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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 cluster associations

Hospitalization Episode Statistics (HES)

Cluster X0010
log Bayes Factor = 55.4857
contains 4 variants:
rs11121617
lBF = 6.360
Chr 1 : 10,842,021
rs7572554
lBF = 21.285
Chr 2 : 68,435,280
rs6356
lBF = 9.070
Chr11 : 2,190,951
rs2968482
lBF = 13.101
Chr16 : 88,844,433
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Results table
Term Risk
posterior probability
 No effect
posterior probability
 Protective
posterior probability
  
I83.9 Varicose veins of lower extremities without ulcer or inflammation
0.000 0.000 1.000
E10 Insulin-dependent diabetes mellitus
1.000 0.000 0.000
E10.3 With ophthalmic complications
1.000 0.000 0.000
E10.9 Without complications
0.999 0.001 0.000
E10.5 With peripheral circulatory complications
0.998 0.002 0.000
E10.1 With ketoacidosis
0.984 0.016 0.000
E10.4 With neurological complications
0.937 0.063 0.000
E10.0 With coma
0.926 0.074 0.000
E10.2 With renal complications
0.925 0.075 0.000
E10.8 With unspecified complications
0.915 0.085 0.000
D86.9 Sarcoidosis, unspecified
0.000 0.105 0.895
D86 Sarcoidosis
0.000 0.111 0.889
D86.0 Sarcoidosis of lung
0.000 0.114 0.886
D86.1 Sarcoidosis of lymph nodes
0.000 0.156 0.844
E10.7 With multiple complications
0.749 0.251 0.000
D86.8 Sarcoidosis of other and combined sites
0.000 0.335 0.665
E10.6 With other specified complications
0.654 0.346 0.000
D86.3 Sarcoidosis of skin
0.000 0.420 0.580
D86.2 Sarcoidosis of lung with sarcoidosis of lymph nodes
0.000 0.496 0.504
Z57.2 Occupational exposure to dust
0.000 0.580 0.420
I83 Varicose veins of lower extremities
0.000 0.777 0.223
I83.1 Varicose veins of lower extremities with inflammation
0.000 0.824 0.176
I69.3 Sequelae of cerebral infarction
0.149 0.851 0.000
E10-E14 Diabetes mellitus
0.137 0.863 0.000
I83.0 Varicose veins of lower extremities with ulcer
0.000 0.865 0.135
Z57 Occupational exposure to risk-factors
0.000 0.891 0.109
E12 Malnutrition-related diabetes mellitus
0.099 0.901 0.000
E11.5 With peripheral circulatory complications
0.094 0.906 0.000
E11 Non-insulin-dependent diabetes mellitus
0.093 0.907 0.000
E11.1 With ketoacidosis
0.092 0.908 0.000
Z57.5 Occupational exposure to toxic agents in other industries
0.000 0.915 0.085
Z57.3 Occupational exposure to other air contaminants
0.000 0.920 0.080
Q66 Congenital deformities of feet
0.079 0.921 0.000
Z57.0 Occupational exposure to noise
0.000 0.922 0.078
Z57.1 Occupational exposure to radiation
0.000 0.922 0.078
Z57.4 Occupational exposure to toxic agents in agriculture
0.000 0.922 0.078
Z57.6 Occupational exposure to extreme temperature
0.000 0.922 0.078
Z57.7 Occupational exposure to vibration
0.000 0.922 0.078
Z57.9 Occupational exposure to unspecified risk-factor
0.000 0.922 0.078
Q66.3 Other congenital varus deformities of feet
0.076 0.924 0.000
Q66.7 Pes cavus
0.076 0.924 0.000
E11.4 With neurological complications
0.074 0.926 0.000
Q66.8 Other congenital deformities of feet
0.073 0.927 0.000
I83.2 Varicose veins of lower extremities with both ulcer and inflammation
0.000 0.928 0.072
E12.0 With coma
0.071 0.929 0.000
E12.1 With ketoacidosis
0.071 0.929 0.000
E12.2 With renal complications
0.071 0.929 0.000
E12.3 With ophthalmic complications
0.071 0.929 0.000
E12.4 With neurological complications
0.071 0.929 0.000
E12.5 With peripheral circulatory complications
0.071 0.929 0.000
E12.6 With other specified complications
0.071 0.929 0.000
E12.7 With multiple complications
0.071 0.929 0.000
E12.8 With unspecified complications
0.071 0.929 0.000
E12.9 Without complications
0.071 0.929 0.000
E11.7 With multiple complications
0.067 0.933 0.000
E14 Unspecified diabetes mellitus
0.064 0.936 0.000
Q65-Q79 Congenital malformations and deformations of the musculoskeletal system
0.062 0.938 0.000
Q66.9 Congenital deformity of feet, unspecified
