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Variant-specific associations

rs2645294
log Bayes Factor = 0.0530546
Chromosome 1   position 119,574,587  (GRCh37) Explore rs2645294 on Ensembl!
Variant rs2645294 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
 
R29.8 Other and unspecified symptoms and signs involving the nervous and musculoskeletal systems
0.275 0.725 0.000
R29 Other symptoms and signs involving the nervous and musculoskeletal systems
0.046 0.954 0.000
R29.2 Abnormal reflex
0.035 0.965 0.000
R29.4 Clicking hip
0.033 0.967 0.000
R29.3 Abnormal posture
0.033 0.967 0.000
R29.0 Tetany
0.032 0.968 0.000
E53.8 Deficiency of other specified B group vitamins
0.030 0.970 0.000
R29.1 Meningismus
0.030 0.970 0.000
C15.5 Lower third of oesophagus
0.000 0.974 0.026
C15.9 Oesophagus, unspecified
0.000 0.976 0.024
C15 Malignant neoplasm of oesophagus
0.000 0.977 0.023
S62.00 Fracture of navicular [scaphoid] bone of hand (closed)
0.000 0.977 0.023
C15.0 Cervical part of oesophagus
0.000 0.981 0.019
S62.0 Fracture of navicular [scaphoid] bone of hand
0.000 0.981 0.019
S66 Injury of muscle and tendon at wrist and hand level
0.000 0.982 0.018
S60-S69 Injuries to the wrist and hand
0.000 0.982 0.018
S66.8 Injury of other muscles and tendons at wrist and hand level
0.000 0.982 0.018
S64 Injury of nerves at wrist and hand level
0.000 0.982 0.018
C15.1 Thoracic part of oesophagus
0.000 0.982 0.017
S64.2 Injury of radial nerve at wrist and hand level
0.000 0.983 0.017
F10.1 Harmful use
0.017 0.983 0.000
C15.3 Upper third of oesophagus
0.000 0.983 0.017
S64.1 Injury of median nerve at wrist and hand level
0.000 0.983 0.017
C15.8 Overlapping lesion of oesophagus
0.000 0.983 0.017
C15.2 Abdominal part of oesophagus
0.000 0.983 0.017
S66.6 Injury of multiple flexor muscles and tendons at wrist and hand level
0.000 0.983 0.017
S67 Crushing injury of wrist and hand
0.000 0.983 0.017
S63 Dislocation, sprain and strain of joints and ligaments at wrist and hand level
0.000 0.983 0.017
S62 Fracture at wrist and hand level
0.000 0.984 0.016
S67.0 Crushing injury of thumb and other finger(s)
0.000 0.984 0.016
S62.6 Fracture of other finger
0.000 0.985 0.015
S66.2 Injury of extensor muscle and tendon of thumb at wrist and hand level
0.000 0.985 0.015
S66.7 Injury of multiple extensor muscles and tendons at wrist and hand level
0.000 0.985 0.015
S66.9 Injury of unspecified muscle and tendon at wrist and hand level
0.000 0.985 0.015
C15.4 Middle third of oesophagus
0.000 0.985 0.015
S66.3 Injury of extensor muscle and tendon of other finger at wrist and hand level
0.000 0.986 0.014
S62.60 Fracture of other finger (closed)
0.000 0.986 0.014
S63.0 Dislocation of wrist
0.000 0.986 0.014
S62.01 Fracture of navicular [scaphoid] bone of hand (open)
0.000 0.986 0.014
S63.6 Sprain and strain of finger(s)
0.000 0.986 0.014
S60 Superficial injury of wrist and hand
0.000 0.986 0.014
S64.0 Injury of ulnar nerve at wrist and hand level
0.000 0.986 0.014
S63.5 Sprain and strain of wrist
0.000 0.986 0.014
S65 Injury of blood vessels at wrist and hand level
0.000 0.987 0.013
S66.5 Injury of intrinsic muscle and tendon of other finger at wrist and hand level
0.000 0.987 0.013
S66.4 Injury of intrinsic muscle and tendon of thumb at wrist and hand level
0.000 0.987 0.013
S63.4 Traumatic rupture of ligament of finger at metacarpophalangeal and interphalangeal joint(s)
0.000 0.987 0.013
S62.61 Fracture of other finger (open)
0.000 0.987 0.013
S64.9 Injury of unspecified nerve at wrist and hand level
0.000 0.987 0.013
S64.8 Injury of other nerves at wrist and hand level
0.000 0.987 0.013
S63.7 Sprain and strain of other and unspecified parts of hand
0.000 0.987 0.012
S64.7 Injury of multiple nerves at wrist and hand level
0.000 0.988 0.012
S67.8 Crushing injury of other and unspecified parts of wrist and hand
0.000 0.988 0.012
S63.1 Dislocation finger
