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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

rs78143514
log Bayes Factor = 18.6381
Chromosome 20   position 19,570,596  (GRCh37) Explore rs78143514 on Ensembl!

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
  
H26.9 Cataract, unspecified
1.000 0.000 0.000
H26 Other cataract
1.000 0.000 0.000
H25 Senile cataract
1.000 0.000 0.000
H25.1 Senile nuclear cataract
1.000 0.000 0.000
Z96.1 Presence of intraocular lens
1.000 0.000 0.000
H25-H28 Disorders of lens
1.000 0.000 0.000
H25.0 Senile incipient cataract
1.000 0.000 0.000
H26.4 After-cataract
0.997 0.003 0.000
H25.8 Other senile cataract
0.997 0.003 0.000
H25.9 Senile cataract, unspecified
0.981 0.019 0.000
H27 Other disorders of lens
0.893 0.107 0.000
H27.0 Aphakia
0.769 0.231 0.000
H26.8 Other specified cataract
0.764 0.236 0.000
H27.8 Other specified disorders of lens
0.738 0.262 0.000
H26.1 Traumatic cataract
0.722 0.278 0.000
H26.0 Infantile, juvenile and presenile cataract
0.720 0.280 0.000
H25.2 Senile cataract, morgagnian type
0.717 0.283 0.000
H26.3 Drug-induced cataract
0.717 0.283 0.000
H28 Cataract and other disorders of lens in diseases classified elsewhere
0.717 0.283 0.000
H27.9 Disorder of lens, unspecified
0.640 0.360 0.000
H27.1 Dislocation of lens
0.639 0.361 0.000
H26.2 Complicated cataract
0.610 0.390 0.000
H28.8 Other disorders of lens in diseases classified elsewhere
0.514 0.486 0.000
H28.2 Cataract in other diseases classified elsewhere
0.514 0.486 0.000
H28.1 Cataract in other endocrine, nutritional and metabolic diseases
0.514 0.486 0.000
H28.0 Diabetic cataract
0.514 0.486 0.000
Z96 Presence of other functional implants
0.086 0.914 0.000
Z96.8 Presence of other specified functional implants
0.074 0.926 0.000
Z96.4 Presence of endocrine implants
0.063 0.937 0.000
Z96.9 Presence of functional implant, unspecified
0.062 0.938 0.000
Z96.5 Presence of tooth-root and mandibular implants
0.062 0.938 0.000
Z96.3 Presence of artificial larynx
0.062 0.938 0.000
Z96.2 Presence of otological and audiological implants
0.054 0.945 0.000
Z96.7 Presence of other bone and tendon implants
0.052 0.948 0.000
Z96.0 Presence of urogenital implants
0.027 0.973 0.000
M54.57 Low back pain (Lumbosacral region)
0.026 0.974 0.000
M54.36 Sciatica (Lumbar region)
0.025 0.975 0.000
M54 Dorsalgia
0.025 0.975 0.000
M54.3 Sciatica
0.025 0.975 0.000
M54.5 Low back pain
0.025 0.975 0.000
M54.9 Dorsalgia, unspecified
0.023 0.977 0.000
M54.50 Low back pain (Multiple sites in spine)
0.022 0.978 0.000
M54.1 Radiculopathy
0.021 0.979 0.000
M54.37 Sciatica (Lumbosacral region)
0.021 0.979 0.000
M54.4 Lumbago with sciatica
0.021 0.979 0.000
M54.17 Radiculopathy (Lumbosacral region)
0.020 0.980 0.000
M54.6 Pain in thoracic spine
0.020 0.980 0.000
M54.99 Dorsalgia, unspecified (Site unspecified)
0.020 0.980 0.000
M54.96 Dorsalgia, unspecified (Lumbar region)
0.019 0.981 0.000
M54.58 Low back pain (Sacral and sacrococcygeal region)
0.019 0.981 0.000
M54.0 Panniculitis affecting regions of neck and back
0.018 0.982 0.000
M54.8 Other dorsalgia
0.018 0.982 0.000
M54.92 Dorsalgia, unspecified (Cervical region)
0.018 0.982 0.000
M54.35 Sciatica (Thoracolumbar region)
0.018 0.982 0.000
M54.34 Sciatica-Thoracic
0.018 0.982 0.000
M54.33 Sciatica-Cervicothoracic
0.018 0.982 0.000
M54.32 Sciatica-Cervical
0.018 0.982 0.000
M54.31 Sciatica-Occipit-atl-axl
0.018 0.982 0.000
M54.30 Sciatica (Multiple sites in spine)
0.018 0.982 0.000
M54.54 Low back pain-Thoracic
0.018 0.982 0.000
M54.53 Low back pain-Cervicothoracic
0.018 0.982 0.000
M54.52 Low back pain-Cervical
0.018 0.982 0.000
M54.51 Low back pain-Occipit-atl-axl
0.018 0.982 0.000
M54.38 Sciatica (Sacral and sacrococcygeal region)
0.018 0.982 0.000
M54.46 Lumbago with sciatica (Lumbar region)
0.017 0.983 0.000
M54.98 Dorsalgia, unspecified (Sacral and sacrococcygeal region)
0.017 0.983 0.000
M54.55 Low back pain (Thoracolumbar region)
