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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

rs7943953
log Bayes Factor = 0.0474993
Chromosome 11   position 59,224,144  (GRCh37) Explore rs7943953 on Ensembl!
Variant rs7943953 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
  
Q51 Congenital malformations of uterus and cervix
0.000 0.795 0.205
Q51.3 Bicornate uterus
0.000 0.804 0.196
Q50-Q56 Congenital malformations of genital organs
0.000 0.805 0.195
Q51.2 Other doubling of uterus
0.000 0.807 0.193
Q50 Congenital malformations of ovaries, Fallopian tubes and broad ligaments
0.000 0.812 0.188
Q50.4 Embryonic cyst of Fallopian tube
0.000 0.815 0.185
Q51.8 Other congenital malformations of uterus and cervix
0.000 0.815 0.185
Q52 Other congenital malformations of female genitalia
0.000 0.838 0.162
Q55 Other congenital malformations of male genital organs
0.000 0.839 0.161
Q51.4 Unicornate uterus
0.000 0.845 0.154
Q53 Undescended testicle
0.000 0.847 0.153
Q51.9 Congenital malformation of uterus and cervix, unspecified
0.000 0.853 0.147
Q51.7 Congenital fistulae between uterus and digestive and urinary tracts
0.000 0.853 0.147
Q51.6 Embryonic cyst of cervix
0.000 0.853 0.147
Q51.5 Agenesis and aplasia of cervix
0.000 0.853 0.147
Q51.1 Doubling of uterus with doubling of cervix and vagina
0.000 0.853 0.147
Q51.0 Agenesis and aplasia of uterus
0.000 0.853 0.147
Q55.6 Other congenital malformations of penis
0.000 0.855 0.145
Q54 Hypospadias
0.000 0.858 0.142
Q56 Indeterminate sex and pseudohermaphroditism
0.000 0.860 0.140
Q50.6 Other congenital malformatons of Fallopian tube and broad ligament
0.000 0.865 0.135
Q50.3 Other congenital malformations of ovary
0.000 0.865 0.135
Q50.2 Congenital torsion of ovary
0.000 0.865 0.135
Q50.1 Developmental ovarian cyst
0.000 0.865 0.135
Q52.5 Fusion of labia
0.000 0.868 0.132
Q50.0 Congenital absence of ovary
0.000 0.872 0.128
Q53.1 Undescended testicle, unilateral
0.000 0.875 0.125
Q50.5 Embryonic cyst of broad ligament
0.000 0.876 0.124
Q52.1 Doubling of vagina
0.000 0.876 0.124
Q52.4 Other congenital malformations of vagina
0.000 0.880 0.120
Q55.2 Other congenital malformations of testis and scrotum
0.000 0.881 0.119
Q52.9 Congenital malformation of female genitalia, unspecified
0.000 0.883 0.116
Q52.8 Other specified congenital malformations of female genitalia
0.000 0.883 0.116
Q52.7 Other congenital malformations of vulva
0.000 0.883 0.116
Q52.6 Congenital malformation of clitoris
0.000 0.883 0.116
Q52.3 Imperforate hymen
0.000 0.883 0.116
Q52.2 Congenital rectovaginal fistula
0.000 0.883 0.116
Q52.0 Congenital absence of vagina
0.000 0.883 0.116
Q55.9 Congenital malformation of male genital organ, unspecified
0.000 0.884 0.115
Q55.8 Other specified congenital malformations of male genital organs
0.000 0.884 0.115
Q55.5 Congenital absence and aplasia of penis
0.000 0.884 0.115
Q55.3 Atresia of vas deferens
0.000 0.884 0.115
Q55.1 Hypoplasia of testis and scrotum
0.000 0.884 0.115
Q54.0 Hypospadias, balanic
0.000 0.887 0.113
Q53.2 Undescended testicle, bilateral
0.000 0.890 0.110
Q53.0 Ectopic testis
0.000 0.890 0.110
Q55.0 Absence and aplasia of testis
0.000 0.894 0.106
Q53.9 Undescended testicle, unspecified
0.000 0.894 0.105
Q54.1 Hypospadias, penile
0.000 0.897 0.103
Q54.4 Congenital chordee
0.000 0.898 0.102
Q54.3 Hypospadias, perineal
0.000 0.898 0.102
Q54.2 Hypospadias, penoscrotal
0.000 0.898 0.102
Q54.8 Other hypospadias
0.000 0.899 0.101
Q56.4 Indeterminate sex, unspecified
0.000 0.899 0.100
Q56.3 Pseudohermaphroditism, unspecified
0.000 0.899 0.100
Q56.2 Female pseudohermaphroditism, not elsewhere classified
0.000 0.899 0.100
Q56.1 Male pseudohermaphroditism, not elsewhere classified
0.000 0.899 0.100