0.062 0.938 0.000
E11.8 With unspecified complications
0.058 0.942 0.000
E14.4 With neurological complications
0.058 0.942 0.000
Q74 Other congenital malformations of limb(s)
0.057 0.943 0.000
Q66.2 Metatarsus varus
0.057 0.943 0.000
Q66.1 Talipes calcaneovarus
0.057 0.943 0.000
Q66.4 Talipes calcaneovalgus
0.057 0.943 0.000
Q66.5 Congenital pes planus
0.057 0.943 0.000
E13 Other specified diabetes mellitus
0.056 0.944 0.000
Q66.6 Other congenital valgus deformities of feet
0.056 0.944 0.000
E14.0 With coma
0.055 0.945 0.000
Q74.1 Congenital malformation of knee
0.053 0.947 0.000
Q79 Congenital malformations of musculoskeletal system, not elsewhere classified
0.052 0.948 0.000
E14.6 With other specified complications
0.051 0.949 0.000
Q66.0 Talipes equinovarus
0.050 0.949 0.000
Q78 Other osteochondrodysplasias
0.048 0.952 0.000
E14.2 Withrenal complications
0.047 0.953 0.000
Q68 Other congenital musculoskeletal deformities
0.047 0.953 0.000
E14.7 With multiple complications
0.046 0.954 0.000
Q79.0 Congenital diaphragmatic hernia
0.046 0.954 0.000
Q77 Osteochondrodysplasia with defects of growth of tubular bones and spine
0.046 0.954 0.000
Q76 Congenital malformations of spine and bony thorax
0.046 0.954 0.000
Q74.0 Other congenital malformations of upper limb(s), including shoulder girdle
0.045 0.955 0.000
Q69 Polydactyly
0.045 0.955 0.000
Q70 Syndactyly
0.045 0.955 0.000
Q71 Reduction defects of upper limb
0.045 0.955 0.000
Q72 Reduction defects of lower limb
0.045 0.955 0.000
Q73 Reduction defects of unspecified limb
0.045 0.955 0.000
Q75 Other congenital malformations of skull and face bones
0.045 0.955 0.000
E14.1 With ketoacidosis
0.042 0.958 0.000
Q74.3 Arthrogryposis multiplex congenita
0.041 0.959 0.000
Q74.8 Other specified congenital malformations of limb(s)
0.041 0.959 0.000
Q74.9 Unspecified congenital malformation of limb(s)
0.041 0.959 0.000
E13.0 With coma
0.040 0.959 0.000
E13.1 With ketoacidosis
0.040 0.959 0.000
E13.2 With renal complications
0.040 0.959 0.000
E13.4 With neurological complications
0.040 0.959 0.000
E13.5 With peripheral circulatory complications
0.040 0.959 0.000
E13.6 With other specified complications
0.040 0.959 0.000
E13.7 With multiple complications
0.040 0.959 0.000
E13.8 With unspecified complications
0.040 0.959 0.000
Q65 Congenital deformities of hip
0.040 0.960 0.000
Q79.1 Other congenital malformations of diaphragm
0.040 0.960 0.000
Q76.1 Klippel-Feil syndrome
0.040 0.960 0.000
E13.3 With ophthalmic complications
0.039 0.960 0.000
Q78.2 Osteopetrosis
0.039 0.961 0.000
E14.8 With unspecified complications
0.039 0.961 0.000
E14.5 With peripheral circulatory complications
0.039 0.961 0.000
Z01.6 Radiological examination, not elsewhere classified
0.038 0.962 0.000
Q79.2 Exomphalos
0.038 0.962 0.000
Q79.3 Gastroschisis
0.038 0.962 0.000
Q79.4 Prune belly syndrome
0.038 0.962 0.000
Q79.5 Other congenital malformations of abdominal wall
0.038 0.962 0.000
Q79.9 Congenital malformation of musculoskeletal system, unspecified
0.038 0.962 0.000
Q67 Congenital musculoskeletal deformities of head, face, spine and chest
0.037 0.962 0.000
I69.8 Sequelae of other and unspecified cerebrovascular diseases
0.037 0.963 0.000
Q74.2 Other congenital malformations of lower limb(s), including pelvic girdle
0.037 0.963 0.000
Q79.6 Ehlers-Danlos syndrome
0.037 0.963 0.000
I69 Sequelae of cerebrovascular disease
0.037 0.963 0.000
Q76.5 Cervical rib
0.036 0.964 0.000
Q68.8 Other specified congenital musculoskeletal deformities
0.035 0.964 0.000
Q78.1 Polyostotic fibrous dysplasia
0.035 0.965 0.000
Q78.3 Progressive diaphyseal dysplasia
0.035 0.965 0.000
Q78.4 Enchondromatosis
0.035 0.965 0.000
Q78.5 Metaphyseal dysplasia
0.035 0.965 0.000
Q78.6 Multiple congenital exostoses
0.035 0.965 0.000
Q78.8 Other specified osteochondrodysplasias
0.035 0.965 0.000
Q78.9 Osteochondrodysplasia, unspecified