0.000 0.988 0.012
S65.1 Injury of radial artery at wrist and hand level
0.000 0.988 0.012
S63.2 Multiple dislocations of fingers
0.000 0.988 0.012
Q27 Other congenital malformations of peripheral vascular system
0.012 0.988 0.000
Q20-Q28 Congenital malformations of the circulatory system
0.012 0.988 0.000
S60.0 Contusion of finger(s) without damage to nail
0.000 0.988 0.012
S60.8 Other superficial injuries of wrist and hand
0.000 0.988 0.012
S62.3 Fracture of other metacarpal bone
0.000 0.988 0.011
S69 Other and unspecified injuries of wrist and hand
0.000 0.988 0.011
S62.1 Fracture of other carpal bone(s)
0.000 0.989 0.011
S63.3 Traumatic rupture of ligament of wrist and carpus
0.000 0.989 0.011
S60.2 Contusion of other parts of wrist and hand
0.000 0.989 0.011
Q28 Other congenital malformations of circulatory system
0.011 0.989 0.000
Q27.3 Peripheral arteriovenous malformation
0.011 0.989 0.000
Q27.9 Congenital malformation of peripheral vascular system, unspecified
0.011 0.989 0.000
E53 Deficiency of other B group vitamins
0.011 0.989 0.000
S64.3 Injury of digital nerve of thumb
0.000 0.989 0.011
Q24 Other congenital malformations of heart
0.011 0.989 0.000
Q23 Congenital malformations of aortic and mitral valves
0.010 0.989 0.000
Z90.7 Acquired absence of genital organ(s)
0.010 0.990 0.000
S68 Traumatic amputation of wrist and hand
0.000 0.990 0.010
S62.7 Multiple fractures of fingers
0.000 0.990 0.010
S65.9 Injury of unspecified blood vessel at wrist and hand level
0.000 0.990 0.010
S65.8 Injury of other blood vessels at wrist and hand level
0.000 0.990 0.010
S65.7 Injury of multiple blood vessels at wrist and hand level
0.000 0.990 0.010
S65.3 Injury of deep palmar arch
0.000 0.990 0.010
S65.2 Injury of superficial palmar arch
0.000 0.990 0.010
Q28.2 Arteriovenous malformation of cerebral vessels
0.010 0.990 0.000
S66.0 Injury of long flexor muscle and tendon of thumb at wrist and hand level
0.000 0.990 0.010
Q22 Congenital malformations of pulmonary and tricuspid valves
0.010 0.990 0.000
Q24.6 Congenital heart block
0.009 0.990 0.000
S62.4 Multiple fractures of metacarpal bones
0.000 0.990 0.009
Q28.0 Arteriovenous malformation of precerebral vessels
0.009 0.991 0.000
S65.5 Injury of blood vessel(s) of other finger
0.000 0.991 0.009
Q23.0 Congenital stenosis of aortic valve
0.009 0.991 0.000
Q27.8 Other specified congenital malformations of peripheral vascular system
0.009 0.991 0.000
S60.1 Contusion of finger(s) with damage to nail
0.000 0.991 0.009
Q24.8 Other specified congenital malformations of heart
0.009 0.991 0.000
Q26 Congenital malformations of great veins
0.009 0.991 0.000
S69.9 Unspecified injury of wrist and hand
0.000 0.991 0.009
S65.4 Injury of blood vessel(s) of thumb
0.000 0.991 0.009
Q23.3 Congenital mitral insufficiency
0.009 0.991 0.000
S63.11 Subluxation and dislocation of metacarpophalangeal joint of thumb
0.000 0.991 0.009
K80.4 Calculus of bile duct with cholecystitis
0.000 0.991 0.009
Q27.4 Congenital phlebectasia
0.009 0.991 0.000
Q27.2 Other congenital malformations of renal artery
0.009 0.991 0.000
Q27.1 Congenital renal artery stenosis
0.009 0.991 0.000
Q27.0 Congenital absence and hypoplasia of umbilical artery
0.009 0.991 0.000
S62.2 Fracture of first metacarpal bone
0.000 0.991 0.008
C45.9 Mesothelioma, unspecified
0.009 0.991 0.000
Q20 Congenital malformations of cardiac chambers and connexions
0.009 0.991 0.000
Q24.0 Dextrocardia
0.009 0.991 0.000
S62.31 Fracture of other metacarpal bone (open)
0.000 0.991 0.009
S60.7 Multiple superficial injuries of wrist and hand
0.000 0.991 0.008
Q28.3 Other malformations of cerebral vessels
0.008 0.991 0.000
Q65-Q79 Congenital malformations and deformations of the musculoskeletal system
0.009 0.991 0.000
C45.0 Mesothelioma of pleura
0.008 0.992 0.000
S62.11 Fracture of other carpal bone(s) (open)
0.000 0.992 0.008
