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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

rs11578508
log Bayes Factor = 0.181136
Chromosome 1   position 208,129,065  (GRCh37) Explore rs11578508 on Ensembl!
Variant rs11578508 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
  
Q61.3 Polycystic kidney, unspecified
0.000 0.697 0.303
Q61.2 Polycystic kidney, adult type
0.000 0.702 0.298
Q61 Cystic kidney disease
0.000 0.703 0.297
Q61.9 Cystic kidney disease, unspecified
0.000 0.756 0.243
Q61.4 Renal dysplasia
0.000 0.777 0.222
Q61.8 Other cystic kidney diseases
0.000 0.787 0.213
Q61.1 Polycystic kidney, infantile type
0.000 0.787 0.213
Q61.5 Medullary cystic kidney
0.000 0.789 0.210
Q61.0 Congenital single renal cyst
0.000 0.832 0.168
C62.9 Testis, unspecified
0.000 0.845 0.155
C62 Malignant neoplasm of testis
0.000 0.887 0.113
Q60-Q64 Congenital malformations of the urinary system
0.000 0.890 0.110
C62.1 Descended testis
0.000 0.897 0.103
Q60 Renal agenesis and other reduction defects of kidney
0.000 0.908 0.092
C62.0 Undescended testis
0.000 0.919 0.081
Q60.2 Renal agenesis, unspecified
0.000 0.921 0.079
Q64 Other congenital malformations of urinary system
0.000 0.924 0.076
Q60.0 Renal agenesis, unilateral
0.000 0.933 0.067
Q63 Other congenital malformations of kidney
0.000 0.933 0.067
Q60.6 Potter's syndrome
0.000 0.934 0.066
Q60.5 Renal hypoplasia, unspecified
0.000 0.934 0.066
Q60.4 Renal hypoplasia, bilateral
0.000 0.934 0.066
Q60.3 Renal hypoplasia, unilateral
0.000 0.934 0.066
Q60.1 Renal agenesis, bilateral
0.000 0.934 0.066
Q62 Congenital obstructive defects of renal pelvis and congenital malformations of ureter
0.000 0.939 0.061
M65.34 Trigger finger-Hand
0.059 0.941 0.000
Q64.7 Other congenital malformations of bladder and urethra
0.000 0.943 0.057
Q64.9 Congenital malformation of urinary system, unspecified
0.000 0.945 0.055
Q64.8 Other specified congenital malformations of urinary system
0.000 0.945 0.055
Q64.6 Congenital diverticulum of bladder
0.000 0.945 0.055
Q64.5 Congenital absence of bladder and urethra
0.000 0.945 0.055
Q64.4 Malformation of urachus
0.000 0.945 0.055
Q64.2 Congenital posterior urethral valves
0.000 0.945 0.055
Q64.1 Exstrophy of urinary bladder
0.000 0.945 0.055
Q64.0 Epispadias
0.000 0.945 0.055
Q63.1 Lobulated, fused and horseshoe kidney
0.000 0.948 0.052
Q64.3 Other atresia and stenosis of urethra and bladder neck
0.000 0.951 0.049
Q63.9 Congenital malformation of kidney, unspecified
0.000 0.952 0.048
Q63.8 Other specified congenital malformations of kidney
0.000 0.952 0.048
Q63.3 Hyperplastic and giant kidney
0.000 0.952 0.048
Q63.2 Ectopic kidney
0.000 0.953 0.047
Q62.8 Other congenital malformations of ureter
0.000 0.956 0.044
Q62.7 Congenital vesico-uretero-renal reflux
0.000 0.956 0.044
Q62.6 Malposition of ureter
0.000 0.956 0.044
Q62.4 Agenesis of ureter
0.000 0.956 0.044
Q62.2 Congenital megaloureter
0.000 0.956 0.044
Q62.0 Congenital hydronephrosis
0.000 0.956 0.044
M47.82 Other spondylosis (Cervical region)
0.000 0.956 0.044
Q62.5 Duplication of ureter
0.000 0.960 0.040
Q62.1 Atresia and stenosis of ureter
0.000 0.960 0.039
Q62.3 Other obstructive defects of renal pelvis and ureter
0.000 0.960 0.039
Q63.0 Accessory kidney
0.000 0.970 0.029
M47.8 Other spondylosis
0.000 0.972 0.028
M65.3 Trigger finger
0.026 0.974 0.000
H52.1 Myopia
0.025 0.975 0.000
M47.84 Other spondylosis (Thoracic region)
0.000 0.976 0.024
M47.87 Other spondylosis (Lumbosacral region)
0.000 0.976 0.024
M47.85 Other spondylosis (Thoracolumbar region)
0.000 0.977 0.023
M47.88 Other spondylosis (Sacral and sacrococcygeal region)
0.000 0.978 0.022
M47.86 Other spondylosis (Lumbar region)
0.000 0.979 0.021
M47.81 Other spondylosis (Occipito-atlanto-axial region)
0.000 0.980 0.020
M47.83 Other spondylosis (Cervicothoracic region)
0.000 0.980 0.019
M65.38 Trigger finger-Other
0.019 0.981 0.000
M65.37 Trigger finger-Ankle/foot
0.019 0.981 0.000
M65.36 Trigger finger-Lower leg
