 0.911 0.089
Q31 Congenital malformations of larynx
0.000 0.912 0.088
Q07 Other congenital malformations of nervous system
0.000 0.912 0.088
Q24.0 Dextrocardia
0.000 0.912 0.088
Q05.9 Spina bifida, unspecified
0.000 0.912 0.087
Q01 Encephalocele
0.000 0.913 0.087
Q00 Anencephaly and similar malformations
0.000 0.913 0.087
Q02 Microcephaly
0.000 0.913 0.087
Q03 Congenital hydrocephalus
0.000 0.913 0.087
Q90 Down's syndrome
0.000 0.913 0.086
Q06 Other congenital malformations of spinal cord
0.000 0.914 0.086
Q89.2 Congenital malformations of other endocrine glands
0.000 0.915 0.085
Q15 Other congenital malformations of eye
0.000 0.915 0.085
Q27.8 Other specified congenital malformations of peripheral vascular system
0.000 0.915 0.084
Q35 Cleft palate
0.000 0.915 0.084
Q04 Other congenital malformations of brain
0.000 0.915 0.084
Q27.3 Peripheral arteriovenous malformation
0.000 0.916 0.084
Q28.9 Congenital malformation of circulatory system, unspecified
0.000 0.917 0.083
Q28.8 Other specified congenital malformations of circulatory system
0.000 0.917 0.083
Q28.1 Other malformations of precerebral vessels
0.000 0.917 0.083
Q74.9 Unspecified congenital malformation of limb(s)
0.000 0.917 0.083
Q74.8 Other specified congenital malformations of limb(s)
0.000 0.917 0.083
Q74.3 Arthrogryposis multiplex congenita
0.000 0.917 0.083
Q77.4 Achondroplasia
0.000 0.917 0.082
Q61.3 Polycystic kidney, unspecified
0.000 0.917 0.083
Q05.4 Unspecified spina bifida with hydrocephalus
0.000 0.918 0.082
Q22.5 Ebstein's anomaly
0.000 0.918 0.082
Q63 Other congenital malformations of kidney
0.000 0.919 0.081
Q11.1 Other anophthalmos
0.000 0.919 0.081
Q87 Other specified congenital malformation syndromes affecting multiple systems
0.000 0.919 0.081
Q27.1 Congenital renal artery stenosis
0.000 0.919 0.081
Q74.1 Congenital malformation of knee
0.000 0.919 0.081
Q74.0 Other congenital malformations of upper limb(s), including shoulder girdle
0.000 0.919 0.080
Q34 Other congenital malformations of respiratory system
0.000 0.919 0.080
Q33 Congenital malformations of lung
0.000 0.919 0.080
Q32 Congenital malformations of trachea and bronchus
0.000 0.919 0.080
Q18.1 Preauricular sinus and cyst
0.000 0.920 0.080
Q27.4 Congenital phlebectasia
0.000 0.920 0.080
Q27.2 Other congenital malformations of renal artery
0.000 0.920 0.080
Q27.0 Congenital absence and hypoplasia of umbilical artery
0.000 0.920 0.080
Q17.9 Congenital malformation of ear, unspecified
0.000 0.920 0.080
Q17.8 Other specified congenital malformations of ear
0.000 0.920 0.080
Q17.4 Misplaced ear
0.000 0.920 0.080
Q17.3 Other misshapen ear
0.000 0.920 0.080
Q17.2 Microtia
0.000 0.920 0.080
Q17.1 Macrotia
0.000 0.920 0.080
Q17.0 Accessory auricle
0.000 0.920 0.080
Q18.9 Congenital malformation of face and neck, unspecified
0.000 0.920 0.080
Q18.8 Other specified congenital malformations of face and neck
0.000 0.920 0.080
Q18.7 Microcheilia
0.000 0.920 0.080
Q18.6 Macrocheilia
0.000 0.920 0.080
Q18.5 Microstomia
0.000 0.920 0.080
Q18.4 Macrostomia
0.000 0.920 0.080
Q18.3 Webbing of neck
0.000 0.920 0.080
Q18.2 Other branchial cleft malformations
0.000 0.920 0.080
Q96.9 Turner's syndrome, unspecified
0.000 0.921 0.079
Q64.4 Malformation of urachus
0.000 0.921 0.079
Q85 Phakomatoses, not elsewhere classified
0.000 0.921 0.079
Q36 Cleft lip
0.000 0.921 0.079