0.035 0.965 0.000
Q79.8 Other congenital malformations of musculoskeletal system
0.035 0.965 0.000
Q77.4 Achondroplasia
0.034 0.966 0.000
Q68.0 Congenital deformity of sternocleidomastoid muscle
0.034 0.966 0.000
Q68.1 Congenital deformity of hand
0.034 0.966 0.000
Q68.2 Congenital deformity of knee
0.034 0.966 0.000
Q68.3 Congenital bowing of femur
0.034 0.966 0.000
Q68.4 Congenital bowing of tibia and fibula
0.034 0.966 0.000
Q68.5 Congenital bowing of long bones of leg, unspecified
0.034 0.966 0.000
Q77.0 Achondrogenesis
0.033 0.967 0.000
Q77.1 Thanatophoric short stature
0.033 0.967 0.000
Q77.2 Short rib syndrome
0.033 0.967 0.000
Q77.3 Chondrodysplasia punctata
0.033 0.967 0.000
Q77.5 Diastrophic dysplasia
0.033 0.967 0.000
Q77.6 Chondroectodermal dysplasia
0.033 0.967 0.000
Q77.7 Spondyloepiphyseal dysplasia
0.033 0.967 0.000
Q77.8 Other osteochondrodysplasia with defects of growth of tubular bones and spine
0.033 0.967 0.000
Q77.9 Osteochondrodysplasia with defects of growth of tubular bones and spine, unspecified
0.033 0.967 0.000
Q76.2 Congenital spondylolisthesis
0.033 0.967 0.000
Q76.3 Congenital scoliosis due to congenital bony malformation
0.033 0.967 0.000
Q76.6 Other congenital malformations of ribs
0.033 0.967 0.000
Q76.7 Congenital malformation of sternum
0.033 0.967 0.000
Q76.8 Other congenital malformations of bony thorax
0.033 0.967 0.000
Q76.9 Congenital malformation of bony thorax, unspecified
0.033 0.967 0.000
Q78.0 Osteogenesis imperfecta
0.033 0.967 0.000
Q69.0 Accessory finger(s)
0.032 0.967 0.000
Q69.1 Accessory thumb(s)
0.032 0.967 0.000
Q69.2 Accessory toe(s)
0.032 0.967 0.000
Q69.9 Polydactyly, unspecified
0.032 0.967 0.000
Q70.0 Fused fingers
0.032 0.967 0.000
Q70.1 Webbed fingers
0.032 0.967 0.000
Q70.2 Fused toes
0.032 0.967 0.000
Q70.3 Webbed toes
0.032 0.967 0.000
Q70.4 Polysyndactyly
0.032 0.967 0.000
Q70.9 Syndactyly, unspecified
0.032 0.967 0.000
Q71.0 Congenital complete absence of upper limb(s)
0.032 0.967 0.000
Q71.1 Congenital absence of upper arm and forearm with hand present
0.032 0.967 0.000
Q71.2 Congenital absence of both forearm and hand
0.032 0.967 0.000
Q71.3 Congenital absence of hand and finger(s)
0.032 0.967 0.000
Q71.4 Longitudinal reduction defect of radius
0.032 0.967 0.000
Q71.5 Longitudinal reduction defect of ulna
0.032 0.967 0.000
Q71.6 Lobster-claw hand
0.032 0.967 0.000
Q71.8 Other reduction defects of upper limb(s)
0.032 0.967 0.000
Q71.9 Reduction defect of upper limb, unspecified
0.032 0.967 0.000
Q72.0 Congenital complete absence of lower limb(s)
0.032 0.967 0.000
Q72.1 Congenital absence of thigh and lower leg with foot present
0.032 0.967 0.000
Q72.2 Congenital absence of both lower leg and foot
0.032 0.967 0.000
Q72.3 Congenital absence of foot and toe(s)
0.032 0.967 0.000
Q72.4 Longitudinal reduction defect of femur
0.032 0.967 0.000
Q72.5 Longitudinal reduction defect of tibia
0.032 0.967 0.000
Q72.6 Longitudinal reduction defect of fibula
0.032 0.967 0.000
Q72.7 Split foot
0.032 0.967 0.000
Q72.8 Other reduction defects of lower limb(s)
0.032 0.967 0.000
Q72.9 Reduction defect of lower limb, unspecified
0.032 0.967 0.000
Q73.0 Congenital absence of unspecified limb(s)
0.032 0.967 0.000
Q73.1 Phocomelia, unspecified limb(s)
0.032 0.967 0.000
Q73.8 Other reduction defects of unspecified limb(s)
0.032 0.967 0.000
Q75.0 Craniosynostosis
0.032 0.967 0.000
Q75.1 Craniofacial dysostosis
0.032 0.967 0.000
Q75.2 Hypertelorism
0.032 0.967 0.000
Q75.3 Macrocephaly
0.032 0.967 0.000
Q75.4 Mandibulofacial dysostosis
0.032 0.967 0.000
Q75.5 Oculomandibular dysostosis
0.032 0.967 0.000
Q75.8 Other specified congenital malformations of skull and face bones
0.032 0.967 0.000
Q75.9 Congenital malformation of skull and face bones, unspecified
0.032 0.967 0.000
Q65.2 Congenital dislocation of hip, unspecified
0.032 0.968 0.000
Q65.0 Congenital dislocation of hip, unilateral