Q56.0 Hermaphroditism, not elsewhere classified
0.000 0.899 0.100
Q55.4 Other congenital malformations of vas deferens, epididymis, seminal vesicles and prostate
0.000 0.902 0.098
Q54.9 Hypospadias, unspecified
0.000 0.911 0.089
Z13.9 Special screening examination, unspecified
0.000 0.932 0.068
M22.4 Chondromalacia patellae
0.000 0.967 0.033
M23.26 Derangement of meniscus due to old tear or injury (Other and unspecified lateral meniscus)
0.000 0.977 0.023
E10.1 With ketoacidosis
0.014 0.986 0.000
E10.0 With coma
0.012 0.988 0.000
E10 Insulin-dependent diabetes mellitus
0.012 0.988 0.000
Q63.0 Accessory kidney
0.000 0.989 0.011
H53.1 Subjective visual disturbances
0.000 0.989 0.011
Q63 Other congenital malformations of kidney
0.000 0.989 0.011
Chapter XVII Congenital malformations, deformations and chromosomal abnormalities
0.000 0.990 0.010
Q60-Q64 Congenital malformations of the urinary system
0.000 0.991 0.009
E10.5 With peripheral circulatory complications
0.009 0.991 0.000
E10.3 With ophthalmic complications
0.009 0.991 0.000
Q63.1 Lobulated, fused and horseshoe kidney
0.000 0.991 0.009
E10.2 With renal complications
0.009 0.991 0.000
E10.6 With other specified complications
0.009 0.991 0.000
E10.8 With unspecified complications
0.008 0.992 0.000
Q63.8 Other specified congenital malformations of kidney
0.000 0.992 0.008
Q35-Q37 Cleft lip and cleft palate
0.000 0.992 0.008
E10.7 With multiple complications
0.008 0.992 0.000
E10.4 With neurological complications
0.008 0.992 0.000
Q63.3 Hyperplastic and giant kidney
0.000 0.992 0.008
Q63.2 Ectopic kidney
0.000 0.992 0.008
Q61.0 Congenital single renal cyst
0.008 0.992 0.000
Q63.9 Congenital malformation of kidney, unspecified
0.000 0.992 0.007
A09.0 Other and unspecified gastroenteritis and colitis of infectious origin
0.000 0.992 0.008
Q60 Renal agenesis and other reduction defects of kidney
0.000 0.992 0.007
H34.8 Other retinal vascular occlusions
0.000 0.993 0.007
Q90-Q99 Chromosomal abnormalities, not elsewhere classified
0.000 0.993 0.007
Q30-Q34 Congenital malformations of the respiratory system
0.000 0.993 0.007
Q64 Other congenital malformations of urinary system
0.000 0.993 0.007
R00.0 Tachycardia, unspecified
0.007 0.993 0.000
K09.2 Other cysts of jaw
0.000 0.993 0.007
Q35 Cleft palate
0.000 0.993 0.007
Z22.3 Carrier of other specified bacterial diseases
0.007 0.993 0.000
Q37 Cleft palate with cleft lip
0.000 0.994 0.006
E10-E14 Diabetes mellitus
0.006 0.994 0.000
Q62 Congenital obstructive defects of renal pelvis and congenital malformations of ureter
0.000 0.994 0.006
H34 Retinal vascular occlusions
0.000 0.994 0.006
Q10-Q18 Congenital malformations of eye, ear, face and neck
0.000 0.994 0.006
Q36 Cleft lip
0.000 0.994 0.006
Q60.0 Renal agenesis, unilateral
0.000 0.994 0.006
Q60.2 Renal agenesis, unspecified
0.000 0.994 0.006
Q90 Down's syndrome
0.000 0.994 0.006
C18.4 Transverse colon
0.000 0.994 0.006
E11.5 With peripheral circulatory complications
0.006 0.994 0.000
E10.9 Without complications
0.006 0.994 0.000
Q64.3 Other atresia and stenosis of urethra and bladder neck
0.000 0.994 0.005
Q35.9 Cleft palate, unspecified
0.000 0.994 0.006
H53 Visual disturbances
0.000 0.994 0.006
Q60.6 Potter's syndrome
0.000 0.994 0.005
Q60.5 Renal hypoplasia, unspecified
0.000 0.994 0.005
Q60.4 Renal hypoplasia, bilateral
0.000 0.994 0.005
Q60.1 Renal agenesis, bilateral
0.000 0.994 0.005
E11.2 With renal complications
0.006 0.994 0.000
E11 Non-insulin-dependent diabetes mellitus
0.006 0.994 0.000
H33 Retinal detachments and breaks
0.000 0.995 0.005
Q60.3 Renal hypoplasia, unilateral
0.000 0.995 0.005
Q97 Other sex chromosome abnormalities, female phenotype, not elsewhere classified
0.000 0.995 0.005