S62.8 Fracture of other and unspecified parts of wrist and hand
0.000 0.992 0.008
S65.0 Injury of ulnar artery at wrist and hand level
0.000 0.992 0.008
Q78 Other osteochondrodysplasias
0.008 0.992 0.000
Q28.9 Congenital malformation of circulatory system, unspecified
0.008 0.992 0.000
Q28.8 Other specified congenital malformations of circulatory system
0.008 0.992 0.000
Q28.1 Other malformations of precerebral vessels
0.008 0.992 0.000
Q24.4 Congenital subaortic stenosis
0.008 0.992 0.000
Chapter XVII Congenital malformations, deformations and chromosomal abnormalities
0.008 0.992 0.000
E53.1 Pyridoxine deficiency
0.008 0.992 0.000
E53.0 Riboflavin deficiency
0.008 0.992 0.000
C45 Mesothelioma
0.008 0.992 0.000
Q24.3 Pulmonary infundibular stenosis
0.008 0.992 0.000
Q24.2 Cor triatriatum
0.008 0.992 0.000
Q24.1 Levocardia
0.008 0.992 0.000
Q24.5 Malformation of coronary vessels
0.008 0.992 0.000
Q78.0 Osteogenesis imperfecta
0.008 0.992 0.000
S62.30 Fracture of other metacarpal bone (closed)
0.000 0.992 0.008
Q79 Congenital malformations of musculoskeletal system, not elsewhere classified
0.008 0.992 0.000
Q23.9 Congenital malformation of aortic and mitral valves, unspecified
0.008 0.992 0.000
Q23.8 Other congenital malformations of aortic and mitral valves
0.008 0.992 0.000
Q23.4 Hypoplastic left heart syndrome
0.008 0.992 0.000
Q23.2 Congenital mitral stenosis
0.008 0.992 0.000
S68.1 Traumatic amputation of other single finger (complete)(partial)
0.000 0.992 0.008
S62.10 Fracture of other carpal bone(s) (closed)
0.000 0.992 0.008
Q22.5 Ebstein's anomaly
0.008 0.992 0.000
S69.7 Multiple injuries of wrist and hand
0.000 0.992 0.008
Q22.1 Congenital pulmonary valve stenosis
0.008 0.992 0.000
Q67 Congenital musculoskeletal deformities of head, face, spine and chest
0.008 0.992 0.000
Q79.6 Ehlers-Danlos syndrome
0.008 0.992 0.000
S68.9 Traumatic amputation of wrist and hand, level unspecified
0.000 0.992 0.007
S68.8 Traumatic amputation of other parts of wrist and hand
0.000 0.992 0.007
S68.4 Traumatic amputation of hand at wrist level
0.000 0.992 0.007
S68.3 Combined traumatic amputation of (part of) finger(s) with other parts of wrist and hand
0.000 0.992 0.007
Q26.4 Anomalous pulmonary venous connexion, unspecified
0.007 0.993 0.000
Q22.9 Congenital malformation of tricuspid valve, unspecified
0.007 0.993 0.000
Q22.8 Other congenital malformations of tricuspid valve
0.007 0.993 0.000
Q22.6 Hypoplastic right heart syndrome
0.007 0.993 0.000
Q22.4 Congenital tricuspid stenosis
0.007 0.993 0.000
Q22.3 Other congenital malformations of pulmonary valve
0.007 0.993 0.000
Q22.2 Congenital pulmonary valve insufficiency
0.007 0.993 0.000
Q22.0 Pulmonary valve atresia
0.007 0.993 0.000
S62.41 Multiple fractures of metacarpal bones (open)
0.000 0.993 0.007
Q80-Q89 Other congenital malformations
0.007 0.993 0.000
S62.71 Multiple fractures of fingers (open)
0.000 0.993 0.007
S69.8 Other specified injuries of wrist and hand
0.000 0.993 0.007
C45.7 Mesothelioma of other sites
0.007 0.993 0.000
Q26.9 Congenital malformation of great vein, unspecified
0.007 0.993 0.000
Q26.8 Other congenital malformations of great veins
0.007 0.993 0.000
Q26.6 Portal vein-hepatic artery fistula
0.007 0.993 0.000
Q26.5 Anomalous portal venous connexion
0.007 0.993 0.000
Q26.3 Partial anomalous pulmonary venous connexion
0.007 0.993 0.000
Q26.2 Total anomalous pulmonary venous connexion
0.007 0.993 0.000
Q26.1 Persistent left superior vena cava
0.007 0.993 0.000
Q26.0 Congenital stenosis of vena cava
0.007 0.993 0.000
Q70 Syndactyly
0.007 0.993 0.000
Q78.2 Osteopetrosis
0.007 0.993 0.000
Q67.6 Pectus excavatum
0.007 0.993 0.000
Q85.9 Phakomatosis, unspecified
0.007 0.993 0.000
S62.5 Fracture of thumb
0.000 0.993 0.007
Q25 Congenital malformations of great arteries
0.006 0.993 0.000
Q35-Q37 Cleft lip and cleft palate
0.007 0.993 0.000
S62.21 Fracture of first metacarpal bone (open)