0.019 0.981 0.000
M65.35 Trigger finger-Pelvic/thigh
0.019 0.981 0.000
M65.33 Trigger finger-Forearm
0.019 0.981 0.000
M65.32 Trigger finger-Upper arm
0.019 0.981 0.000
M65.31 Trigger finger-Shldr region
0.019 0.981 0.000
M65.30 Trigger finger-Mult sites
0.019 0.981 0.000
C60-C63 Malignant neoplasms of male genital organs
0.000 0.982 0.018
M65.39 Trigger finger-Site unspec
0.018 0.982 0.000
M47.26 Other spondylosis with radiculopathy (Lumbar region)
0.000 0.984 0.016
M47 Spondylosis
0.000 0.984 0.016
M47.2 Other spondylosis with radiculopathy
0.000 0.984 0.016
K62.9 Disease of anus and rectum, unspecified
0.000 0.985 0.015
C60 Malignant neoplasm of penis
0.000 0.987 0.013
M47.1 Other spondylosis with myelopathy
0.000 0.987 0.013
C63 Malignant neoplasm of other and unspecified male genital organs
0.000 0.987 0.013
Chapter XVII Congenital malformations, deformations and chromosomal abnormalities
0.000 0.987 0.013
Q44.6 Cystic disease of liver
0.000 0.988 0.012
Q44 Congenital malformations of gallbladder, bile ducts and liver
0.000 0.988 0.012
M47.0 Anterior spinal and vertebral artery compression syndromes
0.000 0.988 0.012
Q38-Q45 Other congenital malformations of the digestive system
0.000 0.988 0.012
M47.12 Other spondylosis with myelopathy (Cervical region)
0.000 0.988 0.012
M47.29 Other spondylosis with radiculopathy (Site unspecified)
0.000 0.989 0.011
M47.28 Other spondylosis with radiculopathy (Sacral and sacrococcygeal region)
0.000 0.989 0.011
M47.25 Other spondylosis with radiculopathy (Thoracolumbar region)
0.000 0.989 0.011
M47.24 Other spondylosis with radiculopathy (Thoracic region)
0.000 0.989 0.011
M47.23 Other spondylosis with radiculopathy (Cervicothoracic region)
0.000 0.989 0.011
M47.21 Other spondylosis with radiculopathy (Occipito-atlanto-axial region)
0.000 0.989 0.011
M47.22 Other spondylosis with radiculopathy (Cervical region)
0.000 0.989 0.010
M47.27 Other spondylosis with radiculopathy (Lumbosacral region)
0.000 0.990 0.010
M47.20 Other spondylosis with radiculopathy (Multiple sites in spine)
0.000 0.990 0.010
Q65-Q79 Congenital malformations and deformations of the musculoskeletal system
0.000 0.990 0.010
C60.1 Glans penis
0.000 0.990 0.010
Q39 Congenital malformations of oesophagus
0.000 0.990 0.010
Q44.5 Other congenital malformations of bile ducts
0.000 0.990 0.010
C60.8 Overlapping lesion of penis
0.000 0.990 0.009
C60.2 Body of penis
0.000 0.990 0.009
M47.19 Other spondylosis with myelopathy (Site unspecified)
0.000 0.990 0.009
M47.18 Other spondylosis with myelopathy (Sacral and sacrococcygeal region)
0.000 0.990 0.009
M47.17 Other spondylosis with myelopathy (Lumbosacral region)
0.000 0.990 0.009
M47.15 Other spondylosis with myelopathy (Thoracolumbar region)
0.000 0.990 0.009
M47.13 Other spondylosis with myelopathy (Cervicothoracic region)
0.000 0.990 0.009
M47.11 Other spondylosis with myelopathy (Occipito-atlanto-axial region)
0.000 0.990 0.009
M47.10 Other spondylosis with myelopathy (Multiple sites in spine)
0.000 0.990 0.009
Q10-Q18 Congenital malformations of eye, ear, face and neck
0.000 0.991 0.009
C63.9 Male genital organ, unspecified
0.000 0.991 0.009
C63.8 Overlapping lesion of male genital organs
0.000 0.991 0.009
C63.7 Other specified male genital organs
0.000 0.991 0.009
C63.1 Spermatic cord
0.000 0.991 0.009
C63.0 Epididymis
0.000 0.991 0.009
C60.9 Penis, unspecified
0.000 0.991 0.009
Q35-Q37 Cleft lip and cleft palate
0.000 0.991 0.009
Q66 Congenital deformities of feet
0.000 0.991 0.009
Q90-Q99 Chromosomal abnormalities, not elsewhere classified
0.000 0.991 0.009
Q00-Q07 Congenital malformations of the nervous system
0.000 0.991 0.009
C60.0 Prepuce
0.000 0.991 0.009
Q30-Q34 Congenital malformations of the respiratory system
0.000 0.991 0.009
Q45 Other congenital malformations of digestive system
0.000 0.991 0.009
Q39.6 Diverticulum of oesophagus
0.000 0.991 0.009
Q44.7 Other congenital malformations of liver
0.000 0.991 0.009