Q95 Balanced rearrangements and structural markers, not elsewhere classified
0.000 0.995 0.005
Q93 Monosomies and deletions from the autosomes, not elsewhere classified
0.000 0.995 0.005
Q92 Other trisomies and partial trisomies of the autosomes, not elsewhere classified
0.000 0.995 0.005
Q91 Edwards' syndrome and Patau's syndrome
0.000 0.995 0.005
Q34 Other congenital malformations of respiratory system
0.000 0.995 0.005
Q33 Congenital malformations of lung
0.000 0.995 0.005
Q32 Congenital malformations of trachea and bronchus
0.000 0.995 0.005
Q31 Congenital malformations of larynx
0.000 0.995 0.005
H31.8 Other specified disorders of choroid
0.000 0.995 0.005
Q30 Congenital malformations of nose
0.000 0.995 0.005
Q96 Turner's syndrome
0.000 0.995 0.005
E11.0 With coma
0.005 0.995 0.000
H53.8 Other visual disturbances
0.000 0.995 0.005
K09.8 Other cysts of oral region, not elsewhere classified
0.000 0.995 0.005
Q64.9 Congenital malformation of urinary system, unspecified
0.000 0.995 0.005
Q64.8 Other specified congenital malformations of urinary system
0.000 0.995 0.005
Q64.6 Congenital diverticulum of bladder
0.000 0.995 0.005
Q64.5 Congenital absence of bladder and urethra
0.000 0.995 0.005
Q64.2 Congenital posterior urethral valves
0.000 0.995 0.005
Q64.1 Exstrophy of urinary bladder
0.000 0.995 0.005
Q64.0 Epispadias
0.000 0.995 0.005
H30-H36 Disorders of choroid and retina
0.000 0.995 0.005
Q20-Q28 Congenital malformations of the circulatory system
0.000 0.995 0.005
Q99 Other chromosome abnormalities, not elsewhere classified
0.000 0.995 0.005
H33.0 Retinal detachment with retinal break
0.000 0.995 0.005
E11.1 With ketoacidosis
0.005 0.995 0.000
Q37.9 Unspecified cleft palate with unilateral cleft lip
0.000 0.995 0.005
Q64.4 Malformation of urachus
0.000 0.995 0.005
H71 Cholesteatoma of middle ear
0.000 0.995 0.005
H53.0 Amblyopia ex anopsia
0.000 0.995 0.005
H31 Other disorders of choroid
0.000 0.995 0.005
Q98 Other sex chromosome abnormalities, male phenotype, not elsewhere classified
0.000 0.995 0.005
H35.9 Retinal disorder, unspecified
0.000 0.995 0.005
Q35.8 (Cleft palate, unspecified, bilateral)
0.000 0.995 0.005
Q35.7 Cleft uvula
0.000 0.995 0.005
Q35.6 Cleft palate, medial
0.000 0.995 0.005
Q35.5 Cleft hard palate with cleft soft palate
0.000 0.995 0.005
Q35.4 (Cleft hard palate with cleft soft palate, bilateral)
0.000 0.995 0.005
Q35.3 Cleft soft palate
0.000 0.995 0.005
Q35.2 (Cleft soft palate, bilateral)
0.000 0.995 0.005
Q35.1 Cleft hard palate
0.000 0.995 0.005
Q35.0 (Cleft hard palate, bilateral)
0.000 0.995 0.005
K09 Cysts of oral region, not elsewhere classified
0.000 0.995 0.005
Q11 Anophthalmos, microphthalmos and macrophthalmos
0.000 0.995 0.005
Q22 Congenital malformations of pulmonary and tricuspid valves
0.000 0.995 0.005
H33.3 Retinal breaks without detachment
0.000 0.995 0.005
H33.1 Retinoschisis and retinal cysts
0.000 0.995 0.005
M22 Disorders of patella
0.000 0.995 0.005
Q90.9 Down's syndrome, unspecified
0.000 0.995 0.005
Q00-Q07 Congenital malformations of the nervous system
0.000 0.995 0.005
E14 Unspecified diabetes mellitus
0.005 0.995 0.000
H33.5 Other retinal detachments
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
Q61 Cystic kidney disease
0.003 0.995 0.002
H34.9 Retinal vascular occlusion, unspecified
0.000 0.995 0.005
E12 Malnutrition-related diabetes mellitus
0.005 0.995 0.000
Q15 Other congenital malformations of eye
0.000 0.995 0.005
Q62.8 Other congenital malformations of ureter
0.000 0.995 0.004
Q62.7 Congenital vesico-uretero-renal reflux
0.000 0.995 0.004
Q62.6 Malposition of ureter
0.000 0.995 0.004
Q62.4 Agenesis of ureter
0.000 0.995 0.004
Q62.2 Congenital megaloureter
0.000 0.995 0.004
Q62.0 Congenital hydronephrosis