0.017 0.983 0.000
M54.47 Lumbago with sciatica (Lumbosacral region)
0.017 0.983 0.000
M54.97 Dorsalgia, unspecified (Lumbosacral region)
0.016 0.983 0.000
M54.95 Dorsalgia, unspecified (Thoracolumbar region)
0.016 0.983 0.000
M54.93 Dorsalgia, unspecified (Cervicothoracic region)
0.016 0.983 0.000
M54.91 Dorsalgia, unspecified (Occipito-atlanto-axial region)
0.016 0.983 0.000
M54.64 Pain in thoracic spine (Thoracic region)
0.016 0.984 0.000
M54.90 Dorsalgia, unspecified (Multiple sites in spine)
0.016 0.984 0.000
M54.15 Radiculopathy (Thoracolumbar region)
0.016 0.984 0.000
M54.14 Radiculopathy (Thoracic region)
0.016 0.984 0.000
M54.13 Radiculopathy (Cervicothoracic region)
0.016 0.984 0.000
M54.11 Radiculopathy (Occipito-atlanto-axial region)
0.016 0.984 0.000
M54.10 Radiculopathy (Multiple sites in spine)
0.016 0.984 0.000
M54.59 Low back pain (Site unspecified)
0.016 0.984 0.000
M54.16 Radiculopathy (Lumbar region)
0.015 0.985 0.000
M54.18 Radiculopathy (Sacral and sacrococcygeal region)
0.015 0.985 0.000
M54.48 Lumbago with sciatica (Sacral and sacrococcygeal region)
0.015 0.985 0.000
M54.45 Lumbago with sciatica (Thoracolumbar region)
0.015 0.985 0.000
M54.44 Lumbago with sciatica-Thoracic
0.015 0.985 0.000
M54.43 Lumbago with sciatica-Cervicothoracic
0.015 0.985 0.000
M54.42 Lumbago with sciatica-Cervical
0.015 0.985 0.000
M54.41 Lumbago with sciatica-Occipit-atl-axl
0.015 0.985 0.000
M54.40 Lumbago with sciatica (Multiple sites in spine)
0.015 0.985 0.000
M54.19 Radiculopathy (Site unspecified)
0.015 0.985 0.000
M54.94 Dorsalgia, unspecified (Thoracic region)
0.015 0.985 0.000
M54.69 Pain in thoracic spine-Site unspe
0.014 0.985 0.000
M54.68 Pain in thoracic spine-Sacral/sacrococ
0.014 0.985 0.000
M54.67 Pain in thoracic spine-Lumbosacral
0.014 0.985 0.000
M54.66 Pain in thoracic spine-Lumbar
0.014 0.985 0.000
M54.65 Pain in thoracic spine (Thoracolumbar region)
0.014 0.985 0.000
M54.63 Pain in thoracic spine (Cervicothoracic region)
0.014 0.985 0.000
M54.62 Pain in thoracic spine-Cervical
0.014 0.985 0.000
M54.61 Pain in thoracic spine-Occipit-atl-axl
0.014 0.985 0.000
M54.60 Pain in thoracic spine (Multiple sites in spine)
0.014 0.985 0.000
M54.49 Lumbago with sciatica (Site unspecified)
0.014 0.986 0.000
M54.09 Panniculitis affecting regions of neck and back (Site unspecified)
0.013 0.987 0.000
M54.08 Panniculitis affecting regions of neck and back (Sacral and sacrococcygeal region)
0.013 0.987 0.000
M54.07 Panniculitis affecting regions of neck and back (Lumbosacral region)
0.013 0.987 0.000
M54.06 Panniculitis affecting regions of neck and back (Lumbar region)
0.013 0.987 0.000
M54.05 Panniculitis affecting regions of neck and back (Thoracolumbar region)
0.013 0.987 0.000
M54.04 Panniculitis affecting regions of neck and back (Thoracic region)
0.013 0.987 0.000
M54.03 Panniculitis affecting regions of neck and back (Cervicothoracic region)
0.013 0.987 0.000
M54.02 Panniculitis affecting regions of neck and back (Cervical region)
0.013 0.987 0.000
M54.01 Panniculitis affecting regions of neck and back (Occipito-atlanto-axial region)
0.013 0.987 0.000
M54.00 Panniculitis affecting regions of neck and back (Multiple sites in spine)
0.013 0.987 0.000
M54.88 Other dorsalgia (Sacral and sacrococcygeal region)
0.013 0.987 0.000
M54.87 Other dorsalgia (Lumbosacral region)
0.013 0.987 0.000
M54.86 Other dorsalgia (Lumbar region)
0.013 0.987 0.000
M54.85 Other dorsalgia (Thoracolumbar region)
0.013 0.987 0.000
M54.84 Other dorsalgia (Thoracic region)
0.013 0.987 0.000
M54.83 Other dorsalgia (Cervicothoracic region)
0.013 0.987 0.000
M54.82 Other dorsalgia (Cervical region)
0.013 0.987 0.000
M54.81 Other dorsalgia (Occipito-atlanto-axial region)
0.013 0.987 0.000
M54.80 Other dorsalgia (Multiple sites in spine)
0.013 0.987 0.000
M54.2 Cervicalgia
0.013 0.987 0.000
M54.89 Other dorsalgia (Site unspecified)
0.013 0.987 0.000
M54.12 Radiculopathy (Cervical region)