Q44.3 Congenital stenosis and stricture of bile ducts
0.000 0.991 0.009
Q44.2 Atresia of bile ducts
0.000 0.991 0.009
Q44.1 Other congenital malformations of gallbladder
0.000 0.991 0.009
Q44.0 Agenesis, aplasia and hypoplasia of gallbladder
0.000 0.991 0.009
M47.09 Anterior spinal and vertebral artery compression syndromes (Site unspecified)
0.000 0.991 0.009
M47.08 Anterior spinal and vertebral artery compression syndromes (Sacral and sacrococcygeal region)
0.000 0.991 0.009
M47.07 Anterior spinal and vertebral artery compression syndromes (Lumbosacral region)
0.000 0.991 0.009
M47.06 Anterior spinal and vertebral artery compression syndromes (Lumbar region)
0.000 0.991 0.009
M47.05 Anterior spinal and vertebral artery compression syndromes (Thoracolumbar region)
0.000 0.991 0.009
M47.04 Anterior spinal and vertebral artery compression syndromes (Thoracic region)
0.000 0.991 0.009
M47.03 Anterior spinal and vertebral artery compression syndromes (Cervicothoracic region)
0.000 0.991 0.009
M47.02 Anterior spinal and vertebral artery compression syndromes (Cervical region)
0.000 0.991 0.009
M47.01 Anterior spinal and vertebral artery compression syndromes (Occipito-atlanto-axial region)
0.000 0.991 0.009
M47.00 Anterior spinal and vertebral artery compression syndromes (Multiple sites in spine)
0.000 0.991 0.009
Q42 Congenital absence, atresia and stenosis of large intestine
0.000 0.991 0.009
Q41 Congenital absence, atresia and stenosis of small intestine
0.000 0.991 0.009
C63.2 Scrotum
0.000 0.991 0.008
Q76 Congenital malformations of spine and bony thorax
0.000 0.991 0.009
M47.16 Other spondylosis with myelopathy (Lumbar region)
0.000 0.992 0.008
M43.16 Spondylolisthesis (Lumbar region)
0.000 0.992 0.008
M47.14 Other spondylosis with myelopathy (Thoracic region)
0.000 0.992 0.008
Q44.4 Choledochal cyst
0.000 0.992 0.008
Q43 Other congenital malformations of intestine
0.000 0.992 0.008
Q67 Congenital musculoskeletal deformities of head, face, spine and chest
0.000 0.992 0.008
M47.89 Other spondylosis (Site unspecified)
0.000 0.992 0.008
Q66.8 Other congenital deformities of feet
0.000 0.992 0.008
M47.80 Other spondylosis (Multiple sites in spine)
0.000 0.992 0.008
Q66.3 Other congenital varus deformities of feet
0.000 0.992 0.008
Q17 Other congenital malformations of ear
0.000 0.992 0.008
Q74 Other congenital malformations of limb(s)
0.000 0.992 0.008
Q75 Other congenital malformations of skull and face bones
0.000 0.992 0.008
Q73 Reduction defects of unspecified limb
0.000 0.992 0.008
Q72 Reduction defects of lower limb
0.000 0.992 0.008
Q71 Reduction defects of upper limb
0.000 0.992 0.008
Q70 Syndactyly
0.000 0.992 0.008
Q69 Polydactyly
0.000 0.992 0.008
Q77 Osteochondrodysplasia with defects of growth of tubular bones and spine
0.000 0.992 0.007
Q40 Other congenital malformations of upper alimentary tract
0.000 0.992 0.007
Q68 Other congenital musculoskeletal deformities
0.000 0.993 0.007
Q18 Other congenital malformations of face and neck
0.000 0.993 0.007
Q39.9 Congenital malformation of oesophagus, unspecified
0.000 0.993 0.007
Q39.8 Other congenital malformations of oesophagus
0.000 0.993 0.007
Q39.5 Congenital dilatation of oesophagus
0.000 0.993 0.007
Q39.3 Congenital stenosis and stricture of oesophagus
0.000 0.993 0.007
Q39.2 Congenital tracheooesophageal fistula without atresia
0.000 0.993 0.007
Q39.1 Atresia of oesophagus with tracheooesophageal fistula
0.000 0.993 0.007
Q39.0 Atresia of oesophagus without fistula
0.000 0.993 0.007
Q15 Other congenital malformations of eye
0.000 0.993 0.007
Q39.4 Oesophageal web
0.000 0.993 0.007
Q76.4 Other congenital malformations of spine, not associated with scoliosis
0.000 0.993 0.007
Q05 Spina bifida
0.000 0.993 0.007
Q90 Down's syndrome
0.000 0.993 0.007
Q16 Congenital malformations of ear causing impairment of hearing
0.000 0.993 0.007
Q13 Congenital malformations of anterior segment of eye
0.000 0.993 0.007
Q11 Anophthalmos, microphthalmos and macrophthalmos
0.000 0.993 0.007