0.000 0.995 0.004
H34.1 Central retinal artery occlusion
0.000 0.995 0.005
H53.5 Colour vision deficiencies
0.000 0.995 0.005
Q12 Congenital lens malformations
0.000 0.995 0.005
H34.0 Transient retinal artery occlusion
0.000 0.995 0.005
H35.4 Peripheral retinal degeneration
0.000 0.995 0.005
Q13 Congenital malformations of anterior segment of eye
0.000 0.995 0.004
Q36.9 Cleft lip, unilateral
0.000 0.995 0.004
Q36.1 Cleft lip, medial
0.000 0.995 0.004
Q36.0 Cleft lip, bilateral
0.000 0.995 0.004
Q14 Congenital malformations of posterior segment of eye
0.000 0.995 0.004
Q62.3 Other obstructive defects of renal pelvis and ureter
0.000 0.995 0.004
Q64.7 Other congenital malformations of bladder and urethra
0.001 0.995 0.004
Q22.1 Congenital pulmonary valve stenosis
0.000 0.995 0.004
Q22.5 Ebstein's anomaly
0.000 0.995 0.004
Q90.2 Trisomy 21, translocation
0.000 0.995 0.004
Q90.1 Trisomy 21, mosaicism (mitotic nondisjunction)
0.000 0.995 0.004
Q90.0 Trisomy 21, meiotic nondisjunction
0.000 0.995 0.004
Q16 Congenital malformations of ear causing impairment of hearing
0.000 0.995 0.004
H34.2 Other retinal artery occlusions
0.000 0.996 0.004
Q38-Q45 Other congenital malformations of the digestive system
0.000 0.996 0.004
Q62.1 Atresia and stenosis of ureter
0.001 0.996 0.004
H53.3 Other disorders of binocular vision
0.000 0.996 0.004
Q17 Other congenital malformations of ear
0.000 0.996 0.004
E14.5 With peripheral circulatory complications
0.004 0.996 0.000
H53.6 Night blindness
0.000 0.996 0.004
H53.9 Visual disturbance, unspecified
0.000 0.996 0.004
Q24 Other congenital malformations of heart
0.000 0.996 0.004
E11.7 With multiple complications
0.004 0.996 0.000
Q62.5 Duplication of ureter
0.000 0.996 0.004
Q11.1 Other anophthalmos
0.000 0.996 0.004
H30 Chorioretinal inflammation
0.000 0.996 0.004
Q10 Congenital malformations of eyelid, lachrymal apparatus and orbit
0.000 0.996 0.004
H35 Other retinal disorders
0.000 0.996 0.004
Q31.9 Congenital malformation of larynx, unspecified
0.000 0.996 0.004
Q31.8 Other congenital malformations of larynx
0.000 0.996 0.004
Q31.5 Congenital laryngomalacia
0.000 0.996 0.004
Q31.4 Congenital laryngeal stridor
0.000 0.996 0.004
Q31.3 Laryngocele
0.000 0.996 0.004
Q31.2 Laryngeal hypoplasia
0.000 0.996 0.004
Q31.1 Congenital subglottic stenosis
0.000 0.996 0.004
Q32.4 Other congenital malformations of bronchus
0.000 0.996 0.004
Q32.3 Congenital stenosis of bronchus
0.000 0.996 0.004
Q32.2 Congenital bronchomalacia
0.000 0.996 0.004
Q32.1 Other congenital malformations of trachea
0.000 0.996 0.004
Q32.0 Congenital tracheomalacia
0.000 0.996 0.004
Q33.9 Congenital malformation of lung, unspecified
0.000 0.996 0.004
Q33.8 Other congenital malformations of lung
0.000 0.996 0.004
Q33.6 Hypoplasia and dysplasia of lung
0.000 0.996 0.004
Q33.5 Ectopic tissue in lung
0.000 0.996 0.004
Q33.4 Congenital bronchiectasis
0.000 0.996 0.004
Q33.3 Agenesis of lung
0.000 0.996 0.004
Q33.2 Sequestration of lung
0.000 0.996 0.004
Q33.1 Accessory lobe of lung
0.000 0.996 0.004
Q33.0 Congenital cystic lung
0.000 0.996 0.004
Q34.9 Congenital malformation of respiratory system, unspecified
0.000 0.996 0.004
Q34.8 Other specified congenital malformations of respiratory system
0.000 0.996 0.004
Q34.1 Congenital cyst of mediastinum
0.000 0.996 0.004
Q34.0 Anomaly of pleura
0.000 0.996 0.004
Q91.7 Patau's syndrome, unspecified
0.000 0.996 0.004
Q91.6 Trisomy 13, translocation
0.000 0.996 0.004
Q91.5 Trisomy 13, mosaicism (mitotic nondisjunction)
0.000 0.996 0.004
Q91.4 Trisomy 13, meiotic nondisjunction
0.000 0.996 0.004
Q91.3 Edwards' syndrome, unspecified
0.000 0.996 0.004
Q91.2 Trisomy 18, translocation
0.000 0.996 0.004