0.013 0.987 0.000
M54.39 Sciatica (Site unspecified)
0.013 0.987 0.000
Q61 Cystic kidney disease
0.012 0.988 0.000
Q60-Q64 Congenital malformations of the urinary system
0.012 0.988 0.000
Q63 Other congenital malformations of kidney
0.011 0.988 0.000
Q61.2 Polycystic kidney, adult type
0.011 0.989 0.000
Q63.0 Accessory kidney
0.011 0.989 0.000
Q61.9 Cystic kidney disease, unspecified
0.011 0.989 0.000
Q61.3 Polycystic kidney, unspecified
0.010 0.990 0.000
K86.1 Other chronic pancreatitis
0.000 0.990 0.010
M19.91 Arthrosis, unspecified (Shoulder region)
0.010 0.990 0.000
Q63.1 Lobulated, fused and horseshoe kidney
0.010 0.990 0.000
M54.28 Cervicalgia-Sacral/sacrococ
0.010 0.990 0.000
M54.27 Cervicalgia-Lumbosacral
0.010 0.990 0.000
M54.26 Cervicalgia-Lumbar
0.010 0.990 0.000
M54.25 Cervicalgia-Thoracolumbar
0.010 0.990 0.000
M54.24 Cervicalgia-Thoracic
0.010 0.990 0.000
M54.23 Cervicalgia (Cervicothoracic region)
0.010 0.990 0.000
M54.21 Cervicalgia (Occipito-atlanto-axial region)
0.010 0.990 0.000
M54.20 Cervicalgia-Mult site
0.010 0.990 0.000
Q61.0 Congenital single renal cyst
0.009 0.991 0.000
Q60 Renal agenesis and other reduction defects of kidney
0.009 0.991 0.000
M54.29 Cervicalgia-Site unspe
0.009 0.991 0.000
Q61.8 Other cystic kidney diseases
0.009 0.991 0.000
Q61.5 Medullary cystic kidney
0.009 0.991 0.000
Q61.4 Renal dysplasia
0.009 0.991 0.000
Q61.1 Polycystic kidney, infantile type
0.009 0.991 0.000
Q64 Other congenital malformations of urinary system
0.009 0.991 0.000
Q62 Congenital obstructive defects of renal pelvis and congenital malformations of ureter
0.009 0.991 0.000
C78.6 Secondary malignant neoplasm of retroperitoneum and peritoneum
0.009 0.991 0.000
Q63.9 Congenital malformation of kidney, unspecified
0.008 0.991 0.000
Q63.8 Other specified congenital malformations of kidney
0.008 0.991 0.000
Q63.3 Hyperplastic and giant kidney
0.008 0.991 0.000
Q63.2 Ectopic kidney
0.008 0.991 0.000
Chapter XVII Congenital malformations, deformations and chromosomal abnormalities
0.008 0.992 0.000
Z83.7 Family history of diseases of the digestive system
0.008 0.992 0.000
S42.00 Fracture of clavicle (closed)
0.000 0.992 0.008
Q50-Q56 Congenital malformations of genital organs
0.008 0.992 0.000
C85.1 B-cell lymphoma, unspecified
0.007 0.992 0.000
Q00-Q07 Congenital malformations of the nervous system
0.007 0.993 0.000
Z83 Family history of other specific disorders
0.007 0.993 0.000
Q90-Q99 Chromosomal abnormalities, not elsewhere classified
0.007 0.993 0.000
Q54 Hypospadias
0.007 0.993 0.000
K86 Other diseases of pancreas
0.000 0.993 0.007
Q60.2 Renal agenesis, unspecified
0.007 0.993 0.000
Q60.0 Renal agenesis, unilateral
0.007 0.993 0.000
Z83.5 Family history of eye and ear disorders
0.007 0.993 0.000
Q38-Q45 Other congenital malformations of the digestive system
0.007 0.993 0.000
Z83.2 Family history of diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism
0.007 0.993 0.000
Q60.6 Potter's syndrome
0.007 0.993 0.000
Q60.5 Renal hypoplasia, unspecified
0.007 0.993 0.000
Q60.4 Renal hypoplasia, bilateral
0.007 0.993 0.000
Q60.3 Renal hypoplasia, unilateral
0.007 0.993 0.000
Q60.1 Renal agenesis, bilateral
0.007 0.993 0.000
K81.1 Chronic cholecystitis
0.000 0.993 0.007
Q07 Other congenital malformations of nervous system
0.007 0.993 0.000
Q54.1 Hypospadias, penile
0.006 0.993 0.000
Q62.8 Other congenital malformations of ureter
0.006 0.993 0.000
Q62.7 Congenital vesico-uretero-renal reflux
0.006 0.993 0.000
Q62.6 Malposition of ureter
0.006 0.993 0.000
Q62.5 Duplication of ureter
0.006 0.993 0.000
Q62.4 Agenesis of ureter
0.006 0.993 0.000
Q62.3 Other obstructive defects of renal pelvis and ureter
0.006 0.993 0.000
Q62.2 Congenital megaloureter
0.006 0.993 0.000
Q62.1 Atresia and stenosis of ureter
0.006 0.993 0.000
Q62.0 Congenital hydronephrosis
0.006 0.993 0.000
Q64.9 Congenital malformation of urinary system, unspecified
0.006 0.993 0.000