Q30 Congenital malformations of nose
0.000 0.922 0.078
Q24.3 Pulmonary infundibular stenosis
0.000 0.922 0.078
Q24.2 Cor triatriatum
0.000 0.922 0.078
Q24.1 Levocardia
0.000 0.922 0.078
Q24.6 Congenital heart block
0.000 0.923 0.077
Q05.7 Lumbar spina bifida without hydrocephalus
0.000 0.924 0.076
Q98.4 Klinefelter's syndrome, unspecified
0.000 0.924 0.076
Q37 Cleft palate with cleft lip
0.000 0.924 0.076
Q99.9 Chromosomal abnormality, unspecified
0.000 0.924 0.076
Q99.2 Fragile X chromosome
0.000 0.924 0.076
Q99.1 46,XX true hermaphrodite
0.000 0.924 0.076
Q99.0 Chimera 46,XX/46,XY
0.000 0.924 0.076
Q64.3 Other atresia and stenosis of urethra and bladder neck
0.000 0.925 0.075
Q05.8 Sacral spina bifida without hydrocephalus
0.000 0.925 0.075
Q05.6 Thoracic spina bifida without hydrocephalus
0.000 0.925 0.075
Q05.5 Cervical spina bifida without hydrocephalus
0.000 0.925 0.075
Q05.3 Sacral spina bifida with hydrocephalus
0.000 0.925 0.075
Q05.2 Lumbar spina bifida with hydrocephalus
0.000 0.925 0.075
Q05.1 Thoracic spina bifida with hydrocephalus
0.000 0.925 0.075
Q05.0 Cervical spina bifida with hydrocephalus
0.000 0.925 0.075
Q86 Congenital malformation syndromes due to known exogenous causes, not elsewhere classified
0.000 0.925 0.075
Q84 Other congenital malformations of integument
0.000 0.925 0.075
Q81 Epidermolysis bullosa
0.000 0.925 0.075
Q22.1 Congenital pulmonary valve stenosis
0.000 0.926 0.074
Q24.4 Congenital subaortic stenosis
0.000 0.926 0.074
Q11.3 Macrophthalmos
0.000 0.926 0.073
Q11.2 Microphthalmos
0.000 0.926 0.073
Q11.0 Cystic eyeball
0.000 0.926 0.073
Q22.9 Congenital malformation of tricuspid valve, unspecified
0.000 0.927 0.073
Q22.8 Other congenital malformations of tricuspid valve
0.000 0.927 0.073
Q22.6 Hypoplastic right heart syndrome
0.000 0.927 0.073
Q22.4 Congenital tricuspid stenosis
0.000 0.927 0.073
Q22.3 Other congenital malformations of pulmonary valve
0.000 0.927 0.073
Q22.2 Congenital pulmonary valve insufficiency
0.000 0.927 0.073
Q22.0 Pulmonary valve atresia
0.000 0.927 0.073
Q61.5 Medullary cystic kidney
0.000 0.927 0.073
Q14.1 Congenital malformation of retina
0.000 0.927 0.072
Q74.2 Other congenital malformations of lower limb(s), including pelvic girdle
0.000 0.929 0.071
Q80 Congenital ichthyosis
0.000 0.929 0.071
Q96.8 Other variants of Turner's syndrome
0.000 0.929 0.071
Q96.4 Mosaicism, 45,X/other cell line(s) with abnormal sex chromosome
0.000 0.929 0.071
Q96.3 Mosaicism, 45,X/46,XX or XY
0.000 0.929 0.071
Q96.2 Karyotype 46,X with abnormal sex chromosome, except iso (Xq)
0.000 0.929 0.071
Q96.1 Karyotype 46,X iso (Xq)
0.000 0.929 0.071
Q96.0 Karyotype 45,X
0.000 0.929 0.071
Q64.7 Other congenital malformations of bladder and urethra
0.000 0.929 0.071
Q23 Congenital malformations of aortic and mitral valves
0.000 0.929 0.070
Q14.9 Congenital malformation of posterior segment of eye, unspecified
0.000 0.930 0.070
Q14.8 Other congenital malformations of posterior segment of eye
0.000 0.930 0.070
Q14.3 Congenital malformation of choroid
0.000 0.930 0.070
Q14.2 Congenital malformation of optic disk
0.000 0.930 0.070
Q14.0 Congenital malformation of vitreous humour
0.000 0.930 0.070
Q98.9 Sex chromosome abnormality, male phenotype, unspecified
0.000 0.930 0.070
Q98.8 Other specified sex chromosome abnormalities, male phenotype
0.000 0.930 0.070