Q91.1 Trisomy 18, mosaicism (mitotic nondisjunction)
0.000 0.996 0.004
Q91.0 Trisomy 18, meiotic nondisjunction
0.000 0.996 0.004
Q92.9 Trisomy and partial trisomy of autosomes, unspecified
0.000 0.996 0.004
Q92.8 Other specified trisomies and partial trisomies of autosomes
0.000 0.996 0.004
Q92.7 Triploidy and polyploidy
0.000 0.996 0.004
Q92.6 Extra marker chromosomes
0.000 0.996 0.004
Q92.5 Duplications with other complex rearrangements
0.000 0.996 0.004
Q92.4 Duplications seen only at prometaphase
0.000 0.996 0.004
Q92.3 Minor partial trisomy
0.000 0.996 0.004
Q92.2 Major partial trisomy
0.000 0.996 0.004
Q92.1 Whole chromosome trisomy, mosaicism (mitotic nondisjunction)
0.000 0.996 0.004
Q92.0 Whole chromosome trisomy, meiotic nondisjunction
0.000 0.996 0.004
Q93.9 Deletion from autosomes, unspecified
0.000 0.996 0.004
Q93.8 Other deletions from the autosomes
0.000 0.996 0.004
Q93.7 Deletions with other complex rearrangements
0.000 0.996 0.004
Q93.6 Deletions seen only at prometaphase
0.000 0.996 0.004
Q93.5 Other deletions of part of a chromosome
0.000 0.996 0.004
Q93.4 Deletion of short arm of chromosome 5
0.000 0.996 0.004
Q93.3 Deletion of short arm of chromosome 4
0.000 0.996 0.004
Q93.2 Chromosome replaced with ring or dicentric
0.000 0.996 0.004
Q93.1 Whole chromosome monosomy, mosaicism (mitotic nondisjunction)
0.000 0.996 0.004
Q93.0 Whole chromosome monosomy, meiotic nondisjunction
0.000 0.996 0.004
Q95.9 Balanced rearrangement and structural marker, unspecified
0.000 0.996 0.004
Q95.8 Other balanced rearrangements and structural markers
0.000 0.996 0.004
Q95.5 Individuals with autosomal fragile site
0.000 0.996 0.004
Q95.4 Individuals with marker heterochromatin
0.000 0.996 0.004
Q95.3 Balanced sex/autosomal rearrangement in abnormal individual
0.000 0.996 0.004
Q95.2 Balanced autosomal rearrangement in abnormal individual
0.000 0.996 0.004
Q95.1 Chromosome inversion in normal individual
0.000 0.996 0.004
Q95.0 Balanced translocation and insertion in normal individual
0.000 0.996 0.004
Q97.9 Sex chromosome abnormality, female phenotype, unspecified
0.000 0.996 0.004
Q97.8 Other specified sex chromosome abnormalities, female phenotype
0.000 0.996 0.004
Q97.3 Female with 46,XY karyotype
0.000 0.996 0.004
Q97.2 Mosaicism, lines with various numbers of X chromosomes
0.000 0.996 0.004
Q97.1 Female with more than three X chromosomes
0.000 0.996 0.004
Q97.0 Karyotype 47,XXX
0.000 0.996 0.004
E14.9 Without complications
0.004 0.996 0.000
Q31.0 Web of larynx
0.000 0.996 0.004
E13 Other specified diabetes mellitus
0.004 0.996 0.000
M22.0 Recurrent dislocation of patella
0.000 0.996 0.004
E14.0 With coma
0.004 0.996 0.000
Q30.9 Congenital malformation of nose, unspecified
0.000 0.996 0.004
Q30.8 Other congenital malformations of nose
0.000 0.996 0.004
Q30.2 Fissured, notched and cleft nose
0.000 0.996 0.004
Q30.1 Agenesis and underdevelopment of nose
0.000 0.996 0.004
Q30.0 Choanal atresia
0.000 0.996 0.004
Q21 Congenital malformations of cardiac septa
0.000 0.996 0.004
Q96.8 Other variants of Turner's syndrome
0.000 0.996 0.004
Q96.4 Mosaicism, 45,X/other cell line(s) with abnormal sex chromosome
0.000 0.996 0.004
Q96.3 Mosaicism, 45,X/46,XX or XY
0.000 0.996 0.004
Q96.2 Karyotype 46,X with abnormal sex chromosome, except iso (Xq)
0.000 0.996 0.004
Q96.1 Karyotype 46,X iso (Xq)
0.000 0.996 0.004
Q96.0 Karyotype 45,X
0.000 0.996 0.004
H32 Chorioretinal disorders in diseases classified elsewhere
0.000 0.996 0.004
Q20 Congenital malformations of cardiac chambers and connexions
0.000 0.996 0.004
E14.1 With ketoacidosis
0.004 0.996 0.000
K09.0 Developmental odontogenic cysts
0.000 0.996 0.004
Q99.9 Chromosomal abnormality, unspecified
0.000 0.996 0.004
Q99.2 Fragile X chromosome
