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Variant-specific associations

rs6499640
log Bayes Factor = <0.0001
Chromosome 16   position 53,769,677  (GRCh37) Explore rs6499640 on Ensembl!
Variant rs6499640 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 0.952 0.048
Q61.2 Polycystic kidney, adult type
0.000 0.952 0.047
Q61 Cystic kidney disease
0.000 0.953 0.047
Q60-Q64 Congenital malformations of the urinary system
0.000 0.961 0.039
Q61.4 Renal dysplasia
0.000 0.963 0.037
Q61.9 Cystic kidney disease, unspecified
0.000 0.965 0.035
Q60 Renal agenesis and other reduction defects of kidney
0.000 0.966 0.034
Q61.8 Other cystic kidney diseases
0.000 0.966 0.034
Q61.1 Polycystic kidney, infantile type
0.000 0.966 0.034
Q63 Other congenital malformations of kidney
0.000 0.967 0.033
Q63.2 Ectopic kidney
0.000 0.968 0.032
Q61.5 Medullary cystic kidney
0.000 0.969 0.031
Q62 Congenital obstructive defects of renal pelvis and congenital malformations of ureter
0.000 0.969 0.031
Q60.0 Renal agenesis, unilateral
0.000 0.970 0.030
Q60.2 Renal agenesis, unspecified
0.000 0.973 0.027
Q64 Other congenital malformations of urinary system
0.000 0.973 0.026
Q62.5 Duplication of ureter
0.000 0.974 0.026
Q60.6 Potter's syndrome
0.000 0.975 0.025
Q60.5 Renal hypoplasia, unspecified
0.000 0.975 0.025
Q60.4 Renal hypoplasia, bilateral
0.000 0.975 0.025
Q60.3 Renal hypoplasia, unilateral
0.000 0.975 0.025
Q60.1 Renal agenesis, bilateral
0.000 0.975 0.025
Q63.8 Other specified congenital malformations of kidney
0.000 0.975 0.025
Q63.3 Hyperplastic and giant kidney
0.000 0.976 0.024
Q62.2 Congenital megaloureter
0.000 0.977 0.023
Q62.3 Other obstructive defects of renal pelvis and ureter
0.000 0.977 0.023
Q62.8 Other congenital malformations of ureter
0.000 0.977 0.023
Q62.7 Congenital vesico-uretero-renal reflux
0.000 0.977 0.023
Q62.6 Malposition of ureter
0.000 0.977 0.023
Q62.4 Agenesis of ureter
0.000 0.977 0.023
Q62.0 Congenital hydronephrosis
0.000 0.977 0.023
Q63.9 Congenital malformation of kidney, unspecified
0.000 0.977 0.022
Q62.1 Atresia and stenosis of ureter
0.000 0.978 0.022
Q63.0 Accessory kidney
0.000 0.978 0.022
Q64.7 Other congenital malformations of bladder and urethra
0.000 0.980 0.020
Q63.1 Lobulated, fused and horseshoe kidney
0.000 0.981 0.019
Q64.9 Congenital malformation of urinary system, unspecified
0.000 0.981 0.019
Q64.8 Other specified congenital malformations of urinary system
0.000 0.981 0.019
Q64.6 Congenital diverticulum of bladder
0.000 0.981 0.019
Q64.5 Congenital absence of bladder and urethra
0.000 0.981 0.019
Q64.4 Malformation of urachus
0.000 0.981 0.019
Q64.2 Congenital posterior urethral valves
0.000 0.981 0.019
Q64.1 Exstrophy of urinary bladder
0.000 0.981 0.019
Q64.0 Epispadias
0.000 0.981 0.019
Q64.3 Other atresia and stenosis of urethra and bladder neck
0.000 0.983 0.016
N88.8 Other specified noninflammatory disorders of cervix uteri
0.000 0.984 0.016
Q28.2 Arteriovenous malformation of cerebral vessels
0.000 0.985 0.015
Q61.0 Congenital single renal cyst
0.001 0.988 0.011
Q28 Other congenital malformations of circulatory system
0.000 0.989 0.011
O36.0 Maternal care for rhesus isoimmunisation
0.000 0.990 0.010
O40 Polyhydramnios