Q98.7 Male with sex chromosome mosaicism
0.000 0.930 0.070
Q98.6 Male with structurally abnormal sex chromosome
0.000 0.930 0.070
Q98.5 Karyotype 47,XYY
0.000 0.930 0.070
Q98.3 Other male with 46,XX karyotype
0.000 0.930 0.070
Q98.2 Klinefelter's syndrome, male with 46,XX karyotype
0.000 0.930 0.070
Q98.1 Klinefelter's syndrome, male with more than two X chromosomes
0.000 0.930 0.070
Q98.0 Klinefelter's syndrome karyotype 47,XXY
0.000 0.930 0.070
Q64.9 Congenital malformation of urinary system, unspecified
0.000 0.931 0.069
Q64.8 Other specified congenital malformations of urinary system
0.000 0.931 0.069
Q64.6 Congenital diverticulum of bladder
0.000 0.931 0.069
Q64.5 Congenital absence of bladder and urethra
0.000 0.931 0.069
Q64.2 Congenital posterior urethral valves
0.000 0.931 0.069
Q64.1 Exstrophy of urinary bladder
0.000 0.931 0.069
Q64.0 Epispadias
0.000 0.931 0.069
Q26.4 Anomalous pulmonary venous connexion, unspecified
0.000 0.931 0.069
Q87.0 Congenital malformation syndromes predominantly affecting facial appearance
0.000 0.932 0.068
Q31.0 Web of larynx
0.000 0.932 0.068
Q13.9 Congenital malformation of anterior segment of eye, unspecified
0.000 0.932 0.068
Q13.8 Other congenital malformations of anterior segment of eye
0.000 0.932 0.068
Q13.5 Blue sclera
0.000 0.932 0.068
Q13.4 Other congenital corneal malformations
0.000 0.932 0.068
Q13.3 Congenital corneal opacity
0.000 0.932 0.068
Q13.2 Other congenital malformations of iris
0.000 0.932 0.068
Q13.1 Absence of iris
0.000 0.932 0.068
Q13.0 Coloboma of iris
0.000 0.932 0.068
Q16.9 Congenital malformation of ear causing impairment of hearing, unspecified
0.000 0.932 0.068
Q16.5 Congenital malformation of inner ear
0.000 0.932 0.068
Q16.4 Other congenital malformations of middle ear
0.000 0.932 0.068
Q16.3 Congenital malformation of ear ossicles
0.000 0.932 0.068
Q16.2 Absence of eustachian tube
0.000 0.932 0.068
Q16.1 Congenital absence, atresia and stricture of auditory canal (external)
0.000 0.932 0.068
Q16.0 Congenital absence of (ear) auricle
0.000 0.932 0.068
Q07.0 Arnold-Chiari syndrome
0.000 0.932 0.068
Q61.8 Other cystic kidney diseases
0.000 0.932 0.068
Q61.1 Polycystic kidney, infantile type
0.000 0.932 0.068
Q31.3 Laryngocele
0.000 0.932 0.067
Q24.9 Congenital malformation of the heart, unspecified
0.000 0.932 0.067
Q85.0 Neurofibromatosis (nonmalignant)
0.000 0.933 0.067
Q10.7 Congenital malformation of orbit
0.000 0.933 0.067
Q10.6 Other congenital malformations of lachrymal apparatus
0.000 0.933 0.067
Q10.5 Congenital stenosis and stricture of lachrymal duct
0.000 0.933 0.067
Q10.4 Absence and agenesis of lachrymal apparatus
0.000 0.933 0.067
Q10.3 Other congenital malformations of eyelid
0.000 0.933 0.067
Q10.2 Congenital entropion
0.000 0.933 0.067
Q10.1 Congenital ectropion
0.000 0.933 0.067
Q26.9 Congenital malformation of great vein, unspecified
0.000 0.933 0.067
Q26.8 Other congenital malformations of great veins
0.000 0.933 0.067
Q26.6 Portal vein-hepatic artery fistula
0.000 0.933 0.067
Q26.5 Anomalous portal venous connexion
0.000 0.933 0.067
Q26.3 Partial anomalous pulmonary venous connexion
0.000 0.933 0.067
Q26.2 Total anomalous pulmonary venous connexion
0.000 0.933 0.067
Q26.1 Persistent left superior vena cava
0.000 0.933 0.067
Q26.0 Congenital stenosis of vena cava
0.000 0.933 0.067
Q61.4 Renal dysplasia