0.029 0.971 0.000
Q65.1 Congenital dislocation of hip, bilateral
0.029 0.971 0.000
Q65.3 Congenital subluxation of hip, unilateral
0.029 0.971 0.000
Q65.4 Congenital subluxation of hip, bilateral
0.029 0.971 0.000
Q65.5 Congenital subluxation of hip, unspecified
0.029 0.971 0.000
Q65.6 Unstable hip
0.029 0.971 0.000
Q65.9 Congenital deformity of hip, unspecified
0.029 0.971 0.000
Q67.4 Other congenital deformities of skull, face and jaw
0.028 0.971 0.000
Q67.6 Pectus excavatum
0.028 0.972 0.000
E11.3 With ophthalmic complications
0.028 0.972 0.000
Q67.0 Facial asymmetry
0.027 0.973 0.000
Q67.1 Compression facies
0.027 0.973 0.000
Q67.2 Dolichocephaly
0.027 0.973 0.000
Q67.3 Plagiocephaly
0.027 0.973 0.000
Q67.7 Pectus carinatum
0.027 0.973 0.000
Q67.8 Other congenital deformities of chest
0.027 0.973 0.000
Q76.4 Other congenital malformations of spine, not associated with scoliosis
0.027 0.973 0.000
F22.0 Delusional disorder
0.025 0.975 0.000
Z57.8 Occupational exposure to other risk-factors
0.001 0.976 0.024
I69.1 Sequelae of intracerebral haemorrhage
0.024 0.976 0.000
E11.2 With renal complications
0.023 0.977 0.000
Q76.0 Spina bifida occulta
0.022 0.978 0.000
E11.0 With coma
0.021 0.979 0.000
H02.1 Ectropion of eyelid
0.020 0.980 0.000
I69.2 Sequelae of other nontraumatic intracranial haemorrhage
0.020 0.980 0.000
F22 Persistent delusional disorders
0.019 0.981 0.000
F22.9 Persistent delusional disorder, unspecified
0.019 0.981 0.000
Q65.8 Other congenital deformities of hip
0.018 0.982 0.000
E14.3 With ophthalmic complications
0.018 0.982 0.000
E11.6 With other specified complications
0.017 0.983 0.000
D80-D89 Certain disorders involving the immune mechanism
0.000 0.983 0.016
E85.3 Secondary systemic amyloidosis
0.015 0.985 0.000
Q67.5 Congenital deformity of spine
0.015 0.985 0.000
Z01.5 Diagnostic skin and sensitisation tests
0.015 0.985 0.000
Z01 Other special examinations and investigations of persons without complaint or reported diagnosis
0.015 0.985 0.000
F22.8 Other persistent delusional disorders
0.014 0.986 0.000
Q05 Spina bifida
0.014 0.986 0.000
Q05.9 Spina bifida, unspecified
0.014 0.986 0.000
Z01.3 Examination of blood pressure
0.014 0.986 0.000
Q00-Q07 Congenital malformations of the nervous system
0.013 0.987 0.000
G06.0 Intracranial abscess and granuloma
0.013 0.987 0.000
G59.0 Diabetic mononeuropathy
0.013 0.987 0.000
S20.2 Contusion of thorax
0.000 0.987 0.013
D68.2 Hereditary deficiency of other clotting factors
0.012 0.988 0.000
G06 Intracranial and intraspinal abscess and granuloma
0.012 0.988 0.000
R27.0 Ataxia, unspecified
0.012 0.988 0.000
Q05.4 Unspecified spina bifida with hydrocephalus
0.012 0.988 0.000
D81 Combined immunodeficiencies
0.000 0.988 0.012
Chapter XVII Congenital malformations, deformations and chromosomal abnormalities
0.012 0.988 0.000
Z01.0 Examination of eyes and vision
0.012 0.988 0.000
M46.18 Sacroiliitis, not elsewhere classified-Sacral/sacrococ
0.012 0.988 0.000
Q06 Other congenital malformations of spinal cord
0.012 0.988 0.000
G06.2 Extradural and subdural abscess, unspecified
0.012 0.988 0.000
E85 Amyloidosis
0.012 0.988 0.000
Z01.7 Laboratory examination
0.011 0.989 0.000
E85.9 Amyloidosis, unspecified
0.011 0.989 0.000
Q03 Congenital hydrocephalus
0.011 0.989 0.000
Z01.1 Examination of ears and hearing
0.011 0.989 0.000
Q06.8 Other specified congenital malformations of spinal cord
0.011 0.989 0.000
F17.2 Dependence syndrome
0.011 0.989 0.000
Q05.0 Cervical spina bifida with hydrocephalus
0.010 0.990 0.000
Q05.1 Thoracic spina bifida with hydrocephalus
0.010 0.990 0.000
Q05.2 Lumbar spina bifida with hydrocephalus
0.010 0.990 0.000
Q05.3 Sacral spina bifida with hydrocephalus
0.010 0.990 0.000
Q05.5 Cervical spina bifida without hydrocephalus
0.010 0.990 0.000
Q05.6 Thoracic spina bifida without hydrocephalus
0.010 0.990 0.000
Q05.7 Lumbar spina bifida without hydrocephalus