0.000 0.993 0.006
Q20.9 Congenital malformation of cardiac chambers and connexions, unspecified
0.006 0.993 0.000
Q20.8 Other congenital malformations of cardiac chambers and connexions
0.006 0.993 0.000
Q20.6 Isomerism of atrial appendages
0.006 0.993 0.000
Q20.5 Discordant atrioventricular connexion
0.006 0.993 0.000
Q20.4 Double inlet ventricle
0.006 0.993 0.000
Q20.3 Discordant ventriculoarterial connexion
0.006 0.993 0.000
Q20.2 Double outlet left ventricle
0.006 0.993 0.000
Q20.1 Double outlet right ventricle
0.006 0.993 0.000
Q20.0 Common arterial trunk
0.006 0.993 0.000
Q23.1 Congenital insufficiency of aortic valve
0.006 0.993 0.000
Q85 Phakomatoses, not elsewhere classified
0.006 0.993 0.000
Q24.9 Congenital malformation of the heart, unspecified
0.006 0.994 0.000
Q75 Other congenital malformations of skull and face bones
0.006 0.994 0.000
Q73 Reduction defects of unspecified limb
0.006 0.994 0.000
Q72 Reduction defects of lower limb
0.006 0.994 0.000
Q71 Reduction defects of upper limb
0.006 0.994 0.000
Q69 Polydactyly
0.006 0.994 0.000
J15.1 Pneumonia due to Pseudomonas
0.006 0.994 0.000
Q79.1 Other congenital malformations of diaphragm
0.006 0.994 0.000
Q90-Q99 Chromosomal abnormalities, not elsewhere classified
0.006 0.994 0.000
S62.81 Fracture of other and unspecified parts of wrist and hand (open)
0.001 0.994 0.006
S68.0 Traumatic amputation of thumb (complete)(partial)
0.000 0.994 0.006
Q78.9 Osteochondrodysplasia, unspecified
0.006 0.994 0.000
Q78.8 Other specified osteochondrodysplasias
0.006 0.994 0.000
Q78.6 Multiple congenital exostoses
0.006 0.994 0.000
Q78.5 Metaphyseal dysplasia
0.006 0.994 0.000
Q78.4 Enchondromatosis
0.006 0.994 0.000
Q78.3 Progressive diaphyseal dysplasia
0.006 0.994 0.000
Q78.1 Polyostotic fibrous dysplasia
0.006 0.994 0.000
S62.70 Multiple fractures of fingers (closed)
0.000 0.994 0.006
Q66 Congenital deformities of feet
0.006 0.994 0.000
Q68 Other congenital musculoskeletal deformities
0.006 0.994 0.000
Q67.5 Congenital deformity of spine
0.006 0.994 0.000
Q67.4 Other congenital deformities of skull, face and jaw
0.006 0.994 0.000
C45.2 Mesothelioma of pericardium
0.006 0.994 0.000
C45.1 Mesothelioma of peritoneum
0.006 0.994 0.000
Q83 Congenital malformations of breast
0.006 0.994 0.000
M06.00 Seronegative rheumatoid arthritis (Multiple sites)
0.000 0.994 0.006
Q74 Other congenital malformations of limb(s)
0.006 0.994 0.000
Q79.9 Congenital malformation of musculoskeletal system, unspecified
0.006 0.994 0.000
Q79.5 Other congenital malformations of abdominal wall
0.006 0.994 0.000
Q79.4 Prune belly syndrome
0.006 0.994 0.000
Q79.3 Gastroschisis
0.006 0.994 0.000
Q79.2 Exomphalos
0.006 0.994 0.000
Q77 Osteochondrodysplasia with defects of growth of tubular bones and spine
0.006 0.994 0.000
Q76 Congenital malformations of spine and bony thorax
0.006 0.994 0.000
Q50-Q56 Congenital malformations of genital organs
0.006 0.994 0.000
Q67.8 Other congenital deformities of chest
0.006 0.994 0.000
Q67.7 Pectus carinatum
0.006 0.994 0.000
Q67.3 Plagiocephaly
0.006 0.994 0.000
Q67.2 Dolichocephaly
0.006 0.994 0.000
Q67.1 Compression facies
0.006 0.994 0.000
Q67.0 Facial asymmetry
0.006 0.994 0.000
Q30-Q34 Congenital malformations of the respiratory system
0.006 0.994 0.000
Q10-Q18 Congenital malformations of eye, ear, face and neck
0.006 0.994 0.000
Q00-Q07 Congenital malformations of the nervous system
0.006 0.994 0.000
Q79.8 Other congenital malformations of musculoskeletal system
0.006 0.994 0.000
Q70.3 Webbed toes
0.006 0.994 0.000
S68.2 Traumatic amputation of two or more fingers alone (complete)(partial)
0.000 0.994 0.005
Q79.0 Congenital diaphragmatic hernia
0.005 0.994 0.000
Q85.8 Other phakomatoses, not elsewhere classified
0.005 0.994 0.000
Q87 Other specified congenital malformation syndromes affecting multiple systems
0.005 0.995 0.000