0.000 0.933 0.067
Q35.9 Cleft palate, unspecified
0.000 0.933 0.067
Q61.9 Cystic kidney disease, unspecified
0.000 0.933 0.067
Q12.9 Congenital lens malformation, unspecified
0.000 0.933 0.066
Q12.8 Other congenital lens malformations
0.000 0.933 0.066
Q12.4 Spherophakia
0.000 0.933 0.066
Q12.3 Congenital aphakia
0.000 0.933 0.066
Q12.2 Coloboma of lens
0.000 0.933 0.066
Q12.1 Congenital displaced lens
0.000 0.933 0.066
Q89.9 Congenital malformation, unspecified
0.000 0.933 0.066
Q89.8 Other specified congenital malformations
0.000 0.933 0.066
Q89.7 Multiple congenital malformations, not elsewhere classified
0.000 0.933 0.066
Q89.4 Conjoined twins
0.000 0.933 0.066
Q89.1 Congenital malformations of adrenal gland
0.000 0.933 0.066
Q10.0 Congenital ptosis
0.000 0.934 0.066
Q20.9 Congenital malformation of cardiac chambers and connexions, unspecified
0.000 0.934 0.066
Q20.8 Other congenital malformations of cardiac chambers and connexions
0.000 0.934 0.066
Q20.6 Isomerism of atrial appendages
0.000 0.934 0.066
Q20.5 Discordant atrioventricular connexion
0.000 0.934 0.066
Q20.4 Double inlet ventricle
0.000 0.934 0.066
Q20.3 Discordant ventriculoarterial connexion
0.000 0.934 0.066
Q20.2 Double outlet left ventricle
0.000 0.934 0.066
Q20.1 Double outlet right ventricle
0.000 0.934 0.066
Q20.0 Common arterial trunk
0.000 0.934 0.066
Q63.8 Other specified congenital malformations of kidney
0.000 0.934 0.066
Q61.2 Polycystic kidney, adult type
0.000 0.934 0.066
Q04.8 Other specified congenital malformations of brain
0.000 0.934 0.065
Q91.7 Patau's syndrome, unspecified
0.000 0.935 0.065
Q91.6 Trisomy 13, translocation
0.000 0.935 0.065
Q91.5 Trisomy 13, mosaicism (mitotic nondisjunction)
0.000 0.935 0.065
Q91.4 Trisomy 13, meiotic nondisjunction
0.000 0.935 0.065
Q91.3 Edwards' syndrome, unspecified
0.000 0.935 0.065
Q91.2 Trisomy 18, translocation
0.000 0.935 0.065
Q91.1 Trisomy 18, mosaicism (mitotic nondisjunction)
0.000 0.935 0.065
Q91.0 Trisomy 18, meiotic nondisjunction
0.000 0.935 0.065
Q92.9 Trisomy and partial trisomy of autosomes, unspecified
0.000 0.935 0.065
Q92.8 Other specified trisomies and partial trisomies of autosomes
0.000 0.935 0.065
Q92.7 Triploidy and polyploidy
0.000 0.935 0.065
Q92.6 Extra marker chromosomes
0.000 0.935 0.065
Q92.5 Duplications with other complex rearrangements
0.000 0.935 0.065
Q92.4 Duplications seen only at prometaphase
0.000 0.935 0.065
Q92.3 Minor partial trisomy
0.000 0.935 0.065
Q92.2 Major partial trisomy
0.000 0.935 0.065
Q92.1 Whole chromosome trisomy, mosaicism (mitotic nondisjunction)
0.000 0.935 0.065
Q92.0 Whole chromosome trisomy, meiotic nondisjunction
0.000 0.935 0.065
Q93.9 Deletion from autosomes, unspecified
0.000 0.935 0.065
Q93.8 Other deletions from the autosomes
0.000 0.935 0.065
Q93.7 Deletions with other complex rearrangements
0.000 0.935 0.065
Q93.6 Deletions seen only at prometaphase
0.000 0.935 0.065
Q93.5 Other deletions of part of a chromosome
0.000 0.935 0.065
Q93.4 Deletion of short arm of chromosome 5
0.000 0.935 0.065
Q93.3 Deletion of short arm of chromosome 4
0.000 0.935 0.065
Q93.2 Chromosome replaced with ring or dicentric
0.000 0.935 0.065
Q93.1 Whole chromosome monosomy, mosaicism (mitotic nondisjunction)
0.000 0.935 0.065
Q93.0 Whole chromosome monosomy, meiotic nondisjunction
0.000 0.935 0.065