Q43.0 Meckel's diverticulum
0.000 0.993 0.007
Q66.9 Congenital deformity of feet, unspecified
0.000 0.993 0.007
Q37 Cleft palate with cleft lip
0.000 0.993 0.007
Q96 Turner's syndrome
0.000 0.993 0.007
Q66.7 Pes cavus
0.000 0.993 0.007
Q79 Congenital malformations of musculoskeletal system, not elsewhere classified
0.000 0.993 0.007
Q38 Other congenital malformations of tongue, mouth and pharynx
0.000 0.993 0.007
Q36 Cleft lip
0.000 0.993 0.007
Q65 Congenital deformities of hip
0.000 0.993 0.007
Q66.6 Other congenital valgus deformities of feet
0.000 0.993 0.007
Q66.5 Congenital pes planus
0.000 0.993 0.007
Q66.4 Talipes calcaneovalgus
0.000 0.993 0.007
Q66.1 Talipes calcaneovarus
0.000 0.993 0.007
Q76.0 Spina bifida occulta
0.000 0.993 0.007
Q45.8 Other specified congenital malformations of digestive system
0.000 0.993 0.007
Q97 Other sex chromosome abnormalities, female phenotype, not elsewhere classified
0.000 0.993 0.007
Q95 Balanced rearrangements and structural markers, not elsewhere classified
0.000 0.993 0.007
Q93 Monosomies and deletions from the autosomes, not elsewhere classified
0.000 0.993 0.007
Q92 Other trisomies and partial trisomies of the autosomes, not elsewhere classified
0.000 0.993 0.007
Q91 Edwards' syndrome and Patau's syndrome
0.000 0.993 0.007
Q45.3 Other congenital malformations of pancreas and pancreatic duct
0.000 0.993 0.007
Q66.0 Talipes equinovarus
0.000 0.993 0.007
Q06 Other congenital malformations of spinal cord
0.000 0.993 0.007
Q01 Encephalocele
0.000 0.993 0.007
Q00 Anencephaly and similar malformations
0.000 0.993 0.007
Q02 Microcephaly
0.000 0.993 0.007
Q34 Other congenital malformations of respiratory system
0.000 0.993 0.006
Q33 Congenital malformations of lung
0.000 0.993 0.006
Q32 Congenital malformations of trachea and bronchus
0.000 0.993 0.006
Q30 Congenital malformations of nose
0.000 0.993 0.006
Q17.5 Prominent ear
0.000 0.993 0.007
Q03 Congenital hydrocephalus
0.000 0.993 0.007
Q45.9 Congenital malformation of digestive system, unspecified
0.000 0.993 0.007
Q45.2 Congenital pancreatic cyst
0.000 0.993 0.007
Q45.1 Annular pancreas
0.000 0.993 0.007
Q45.0 Agenesis, aplasia and hypoplasia of pancreas
0.000 0.993 0.007
Q18.1 Preauricular sinus and cyst
0.000 0.993 0.007
E22.0 Acromegaly and pituitary gigantism
0.007 0.993 0.000
Q10 Congenital malformations of eyelid, lachrymal apparatus and orbit
0.000 0.993 0.006
Q41.9 Congenital absence, atresia and stenosis of small intestine, part unspecified
0.000 0.993 0.006
Q41.8 Congenital absence, atresia and stenosis of other specified parts of small intestine
0.000 0.993 0.006
Q41.2 Congenital absence, atresia and stenosis of ileum
0.000 0.993 0.006
Q41.1 Congenital absence, atresia and stenosis of jejunum
0.000 0.993 0.006
Q41.0 Congenital absence, atresia and stenosis of duodenum
0.000 0.993 0.006
Q42.9 Congenital absence, atresia and stenosis of large intestine, part unspecified
0.000 0.993 0.006
Q42.8 Congenital absence, atresia and stenosis of other parts of large intestine
0.000 0.993 0.006
Q42.3 Congenital absence, atresia and stenosis of anus without fistula
0.000 0.993 0.006
Q42.2 Congenital absence, atresia and stenosis of anus with fistula
0.000 0.993 0.006
Q42.1 Congenital absence, atresia and stenosis of rectum without fistula
0.000 0.993 0.006
Q42.0 Congenital absence, atresia and stenosis of rectum with fistula
0.000 0.993 0.006
Q35 Cleft palate
0.000 0.993 0.006
Q80-Q89 Other congenital malformations
0.000 0.993 0.006
Q67.4 Other congenital deformities of skull, face and jaw
0.000 0.993 0.006
Q14 Congenital malformations of posterior segment of eye
0.000 0.993 0.006
Q74.0 Other congenital malformations of upper limb(s), including shoulder girdle
0.000 0.994 0.006
Q99 Other chromosome abnormalities, not elsewhere classified
0.000 0.994 0.006
Q07 Other congenital malformations of nervous system
0.000 0.994 0.006
Q67.6 Pectus excavatum
0.000 0.994 0.006
Q76.9 Congenital malformation of bony thorax, unspecified