0.000 0.996 0.004
Q99.1 46,XX true hermaphrodite
0.000 0.996 0.004
Q99.0 Chimera 46,XX/46,XY
0.000 0.996 0.004
H33.4 Traction detachment of retina
0.000 0.996 0.004
Q24.9 Congenital malformation of the heart, unspecified
0.000 0.996 0.004
Q30.3 Congenital perforated nasal septum
0.000 0.996 0.004
H31.4 Choroidal detachment
0.000 0.996 0.004
H31.2 Hereditary choroidal dystrophy
0.000 0.996 0.004
Q26 Congenital malformations of great veins
0.000 0.996 0.004
E11.8 With unspecified complications
0.004 0.996 0.000
H31.1 Choroidal degeneration
0.000 0.996 0.004
H35.5 Hereditary retinal dystrophy
0.000 0.996 0.004
Q96.9 Turner's syndrome, unspecified
0.000 0.996 0.004
Q98.9 Sex chromosome abnormality, male phenotype, unspecified
0.000 0.996 0.004
Q98.8 Other specified sex chromosome abnormalities, male phenotype
0.000 0.996 0.004
Q98.7 Male with sex chromosome mosaicism
0.000 0.996 0.004
Q98.6 Male with structurally abnormal sex chromosome
0.000 0.996 0.004
Q98.5 Karyotype 47,XYY
0.000 0.996 0.004
Q98.3 Other male with 46,XX karyotype
0.000 0.996 0.004
Q98.2 Klinefelter's syndrome, male with 46,XX karyotype
0.000 0.996 0.004
Q98.1 Klinefelter's syndrome, male with more than two X chromosomes
0.000 0.996 0.004
Q98.0 Klinefelter's syndrome karyotype 47,XXY
0.000 0.996 0.004
H31.3 Choroidal haemorrhage and rupture
0.000 0.996 0.004
Q11.3 Macrophthalmos
0.000 0.996 0.004
Q11.2 Microphthalmos
0.000 0.996 0.004
Q11.0 Cystic eyeball
0.000 0.996 0.004
Q22.9 Congenital malformation of tricuspid valve, unspecified
0.000 0.996 0.004
Q22.8 Other congenital malformations of tricuspid valve
0.000 0.996 0.004
Q22.6 Hypoplastic right heart syndrome
0.000 0.996 0.004
Q22.4 Congenital tricuspid stenosis
0.000 0.996 0.004
Q22.3 Other congenital malformations of pulmonary valve
0.000 0.996 0.004
Q22.2 Congenital pulmonary valve insufficiency
0.000 0.996 0.004
Q22.0 Pulmonary valve atresia
0.000 0.996 0.004
M22.1 Recurrent subluxation of patella
0.000 0.996 0.004
Q15.0 Congenital glaucoma
0.000 0.996 0.004
K09.1 Developmental (nonodontogenic) cysts of oral region
0.000 0.996 0.004
Q99.8 Other specified chromosome abnormalities
0.000 0.996 0.003
Q01 Encephalocele
0.000 0.996 0.004
Q00 Anencephaly and similar malformations
0.000 0.996 0.004
Q02 Microcephaly
0.000 0.996 0.004
H31.9 Disorder of choroid, unspecified
0.000 0.996 0.004
K09.9 Cyst of oral region, unspecified
0.000 0.996 0.004
E14.7 With multiple complications
0.004 0.996 0.000
Q61.8 Other cystic kidney diseases
0.002 0.996 0.002
Q61.1 Polycystic kidney, infantile type
0.002 0.996 0.002
E14.2 Withrenal complications
0.004 0.996 0.000
H65.3 Chronic mucoid otitis media
0.000 0.996 0.004
E12.9 Without complications
0.003 0.996 0.000
E12.8 With unspecified complications
0.003 0.996 0.000
E12.7 With multiple complications
0.003 0.996 0.000
E12.6 With other specified complications
0.003 0.996 0.000
E12.5 With peripheral circulatory complications
0.003 0.996 0.000
E12.4 With neurological complications
0.003 0.996 0.000
E12.3 With ophthalmic complications
0.003 0.996 0.000
E12.2 With renal complications
0.003 0.996 0.000
E12.1 With ketoacidosis
0.003 0.996 0.000
E12.0 With coma
0.003 0.996 0.000
H31.0 Chorioretinal scars
0.000 0.996 0.004
M22.9 Disorder of patella, unspecified
0.000 0.996 0.004
Q15.9 Congenital malformation of eye, unspecified
0.000 0.996 0.003
Q15.8 Other specified congenital malformations of eye
0.000 0.996 0.003
E14.8 With unspecified complications
0.004 0.996 0.000
Q12.0 Congenital cataract
0.000 0.996 0.004
Q27 Other congenital malformations of peripheral vascular system
0.000 0.996 0.004
Q61.4 Renal dysplasia
0.002 0.996 0.002
C22.0 Liver cell carcinoma
0.000 0.996 0.004
Q12.9 Congenital lens malformation, unspecified