0.010 0.990 0.000
Q05.8 Sacral spina bifida without hydrocephalus
0.010 0.990 0.000
M46.1 Sacro-iliitis, not elsewhere classified
0.010 0.990 0.000
D82 Immunodeficiency associated with other major defects
0.000 0.990 0.010
Q35-Q37 Cleft lip and cleft palate
0.010 0.990 0.000
C44.6 Skin of upper limb, including shoulder
0.000 0.990 0.010
Q02 Microcephaly
0.010 0.990 0.000
Q00 Anencephaly and similar malformations
0.010 0.990 0.000
Q01 Encephalocele
0.010 0.990 0.000
G06.1 Intraspinal abscess and granuloma
0.010 0.990 0.000
Q07 Other congenital malformations of nervous system
0.010 0.990 0.000
D83 Common variable immunodeficiency
0.000 0.990 0.009
Q04 Other congenital malformations of brain
0.009 0.990 0.000
Q30-Q34 Congenital malformations of the respiratory system
0.009 0.990 0.000
E85.8 Other amyloidosis
0.009 0.991 0.000
Q90-Q99 Chromosomal abnormalities, not elsewhere classified
0.009 0.991 0.000
M46.19 Sacroiliitis, not elsewhere classified-Site unspe
0.009 0.991 0.000
M25.42 Effusion of joint (Upper arm)
0.009 0.991 0.000
G00 Bacterial meningitis, not elsewhere classified
0.009 0.991 0.000
D81.0 Severe combined immunodeficiency [SCID] with reticular dysgenesis
0.000 0.991 0.009
D81.1 Severe combined immunodeficiency [SCID] with low T- and B-cell numbers
0.000 0.991 0.009
D81.2 Severe combined immunodeficiency [SCID] with low or normal B-cell numbers
0.000 0.991 0.009
D81.3 Adenosine deaminase [ADA] deficiency
0.000 0.991 0.009
D81.4 Nezelof's syndrome
0.000 0.991 0.009
D81.5 Purine nucleoside phosphorylase [PNP] deficiency
0.000 0.991 0.009
D81.6 Major histocompatibility complex class I deficiency
0.000 0.991 0.009
D81.7 Major histocompatibility complex class II deficiency
0.000 0.991 0.009
D81.8 Other combined immunodeficiencies
0.000 0.991 0.009
D81.9 Combined immunodeficiency, unspecified
0.000 0.991 0.009
Q37 Cleft palate with cleft lip
0.009 0.991 0.000
G00.8 Other bacterial meningitis
0.009 0.991 0.000
Q03.0 Malformations of aqueduct of Sylvius
0.009 0.991 0.000
E85.4 Organ-limited amyloidosis
0.009 0.991 0.000
Q06.0 Amyelia
0.009 0.991 0.000
Q06.1 Hypoplasia and dysplasia of spinal cord
0.009 0.991 0.000
Q06.2 Diastematomyelia
0.009 0.991 0.000
Q06.3 Other congenital cauda equina malformations
0.009 0.991 0.000
Q06.4 Hydromyelia
0.009 0.991 0.000
Q06.9 Congenital malformation of spinal cord, unspecified
0.009 0.991 0.000
E85.0 Nonneuropathic heredofamilial amyloidosis
0.008 0.991 0.000
E85.1 Neuropathic heredofamilial amyloidosis
0.008 0.991 0.000
E85.2 Heredofamilial amyloidosis, unspecified
0.008 0.991 0.000
Q98 Other sex chromosome abnormalities, male phenotype, not elsewhere classified
0.009 0.991 0.000
G00.2 Streptococcal meningitis
0.009 0.991 0.000
M46.4 Discitis, unspecified
0.009 0.991 0.000
M46.42 Discitis, unspecified (Cervical region)
0.009 0.991 0.000
G00-G09 Inflammatory diseases of the central nervous system
0.008 0.992 0.000
Q07.8 Other specified congenital malformations of nervous system
0.008 0.992 0.000
Q10-Q18 Congenital malformations of eye, ear, face and neck
0.008 0.992 0.000
Q98.4 Klinefelter's syndrome, unspecified
0.008 0.992 0.000
Q37.9 Unspecified cleft palate with unilateral cleft lip
0.008 0.992 0.000
Z01.9 Special examination, unspecified
0.008 0.992 0.000
Q03.1 Atresia of foramina of Magendie and Luschka
0.008 0.992 0.000
Q03.8 Other congenital hydrocephalus
0.008 0.992 0.000
Q03.9 Congenital hydrocephalus, unspecified
0.008 0.992 0.000
Q31 Congenital malformations of larynx
0.008 0.992 0.000
Q18.1 Preauricular sinus and cyst
0.008 0.992 0.000
M46.40 Discitis, unspecified (Multiple sites in spine)
0.008 0.992 0.000
G02 Meningitis in other infectious and parasitic diseases classified elsewhere
0.008 0.992 0.000
Q04.8 Other specified congenital malformations of brain
0.008 0.992 0.000
M46.10 Sacroiliitis, not elsewhere classified-Mult site
0.007 0.992 0.000