0.000 0.994 0.006
Q76.8 Other congenital malformations of bony thorax
0.000 0.994 0.006
Q76.7 Congenital malformation of sternum
0.000 0.994 0.006
Q76.6 Other congenital malformations of ribs
0.000 0.994 0.006
Q76.5 Cervical rib
0.000 0.994 0.006
Q76.3 Congenital scoliosis due to congenital bony malformation
0.000 0.994 0.006
Q76.2 Congenital spondylolisthesis
0.000 0.994 0.006
Q31 Congenital malformations of larynx
0.000 0.994 0.006
Q04 Other congenital malformations of brain
0.000 0.994 0.006
Q12 Congenital lens malformations
0.000 0.994 0.006
Q78 Other osteochondrodysplasias
0.000 0.994 0.006
M21.07 Valgus deformity, not elsewhere classified (Ankle and foot)
0.000 0.994 0.006
Q98 Other sex chromosome abnormalities, male phenotype, not elsewhere classified
0.000 0.994 0.006
Q43.7 Persistent cloaca
0.000 0.994 0.006
Q43.6 Congenital fistula of rectum and anus
0.000 0.994 0.006
Q43.5 Ectopic anus
0.000 0.994 0.006
Q43.4 Duplication of intestine
0.000 0.994 0.006
Q43.2 Other congenital functional disorders of colon
0.000 0.994 0.006
Q76.1 Klippel-Feil syndrome
0.000 0.994 0.006
K85.1 Biliary acute pancreatitis
0.000 0.994 0.006
Q67.8 Other congenital deformities of chest
0.000 0.994 0.006
Q67.7 Pectus carinatum
0.000 0.994 0.006
Q67.3 Plagiocephaly
0.000 0.994 0.006
Q67.2 Dolichocephaly
0.000 0.994 0.006
Q67.1 Compression facies
0.000 0.994 0.006
Q67.0 Facial asymmetry
0.000 0.994 0.006
Q43.8 Other specified congenital malformations of intestine
0.000 0.994 0.006
Q43.9 Congenital malformation of intestine, unspecified
0.000 0.994 0.006
I35.1 Aortic (valve) insufficiency
0.006 0.994 0.000
Q05.9 Spina bifida, unspecified
0.000 0.994 0.006
Q17.9 Congenital malformation of ear, unspecified
0.000 0.994 0.006
Q17.8 Other specified congenital malformations of ear
0.000 0.994 0.006
Q17.4 Misplaced ear
0.000 0.994 0.006
Q17.3 Other misshapen ear
0.000 0.994 0.006
Q17.2 Microtia
0.000 0.994 0.006
Q17.1 Macrotia
0.000 0.994 0.006
Q17.0 Accessory auricle
0.000 0.994 0.006
Q74.9 Unspecified congenital malformation of limb(s)
0.000 0.994 0.006
Q74.8 Other specified congenital malformations of limb(s)
0.000 0.994 0.006
Q74.3 Arthrogryposis multiplex congenita
0.000 0.994 0.006
Q15.0 Congenital glaucoma
0.000 0.994 0.006
I49.0 Ventricular fibrillation and flutter
0.006 0.994 0.000
Q74.1 Congenital malformation of knee
0.000 0.994 0.006
Q69.9 Polydactyly, unspecified
0.000 0.994 0.006
Q69.2 Accessory toe(s)
0.000 0.994 0.006
Q69.1 Accessory thumb(s)
0.000 0.994 0.006
Q69.0 Accessory finger(s)
0.000 0.994 0.006
Q70.9 Syndactyly, unspecified
0.000 0.994 0.006
Q70.4 Polysyndactyly
0.000 0.994 0.006
Q70.3 Webbed toes
0.000 0.994 0.006
Q70.2 Fused toes
0.000 0.994 0.006
Q70.1 Webbed fingers
0.000 0.994 0.006
Q70.0 Fused fingers
0.000 0.994 0.006
Q71.9 Reduction defect of upper limb, unspecified
0.000 0.994 0.006
Q71.8 Other reduction defects of upper limb(s)
0.000 0.994 0.006
Q71.6 Lobster-claw hand
0.000 0.994 0.006
Q71.5 Longitudinal reduction defect of ulna
0.000 0.994 0.006
Q71.4 Longitudinal reduction defect of radius
0.000 0.994 0.006
Q71.3 Congenital absence of hand and finger(s)
0.000 0.994 0.006
Q71.2 Congenital absence of both forearm and hand
0.000 0.994 0.006
Q71.1 Congenital absence of upper arm and forearm with hand present
0.000 0.994 0.006
Q71.0 Congenital complete absence of upper limb(s)
0.000 0.994 0.006
Q72.9 Reduction defect of lower limb, unspecified
0.000 0.994 0.006
Q72.8 Other reduction defects of lower limb(s)
0.000 0.994 0.006
Q72.7 Split foot
0.000 0.994 0.006
Q72.6 Longitudinal reduction defect of fibula
0.000 0.994 0.006
Q72.5 Longitudinal reduction defect of tibia
0.000 0.994 0.006
Q72.4 Longitudinal reduction defect of femur
0.000 0.994 0.006
Q72.3 Congenital absence of foot and toe(s)
0.000 0.994 0.006
Q72.2 Congenital absence of both lower leg and foot
0.000 0.994 0.006
Q72.1 Congenital absence of thigh and lower leg with foot present
0.000 0.994 0.006
Q72.0 Congenital complete absence of lower limb(s)