0.000 0.990 0.010
Q20-Q28 Congenital malformations of the circulatory system
0.000 0.991 0.009
R63.0 Anorexia
0.000 0.991 0.009
Chapter XVII Congenital malformations, deformations and chromosomal abnormalities
0.000 0.991 0.009
Q28.0 Arteriovenous malformation of precerebral vessels
0.000 0.992 0.008
Y45.3 Other nonsteroidal anti-inflammatory drugs [NSAID]
0.000 0.992 0.008
Q28.9 Congenital malformation of circulatory system, unspecified
0.000 0.992 0.008
Q28.8 Other specified congenital malformations of circulatory system
0.000 0.992 0.008
Q28.1 Other malformations of precerebral vessels
0.000 0.992 0.008
Q25 Congenital malformations of great arteries
0.000 0.992 0.008
C91.1 Chronic lymphocytic leukaemia
0.008 0.992 0.000
R63 Symptoms and signs concerning food and fluid intake
0.000 0.993 0.007
Q90-Q99 Chromosomal abnormalities, not elsewhere classified
0.000 0.993 0.007
R63.3 Feeding difficulties and mismanagement
0.000 0.993 0.007
Q28.3 Other malformations of cerebral vessels
0.000 0.993 0.007
I61.9 Intracerebral haemorrhage, unspecified
0.000 0.993 0.007
Q25.4 Other congenital malformations of aorta
0.000 0.993 0.007
Q20 Congenital malformations of cardiac chambers and connexions
0.000 0.994 0.006
Q25.3 Stenosis of aorta
0.000 0.994 0.006
Q30-Q34 Congenital malformations of the respiratory system
0.000 0.994 0.006
Q35-Q37 Cleft lip and cleft palate
0.000 0.994 0.006
R63.5 Abnormal weight gain
0.000 0.994 0.006
M31.6 Other giant cell arteritis
0.000 0.994 0.006
Q38-Q45 Other congenital malformations of the digestive system
0.000 0.994 0.006
Q25.1 Coarctation of aorta
0.000 0.994 0.006
R63.1 Polydipsia
0.000 0.994 0.006
Q26 Congenital malformations of great veins
0.000 0.994 0.006
Q90 Down's syndrome
0.000 0.994 0.006
Q00-Q07 Congenital malformations of the nervous system
0.000 0.994 0.006
Q24 Other congenital malformations of heart
0.000 0.994 0.006
D26.1 Corpus uteri
0.006 0.994 0.000
E83.4 Disorders of magnesium metabolism
0.000 0.994 0.006
Q10-Q18 Congenital malformations of eye, ear, face and neck
0.000 0.994 0.006
Q44 Congenital malformations of gallbladder, bile ducts and liver
0.000 0.994 0.006
Q23 Congenital malformations of aortic and mitral valves
0.000 0.994 0.006
Q25.9 Congenital malformation of great arteries, unspecified
0.000 0.994 0.006
Q25.8 Other congenital malformations of great arteries
0.000 0.994 0.006
Q25.5 Atresia of pulmonary artery
0.000 0.994 0.006
Q25.2 Atresia of aorta
0.000 0.994 0.006
R63.8 Other symptoms and signs concerning food and fluid intake
0.000 0.994 0.006
Q99 Other chromosome abnormalities, not elsewhere classified
0.000 0.994 0.006
Q25.7 Other congenital malformations of pulmonary artery
0.000 0.994 0.006
Q27 Other congenital malformations of peripheral vascular system
0.000 0.994 0.006
Q96 Turner's syndrome
0.000 0.994 0.005
C21.0 Anus, unspecified
0.006 0.994 0.000
R63.2 Polyphagia
0.000 0.994 0.005
Q22 Congenital malformations of pulmonary and tricuspid valves
0.000 0.994 0.005
R63.6 Insufficient intake of food and water due to self neglect
0.000 0.995 0.005
Q25.0 Patent ductus arteriosus
0.000 0.995 0.005
Q25.6 Stenosis of pulmonary artery
0.000 0.995 0.005
Q10 Congenital malformations of eyelid, lachrymal apparatus and orbit