M46.11 Sacroiliitis, not elsewhere classified-Occipit-atl-axl
0.007 0.992 0.000
M46.12 Sacroiliitis, not elsewhere classified-Cervical
0.007 0.992 0.000
M46.13 Sacroiliitis, not elsewhere classified-Cervicothoracic
0.007 0.992 0.000
M46.14 Sacroiliitis, not elsewhere classified-Thoracic
0.007 0.992 0.000
M46.15 Sacroiliitis, not elsewhere classified-Thoracolumbar
0.007 0.992 0.000
M46.16 Sacroiliitis, not elsewhere classified-Lumbar
0.007 0.992 0.000
M46.17 Sacroiliitis, not elsewhere classified-Lumbosacral
0.007 0.992 0.000
D82.0 Wiskott-Aldrich syndrome
0.000 0.992 0.007
D82.2 Immunodeficiency with short-limbed stature
0.000 0.992 0.007
D82.4 Hyperimmunoglobulin E [IgE] syndrome
0.000 0.992 0.007
D82.8 Immunodeficiency associated with other specified major defects
0.000 0.992 0.007
D82.9 Immunodeficiency associated with major defect, unspecified
0.000 0.992 0.007
Q18 Other congenital malformations of face and neck
0.008 0.992 0.000
Q36 Cleft lip
0.007 0.992 0.000
Q00.0 Anencephaly
0.007 0.993 0.000
Q00.1 Craniorachischisis
0.007 0.993 0.000
Q00.2 Iniencephaly
0.007 0.993 0.000
Q01.0 Frontal encephalocele
0.007 0.993 0.000
Q01.1 Nasofrontal encephalocele
0.007 0.993 0.000
Q01.2 Occipital encephalocele
0.007 0.993 0.000
Q01.8 Encephalocele of other sites
0.007 0.993 0.000
Q01.9 Encephalocele, unspecified
0.007 0.993 0.000
Q38-Q45 Other congenital malformations of the digestive system
0.007 0.993 0.000
M46 Other inflammatory spondylopathies
0.007 0.993 0.000
Q35 Cleft palate
0.007 0.993 0.000
M46.47 Discitis, unspecified (Lumbosacral region)
0.007 0.993 0.000
G02.0 Meningitis in viral diseases classified elsewhere
0.007 0.993 0.000
Q07.9 Congenital malformation of nervous system, unspecified
0.007 0.993 0.000
Z01.2 Dental examination
0.007 0.993 0.000
D83.0 Common variable immunodeficiency with predominant abnormalities of B-cell numbers and function
0.000 0.993 0.007
D83.1 Common variable immunodeficiency with predominant immunoregulatory T-cell disorders
0.000 0.993 0.007
D83.2 Common variable immunodeficiency with autoantibodies to B- or T-cells
0.000 0.993 0.007
D83.8 Other common variable immunodeficiencies
0.000 0.993 0.007
G00.1 Pneumococcal meningitis
0.007 0.993 0.000
Q04.0 Congenital malformations of corpus callosum
0.007 0.993 0.000
Q04.1 Arhinencephaly
0.007 0.993 0.000
Q04.2 Holoprosencephaly
0.007 0.993 0.000
Q04.3 Other reduction deformities of brain
0.007 0.993 0.000
Q04.4 Septo-optic dysplasia
0.007 0.993 0.000
Q04.5 Megalencephaly
0.007 0.993 0.000
Q04.9 Congenital malformation of brain, unspecified
0.007 0.993 0.000
Q32 Congenital malformations of trachea and bronchus
0.007 0.993 0.000
Q33 Congenital malformations of lung
0.007 0.993 0.000
Q34 Other congenital malformations of respiratory system
0.007 0.993 0.000
Q30 Congenital malformations of nose
0.007 0.993 0.000
G09 Sequelae of inflammatory diseases of central nervous system
0.007 0.993 0.000
D82.3 Immunodeficiency following hereditary defective response to Epstein-Barr virus
0.000 0.993 0.007
Q91 Edwards' syndrome and Patau's syndrome
0.007 0.993 0.000
Q92 Other trisomies and partial trisomies of the autosomes, not elsewhere classified
0.007 0.993 0.000
Q93 Monosomies and deletions from the autosomes, not elsewhere classified
0.007 0.993 0.000
Q95 Balanced rearrangements and structural markers, not elsewhere classified
0.007 0.993 0.000
Q97 Other sex chromosome abnormalities, female phenotype, not elsewhere classified
0.007 0.993 0.000
Q99 Other chromosome abnormalities, not elsewhere classified
0.007 0.993 0.000
M46.44 Discitis, unspecified (Thoracic region)
0.007 0.993 0.000
G00.0 Haemophilus meningitis
0.007 0.993 0.000
G00.3 Staphylococcal meningitis
0.007 0.993 0.000
Q40 Other congenital malformations of upper alimentary tract
0.007 0.993 0.000
M46.49 Discitis, unspecified (Site unspecified)
0.007 0.993 0.000
Q31.0 Web of larynx
0.007 0.993 0.000