0.000 0.996 0.003
Q12.8 Other congenital lens malformations
0.000 0.996 0.003
Q12.4 Spherophakia
0.000 0.996 0.003
Q12.3 Congenital aphakia
0.000 0.996 0.003
Q12.2 Coloboma of lens
0.000 0.996 0.003
Q12.1 Congenital displaced lens
0.000 0.996 0.003
Q24.8 Other specified congenital malformations of heart
0.000 0.996 0.004
Q06 Other congenital malformations of spinal cord
0.000 0.996 0.003
E14.4 With neurological complications
0.004 0.996 0.000
H30.9 Chorioretinal inflammation, unspecified
0.000 0.996 0.003
Q13.9 Congenital malformation of anterior segment of eye, unspecified
0.000 0.996 0.003
Q13.8 Other congenital malformations of anterior segment of eye
0.000 0.996 0.003
Q13.5 Blue sclera
0.000 0.996 0.003
Q13.4 Other congenital corneal malformations
0.000 0.996 0.003
Q13.3 Congenital corneal opacity
0.000 0.996 0.003
Q13.2 Other congenital malformations of iris
0.000 0.996 0.003
Q13.1 Absence of iris
0.000 0.996 0.003
Q13.0 Coloboma of iris
0.000 0.996 0.003
H65.2 Chronic serous otitis media
0.000 0.996 0.004
H65.4 Other chronic nonsuppurative otitis media
0.000 0.996 0.004
Q14.9 Congenital malformation of posterior segment of eye, unspecified
0.000 0.996 0.003
Q14.8 Other congenital malformations of posterior segment of eye
0.000 0.996 0.003
Q14.3 Congenital malformation of choroid
0.000 0.996 0.003
Q14.2 Congenital malformation of optic disk
0.000 0.996 0.003
Q14.0 Congenital malformation of vitreous humour
0.000 0.996 0.003
Q18 Other congenital malformations of face and neck
0.000 0.996 0.003
E11.3 With ophthalmic complications
0.004 0.996 0.000
E14.6 With other specified complications
0.003 0.996 0.000
Q21.0 Ventricular septal defect
0.000 0.996 0.004
Q98.4 Klinefelter's syndrome, unspecified
0.000 0.996 0.003
Q14.1 Congenital malformation of retina
0.000 0.996 0.003
Q61.5 Medullary cystic kidney
0.002 0.996 0.001
Q24.0 Dextrocardia
0.000 0.996 0.003
Q05 Spina bifida
0.000 0.996 0.003
H53.4 Visual field defects
0.000 0.996 0.003
Q16.5 Congenital malformation of inner ear
0.000 0.996 0.003
Q16.4 Other congenital malformations of middle ear
0.000 0.996 0.003
Q16.3 Congenital malformation of ear ossicles
0.000 0.996 0.003
Q16.2 Absence of eustachian tube
0.000 0.996 0.003
Q16.1 Congenital absence, atresia and stricture of auditory canal (external)
0.000 0.996 0.003
Q16.0 Congenital absence of (ear) auricle
0.000 0.996 0.003
Q61.9 Cystic kidney disease, unspecified
0.002 0.996 0.002
Q21.3 Tetralogy of Fallot
0.000 0.997 0.003
Q04 Other congenital malformations of brain
0.000 0.997 0.003
Q80-Q89 Other congenital malformations
0.000 0.997 0.003
Q42 Congenital absence, atresia and stenosis of large intestine
0.000 0.997 0.003
Q41 Congenital absence, atresia and stenosis of small intestine
0.000 0.997 0.003
H65 Nonsuppurative otitis media
0.000 0.997 0.003
Q44 Congenital malformations of gallbladder, bile ducts and liver
0.000 0.997 0.003
Q17.9 Congenital malformation of ear, unspecified
0.000 0.997 0.003
Q17.8 Other specified congenital malformations of ear
0.000 0.997 0.003
Q17.4 Misplaced ear
0.000 0.997 0.003
Q17.3 Other misshapen ear
0.000 0.997 0.003
Q17.2 Microtia
0.000 0.997 0.003
Q17.1 Macrotia
0.000 0.997 0.003
Q17.0 Accessory auricle
0.000 0.997 0.003
Q07 Other congenital malformations of nervous system
0.000 0.997 0.003
Q03 Congenital hydrocephalus
0.000 0.997 0.003
Q24.3 Pulmonary infundibular stenosis
0.000 0.997 0.003
Q24.2 Cor triatriatum
0.000 0.997 0.003
Q24.1 Levocardia
0.000 0.997 0.003
Q40 Other congenital malformations of upper alimentary tract
0.000 0.997 0.003
H30.8 Other chorioretinal inflammations
0.000 0.997 0.003
H30.2 Posterior cyclitis
0.000 0.997 0.003
H30.1 Disseminated chorioretinal inflammation
0.000 0.997 0.003
H30.0 Focal chorioretinal inflammation