0.000 0.995 0.005
Q90.9 Down's syndrome, unspecified
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
O69.1 Labour and delivery complicated by cord around neck, with compression
0.005 0.995 0.000
Q44.6 Cystic disease of liver
0.000 0.995 0.005
Q39 Congenital malformations of oesophagus
0.000 0.995 0.005
R63.4 Abnormal weight loss
0.000 0.995 0.005
K65.0 Acute peritonitis
0.000 0.995 0.005
Q10.0 Congenital ptosis
0.000 0.995 0.005
Q39.4 Oesophageal web
0.000 0.995 0.005
Q31 Congenital malformations of larynx
0.000 0.995 0.005
Q98 Other sex chromosome abnormalities, male phenotype, not elsewhere classified
0.000 0.995 0.005
Q05 Spina bifida
0.000 0.995 0.005
Q44.7 Other congenital malformations of liver
0.000 0.995 0.005
Q20.9 Congenital malformation of cardiac chambers and connexions, unspecified
0.000 0.995 0.005
Q20.8 Other congenital malformations of cardiac chambers and connexions
0.000 0.995 0.005
Q20.6 Isomerism of atrial appendages
0.000 0.995 0.005
Q20.5 Discordant atrioventricular connexion
0.000 0.995 0.005
Q20.4 Double inlet ventricle
0.000 0.995 0.005
Q20.3 Discordant ventriculoarterial connexion
0.000 0.995 0.005
Q20.2 Double outlet left ventricle
0.000 0.995 0.005
Q20.1 Double outlet right ventricle
0.000 0.995 0.005
Q20.0 Common arterial trunk
0.000 0.995 0.005
Q40 Other congenital malformations of upper alimentary tract
0.000 0.995 0.005
H90.5 Sensorineural hearing loss, unspecified
0.005 0.995 0.000
Q15 Other congenital malformations of eye
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
Q37 Cleft palate with cleft lip
0.000 0.995 0.005
Q36 Cleft lip
0.000 0.995 0.005
Q21 Congenital malformations of cardiac septa
0.000 0.995 0.005
Q23.0 Congenital stenosis of aortic valve
0.000 0.995 0.005
Q24.5 Malformation of coronary vessels
0.000 0.995 0.005
Q44.5 Other congenital malformations of bile ducts
0.000 0.995 0.005
Q99.8 Other specified chromosome abnormalities
0.000 0.995 0.005
Q45 Other congenital malformations of digestive system
0.000 0.995 0.005
Q42 Congenital absence, atresia and stenosis of large intestine
0.000 0.995 0.005
Q41 Congenital absence, atresia and stenosis of small intestine
0.000 0.995 0.005
Q24.8 Other specified congenital malformations of heart
0.000 0.995 0.005
Q26.9 Congenital malformation of great vein, unspecified
0.000 0.995 0.004
Q26.8 Other congenital malformations of great veins
0.000 0.995 0.004
Q26.6 Portal vein-hepatic artery fistula
0.000 0.995 0.004
Q26.5 Anomalous portal venous connexion
0.000 0.995 0.004
Q26.3 Partial anomalous pulmonary venous connexion
0.000 0.995 0.004
Q26.2 Total anomalous pulmonary venous connexion
0.000 0.995 0.004
Q26.1 Persistent left superior vena cava
0.000 0.995 0.004
Q26.0 Congenital stenosis of vena cava
0.000 0.995 0.004
Q30 Congenital malformations of nose
0.000 0.995 0.004
Q27.3 Peripheral arteriovenous malformation
0.000 0.995 0.005
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
Q35 Cleft palate
0.000 0.995 0.004
Q06 Other congenital malformations of spinal cord
0.000 0.995 0.004
Q01 Encephalocele
0.000 0.995 0.004
Q00 Anencephaly and similar malformations
0.000 0.995 0.004
Q02 Microcephaly
0.000 0.995 0.004
C21.1 Anal canal
0.005 0.995 0.000