Q37.0 Cleft hard palate with bilateral cleft lip
0.006 0.993 0.000
Q37.1 Cleft hard palate with unilateral cleft lip
0.006 0.993 0.000
Q37.2 Cleft soft palate with bilateral cleft lip
0.006 0.993 0.000
Q37.3 Cleft soft palate with unilateral cleft lip
0.006 0.993 0.000
Q37.4 Cleft hard and soft palate with bilateral cleft lip
0.006 0.993 0.000
Q37.5 Cleft hard and soft palate with unilateral cleft lip
0.006 0.993 0.000
Q37.8 Unspecified cleft palate with bilateral cleft lip
0.006 0.993 0.000
Q14 Congenital malformations of posterior segment of eye
0.007 0.993 0.000
D82.1 Di George's syndrome
0.000 0.993 0.006
Q98.0 Klinefelter's syndrome karyotype 47,XXY
0.006 0.994 0.000
Q98.1 Klinefelter's syndrome, male with more than two X chromosomes
0.006 0.994 0.000
Q98.2 Klinefelter's syndrome, male with 46,XX karyotype
0.006 0.994 0.000
Q98.3 Other male with 46,XX karyotype
0.006 0.994 0.000
Q98.5 Karyotype 47,XYY
0.006 0.994 0.000
Q98.6 Male with structurally abnormal sex chromosome
0.006 0.994 0.000
Q98.7 Male with sex chromosome mosaicism
0.006 0.994 0.000
Q98.8 Other specified sex chromosome abnormalities, male phenotype
0.006 0.994 0.000
Q98.9 Sex chromosome abnormality, male phenotype, unspecified
0.006 0.994 0.000
G00.9 Bacterial meningitis, unspecified
0.006 0.994 0.000
M46.41 Discitis, unspecified (Occipito-atlanto-axial region)
0.006 0.994 0.000
M46.43 Discitis, unspecified (Cervicothoracic region)
0.006 0.994 0.000
M46.45 Discitis, unspecified (Thoracolumbar region)
0.006 0.994 0.000
M46.48 Discitis, unspecified (Sacral and sacrococcygeal region)
0.006 0.994 0.000
Q40.8 Other specified congenital malformations of upper alimentary tract
0.006 0.994 0.000
G07 Intracranial and intraspinal abscess and granuloma in diseases classified elsewhere
0.006 0.994 0.000
Q90 Down's syndrome
0.006 0.994 0.000
C09.9 Tonsil, unspecified
0.006 0.994 0.000
Q45 Other congenital malformations of digestive system
0.006 0.994 0.000
I69.0 Sequelae of subarachnoid haemorrhage
0.006 0.994 0.000
Q96 Turner's syndrome
0.006 0.994 0.000
Q11 Anophthalmos, microphthalmos and macrophthalmos
0.006 0.994 0.000
Q13 Congenital malformations of anterior segment of eye
0.006 0.994 0.000
Q15 Other congenital malformations of eye
0.006 0.994 0.000
Q16 Congenital malformations of ear causing impairment of hearing
0.006 0.994 0.000
Q04.6 Congenital cerebral cysts
0.006 0.994 0.000
Q31.1 Congenital subglottic stenosis
0.006 0.994 0.000
Q31.2 Laryngeal hypoplasia
0.006 0.994 0.000
Q31.3 Laryngocele
0.006 0.994 0.000
Q31.4 Congenital laryngeal stridor
0.006 0.994 0.000
Q31.5 Congenital laryngomalacia
0.006 0.994 0.000
Q31.8 Other congenital malformations of larynx
0.006 0.994 0.000
Q31.9 Congenital malformation of larynx, unspecified
0.006 0.994 0.000
G03 Meningitis due to other and unspecified causes
0.006 0.994 0.000
M46.3 Infection of intervertebral disk (pyogenic)
0.006 0.994 0.000
G02.1 Meningitis in mycoses
0.006 0.994 0.000
G02.8 Meningitis in other specified infectious and parasitic diseases classified elsewhere
0.006 0.994 0.000
G01 Meningitis in bacterial diseases classified elsewhere
0.006 0.994 0.000
Q18.2 Other branchial cleft malformations
0.006 0.994 0.000
Q18.3 Webbing of neck
0.006 0.994 0.000
Q18.4 Macrostomia
0.006 0.994 0.000
Q18.5 Microstomia
0.006 0.994 0.000
Q18.6 Macrocheilia
0.006 0.994 0.000
Q18.7 Microcheilia
0.006 0.994 0.000
Q18.8 Other specified congenital malformations of face and neck
0.006 0.994 0.000
Q18.9 Congenital malformation of face and neck, unspecified
0.006 0.994 0.000
M46.2 Osteomyelitis of vertebra
0.006 0.994 0.000
Q36.0 Cleft lip, bilateral
0.005 0.994 0.000
Q36.1 Cleft lip, medial
0.005 0.994 0.000
Q36.9 Cleft lip, unilateral
0.005 0.994 0.000
G05 Encephalitis, myelitis and encephalomyelitis in diseases classified elsewhere
0.006 0.994 0.000
S68.2 Traumatic amputation of two or more fingers alone (complete)(partial)