Q95.9 Balanced rearrangement and structural marker, unspecified
0.000 0.935 0.065
Q95.8 Other balanced rearrangements and structural markers
0.000 0.935 0.065
Q95.5 Individuals with autosomal fragile site
0.000 0.935 0.065
Q95.4 Individuals with marker heterochromatin
0.000 0.935 0.065
Q95.3 Balanced sex/autosomal rearrangement in abnormal individual
0.000 0.935 0.065
Q95.2 Balanced autosomal rearrangement in abnormal individual
0.000 0.935 0.065
Q95.1 Chromosome inversion in normal individual
0.000 0.935 0.065
Q95.0 Balanced translocation and insertion in normal individual
0.000 0.935 0.065
Q97.9 Sex chromosome abnormality, female phenotype, unspecified
0.000 0.935 0.065
Q97.8 Other specified sex chromosome abnormalities, female phenotype
0.000 0.935 0.065
Q97.3 Female with 46,XY karyotype
0.000 0.935 0.065
Q97.2 Mosaicism, lines with various numbers of X chromosomes
0.000 0.935 0.065
Q97.1 Female with more than three X chromosomes
0.000 0.935 0.065
Q97.0 Karyotype 47,XXX
0.000 0.935 0.065
Q89.3 Situs inversus
0.000 0.935 0.065
Q12.0 Congenital cataract
0.000 0.935 0.064
Q89.0 Congenital malformations of spleen
0.000 0.936 0.064
Q60 Renal agenesis and other reduction defects of kidney
0.000 0.936 0.064
Q31.9 Congenital malformation of larynx, unspecified
0.000 0.936 0.063
Q31.8 Other congenital malformations of larynx
0.000 0.936 0.063
Q31.5 Congenital laryngomalacia
0.000 0.936 0.063
Q31.4 Congenital laryngeal stridor
0.000 0.936 0.063
Q31.2 Laryngeal hypoplasia
0.000 0.936 0.063
Q31.1 Congenital subglottic stenosis
0.000 0.936 0.063
Q07.9 Congenital malformation of nervous system, unspecified
0.000 0.936 0.063
Q61.0 Congenital single renal cyst
0.000 0.937 0.063
Q63.9 Congenital malformation of kidney, unspecified
0.000 0.937 0.063
Q00.2 Iniencephaly
0.000 0.937 0.063
Q00.1 Craniorachischisis
0.000 0.937 0.063
Q00.0 Anencephaly
0.000 0.937 0.063
Q01.9 Encephalocele, unspecified
0.000 0.937 0.063
Q01.8 Encephalocele of other sites
0.000 0.937 0.063
Q01.2 Occipital encephalocele
0.000 0.937 0.063
Q01.1 Nasofrontal encephalocele
0.000 0.937 0.063
Q01.0 Frontal encephalocele
0.000 0.937 0.063
Q87.1 Congenital malformation syndromes predominantly associated with short stature
0.000 0.937 0.063
Q03.9 Congenital hydrocephalus, unspecified
0.000 0.937 0.062
Q03.8 Other congenital hydrocephalus
0.000 0.937 0.062
Q03.1 Atresia of foramina of Magendie and Luschka
0.000 0.937 0.062
Q03.0 Malformations of aqueduct of Sylvius
0.000 0.938 0.062
Q90.2 Trisomy 21, translocation
0.000 0.938 0.062
Q90.1 Trisomy 21, mosaicism (mitotic nondisjunction)
0.000 0.938 0.062
Q90.0 Trisomy 21, meiotic nondisjunction
0.000 0.938 0.062
Q62 Congenital obstructive defects of renal pelvis and congenital malformations of ureter
0.000 0.938 0.062
Q06.9 Congenital malformation of spinal cord, unspecified
0.000 0.938 0.062
Q06.4 Hydromyelia
0.000 0.938 0.062
Q06.3 Other congenital cauda equina malformations
0.000 0.938 0.062
Q06.2 Diastematomyelia
0.000 0.938 0.062
Q06.1 Hypoplasia and dysplasia of spinal cord
0.000 0.938 0.062
Q06.0 Amyelia
0.000 0.938 0.062
Q15.9 Congenital malformation of eye, unspecified
0.000 0.939 0.061
Q15.8 Other specified congenital malformations of eye
0.000 0.939 0.061
Q06.8 Other specified congenital malformations of spinal cord
0.000 0.939 0.061
Q87.2 Congenital malformation syndromes predominantly involving limbs