L05.9 Pilonidal cyst without abscess
0.005 0.995 0.000
Q24.3 Pulmonary infundibular stenosis
0.000 0.995 0.004
Q24.2 Cor triatriatum
0.000 0.995 0.004
Q24.1 Levocardia
0.000 0.995 0.004
Q44.4 Choledochal cyst
0.000 0.995 0.004
Q13 Congenital malformations of anterior segment of eye
0.000 0.995 0.004
Q24.6 Congenital heart block
0.000 0.995 0.004
Q44.3 Congenital stenosis and stricture of bile ducts
0.000 0.995 0.004
Q44.2 Atresia of bile ducts
0.000 0.995 0.004
Q44.1 Other congenital malformations of gallbladder
0.000 0.995 0.004
Q44.0 Agenesis, aplasia and hypoplasia of gallbladder
0.000 0.995 0.004
Q04 Other congenital malformations of brain
0.000 0.995 0.004
Q17 Other congenital malformations of ear
0.000 0.995 0.004
Q24.0 Dextrocardia
0.000 0.996 0.004
Q96.9 Turner's syndrome, unspecified
0.000 0.996 0.004
Q14 Congenital malformations of posterior segment of eye
0.000 0.996 0.004
Q24.4 Congenital subaortic stenosis
0.000 0.996 0.004
Q23.9 Congenital malformation of aortic and mitral valves, unspecified
0.000 0.996 0.004
Q23.8 Other congenital malformations of aortic and mitral valves
0.000 0.996 0.004
Q23.4 Hypoplastic left heart syndrome
0.000 0.996 0.004
Q23.2 Congenital mitral stenosis
0.000 0.996 0.004
Q03 Congenital hydrocephalus
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
N08.3 Glomerular disorders in diabetes mellitus
0.000 0.996 0.004
Q26.4 Anomalous pulmonary venous connexion, unspecified
0.000 0.996 0.004
C21 Malignant neoplasm of anus and anal canal
0.004 0.996 0.000
Q27.4 Congenital phlebectasia
0.000 0.996 0.004
Q27.2 Other congenital malformations of renal artery
0.000 0.996 0.004
Q27.0 Congenital absence and hypoplasia of umbilical artery
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
Q16 Congenital malformations of ear causing impairment of hearing
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
F81.9 Developmental disorder of scholastic skills, unspecified
0.000 0.996 0.004
Q10.7 Congenital malformation of orbit
0.000 0.996 0.004
Q10.6 Other congenital malformations of lachrymal apparatus
0.000 0.996 0.004
Q10.5 Congenital stenosis and stricture of lachrymal duct
0.000 0.996 0.004
Q10.4 Absence and agenesis of lachrymal apparatus
0.000 0.996 0.004
Q10.3 Other congenital malformations of eyelid
0.000 0.996 0.004
Q10.2 Congenital entropion
0.000 0.996 0.004
Q10.1 Congenital ectropion
0.000 0.996 0.004
Q11 Anophthalmos, microphthalmos and macrophthalmos
0.000 0.996 0.004
Q27.1 Congenital renal artery stenosis
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
Q05.4 Unspecified spina bifida with hydrocephalus
0.000 0.996 0.004
Q39.9 Congenital malformation of oesophagus, unspecified
0.000 0.996 0.004
Q39.8 Other congenital malformations of oesophagus
0.000 0.996 0.004
Q39.5 Congenital dilatation of oesophagus
0.000 0.996 0.004
Q39.3 Congenital stenosis and stricture of oesophagus
0.000 0.996 0.004
Q39.2 Congenital tracheooesophageal fistula without atresia
0.000 0.996 0.004
Q39.1 Atresia of oesophagus with tracheooesophageal fistula
0.000 0.996 0.004
Q39.0 Atresia of oesophagus without fistula
0.000 0.996 0.004
Q31.0 Web of larynx
0.000 0.996 0.004
Q15.0 Congenital glaucoma
0.000 0.996 0.004
Q40.2 Other specified congenital malformations of stomach