Q64.8 Other specified congenital malformations of urinary system
0.006 0.993 0.000
Q64.7 Other congenital malformations of bladder and urethra
0.006 0.993 0.000
Q64.6 Congenital diverticulum of bladder
0.006 0.993 0.000
Q64.5 Congenital absence of bladder and urethra
0.006 0.993 0.000
Q64.4 Malformation of urachus
0.006 0.993 0.000
Q64.3 Other atresia and stenosis of urethra and bladder neck
0.006 0.993 0.000
Q64.2 Congenital posterior urethral valves
0.006 0.993 0.000
Q64.1 Exstrophy of urinary bladder
0.006 0.993 0.000
Q64.0 Epispadias
0.006 0.993 0.000
Q80-Q89 Other congenital malformations
0.006 0.994 0.000
Q96 Turner's syndrome
0.006 0.994 0.000
Z83.3 Family history of diabetes mellitus
0.006 0.994 0.000
Q35-Q37 Cleft lip and cleft palate
0.006 0.994 0.000
Q30-Q34 Congenital malformations of the respiratory system
0.006 0.994 0.000
Q54.0 Hypospadias, balanic
0.006 0.994 0.000
Q65-Q79 Congenital malformations and deformations of the musculoskeletal system
0.006 0.994 0.000
Q53 Undescended testicle
0.006 0.994 0.000
Q07.0 Arnold-Chiari syndrome
0.006 0.994 0.000
K81 Cholecystitis
0.000 0.994 0.006
M54.22 Cervicalgia (Cervical region)
0.006 0.994 0.000
K86.0 Alcohol-induced chronic pancreatitis
0.000 0.994 0.006
Q96.9 Turner's syndrome, unspecified
0.006 0.994 0.000
Z83.4 Family history of other endocrine, nutritional and metabolic diseases
0.006 0.994 0.000
K86.8 Other specified diseases of pancreas
0.000 0.994 0.006
Q05 Spina bifida
0.006 0.994 0.000
K82.4 Cholesterolosis of gallbladder
0.000 0.994 0.006
Q56 Indeterminate sex and pseudohermaphroditism
0.006 0.994 0.000
Q55 Other congenital malformations of male genital organs
0.006 0.994 0.000
Q52 Other congenital malformations of female genitalia
0.006 0.994 0.000
Q10-Q18 Congenital malformations of eye, ear, face and neck
0.006 0.994 0.000
Q51 Congenital malformations of uterus and cervix
0.005 0.994 0.000
Q06 Other congenital malformations of spinal cord
0.005 0.994 0.000
Q04 Other congenital malformations of brain
0.005 0.994 0.000
Q03 Congenital hydrocephalus
0.005 0.994 0.000
Q01 Encephalocele
0.005 0.994 0.000
Q00 Anencephaly and similar malformations
0.005 0.994 0.000
Q02 Microcephaly
0.005 0.994 0.000
Z83.6 Family history of diseases of the respiratory system
0.005 0.994 0.000
Z83.1 Family history of other infectious and parasitic diseases
0.005 0.994 0.000
Z83.0 Family history of human immunodeficiency virus [HIV]
0.005 0.994 0.000
K80-K87 Disorders of gallbladder, biliary tract and pancreas
0.000 0.994 0.006
Q44 Congenital malformations of gallbladder, bile ducts and liver
0.005 0.994 0.000
Q38 Other congenital malformations of tongue, mouth and pharynx
0.005 0.994 0.000
Q54.9 Hypospadias, unspecified
0.005 0.995 0.000
Q99 Other chromosome abnormalities, not elsewhere classified
0.005 0.995 0.000
Q98 Other sex chromosome abnormalities, male phenotype, not elsewhere classified
0.005 0.995 0.000
Q97 Other sex chromosome abnormalities, female phenotype, not elsewhere classified
0.005 0.995 0.000
Q95 Balanced rearrangements and structural markers, not elsewhere classified
0.005 0.995 0.000
Q93 Monosomies and deletions from the autosomes, not elsewhere classified
0.005 0.995 0.000
Q92 Other trisomies and partial trisomies of the autosomes, not elsewhere classified
0.005 0.995 0.000
Q91 Edwards' syndrome and Patau's syndrome
0.005 0.995 0.000
Q90 Down's syndrome
0.005 0.995 0.000
Q54.8 Other hypospadias
0.005 0.995 0.000
Q54.4 Congenital chordee
0.005 0.995 0.000
Q54.3 Hypospadias, perineal
0.005 0.995 0.000
Q54.2 Hypospadias, penoscrotal
0.005 0.995 0.000
K86.3 Pseudocyst of pancreas
0.000 0.995 0.005
K82 Other diseases of gallbladder
0.000 0.995 0.005
Q74 Other congenital malformations of limb(s)
0.005 0.995 0.000
Q39 Congenital malformations of oesophagus
0.005 0.995 0.000
K81.0 Acute cholecystitis
0.000 0.995 0.005
S42.0 Fracture of clavicle
0.000 0.995 0.005
Q85 Phakomatoses, not elsewhere classified
0.005 0.995 0.000