E53.9 Vitamin B deficiency, unspecified
0.005 0.995 0.000
Q60-Q64 Congenital malformations of the urinary system
0.005 0.995 0.000
E27.4 Other and unspecified adrenocortical insufficiency
0.005 0.995 0.000
Q37 Cleft palate with cleft lip
0.005 0.995 0.000
Q86 Congenital malformation syndromes due to known exogenous causes, not elsewhere classified
0.005 0.995 0.000
Q84 Other congenital malformations of integument
0.005 0.995 0.000
Q81 Epidermolysis bullosa
0.005 0.995 0.000
Q76.5 Cervical rib
0.005 0.995 0.000
Q65 Congenital deformities of hip
0.005 0.995 0.000
Q80 Congenital ichthyosis
0.005 0.995 0.000
Q82 Other congenital malformations of skin
0.005 0.995 0.000
Q66.7 Pes cavus
0.005 0.995 0.000
Q83.8 Other congenital malformations of breast
0.005 0.995 0.000
Q35 Cleft palate
0.005 0.995 0.000
Q70.9 Syndactyly, unspecified
0.005 0.995 0.000
Q70.4 Polysyndactyly
0.005 0.995 0.000
Q70.2 Fused toes
0.005 0.995 0.000
Q70.1 Webbed fingers
0.005 0.995 0.000
Q70.0 Fused fingers
0.005 0.995 0.000
Q52 Other congenital malformations of female genitalia
0.005 0.995 0.000
S60.9 Superficial injury of wrist and hand, unspecified
0.000 0.995 0.005
Q98 Other sex chromosome abnormalities, male phenotype, not elsewhere classified
0.005 0.995 0.000
Q66.6 Other congenital valgus deformities of feet
0.005 0.995 0.000
Q17 Other congenital malformations of ear
0.005 0.995 0.000
Q25.9 Congenital malformation of great arteries, unspecified
0.005 0.995 0.000
Q25.8 Other congenital malformations of great arteries
0.005 0.995 0.000
Q25.7 Other congenital malformations of pulmonary artery
0.005 0.995 0.000
Q25.5 Atresia of pulmonary artery
0.005 0.995 0.000
Q25.2 Atresia of aorta
0.005 0.995 0.000
Q36 Cleft lip
0.005 0.995 0.000
Q60 Renal agenesis and other reduction defects of kidney
0.005 0.995 0.000
Q25.4 Other congenital malformations of aorta
0.005 0.995 0.000
Q66.9 Congenital deformity of feet, unspecified
0.005 0.995 0.000
S64.4 Injury of digital nerve of other finger
0.000 0.995 0.005
Q07 Other congenital malformations of nervous system
0.005 0.995 0.000
Q25.0 Patent ductus arteriosus
0.005 0.995 0.000
Q53 Undescended testicle
0.005 0.995 0.000
Q25.6 Stenosis of pulmonary artery
0.005 0.995 0.000
Q69.9 Polydactyly, unspecified
0.005 0.995 0.000
Q69.2 Accessory toe(s)
0.005 0.995 0.000
Q69.1 Accessory thumb(s)
0.005 0.995 0.000
Q69.0 Accessory finger(s)
0.005 0.995 0.000
Q71.9 Reduction defect of upper limb, unspecified
0.005 0.995 0.000
Q71.8 Other reduction defects of upper limb(s)
0.005 0.995 0.000
Q71.6 Lobster-claw hand
0.005 0.995 0.000
Q71.5 Longitudinal reduction defect of ulna
0.005 0.995 0.000
Q71.4 Longitudinal reduction defect of radius
0.005 0.995 0.000
Q71.3 Congenital absence of hand and finger(s)
0.005 0.995 0.000
Q71.2 Congenital absence of both forearm and hand
0.005 0.995 0.000
Q71.1 Congenital absence of upper arm and forearm with hand present
0.005 0.995 0.000
Q71.0 Congenital complete absence of upper limb(s)
0.005 0.995 0.000
Q72.9 Reduction defect of lower limb, unspecified
0.005 0.995 0.000
Q72.8 Other reduction defects of lower limb(s)
0.005 0.995 0.000
Q72.7 Split foot
0.005 0.995 0.000
Q72.6 Longitudinal reduction defect of fibula
0.005 0.995 0.000
Q72.5 Longitudinal reduction defect of tibia
0.005 0.995 0.000
Q72.4 Longitudinal reduction defect of femur
0.005 0.995 0.000
Q72.3 Congenital absence of foot and toe(s)
0.005 0.995 0.000
Q72.2 Congenital absence of both lower leg and foot
0.005 0.995 0.000
Q72.1 Congenital absence of thigh and lower leg with foot present
0.005 0.995 0.000
Q72.0 Congenital complete absence of lower limb(s)
0.005 0.995 0.000
Q73.8 Other reduction defects of unspecified limb(s)
0.005 0.995 0.000
Q73.1 Phocomelia, unspecified limb(s)
0.005 0.995 0.000
Q73.0 Congenital absence of unspecified limb(s)
0.005 0.995 0.000
Q75.9 Congenital malformation of skull and face bones, unspecified
0.005 0.995 0.000