0.000 0.996 0.004
Q07 Other congenital malformations of nervous system
0.000 0.996 0.004
Q23.3 Congenital mitral insufficiency
0.000 0.996 0.004
I61 Intracerebral haemorrhage
0.000 0.996 0.004
Q22.5 Ebstein's anomaly
0.000 0.996 0.004
Q24.9 Congenital malformation of the heart, unspecified
0.000 0.996 0.004
Q21.9 Congenital malformation of cardiac septum, unspecified
0.000 0.996 0.004
Q12 Congenital lens malformations
0.000 0.996 0.004
K90.0 Coeliac disease
0.000 0.996 0.004
Q50-Q56 Congenital malformations of genital organs
0.000 0.996 0.004
Q05.7 Lumbar spina bifida without hydrocephalus
0.000 0.996 0.004
M31 Other necrotising vasculopathies
0.000 0.996 0.004
Q27.9 Congenital malformation of peripheral vascular system, unspecified
0.000 0.996 0.004
Q40.8 Other specified congenital malformations of upper alimentary tract
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
Q31.2 Laryngeal hypoplasia
0.000 0.996 0.004
Q31.1 Congenital subglottic stenosis
0.000 0.996 0.004
I61.5 Intracerebral haemorrhage, intraventricular
0.000 0.996 0.004
Q05.8 Sacral spina bifida without hydrocephalus
0.000 0.996 0.004
Q05.6 Thoracic spina bifida without hydrocephalus
0.000 0.996 0.004
Q05.5 Cervical spina bifida without hydrocephalus
0.000 0.996 0.004
Q05.3 Sacral spina bifida with hydrocephalus
0.000 0.996 0.004
Q05.2 Lumbar spina bifida with hydrocephalus
0.000 0.996 0.004
Q05.1 Thoracic spina bifida with hydrocephalus
0.000 0.996 0.004
Q05.0 Cervical spina bifida with hydrocephalus
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
Q05.9 Spina bifida, unspecified
0.000 0.996 0.004
Q45.3 Other congenital malformations of pancreas and pancreatic duct
0.000 0.996 0.004
Q18 Other congenital malformations of face and neck
0.000 0.996 0.004
M31.3 Wegener's granulomatosis
0.000 0.996 0.004
M31.1 Thrombotic microangiopathy
0.000 0.996 0.004
Q40.9 Congenital malformation of upper alimentary tract, unspecified
0.000 0.996 0.004
Q40.0 Congenital hypertrophic pyloric stenosis
0.000 0.996 0.004
Q15.9 Congenital malformation of eye, unspecified
0.000 0.996 0.004
Q15.8 Other specified congenital malformations of eye
0.000 0.996 0.004
Q31.3 Laryngocele
0.000 0.996 0.003
Q32.4 Other congenital malformations of bronchus
0.000 0.996 0.003
Q32.3 Congenital stenosis of bronchus
0.000 0.996 0.003
Q32.2 Congenital bronchomalacia
0.000 0.996 0.003
Q32.1 Other congenital malformations of trachea
0.000 0.996 0.003
Q32.0 Congenital tracheomalacia
0.000 0.996 0.003
Q33.9 Congenital malformation of lung, unspecified
0.000 0.996 0.003
Q33.8 Other congenital malformations of lung
0.000 0.996 0.003
Q33.6 Hypoplasia and dysplasia of lung
0.000 0.996 0.003
Q33.5 Ectopic tissue in lung
0.000 0.996 0.003
Q33.4 Congenital bronchiectasis
0.000 0.996 0.003
Q33.3 Agenesis of lung
0.000 0.996 0.003
Q33.2 Sequestration of lung
0.000 0.996 0.003
Q33.1 Accessory lobe of lung
0.000 0.996 0.003
Q33.0 Congenital cystic lung
0.000 0.996 0.003
Q34.9 Congenital malformation of respiratory system, unspecified
0.000 0.996 0.003
Q34.8 Other specified congenital malformations of respiratory system
0.000 0.996 0.003
Q34.1 Congenital cyst of mediastinum
0.000 0.996 0.003
Q34.0 Anomaly of pleura
0.000 0.996 0.003