Q45 Other congenital malformations of digestive system
0.005 0.995 0.000
Q42 Congenital absence, atresia and stenosis of large intestine
0.005 0.995 0.000
Q41 Congenital absence, atresia and stenosis of small intestine
0.005 0.995 0.000
Q40 Other congenital malformations of upper alimentary tract
0.005 0.995 0.000
Q82 Other congenital malformations of skin
0.005 0.995 0.000
Q53.1 Undescended testicle, unilateral
0.005 0.995 0.000
Q50 Congenital malformations of ovaries, Fallopian tubes and broad ligaments
0.005 0.995 0.000
Q07.9 Congenital malformation of nervous system, unspecified
0.005 0.995 0.000
Q07.8 Other specified congenital malformations of nervous system
0.005 0.995 0.000
Q43 Other congenital malformations of intestine
0.005 0.995 0.000
Q86 Congenital malformation syndromes due to known exogenous causes, not elsewhere classified
0.005 0.995 0.000
Q84 Other congenital malformations of integument
0.005 0.995 0.000
Q83 Congenital malformations of breast
0.005 0.995 0.000
Q81 Epidermolysis bullosa
0.005 0.995 0.000
Q80 Congenital ichthyosis
0.005 0.995 0.000
Q20-Q28 Congenital malformations of the circulatory system
0.005 0.995 0.000
Q96.8 Other variants of Turner's syndrome
0.005 0.995 0.000
Q96.4 Mosaicism, 45,X/other cell line(s) with abnormal sex chromosome
0.005 0.995 0.000
Q96.3 Mosaicism, 45,X/46,XX or XY
0.005 0.995 0.000
Q96.2 Karyotype 46,X with abnormal sex chromosome, except iso (Xq)
0.005 0.995 0.000
Q96.1 Karyotype 46,X iso (Xq)
0.005 0.995 0.000
Q96.0 Karyotype 45,X
0.005 0.995 0.000
Q78 Other osteochondrodysplasias
0.005 0.995 0.000
Q67 Congenital musculoskeletal deformities of head, face, spine and chest
0.005 0.995 0.000
M50.3 Other cervical disk degeneration
0.000 0.995 0.005
Q34 Other congenital malformations of respiratory system
0.005 0.995 0.000
Q33 Congenital malformations of lung
0.005 0.995 0.000
Q32 Congenital malformations of trachea and bronchus
0.005 0.995 0.000
Q31 Congenital malformations of larynx
0.005 0.995 0.000
Q30 Congenital malformations of nose
0.005 0.995 0.000
Q37 Cleft palate with cleft lip
0.005 0.995 0.000
Q36 Cleft lip
0.005 0.995 0.000
Q35 Cleft palate
0.005 0.995 0.000
Q74.2 Other congenital malformations of lower limb(s), including pelvic girdle
0.005 0.995 0.000
Q77 Osteochondrodysplasia with defects of growth of tubular bones and spine
0.005 0.995 0.000
Q75 Other congenital malformations of skull and face bones
0.005 0.995 0.000
Q73 Reduction defects of unspecified limb
0.005 0.995 0.000
Q72 Reduction defects of lower limb
0.005 0.995 0.000
Q71 Reduction defects of upper limb
0.005 0.995 0.000
Q70 Syndactyly
0.005 0.995 0.000
Q69 Polydactyly
0.005 0.995 0.000
Q68 Other congenital musculoskeletal deformities
0.005 0.995 0.000
Q87 Other specified congenital malformation syndromes affecting multiple systems
0.005 0.995 0.000
K83 Other diseases of biliary tract
0.000 0.995 0.005
K83.1 Obstruction of bile duct
0.000 0.995 0.005
O03.4 Incomplete, without complication
0.005 0.995 0.000
Q53.9 Undescended testicle, unspecified
0.004 0.995 0.000
Q53.2 Undescended testicle, bilateral
0.004 0.995 0.000
Q53.0 Ectopic testis
0.004 0.995 0.000
K81.8 Other cholecystitis
0.000 0.995 0.004
M54.56 Low back pain (Lumbar region)
0.005 0.995 0.000
Q05.9 Spina bifida, unspecified
0.004 0.995 0.000
Q66 Congenital deformities of feet
0.004 0.995 0.000
Q89 Other congenital malformations, not elsewhere classified
0.004 0.995 0.000
K86.9 Disease of pancreas, unspecified
0.000 0.995 0.004
Q44.6 Cystic disease of liver
0.004 0.995 0.000
Q76 Congenital malformations of spine and bony thorax
0.004 0.995 0.000
Q38.7 Pharyngeal pouch
0.004 0.995 0.000
Q79 Congenital malformations of musculoskeletal system, not elsewhere classified
0.004 0.996 0.000
Q05.8 Sacral spina bifida without hydrocephalus
0.004 0.996 0.000
Q05.7 Lumbar spina bifida without hydrocephalus
0.004 0.996 0.000
Q05.6 Thoracic spina bifida without hydrocephalus
0.004 0.996 0.000