0.000 0.994 0.006
Q41 Congenital absence, atresia and stenosis of small intestine
0.005 0.994 0.000
Q42 Congenital absence, atresia and stenosis of large intestine
0.005 0.994 0.000
Q14.1 Congenital malformation of retina
0.005 0.994 0.000
G59 Mononeuropathy in diseases classified elsewhere
0.006 0.994 0.000
M46.5 Other infective spondylopathies
0.005 0.994 0.000
M46.8 Other specified inflammatory spondylopathies
0.005 0.994 0.000
Q07.0 Arnold-Chiari syndrome
0.006 0.994 0.000
Q35.0 (Cleft hard palate, bilateral)
0.005 0.994 0.000
Q35.1 Cleft hard palate
0.005 0.994 0.000
Q35.2 (Cleft soft palate, bilateral)
0.005 0.994 0.000
Q35.3 Cleft soft palate
0.005 0.994 0.000
Q35.4 (Cleft hard palate with cleft soft palate, bilateral)
0.005 0.994 0.000
Q35.5 Cleft hard palate with cleft soft palate
0.005 0.994 0.000
Q35.6 Cleft palate, medial
0.005 0.994 0.000
Q35.7 Cleft uvula
0.005 0.994 0.000
Q35.8 (Cleft palate, unspecified, bilateral)
0.005 0.994 0.000
Q40.2 Other specified congenital malformations of stomach
0.005 0.995 0.000
Q32.0 Congenital tracheomalacia
0.005 0.995 0.000
Q32.1 Other congenital malformations of trachea
0.005 0.995 0.000
Q32.2 Congenital bronchomalacia
0.005 0.995 0.000
Q32.3 Congenital stenosis of bronchus
0.005 0.995 0.000
Q32.4 Other congenital malformations of bronchus
0.005 0.995 0.000
Q33.0 Congenital cystic lung
0.005 0.995 0.000
Q33.1 Accessory lobe of lung
0.005 0.995 0.000
Q33.2 Sequestration of lung
0.005 0.995 0.000
Q33.3 Agenesis of lung
0.005 0.995 0.000
Q33.4 Congenital bronchiectasis
0.005 0.995 0.000
Q33.5 Ectopic tissue in lung
0.005 0.995 0.000
Q33.6 Hypoplasia and dysplasia of lung
0.005 0.995 0.000
Q33.8 Other congenital malformations of lung
0.005 0.995 0.000
Q33.9 Congenital malformation of lung, unspecified
0.005 0.995 0.000
Q34.0 Anomaly of pleura
0.005 0.995 0.000
Q34.1 Congenital cyst of mediastinum
0.005 0.995 0.000
Q34.8 Other specified congenital malformations of respiratory system
0.005 0.995 0.000
Q34.9 Congenital malformation of respiratory system, unspecified
0.005 0.995 0.000
Q30.0 Choanal atresia
0.005 0.995 0.000
Q30.1 Agenesis and underdevelopment of nose
0.005 0.995 0.000
Q30.2 Fissured, notched and cleft nose
0.005 0.995 0.000
Q30.8 Other congenital malformations of nose
0.005 0.995 0.000
Q30.9 Congenital malformation of nose, unspecified
0.005 0.995 0.000
Q45.3 Other congenital malformations of pancreas and pancreatic duct
0.005 0.995 0.000
Q30.3 Congenital perforated nasal septum
0.005 0.995 0.000
Q39 Congenital malformations of oesophagus
0.005 0.995 0.000
Q35.9 Cleft palate, unspecified
0.005 0.995 0.000
Q91.0 Trisomy 18, meiotic nondisjunction
0.005 0.995 0.000
Q91.1 Trisomy 18, mosaicism (mitotic nondisjunction)
0.005 0.995 0.000
Q91.2 Trisomy 18, translocation
0.005 0.995 0.000
Q91.3 Edwards' syndrome, unspecified
0.005 0.995 0.000
Q91.4 Trisomy 13, meiotic nondisjunction
0.005 0.995 0.000
Q91.5 Trisomy 13, mosaicism (mitotic nondisjunction)
0.005 0.995 0.000
Q91.6 Trisomy 13, translocation
0.005 0.995 0.000
Q91.7 Patau's syndrome, unspecified
0.005 0.995 0.000
Q92.0 Whole chromosome trisomy, meiotic nondisjunction
0.005 0.995 0.000
Q92.1 Whole chromosome trisomy, mosaicism (mitotic nondisjunction)
0.005 0.995 0.000
Q92.2 Major partial trisomy
0.005 0.995 0.000
Q92.3 Minor partial trisomy
0.005 0.995 0.000
Q92.4 Duplications seen only at prometaphase
0.005 0.995 0.000
Q92.5 Duplications with other complex rearrangements
0.005 0.995 0.000
Q92.6 Extra marker chromosomes
0.005 0.995 0.000
Q92.7 Triploidy and polyploidy
0.005 0.995 0.000
Q92.8 Other specified trisomies and partial trisomies of autosomes
0.005 0.995 0.000
Q92.9 Trisomy and partial trisomy of autosomes, unspecified
0.005 0.995 0.000
Q93.0 Whole chromosome monosomy, meiotic nondisjunction
0.005 0.995 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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