0.000 0.939 0.061
Q35.8 (Cleft palate, unspecified, bilateral)
0.000 0.939 0.061
Q35.7 Cleft uvula
0.000 0.939 0.061
Q35.6 Cleft palate, medial
0.000 0.939 0.061
Q35.5 Cleft hard palate with cleft soft palate
0.000 0.939 0.061
Q35.4 (Cleft hard palate with cleft soft palate, bilateral)
0.000 0.939 0.061
Q35.3 Cleft soft palate
0.000 0.939 0.061
Q35.2 (Cleft soft palate, bilateral)
0.000 0.939 0.061
Q35.1 Cleft hard palate
0.000 0.939 0.061
Q35.0 (Cleft hard palate, bilateral)
0.000 0.939 0.061
Q04.9 Congenital malformation of brain, unspecified
0.000 0.939 0.061
Q04.5 Megalencephaly
0.000 0.939 0.061
Q04.4 Septo-optic dysplasia
0.000 0.939 0.061
Q04.3 Other reduction deformities of brain
0.000 0.939 0.061
Q04.2 Holoprosencephaly
0.000 0.939 0.061
Q04.1 Arhinencephaly
0.000 0.939 0.061
Q04.0 Congenital malformations of corpus callosum
0.000 0.939 0.061
Q85.1 Tuberous sclerosis
0.000 0.939 0.060
Q63.1 Lobulated, fused and horseshoe kidney
0.000 0.941 0.059
Q07.8 Other specified congenital malformations of nervous system
0.000 0.941 0.059
Q25 Congenital malformations of great arteries
0.000 0.941 0.059
Q63.3 Hyperplastic and giant kidney
0.000 0.941 0.058
Q87.5 Other congenital malformation syndromes with other skeletal changes
0.000 0.941 0.058
Q87.3 Congenital malformation syndromes involving early overgrowth
0.000 0.941 0.058
Q38-Q45 Other congenital malformations of the digestive system
0.000 0.942 0.058
Q90.9 Down's syndrome, unspecified
0.000 0.942 0.058
Q32.4 Other congenital malformations of bronchus
0.000 0.942 0.058
Q32.3 Congenital stenosis of bronchus
0.000 0.942 0.058
Q32.2 Congenital bronchomalacia
0.000 0.942 0.058
Q32.1 Other congenital malformations of trachea
0.000 0.942 0.058
Q32.0 Congenital tracheomalacia
0.000 0.942 0.058
Q33.9 Congenital malformation of lung, unspecified
0.000 0.942 0.058
Q33.8 Other congenital malformations of lung
0.000 0.942 0.058
Q33.6 Hypoplasia and dysplasia of lung
0.000 0.942 0.058
Q33.5 Ectopic tissue in lung
0.000 0.942 0.058
Q33.4 Congenital bronchiectasis
0.000 0.942 0.058
Q33.3 Agenesis of lung
0.000 0.942 0.058
Q33.2 Sequestration of lung
0.000 0.942 0.058
Q33.1 Accessory lobe of lung
0.000 0.942 0.058
Q33.0 Congenital cystic lung
0.000 0.942 0.058
Q34.9 Congenital malformation of respiratory system, unspecified
0.000 0.942 0.058
Q34.8 Other specified congenital malformations of respiratory system
0.000 0.942 0.058
Q34.1 Congenital cyst of mediastinum
0.000 0.942 0.058
Q34.0 Anomaly of pleura
0.000 0.942 0.058
Q36.9 Cleft lip, unilateral
0.000 0.943 0.056
Q36.1 Cleft lip, medial
0.000 0.943 0.056
Q36.0 Cleft lip, bilateral
0.000 0.943 0.056
Q30.9 Congenital malformation of nose, unspecified
0.000 0.944 0.056
Q30.8 Other congenital malformations of nose
0.000 0.944 0.056
Q30.2 Fissured, notched and cleft nose
0.000 0.944 0.056
Q30.1 Agenesis and underdevelopment of nose
0.000 0.944 0.056
Q30.0 Choanal atresia
0.000 0.944 0.056
Q37.8 Unspecified cleft palate with bilateral cleft lip
0.000 0.945 0.055
Q37.5 Cleft hard and soft palate with unilateral cleft lip
0.000 0.945 0.055
Q37.4 Cleft hard and soft palate with bilateral cleft lip
0.000 0.945 0.055

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.

This website was created, designed, and edited by ORCID iD iconPatrick K. Albers

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