Q05.5 Cervical spina bifida without hydrocephalus
0.004 0.996 0.000
Q05.4 Unspecified spina bifida with hydrocephalus
0.004 0.996 0.000
Q05.3 Sacral spina bifida with hydrocephalus
0.004 0.996 0.000
Q05.2 Lumbar spina bifida with hydrocephalus
0.004 0.996 0.000
Q05.1 Thoracic spina bifida with hydrocephalus
0.004 0.996 0.000
Q05.0 Cervical spina bifida with hydrocephalus
0.004 0.996 0.000
Q52.9 Congenital malformation of female genitalia, unspecified
0.004 0.996 0.000
Q52.8 Other specified congenital malformations of female genitalia
0.004 0.996 0.000
Q52.7 Other congenital malformations of vulva
0.004 0.996 0.000
Q52.6 Congenital malformation of clitoris
0.004 0.996 0.000
Q52.5 Fusion of labia
0.004 0.996 0.000
Q52.4 Other congenital malformations of vagina
0.004 0.996 0.000
Q52.3 Imperforate hymen
0.004 0.996 0.000
Q52.2 Congenital rectovaginal fistula
0.004 0.996 0.000
Q52.1 Doubling of vagina
0.004 0.996 0.000
Q52.0 Congenital absence of vagina
0.004 0.996 0.000
Q55.9 Congenital malformation of male genital organ, unspecified
0.004 0.996 0.000
Q55.8 Other specified congenital malformations of male genital organs
0.004 0.996 0.000
Q55.6 Other congenital malformations of penis
0.004 0.996 0.000
Q55.5 Congenital absence and aplasia of penis
0.004 0.996 0.000
Q55.4 Other congenital malformations of vas deferens, epididymis, seminal vesicles and prostate
0.004 0.996 0.000
Q55.3 Atresia of vas deferens
0.004 0.996 0.000
Q55.2 Other congenital malformations of testis and scrotum
0.004 0.996 0.000
Q55.1 Hypoplasia of testis and scrotum
0.004 0.996 0.000
Q55.0 Absence and aplasia of testis
0.004 0.996 0.000
Q56.4 Indeterminate sex, unspecified
0.004 0.996 0.000
Q56.3 Pseudohermaphroditism, unspecified
0.004 0.996 0.000
Q56.2 Female pseudohermaphroditism, not elsewhere classified
0.004 0.996 0.000
Q56.1 Male pseudohermaphroditism, not elsewhere classified
0.004 0.996 0.000
Q56.0 Hermaphroditism, not elsewhere classified
0.004 0.996 0.000
Q17 Other congenital malformations of ear
0.004 0.996 0.000
Q16 Congenital malformations of ear causing impairment of hearing
0.004 0.996 0.000
Q15 Other congenital malformations of eye
0.004 0.996 0.000
Q14 Congenital malformations of posterior segment of eye
0.004 0.996 0.000
Q13 Congenital malformations of anterior segment of eye
0.004 0.996 0.000
Q11 Anophthalmos, microphthalmos and macrophthalmos
0.004 0.996 0.000
Q10 Congenital malformations of eyelid, lachrymal apparatus and orbit
0.004 0.996 0.000
Q82.2 Mastocytosis
0.004 0.996 0.000
Q51.9 Congenital malformation of uterus and cervix, unspecified
0.004 0.996 0.000
Q51.8 Other congenital malformations of uterus and cervix
0.004 0.996 0.000
Q51.7 Congenital fistulae between uterus and digestive and urinary tracts
0.004 0.996 0.000
Q51.6 Embryonic cyst of cervix
0.004 0.996 0.000
Q51.5 Agenesis and aplasia of cervix
0.004 0.996 0.000
Q51.4 Unicornate uterus
0.004 0.996 0.000
Q51.2 Other doubling of uterus
0.004 0.996 0.000
Q51.1 Doubling of uterus with doubling of cervix and vagina
0.004 0.996 0.000
Q51.0 Agenesis and aplasia of uterus
0.004 0.996 0.000
K82.2 Perforation of gallbladder
0.000 0.996 0.004
Q00.2 Iniencephaly
0.004 0.996 0.000
Q00.1 Craniorachischisis
0.004 0.996 0.000
Q00.0 Anencephaly
0.004 0.996 0.000
Q01.9 Encephalocele, unspecified
0.004 0.996 0.000
Q01.8 Encephalocele of other sites
0.004 0.996 0.000
Q01.2 Occipital encephalocele
0.004 0.996 0.000
Q01.1 Nasofrontal encephalocele
0.004 0.996 0.000
Q01.0 Frontal encephalocele
0.004 0.996 0.000
Q03.9 Congenital hydrocephalus, unspecified
0.004 0.996 0.000
Q03.8 Other congenital hydrocephalus
0.004 0.996 0.000
Q03.1 Atresia of foramina of Magendie and Luschka
0.004 0.996 0.000
Q03.0 Malformations of aqueduct of Sylvius
0.004 0.996 0.000
Q04.9 Congenital malformation of brain, unspecified
0.004 0.996 0.000
Q04.8 Other specified congenital malformations of brain
0.004 0.996 0.000
Q04.6 Congenital cerebral cysts