0.000 0.994 0.006
Q73.8 Other reduction defects of unspecified limb(s)
0.000 0.994 0.006
Q73.1 Phocomelia, unspecified limb(s)
0.000 0.994 0.006
Q73.0 Congenital absence of unspecified limb(s)
0.000 0.994 0.006
Q75.9 Congenital malformation of skull and face bones, unspecified
0.000 0.994 0.006
Q75.8 Other specified congenital malformations of skull and face bones
0.000 0.994 0.006
Q75.5 Oculomandibular dysostosis
0.000 0.994 0.006
Q75.4 Mandibulofacial dysostosis
0.000 0.994 0.006
Q75.3 Macrocephaly
0.000 0.994 0.006
Q75.2 Hypertelorism
0.000 0.994 0.006
Q75.1 Craniofacial dysostosis
0.000 0.994 0.006
Q75.0 Craniosynostosis
0.000 0.994 0.006
Q67.5 Congenital deformity of spine
0.000 0.994 0.006
Q77.9 Osteochondrodysplasia with defects of growth of tubular bones and spine, unspecified
0.000 0.994 0.006
Q77.8 Other osteochondrodysplasia with defects of growth of tubular bones and spine
0.000 0.994 0.006
Q77.7 Spondyloepiphyseal dysplasia
0.000 0.994 0.006
Q77.6 Chondroectodermal dysplasia
0.000 0.994 0.006
Q77.5 Diastrophic dysplasia
0.000 0.994 0.006
Q77.3 Chondrodysplasia punctata
0.000 0.994 0.006
Q77.2 Short rib syndrome
0.000 0.994 0.006
Q77.1 Thanatophoric short stature
0.000 0.994 0.006
Q77.0 Achondrogenesis
0.000 0.994 0.006
Q66.2 Metatarsus varus
0.000 0.994 0.005
Q79.8 Other congenital malformations of musculoskeletal system
0.000 0.994 0.006
Q40.9 Congenital malformation of upper alimentary tract, unspecified
0.000 0.994 0.005
Q40.8 Other specified congenital malformations of upper alimentary tract
0.000 0.994 0.005
Q40.0 Congenital hypertrophic pyloric stenosis
0.000 0.994 0.005
Q77.4 Achondroplasia
0.000 0.994 0.005
E22 Hyperfunction of pituitary gland
0.006 0.994 0.000
I49.9 Cardiac arrhythmia, unspecified
0.006 0.994 0.000
Q68.5 Congenital bowing of long bones of leg, unspecified
0.000 0.994 0.005
Q68.4 Congenital bowing of tibia and fibula
0.000 0.994 0.005
Q68.3 Congenital bowing of femur
0.000 0.994 0.005
Q68.2 Congenital deformity of knee
0.000 0.994 0.005
Q68.1 Congenital deformity of hand
0.000 0.994 0.005
Q68.0 Congenital deformity of sternocleidomastoid muscle
0.000 0.994 0.005
Q18.9 Congenital malformation of face and neck, unspecified
0.000 0.994 0.005
Q18.8 Other specified congenital malformations of face and neck
0.000 0.994 0.005
Q18.7 Microcheilia
0.000 0.994 0.005
Q18.6 Macrocheilia
0.000 0.994 0.005
Q18.5 Microstomia
0.000 0.994 0.005
Q18.4 Macrostomia
0.000 0.994 0.005
Q18.3 Webbing of neck
0.000 0.994 0.005
Q18.2 Other branchial cleft malformations
0.000 0.994 0.005
Q90.9 Down's syndrome, unspecified
0.000 0.994 0.005
Q05.4 Unspecified spina bifida with hydrocephalus
0.000 0.994 0.005
Q15.9 Congenital malformation of eye, unspecified
0.000 0.994 0.005
Q15.8 Other specified congenital malformations of eye
0.000 0.994 0.005
Q40.3 Congenital malformation of stomach, unspecified
0.000 0.994 0.005
Q96.9 Turner's syndrome, unspecified
0.000 0.994 0.005
Q43.1 Hirschsprung's disease
0.000 0.994 0.005
Q37.9 Unspecified cleft palate with unilateral cleft lip
0.000 0.995 0.005
E22.2 Syndrome of inappropriate secretion of antidiuretic hormone
0.005 0.995 0.000
N42.9 Disorder of prostate, unspecified
0.005 0.995 0.000
Q43.3 Congenital malformations of intestinal fixation
0.000 0.995 0.005
Q68.8 Other specified congenital musculoskeletal deformities
0.000 0.995 0.005
Q40.2 Other specified congenital malformations of stomach
0.000 0.995 0.005
Q05.8 Sacral spina bifida without hydrocephalus
0.000 0.995 0.005
Q05.6 Thoracic spina bifida without hydrocephalus
0.000 0.995 0.005
Q05.5 Cervical spina bifida without hydrocephalus
0.000 0.995 0.005
Q05.3 Sacral spina bifida with hydrocephalus
0.000 0.995 0.005
Q05.2 Lumbar spina bifida with hydrocephalus
0.000 0.995 0.005
Q05.1 Thoracic spina bifida with hydrocephalus
0.000 0.995 0.005
Q05.0 Cervical spina bifida with hydrocephalus
0.000 0.995 0.005
Q83 Congenital malformations of breast
0.000 0.995 0.005
Q90.2 Trisomy 21, translocation