Q75.8 Other specified congenital malformations of skull and face bones
0.005 0.995 0.000
Q75.5 Oculomandibular dysostosis
0.005 0.995 0.000
Q75.4 Mandibulofacial dysostosis
0.005 0.995 0.000
Q75.3 Macrocephaly
0.005 0.995 0.000
Q75.2 Hypertelorism
0.005 0.995 0.000
Q75.1 Craniofacial dysostosis
0.005 0.995 0.000
Q75.0 Craniosynostosis
0.005 0.995 0.000
Q96 Turner's syndrome
0.005 0.995 0.000
Q25.3 Stenosis of aorta
0.005 0.995 0.000
Q83.1 Accessory breast
0.005 0.995 0.000
Q21 Congenital malformations of cardiac septa
0.005 0.995 0.000
Q97 Other sex chromosome abnormalities, female phenotype, not elsewhere classified
0.005 0.995 0.000
Q95 Balanced rearrangements and structural markers, not elsewhere classified
0.005 0.995 0.000
Q93 Monosomies and deletions from the autosomes, not elsewhere classified
0.005 0.995 0.000
Q92 Other trisomies and partial trisomies of the autosomes, not elsewhere classified
0.005 0.995 0.000
Q91 Edwards' syndrome and Patau's syndrome
0.005 0.995 0.000
Q66.5 Congenital pes planus
0.005 0.995 0.000
Q66.4 Talipes calcaneovalgus
0.005 0.995 0.000
Q66.1 Talipes calcaneovarus
0.005 0.995 0.000
Q82.5 Congenital nonneoplastic naevus
0.005 0.995 0.000
Q50 Congenital malformations of ovaries, Fallopian tubes and broad ligaments
0.005 0.995 0.000
S62.40 Multiple fractures of metacarpal bones (closed)
0.000 0.995 0.004
Q68.5 Congenital bowing of long bones of leg, unspecified
0.004 0.995 0.000
Q68.4 Congenital bowing of tibia and fibula
0.004 0.995 0.000
Q68.3 Congenital bowing of femur
0.004 0.995 0.000
Q68.2 Congenital deformity of knee
0.004 0.995 0.000
Q68.1 Congenital deformity of hand
0.004 0.995 0.000
Q68.0 Congenital deformity of sternocleidomastoid muscle
0.004 0.995 0.000
Q85.1 Tuberous sclerosis
0.004 0.995 0.000
Q87.1 Congenital malformation syndromes predominantly associated with short stature
0.005 0.995 0.000
Q52.5 Fusion of labia
0.005 0.995 0.000
Q66.0 Talipes equinovarus
0.004 0.995 0.000
Q06 Other congenital malformations of spinal cord
0.004 0.995 0.000
Q99 Other chromosome abnormalities, not elsewhere classified
0.004 0.995 0.000
E27.8 Other specified disorders of adrenal gland
0.005 0.995 0.000
Q83.9 Congenital malformation of breast, unspecified
0.004 0.995 0.000
Q83.2 Absent nipple
0.004 0.995 0.000
Q83.0 Congenital absence of breast with absent nipple
0.004 0.995 0.000
Q74.1 Congenital malformation of knee
0.004 0.995 0.000
Q90 Down's syndrome
0.004 0.995 0.000
Q17.5 Prominent ear
0.004 0.995 0.000
Q87.0 Congenital malformation syndromes predominantly affecting facial appearance
0.004 0.995 0.000
Q60.2 Renal agenesis, unspecified
0.004 0.995 0.000
E27 Other disorders of adrenal gland
0.005 0.995 0.000
Q74.9 Unspecified congenital malformation of limb(s)
0.004 0.995 0.000
Q74.8 Other specified congenital malformations of limb(s)
0.004 0.995 0.000
Q74.3 Arthrogryposis multiplex congenita
0.004 0.995 0.000
Q76.9 Congenital malformation of bony thorax, unspecified
0.004 0.995 0.000
Q76.8 Other congenital malformations of bony thorax
0.004 0.995 0.000
Q76.7 Congenital malformation of sternum
0.004 0.995 0.000
Q76.6 Other congenital malformations of ribs
0.004 0.995 0.000
Q76.3 Congenital scoliosis due to congenital bony malformation
0.004 0.995 0.000
Q76.2 Congenital spondylolisthesis
0.004 0.995 0.000
Q77.9 Osteochondrodysplasia with defects of growth of tubular bones and spine, unspecified
0.004 0.995 0.000
Q77.8 Other osteochondrodysplasia with defects of growth of tubular bones and spine
0.004 0.995 0.000
Q77.7 Spondyloepiphyseal dysplasia
0.004 0.995 0.000
Q77.6 Chondroectodermal dysplasia
0.004 0.995 0.000
Q77.5 Diastrophic dysplasia
0.004 0.995 0.000
Q77.3 Chondrodysplasia punctata
0.004 0.995 0.000
Q77.2 Short rib syndrome
0.004 0.995 0.000
Q77.1 Thanatophoric short stature
0.004 0.995 0.000
Q77.0 Achondrogenesis
0.004 0.995 0.000
Q37.9 Unspecified cleft palate with unilateral cleft lip