0.004 0.996 0.000
Q04.5 Megalencephaly
0.004 0.996 0.000
Q04.4 Septo-optic dysplasia
0.004 0.996 0.000
Q04.3 Other reduction deformities of brain
0.004 0.996 0.000
Q04.2 Holoprosencephaly
0.004 0.996 0.000
Q04.1 Arhinencephaly
0.004 0.996 0.000
Q04.0 Congenital malformations of corpus callosum
0.004 0.996 0.000
Q06.9 Congenital malformation of spinal cord, unspecified
0.004 0.996 0.000
Q06.8 Other specified congenital malformations of spinal cord
0.004 0.996 0.000
Q06.4 Hydromyelia
0.004 0.996 0.000
Q06.3 Other congenital cauda equina malformations
0.004 0.996 0.000
Q06.2 Diastematomyelia
0.004 0.996 0.000
Q06.1 Hypoplasia and dysplasia of spinal cord
0.004 0.996 0.000
Q06.0 Amyelia
0.004 0.996 0.000
K87 Disorders of gallbladder, biliary tract and pancreas in diseases classified elsewhere
0.000 0.996 0.004
Q44.7 Other congenital malformations of liver
0.004 0.996 0.000
Q44.5 Other congenital malformations of bile ducts
0.004 0.996 0.000
Q44.4 Choledochal cyst
0.004 0.996 0.000
Q44.3 Congenital stenosis and stricture of bile ducts
0.004 0.996 0.000
Q44.2 Atresia of bile ducts
0.004 0.996 0.000
Q44.1 Other congenital malformations of gallbladder
0.004 0.996 0.000
Q44.0 Agenesis, aplasia and hypoplasia of gallbladder
0.004 0.996 0.000
Q85.0 Neurofibromatosis (nonmalignant)
0.004 0.996 0.000
Q38.8 Other congenital malformations of pharynx
0.004 0.996 0.000
Q38.6 Other congenital malformations of mouth
0.004 0.996 0.000
Q38.5 Congenital malformations of palate, not elsewhere classified
0.004 0.996 0.000
Q38.4 Congenital malformations of salivary glands and ducts
0.004 0.996 0.000
Q38.3 Other congenital malformations of tongue
0.004 0.996 0.000
Q38.2 Macroglossia
0.004 0.996 0.000
Q38.1 Ankyloglossia
0.004 0.996 0.000
Q38.0 Congenital malformations of lips, not elsewhere classified
0.004 0.996 0.000
Q82.5 Congenital nonneoplastic naevus
0.004 0.996 0.000
Q51.3 Bicornate uterus
0.004 0.996 0.000
Q90.9 Down's syndrome, unspecified
0.004 0.996 0.000
Q90.2 Trisomy 21, translocation
0.004 0.996 0.000
Q90.1 Trisomy 21, mosaicism (mitotic nondisjunction)
0.004 0.996 0.000
Q90.0 Trisomy 21, meiotic nondisjunction
0.004 0.996 0.000
Q91.7 Patau's syndrome, unspecified
0.004 0.996 0.000
Q91.6 Trisomy 13, translocation
0.004 0.996 0.000
Q91.5 Trisomy 13, mosaicism (mitotic nondisjunction)
0.004 0.996 0.000
Q91.4 Trisomy 13, meiotic nondisjunction
0.004 0.996 0.000
Q91.3 Edwards' syndrome, unspecified
0.004 0.996 0.000
Q91.2 Trisomy 18, translocation
0.004 0.996 0.000
Q91.1 Trisomy 18, mosaicism (mitotic nondisjunction)
0.004 0.996 0.000
Q91.0 Trisomy 18, meiotic nondisjunction
0.004 0.996 0.000
Q92.9 Trisomy and partial trisomy of autosomes, unspecified
0.004 0.996 0.000
Q92.8 Other specified trisomies and partial trisomies of autosomes
0.004 0.996 0.000
Q92.7 Triploidy and polyploidy
0.004 0.996 0.000
Q92.6 Extra marker chromosomes
0.004 0.996 0.000
Q92.5 Duplications with other complex rearrangements
0.004 0.996 0.000
Q92.4 Duplications seen only at prometaphase
0.004 0.996 0.000
Q92.3 Minor partial trisomy
0.004 0.996 0.000
Q92.2 Major partial trisomy
0.004 0.996 0.000
Q92.1 Whole chromosome trisomy, mosaicism (mitotic nondisjunction)
0.004 0.996 0.000
Q92.0 Whole chromosome trisomy, meiotic nondisjunction
0.004 0.996 0.000
Q93.9 Deletion from autosomes, unspecified
0.004 0.996 0.000
Q93.8 Other deletions from the autosomes
0.004 0.996 0.000
Q93.7 Deletions with other complex rearrangements
0.004 0.996 0.000
Q93.6 Deletions seen only at prometaphase
0.004 0.996 0.000
Q93.5 Other deletions of part of a chromosome
0.004 0.996 0.000
Q93.4 Deletion of short arm of chromosome 5
0.004 0.996 0.000
Q93.3 Deletion of short arm of chromosome 4
0.004 0.996 0.000
Q93.2 Chromosome replaced with ring or dicentric
0.004 0.996 0.000
Q93.1 Whole chromosome monosomy, mosaicism (mitotic nondisjunction)
0.004 0.996 0.000
Q93.0 Whole chromosome monosomy, meiotic nondisjunction
0.004 0.996 0.000