0.000 0.995 0.005
Q90.1 Trisomy 21, mosaicism (mitotic nondisjunction)
0.000 0.995 0.005
Q90.0 Trisomy 21, meiotic nondisjunction
0.000 0.995 0.005
Q11.3 Macrophthalmos
0.000 0.995 0.005
Q11.2 Microphthalmos
0.000 0.995 0.005
Q11.1 Other anophthalmos
0.000 0.995 0.005
Q11.0 Cystic eyeball
0.000 0.995 0.005
Q13.9 Congenital malformation of anterior segment of eye, unspecified
0.000 0.995 0.005
Q13.8 Other congenital malformations of anterior segment of eye
0.000 0.995 0.005
Q13.5 Blue sclera
0.000 0.995 0.005
Q13.4 Other congenital corneal malformations
0.000 0.995 0.005
Q13.3 Congenital corneal opacity
0.000 0.995 0.005
Q13.2 Other congenital malformations of iris
0.000 0.995 0.005
Q13.1 Absence of iris
0.000 0.995 0.005
Q13.0 Coloboma of iris
0.000 0.995 0.005
Q16.9 Congenital malformation of ear causing impairment of hearing, unspecified
0.000 0.995 0.005
Q16.5 Congenital malformation of inner ear
0.000 0.995 0.005
Q16.4 Other congenital malformations of middle ear
0.000 0.995 0.005
Q16.3 Congenital malformation of ear ossicles
0.000 0.995 0.005
Q16.2 Absence of eustachian tube
0.000 0.995 0.005
Q16.1 Congenital absence, atresia and stricture of auditory canal (external)
0.000 0.995 0.005
Q16.0 Congenital absence of (ear) auricle
0.000 0.995 0.005
Q37.8 Unspecified cleft palate with bilateral cleft lip
0.000 0.995 0.005
Q37.5 Cleft hard and soft palate with unilateral cleft lip
0.000 0.995 0.005
Q37.4 Cleft hard and soft palate with bilateral cleft lip
0.000 0.995 0.005
Q37.3 Cleft soft palate with unilateral cleft lip
0.000 0.995 0.005
Q37.2 Cleft soft palate with bilateral cleft lip
0.000 0.995 0.005
Q37.1 Cleft hard palate with unilateral cleft lip
0.000 0.995 0.005
Q37.0 Cleft hard palate with bilateral cleft lip
0.000 0.995 0.005
Q96.8 Other variants of Turner's syndrome
0.000 0.995 0.005
Q96.4 Mosaicism, 45,X/other cell line(s) with abnormal sex chromosome
0.000 0.995 0.005
Q96.3 Mosaicism, 45,X/46,XX or XY
0.000 0.995 0.005
Q96.2 Karyotype 46,X with abnormal sex chromosome, except iso (Xq)
0.000 0.995 0.005
Q96.1 Karyotype 46,X iso (Xq)
0.000 0.995 0.005
Q96.0 Karyotype 45,X
0.000 0.995 0.005
Q74.2 Other congenital malformations of lower limb(s), including pelvic girdle
0.000 0.995 0.005
Q82 Other congenital malformations of skin
0.000 0.995 0.005
Q79.9 Congenital malformation of musculoskeletal system, unspecified
0.000 0.995 0.005
Q79.5 Other congenital malformations of abdominal wall
0.000 0.995 0.005
Q79.4 Prune belly syndrome
0.000 0.995 0.005
Q79.3 Gastroschisis
0.000 0.995 0.005
Q79.2 Exomphalos
0.000 0.995 0.005
Q79.1 Other congenital malformations of diaphragm
0.000 0.995 0.005
Q38.5 Congenital malformations of palate, not elsewhere classified
0.000 0.995 0.005
Q38.4 Congenital malformations of salivary glands and ducts
0.000 0.995 0.005
Q38.3 Other congenital malformations of tongue
0.000 0.995 0.005
Q38.2 Macroglossia
0.000 0.995 0.005
Q38.0 Congenital malformations of lips, not elsewhere classified
0.000 0.995 0.005
Q36.9 Cleft lip, unilateral
0.000 0.995 0.005
Q36.1 Cleft lip, medial
0.000 0.995 0.005
Q36.0 Cleft lip, bilateral
0.000 0.995 0.005
Q65.9 Congenital deformity of hip, unspecified
0.000 0.995 0.005
Q65.6 Unstable hip
0.000 0.995 0.005
Q65.5 Congenital subluxation of hip, unspecified
0.000 0.995 0.005
Q65.4 Congenital subluxation of hip, bilateral
0.000 0.995 0.005
Q65.3 Congenital subluxation of hip, unilateral
0.000 0.995 0.005
Q65.2 Congenital dislocation of hip, unspecified
0.000 0.995 0.005
Q65.0 Congenital dislocation of hip, unilateral
0.000 0.995 0.005
Q38.7 Pharyngeal pouch
0.000 0.995 0.005
Q91.7 Patau's syndrome, unspecified
0.000 0.995 0.005
Q91.6 Trisomy 13, translocation
0.000 0.995 0.005
Q91.5 Trisomy 13, mosaicism (mitotic nondisjunction)
0.000 0.995 0.005
Q91.4 Trisomy 13, meiotic nondisjunction
0.000 0.995 0.005
Q91.3 Edwards' syndrome, unspecified
0.000 0.995 0.005
Q91.2 Trisomy 18, translocation
0.000 0.995 0.005
Q91.1 Trisomy 18, mosaicism (mitotic nondisjunction)