0.004 0.995 0.000
Q56 Indeterminate sex and pseudohermaphroditism
0.004 0.995 0.000
Q54 Hypospadias
0.004 0.995 0.000
Q68.8 Other specified congenital musculoskeletal deformities
0.004 0.995 0.000
Q30 Congenital malformations of nose
0.004 0.996 0.000
Q74.0 Other congenital malformations of upper limb(s), including shoulder girdle
0.004 0.996 0.000
Q83.3 Accessory nipple
0.004 0.996 0.000
Q66.2 Metatarsus varus
0.004 0.996 0.000
Q98.4 Klinefelter's syndrome, unspecified
0.004 0.996 0.000
Q16 Congenital malformations of ear causing impairment of hearing
0.004 0.996 0.000
Q13 Congenital malformations of anterior segment of eye
0.004 0.996 0.000
Q34 Other congenital malformations of respiratory system
0.004 0.996 0.000
Q33 Congenital malformations of lung
0.004 0.996 0.000
Q32 Congenital malformations of trachea and bronchus
0.004 0.996 0.000
Q01 Encephalocele
0.004 0.996 0.000
Q00 Anencephaly and similar malformations
0.004 0.996 0.000
Q02 Microcephaly
0.004 0.996 0.000
Q12 Congenital lens malformations
0.004 0.996 0.000
Q07.0 Arnold-Chiari syndrome
0.004 0.996 0.000
Q14 Congenital malformations of posterior segment of eye
0.004 0.996 0.000
Q66.3 Other congenital varus deformities of feet
0.004 0.996 0.000
Q10 Congenital malformations of eyelid, lachrymal apparatus and orbit
0.004 0.996 0.000
Q35.9 Cleft palate, unspecified
0.004 0.996 0.000
Q11 Anophthalmos, microphthalmos and macrophthalmos
0.004 0.996 0.000
Q52.8 Other specified congenital malformations of female genitalia
0.004 0.996 0.000
Q65.2 Congenital dislocation of hip, unspecified
0.004 0.996 0.000
Q82.2 Mastocytosis
0.004 0.996 0.000
Q76.1 Klippel-Feil syndrome
0.004 0.996 0.000
Q60.0 Renal agenesis, unilateral
0.004 0.996 0.000
C49.9 Connective and soft tissue, unspecified
0.000 0.996 0.004
Q87.5 Other congenital malformation syndromes with other skeletal changes
0.004 0.996 0.000
Q87.3 Congenital malformation syndromes involving early overgrowth
0.004 0.996 0.000
Q55 Other congenital malformations of male genital organs
0.004 0.996 0.000
Q53.1 Undescended testicle, unilateral
0.004 0.996 0.000
Q50.4 Embryonic cyst of Fallopian tube
0.004 0.996 0.000
E27.1 Primary adrenocortical insufficiency
0.004 0.996 0.000
Q21.3 Tetralogy of Fallot
0.004 0.996 0.000
Q37.8 Unspecified cleft palate with bilateral cleft lip
0.004 0.996 0.000
Q37.5 Cleft hard and soft palate with unilateral cleft lip
0.004 0.996 0.000
Q37.4 Cleft hard and soft palate with bilateral cleft lip
0.004 0.996 0.000
Q37.3 Cleft soft palate with unilateral cleft lip
0.004 0.996 0.000
Q37.2 Cleft soft palate with bilateral cleft lip
0.004 0.996 0.000
Q37.1 Cleft hard palate with unilateral cleft lip
0.004 0.996 0.000
Q37.0 Cleft hard palate with bilateral cleft lip
0.004 0.996 0.000
Q82.0 Hereditary lymphoedema
0.004 0.996 0.000
Q87.2 Congenital malformation syndromes predominantly involving limbs
0.004 0.996 0.000
Q15 Other congenital malformations of eye
0.004 0.996 0.000
L21.9 Seborrhoeic dermatitis, unspecified
0.000 0.996 0.004
Q81.9 Epidermolysis bullosa, unspecified
0.004 0.996 0.000
Q81.8 Other epidermolysis bullosa
0.004 0.996 0.000
Q81.2 Epidermolysis bullosa dystrophica
0.004 0.996 0.000
Q81.1 Epidermolysis bullosa letalis
0.004 0.996 0.000
Q81.0 Epidermolysis bullosa simplex
0.004 0.996 0.000
Q84.9 Congenital malformation of integument, unspecified
0.004 0.996 0.000
Q84.8 Other specified congenital malformations of integument
0.004 0.996 0.000
Q84.6 Other congenital malformations of nails
0.004 0.996 0.000
Q84.5 Enlarged and hypertrophic nails
0.004 0.996 0.000
Q84.4 Congenital leukonychia
0.004 0.996 0.000
Q84.3 Anonychia
0.004 0.996 0.000
Q84.2 Other congenital malformations of hair
0.004 0.996 0.000
Q84.1 Congenital morphological disturbances of hair, not elsewhere classified
0.004 0.996 0.000
Q84.0 Congenital alopecia
0.004 0.996 0.000