Q37.9 Unspecified cleft palate with unilateral cleft lip
0.000 0.996 0.004
Q37.8 Unspecified cleft palate with bilateral cleft lip
0.000 0.996 0.003
Q37.5 Cleft hard and soft palate with unilateral cleft lip
0.000 0.996 0.003
Q37.4 Cleft hard and soft palate with bilateral cleft lip
0.000 0.996 0.003
Q37.3 Cleft soft palate with unilateral cleft lip
0.000 0.996 0.003
Q37.2 Cleft soft palate with bilateral cleft lip
0.000 0.996 0.003
Q37.1 Cleft hard palate with unilateral cleft lip
0.000 0.996 0.003
Q37.0 Cleft hard palate with bilateral cleft lip
0.000 0.996 0.003
Q21.8 Other congenital malformations of cardiac septa
0.000 0.996 0.004
Q21.4 Aortopulmonary septal defect
0.000 0.996 0.004
Q21.2 Atrioventricular septal defect
0.000 0.996 0.004
Q21.0 Ventricular septal defect
0.000 0.996 0.004
Q36.9 Cleft lip, unilateral
0.000 0.996 0.003
Q36.1 Cleft lip, medial
0.000 0.996 0.003
Q36.0 Cleft lip, bilateral
0.000 0.996 0.003
Q23.1 Congenital insufficiency of aortic valve
0.000 0.996 0.004
Q41.9 Congenital absence, atresia and stenosis of small intestine, part unspecified
0.000 0.996 0.003
Q41.8 Congenital absence, atresia and stenosis of other specified parts of small intestine
0.000 0.996 0.003
Q41.2 Congenital absence, atresia and stenosis of ileum
0.000 0.996 0.003
Q41.1 Congenital absence, atresia and stenosis of jejunum
0.000 0.996 0.003
Q41.0 Congenital absence, atresia and stenosis of duodenum
0.000 0.996 0.003
Q42.9 Congenital absence, atresia and stenosis of large intestine, part unspecified
0.000 0.996 0.003
Q42.8 Congenital absence, atresia and stenosis of other parts of large intestine
0.000 0.996 0.003
Q42.3 Congenital absence, atresia and stenosis of anus without fistula
0.000 0.996 0.003
Q42.2 Congenital absence, atresia and stenosis of anus with fistula
0.000 0.996 0.003
Q42.1 Congenital absence, atresia and stenosis of rectum without fistula
0.000 0.996 0.003
Q42.0 Congenital absence, atresia and stenosis of rectum with fistula
0.000 0.996 0.003
Q45.2 Congenital pancreatic cyst
0.000 0.996 0.003
Q45.1 Annular pancreas
0.000 0.996 0.003
Q45.0 Agenesis, aplasia and hypoplasia of pancreas
0.000 0.996 0.003
Q45.9 Congenital malformation of digestive system, unspecified
0.000 0.996 0.003
C21.8 Overlapping lesion of rectum, anus and anal canal
0.004 0.996 0.000
Q06.8 Other specified congenital malformations of spinal cord
0.000 0.996 0.003
Q30.8 Other congenital malformations of nose
0.000 0.996 0.003
Q30.2 Fissured, notched and cleft nose
0.000 0.996 0.003
Q30.1 Agenesis and underdevelopment of nose
0.000 0.996 0.003
Q30.0 Choanal atresia
0.000 0.996 0.003
Q35.8 (Cleft palate, unspecified, bilateral)
0.000 0.996 0.003
Q35.7 Cleft uvula
0.000 0.996 0.003
Q35.6 Cleft palate, medial
0.000 0.996 0.003
Q35.5 Cleft hard palate with cleft soft palate
0.000 0.996 0.003
Q35.4 (Cleft hard palate with cleft soft palate, bilateral)
0.000 0.996 0.003
Q35.3 Cleft soft palate
0.000 0.996 0.003
Q35.2 (Cleft soft palate, bilateral)
0.000 0.996 0.003
Q35.1 Cleft hard palate
0.000 0.996 0.003
Q35.0 (Cleft hard palate, bilateral)
0.000 0.996 0.003
Q04.6 Congenital cerebral cysts
0.000 0.996 0.003
Q06.9 Congenital malformation of spinal cord, unspecified
0.000 0.996 0.003
Q06.4 Hydromyelia