0.000 0.995 0.005
Q91.0 Trisomy 18, meiotic nondisjunction
0.000 0.995 0.005
Q92.9 Trisomy and partial trisomy of autosomes, unspecified
0.000 0.995 0.005
Q92.8 Other specified trisomies and partial trisomies of autosomes
0.000 0.995 0.005
Q92.7 Triploidy and polyploidy
0.000 0.995 0.005
Q92.6 Extra marker chromosomes
0.000 0.995 0.005
Q92.5 Duplications with other complex rearrangements
0.000 0.995 0.005
Q92.4 Duplications seen only at prometaphase
0.000 0.995 0.005
Q92.3 Minor partial trisomy
0.000 0.995 0.005
Q92.2 Major partial trisomy
0.000 0.995 0.005
Q92.1 Whole chromosome trisomy, mosaicism (mitotic nondisjunction)
0.000 0.995 0.005
Q92.0 Whole chromosome trisomy, meiotic nondisjunction
0.000 0.995 0.005
Q93.9 Deletion from autosomes, unspecified
0.000 0.995 0.005
Q93.8 Other deletions from the autosomes
0.000 0.995 0.005
Q93.7 Deletions with other complex rearrangements
0.000 0.995 0.005
Q93.6 Deletions seen only at prometaphase
0.000 0.995 0.005
Q93.5 Other deletions of part of a chromosome
0.000 0.995 0.005
Q93.4 Deletion of short arm of chromosome 5
0.000 0.995 0.005
Q93.3 Deletion of short arm of chromosome 4
0.000 0.995 0.005
Q93.2 Chromosome replaced with ring or dicentric
0.000 0.995 0.005
Q93.1 Whole chromosome monosomy, mosaicism (mitotic nondisjunction)
0.000 0.995 0.005
Q93.0 Whole chromosome monosomy, meiotic nondisjunction
0.000 0.995 0.005
Q95.9 Balanced rearrangement and structural marker, unspecified
0.000 0.995 0.005
Q95.8 Other balanced rearrangements and structural markers
0.000 0.995 0.005
Q95.5 Individuals with autosomal fragile site
0.000 0.995 0.005
Q95.4 Individuals with marker heterochromatin
0.000 0.995 0.005
Q95.3 Balanced sex/autosomal rearrangement in abnormal individual
0.000 0.995 0.005
Q95.2 Balanced autosomal rearrangement in abnormal individual
0.000 0.995 0.005
Q95.1 Chromosome inversion in normal individual
0.000 0.995 0.005
Q95.0 Balanced translocation and insertion in normal individual
0.000 0.995 0.005
Q97.9 Sex chromosome abnormality, female phenotype, unspecified
0.000 0.995 0.005
Q97.8 Other specified sex chromosome abnormalities, female phenotype
0.000 0.995 0.005
Q97.3 Female with 46,XY karyotype
0.000 0.995 0.005
Q97.2 Mosaicism, lines with various numbers of X chromosomes
0.000 0.995 0.005
Q97.1 Female with more than three X chromosomes
0.000 0.995 0.005
Q97.0 Karyotype 47,XXX
0.000 0.995 0.005
Q00.2 Iniencephaly
0.000 0.995 0.005
Q00.1 Craniorachischisis
0.000 0.995 0.005
Q00.0 Anencephaly
0.000 0.995 0.005
Q01.9 Encephalocele, unspecified
0.000 0.995 0.005
Q01.8 Encephalocele of other sites
0.000 0.995 0.005
Q01.2 Occipital encephalocele
0.000 0.995 0.005
Q01.1 Nasofrontal encephalocele
0.000 0.995 0.005
Q01.0 Frontal encephalocele
0.000 0.995 0.005
Q06.9 Congenital malformation of spinal cord, unspecified
0.000 0.995 0.005
Q06.8 Other specified congenital malformations of spinal cord
0.000 0.995 0.005
Q06.4 Hydromyelia
0.000 0.995 0.005
Q06.3 Other congenital cauda equina malformations
0.000 0.995 0.005
Q06.2 Diastematomyelia
0.000 0.995 0.005
Q06.1 Hypoplasia and dysplasia of spinal cord
0.000 0.995 0.005
Q06.0 Amyelia
0.000 0.995 0.005
Q30.9 Congenital malformation of nose, unspecified
0.000 0.995 0.005
Q30.8 Other congenital malformations of nose
0.000 0.995 0.005
Q30.3 Congenital perforated nasal septum
0.000 0.995 0.005
Q30.2 Fissured, notched and cleft nose
0.000 0.995 0.005
Q30.1 Agenesis and underdevelopment of nose
0.000 0.995 0.005
Q30.0 Choanal atresia
0.000 0.995 0.005
Q32.4 Other congenital malformations of bronchus
0.000 0.995 0.005
Q32.3 Congenital stenosis of bronchus
0.000 0.995 0.005
Q32.2 Congenital bronchomalacia
0.000 0.995 0.005
Q32.1 Other congenital malformations of trachea
0.000 0.995 0.005
Q32.0 Congenital tracheomalacia
0.000 0.995 0.005
Q33.9 Congenital malformation of lung, unspecified
0.000 0.995 0.005

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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