0.000 0.997 0.003
Q10.7 Congenital malformation of orbit
0.000 0.997 0.003
Q10.6 Other congenital malformations of lachrymal apparatus
0.000 0.997 0.003
Q10.5 Congenital stenosis and stricture of lachrymal duct
0.000 0.997 0.003
Q10.4 Absence and agenesis of lachrymal apparatus
0.000 0.997 0.003
Q10.3 Other congenital malformations of eyelid
0.000 0.997 0.003
Q10.2 Congenital entropion
0.000 0.997 0.003
Q10.1 Congenital ectropion
0.000 0.997 0.003
Q24.6 Congenital heart block
0.000 0.997 0.003
Q43 Other congenital malformations of intestine
0.000 0.997 0.003
Q16.9 Congenital malformation of ear causing impairment of hearing, unspecified
0.000 0.997 0.003
X62.9 Unspecified place
0.003 0.997 0.000
H35.1 Retinopathy of prematurity
0.000 0.997 0.003
E13.8 With unspecified complications
0.003 0.997 0.000
E13.7 With multiple complications
0.003 0.997 0.000
E13.6 With other specified complications
0.003 0.997 0.000
E13.5 With peripheral circulatory complications
0.003 0.997 0.000
E13.4 With neurological complications
0.003 0.997 0.000
E13.2 With renal complications
0.003 0.997 0.000
E13.1 With ketoacidosis
0.003 0.997 0.000
E13.0 With coma
0.003 0.997 0.000
Z22 Carrier of infectious disease
0.003 0.997 0.000
Q61.3 Polycystic kidney, unspecified
0.003 0.997 0.000
Q21.4 Aortopulmonary septal defect
0.000 0.997 0.003
Q21.2 Atrioventricular septal defect
0.000 0.997 0.003
H32.8 Other chorioretinal disorders in diseases classified elsewhere
0.000 0.997 0.003
H32.0 Chorioretinal inflammation in infectious and parasitic diseases classified elsewhere
0.000 0.997 0.003
Q20.9 Congenital malformation of cardiac chambers and connexions, unspecified
0.000 0.997 0.003
Q20.8 Other congenital malformations of cardiac chambers and connexions
0.000 0.997 0.003
Q20.6 Isomerism of atrial appendages
0.000 0.997 0.003
Q20.5 Discordant atrioventricular connexion
0.000 0.997 0.003
Q20.4 Double inlet ventricle
0.000 0.997 0.003
Q20.3 Discordant ventriculoarterial connexion
0.000 0.997 0.003
Q20.2 Double outlet left ventricle
0.000 0.997 0.003
Q20.1 Double outlet right ventricle
0.000 0.997 0.003
Q20.0 Common arterial trunk
0.000 0.997 0.003
I89.0 Lymphoedema, not elsewhere classified
0.003 0.997 0.000
M22.3 Other derangements of patella
0.000 0.997 0.003
Q27.8 Other specified congenital malformations of peripheral vascular system
0.000 0.997 0.003
Q39 Congenital malformations of oesophagus
0.000 0.997 0.003
Q05.4 Unspecified spina bifida with hydrocephalus
0.000 0.997 0.003
D23.4 Skin of scalp and neck
0.003 0.997 0.000
Q17.5 Prominent ear
0.000 0.997 0.003
Q21.8 Other congenital malformations of cardiac septa
0.000 0.997 0.003
Q45 Other congenital malformations of digestive system
0.000 0.997 0.003
Q26.9 Congenital malformation of great vein, unspecified
0.000 0.997 0.003
Q26.8 Other congenital malformations of great veins
0.000 0.997 0.003
Q26.6 Portal vein-hepatic artery fistula
0.000 0.997 0.003
Q26.5 Anomalous portal venous connexion
0.000 0.997 0.003
Q26.3 Partial anomalous pulmonary venous connexion
0.000 0.997 0.003
Q26.2 Total anomalous pulmonary venous connexion
0.000 0.997 0.003
Q26.1 Persistent left superior vena cava
0.000 0.997 0.003
Q26.0 Congenital stenosis of vena cava
0.000 0.997 0.003
N50.9 Disorder of male genital organs, unspecified
0.000 0.997 0.003
Z63.4 Disappearance and death of family member
0.000 0.997 0.003
Q25 Congenital malformations of great arteries
0.000 0.997 0.003
M22.10 Recurrent subluxation of patella, unspecified knee
0.000 0.997 0.003
E07.9 Disorder of thyroid, unspecified
0.000 0.997 0.003
E13.3 With ophthalmic complications
0.003 0.997 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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