0.000 0.996 0.003
Q06.3 Other congenital cauda equina malformations
0.000 0.996 0.003
Q06.2 Diastematomyelia
0.000 0.996 0.003
Q06.1 Hypoplasia and dysplasia of spinal cord
0.000 0.996 0.003
Q06.0 Amyelia
0.000 0.996 0.003
Q40.3 Congenital malformation of stomach, unspecified
0.000 0.996 0.003
Q39.6 Diverticulum of oesophagus
0.000 0.996 0.003
I61.1 Intracerebral haemorrhage in hemisphere, cortical
0.000 0.996 0.004
Q00.2 Iniencephaly
0.000 0.996 0.003
Q00.1 Craniorachischisis
0.000 0.996 0.003
Q00.0 Anencephaly
0.000 0.996 0.003
Q01.9 Encephalocele, unspecified
0.000 0.996 0.003
Q01.8 Encephalocele of other sites
0.000 0.996 0.003
Q01.2 Occipital encephalocele
0.000 0.996 0.003
Q01.1 Nasofrontal encephalocele
0.000 0.996 0.003
Q01.0 Frontal encephalocele
0.000 0.996 0.003
Q40.1 Congenital hiatus hernia
0.000 0.996 0.003
Q30.3 Congenital perforated nasal septum
0.000 0.996 0.003
E23.0 Hypopituitarism
0.000 0.996 0.004
Q27.8 Other specified congenital malformations of peripheral vascular system
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
Q50 Congenital malformations of ovaries, Fallopian tubes and broad ligaments
0.000 0.996 0.003
Q04.9 Congenital malformation of brain, unspecified
0.000 0.996 0.003
Q04.5 Megalencephaly
0.000 0.996 0.003
Q04.4 Septo-optic dysplasia
0.000 0.996 0.003
Q04.3 Other reduction deformities of brain
0.000 0.996 0.003
Q04.2 Holoprosencephaly
0.000 0.996 0.003
Q04.1 Arhinencephaly
0.000 0.996 0.003
Q04.0 Congenital malformations of corpus callosum
0.000 0.996 0.003
Q45.8 Other specified congenital malformations of digestive system
0.000 0.996 0.003
Q22.1 Congenital pulmonary valve stenosis
0.000 0.996 0.003
Q30.9 Congenital malformation of nose, unspecified
0.000 0.996 0.003
Q17.9 Congenital malformation of ear, unspecified
0.000 0.996 0.003
Q17.8 Other specified congenital malformations of ear
0.000 0.996 0.003
Q17.4 Misplaced ear
0.000 0.996 0.003
Q17.3 Other misshapen ear
0.000 0.996 0.003
Q17.2 Microtia
0.000 0.996 0.003
Q17.1 Macrotia
0.000 0.996 0.003
Q17.0 Accessory auricle
0.000 0.996 0.003
Q35.9 Cleft palate, unspecified
0.000 0.996 0.003
Q14.9 Congenital malformation of posterior segment of eye, unspecified
0.000 0.997 0.003
Q14.8 Other congenital malformations of posterior segment of eye
0.000 0.997 0.003
Q14.3 Congenital malformation of choroid
0.000 0.997 0.003
Q14.2 Congenital malformation of optic disk
0.000 0.997 0.003
Q14.0 Congenital malformation of vitreous humour
0.000 0.997 0.003
I61.2 Intracerebral haemorrhage in hemisphere, unspecified
0.000 0.997 0.003
Q03.9 Congenital hydrocephalus, unspecified
0.000 0.997 0.003
Q03.8 Other congenital hydrocephalus
0.000 0.997 0.003
Q03.1 Atresia of foramina of Magendie and Luschka
0.000 0.997 0.003
Q17.5 Prominent ear
0.000 0.997 0.003
Q98.4 Klinefelter's syndrome, unspecified
0.000 0.997 0.003
C21.2 Cloacogenic zone
0.003 0.997 0.000
Q14.1 Congenital malformation of retina
0.000 0.997 0.003
Q04.8 Other specified congenital malformations of brain
0.000 0.997 0.003
Q16.5 Congenital malformation of inner ear
0.000 0.997 0.003
Q16.4 Other congenital malformations of middle ear
0.000 0.997 0.003
Q16.3 Congenital malformation of ear ossicles
0.000 0.997 0.003