Q95.9 Balanced rearrangement and structural marker, unspecified
0.004 0.996 0.000
Q95.8 Other balanced rearrangements and structural markers
0.004 0.996 0.000
Q95.5 Individuals with autosomal fragile site
0.004 0.996 0.000
Q95.4 Individuals with marker heterochromatin
0.004 0.996 0.000
Q95.3 Balanced sex/autosomal rearrangement in abnormal individual
0.004 0.996 0.000
Q95.2 Balanced autosomal rearrangement in abnormal individual
0.004 0.996 0.000
Q95.1 Chromosome inversion in normal individual
0.004 0.996 0.000
Q95.0 Balanced translocation and insertion in normal individual
0.004 0.996 0.000
Q97.9 Sex chromosome abnormality, female phenotype, unspecified
0.004 0.996 0.000
Q97.8 Other specified sex chromosome abnormalities, female phenotype
0.004 0.996 0.000
Q97.3 Female with 46,XY karyotype
0.004 0.996 0.000
Q97.2 Mosaicism, lines with various numbers of X chromosomes
0.004 0.996 0.000
Q97.1 Female with more than three X chromosomes
0.004 0.996 0.000
Q97.0 Karyotype 47,XXX
0.004 0.996 0.000
Q98.9 Sex chromosome abnormality, male phenotype, unspecified
0.004 0.996 0.000
Q98.8 Other specified sex chromosome abnormalities, male phenotype
0.004 0.996 0.000
Q98.7 Male with sex chromosome mosaicism
0.004 0.996 0.000
Q98.6 Male with structurally abnormal sex chromosome
0.004 0.996 0.000
Q98.5 Karyotype 47,XYY
0.004 0.996 0.000
Q98.4 Klinefelter's syndrome, unspecified
0.004 0.996 0.000
Q98.3 Other male with 46,XX karyotype
0.004 0.996 0.000
Q98.2 Klinefelter's syndrome, male with 46,XX karyotype
0.004 0.996 0.000
Q98.1 Klinefelter's syndrome, male with more than two X chromosomes
0.004 0.996 0.000
Q98.0 Klinefelter's syndrome karyotype 47,XXY
0.004 0.996 0.000
Q99.9 Chromosomal abnormality, unspecified
0.004 0.996 0.000
Q99.8 Other specified chromosome abnormalities
0.004 0.996 0.000
Q99.2 Fragile X chromosome
0.004 0.996 0.000
Q99.1 46,XX true hermaphrodite
0.004 0.996 0.000
Q99.0 Chimera 46,XX/46,XY
0.004 0.996 0.000
Q18 Other congenital malformations of face and neck
0.004 0.996 0.000
Q39.4 Oesophageal web
0.004 0.996 0.000
K85 Acute pancreatitis
0.000 0.996 0.004
K82.3 Fistula of gallbladder
0.000 0.996 0.004
K82.0 Obstruction of gallbladder
0.000 0.996 0.004
K83.0 Cholangitis
0.000 0.996 0.004
Q74.9 Unspecified congenital malformation of limb(s)
0.004 0.996 0.000
Q74.8 Other specified congenital malformations of limb(s)
0.004 0.996 0.000
Q74.3 Arthrogryposis multiplex congenita
0.004 0.996 0.000
Q74.1 Congenital malformation of knee
0.004 0.996 0.000
Q74.0 Other congenital malformations of upper limb(s), including shoulder girdle
0.004 0.996 0.000
Q85.9 Phakomatosis, unspecified
0.004 0.996 0.000
Q39.9 Congenital malformation of oesophagus, unspecified
0.004 0.996 0.000
Q39.8 Other congenital malformations of oesophagus
0.004 0.996 0.000
Q39.6 Diverticulum of oesophagus
0.004 0.996 0.000
Q39.5 Congenital dilatation of oesophagus
0.004 0.996 0.000
Q39.3 Congenital stenosis and stricture of oesophagus
0.004 0.996 0.000
Q39.2 Congenital tracheooesophageal fistula without atresia
0.004 0.996 0.000
Q39.1 Atresia of oesophagus with tracheooesophageal fistula
0.004 0.996 0.000
Q39.0 Atresia of oesophagus without fistula
0.004 0.996 0.000
Q43.8 Other specified congenital malformations of intestine
0.004 0.996 0.000
S42.01 Fracture of clavicle (open)
0.000 0.996 0.004
Q12 Congenital lens malformations
0.004 0.996 0.000
Q85.8 Other phakomatoses, not elsewhere classified
0.004 0.996 0.000
Q85.1 Tuberous sclerosis
0.004 0.996 0.000
Q40.9 Congenital malformation of upper alimentary tract, unspecified
0.004 0.996 0.000
Q40.8 Other specified congenital malformations of upper alimentary tract
0.004 0.996 0.000
Q40.3 Congenital malformation of stomach, unspecified
0.004 0.996 0.000
Q40.2 Other specified congenital malformations of stomach
0.004 0.996 0.000
Q40.1 Congenital hiatus hernia
0.004 0.996 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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