Q16.2 Absence of eustachian tube
0.000 0.997 0.003
Q16.1 Congenital absence, atresia and stricture of auditory canal (external)
0.000 0.997 0.003
Q16.0 Congenital absence of (ear) auricle
0.000 0.997 0.003
Q11.3 Macrophthalmos
0.000 0.997 0.003
Q11.2 Microphthalmos
0.000 0.997 0.003
Q11.0 Cystic eyeball
0.000 0.997 0.003
Q50.4 Embryonic cyst of Fallopian tube
0.000 0.997 0.003
N88 Other noninflammatory disorders of cervix uteri
0.000 0.997 0.003
Q03.0 Malformations of aqueduct of Sylvius
0.000 0.997 0.003
Q21.3 Tetralogy of Fallot
0.000 0.997 0.003
Q07.9 Congenital malformation of nervous system, unspecified
0.000 0.997 0.003
Q12.9 Congenital lens malformation, unspecified
0.000 0.997 0.003
Q12.8 Other congenital lens malformations
0.000 0.997 0.003
Q12.4 Spherophakia
0.000 0.997 0.003
Q12.3 Congenital aphakia
0.000 0.997 0.003
Q12.2 Coloboma of lens
0.000 0.997 0.003
Q12.1 Congenital displaced lens
0.000 0.997 0.003
Q56 Indeterminate sex and pseudohermaphroditism
0.000 0.997 0.003
M47.80 Other spondylosis (Multiple sites in spine)
0.000 0.997 0.003
I61.0 Intracerebral haemorrhage in hemisphere, subcortical
0.000 0.997 0.003
M31.9 Necrotising vasculopathy, unspecified
0.000 0.997 0.003
M31.2 Lethal midline granuloma
0.000 0.997 0.003
I61.8 Other intracerebral haemorrhage
0.000 0.997 0.003
H90.0 Conductive hearing loss, bilateral
0.003 0.997 0.000
M31.0 Hypersensitivity angiitis
0.000 0.997 0.003
Q65-Q79 Congenital malformations and deformations of the musculoskeletal system
0.000 0.997 0.003
I61.6 Intracerebral haemorrhage, multiple localised
0.000 0.997 0.003
Q18.9 Congenital malformation of face and neck, unspecified
0.000 0.997 0.003
Q18.8 Other specified congenital malformations of face and neck
0.000 0.997 0.003
Q18.7 Microcheilia
0.000 0.997 0.003
Q18.6 Macrocheilia
0.000 0.997 0.003
Q18.5 Microstomia
0.000 0.997 0.003
Q18.4 Macrostomia
0.000 0.997 0.003
Q18.3 Webbing of neck
0.000 0.997 0.003
Q18.2 Other branchial cleft malformations
0.000 0.997 0.003
M94.86 Other specified disorders of cartilage (Lower leg)
0.003 0.997 0.000
Q16.9 Congenital malformation of ear causing impairment of hearing, unspecified
0.000 0.997 0.003
M31.8 Other specified necrotising vasculopathies
0.000 0.997 0.003
I31.3 Pericardial effusion (noninflammatory)
0.000 0.997 0.003
Z89.4 Acquired absence of foot and ankle
0.000 0.997 0.003
M41.99 Scoliosis, unspecified (Site unspecified)
0.000 0.997 0.003
M31.4 Aortic arch syndrome [Takayasu]
0.000 0.997 0.003
Q07.0 Arnold-Chiari syndrome
0.000 0.997 0.003
Q11.1 Other anophthalmos
0.000 0.997 0.003
Q18.1 Preauricular sinus and cyst
0.000 0.997 0.003
N36.0 Urethral fistula
0.003 0.997 0.000
Q07.8 Other specified congenital malformations of nervous system
0.000 0.997 0.003
M65.43 Radial styloid tenosynovitis [de Quervain] (Forearm)
0.000 0.997 0.003
Q38 Other congenital malformations of tongue, mouth and pharynx
0.000 0.997 0.003
I61.3 Intracerebral haemorrhage in brain stem
0.000 0.997 0.003
Q50.6 Other congenital malformatons of Fallopian tube and broad ligament
0.000 0.997 0.003
Q50.3 Other congenital malformations of ovary
0.000 0.997 0.003

This table lists the top 500 terms ordered by p(effect).

The full results table can be downloaded from this page.