Q86.8 Other congenital malformation syndromes due to known exogenous causes
0.004 0.996 0.000
Q86.2 Dysmorphism due to warfarin
0.004 0.996 0.000
Q86.1 Foetal hydantoin syndrome
0.004 0.996 0.000
Q86.0 Foetal alcohol syndrome (dysmorphic)
0.004 0.996 0.000
Q65.9 Congenital deformity of hip, unspecified
0.004 0.996 0.000
Q65.6 Unstable hip
0.004 0.996 0.000
Q65.5 Congenital subluxation of hip, unspecified
0.004 0.996 0.000
Q65.4 Congenital subluxation of hip, bilateral
0.004 0.996 0.000
Q65.3 Congenital subluxation of hip, unilateral
0.004 0.996 0.000
Q65.1 Congenital dislocation of hip, bilateral
0.004 0.996 0.000
Q65.0 Congenital dislocation of hip, unilateral
0.004 0.996 0.000
Q76.0 Spina bifida occulta
0.004 0.996 0.000
Q80.8 Other congenital ichthyosis
0.004 0.996 0.000
Q80.4 Harlequin foetus
0.004 0.996 0.000
Q80.3 Congenital bullous ichthyosiform erythroderma
0.004 0.996 0.000
Q80.2 Lamellar ichthyosis
0.004 0.996 0.000
Q80.1 X-linked ichthyosis
0.004 0.996 0.000
Q80.0 Ichthyosis vulgaris
0.004 0.996 0.000
Q53.2 Undescended testicle, bilateral
0.004 0.996 0.000
Q80.9 Congenital ichthyosis, unspecified
0.004 0.996 0.000
Q82.9 Congenital malformation of skin, unspecified
0.004 0.996 0.000
Q82.4 Ectodermal dysplasia (anhidrotic)
0.004 0.996 0.000
Q82.3 Incontinentia pigmenti
0.004 0.996 0.000
Q82.1 Xeroderma pigmentosum
0.004 0.996 0.000
Q35.8 (Cleft palate, unspecified, bilateral)
0.004 0.996 0.000
Q35.7 Cleft uvula
0.004 0.996 0.000
Q35.6 Cleft palate, medial
0.004 0.996 0.000
Q35.5 Cleft hard palate with cleft soft palate
0.004 0.996 0.000
Q35.4 (Cleft hard palate with cleft soft palate, bilateral)
0.004 0.996 0.000
Q35.3 Cleft soft palate
0.004 0.996 0.000
Q35.2 (Cleft soft palate, bilateral)
0.004 0.996 0.000
Q35.1 Cleft hard palate
0.004 0.996 0.000
Q35.0 (Cleft hard palate, bilateral)
0.004 0.996 0.000
Q74.2 Other congenital malformations of lower limb(s), including pelvic girdle
0.004 0.996 0.000
Q77.4 Achondroplasia
0.004 0.996 0.000
Q05 Spina bifida
0.004 0.996 0.000
Q64 Other congenital malformations of urinary system
0.004 0.996 0.000
Q31 Congenital malformations of larynx
0.004 0.996 0.000
Q52.9 Congenital malformation of female genitalia, unspecified
0.004 0.996 0.000
Q52.7 Other congenital malformations of vulva
0.004 0.996 0.000
Q52.6 Congenital malformation of clitoris
0.004 0.996 0.000
Q52.3 Imperforate hymen
0.004 0.996 0.000
Q52.2 Congenital rectovaginal fistula
0.004 0.996 0.000
Q52.0 Congenital absence of vagina
0.004 0.996 0.000
Q98.9 Sex chromosome abnormality, male phenotype, unspecified
0.004 0.996 0.000
Q98.8 Other specified sex chromosome abnormalities, male phenotype
0.004 0.996 0.000
Q98.7 Male with sex chromosome mosaicism
0.004 0.996 0.000
Q98.6 Male with structurally abnormal sex chromosome
0.004 0.996 0.000
Q98.5 Karyotype 47,XYY
0.004 0.996 0.000
Q98.3 Other male with 46,XX karyotype
0.004 0.996 0.000
Q98.2 Klinefelter's syndrome, male with 46,XX karyotype
0.004 0.996 0.000
Q98.1 Klinefelter's syndrome, male with more than two X chromosomes
0.004 0.996 0.000
Q98.0 Klinefelter's syndrome karyotype 47,XXY
0.004 0.996 0.000
Q89 Other congenital malformations, not elsewhere classified
0.003 0.996 0.001
K13.7 Other and unspecified lesions of oral mucosa
0.004 0.996 0.000
Q52.1 Doubling of vagina
0.004 0.996 0.000
Q03 Congenital hydrocephalus
0.004 0.996 0.000
Q17.9 Congenital malformation of ear, unspecified
0.004 0.996 0.000
Q17.8 Other specified congenital malformations of ear
0.004 0.996 0.000
Q17.4 Misplaced ear
0.004 0.996 0.000
Q17.3 Other misshapen ear
0.004 0.996 0.000
Q17.2 Microtia
0.004 0.996 0.000
Q17.1 Macrotia
0.004 0.996 0.000
Q17.0 Accessory auricle
0.004 0.996 0.000
Q52.4 Other congenital malformations of vagina
0.004 0.996 0.000
Q36.9 Cleft lip, unilateral
0.004 0.996 0.000
Q36.1 Cleft lip, medial
0.004 0.996 0.000
Q36.0 Cleft lip, bilateral
0.004 0.996 0.000
Q60.6 Potter's syndrome
0.004 0.996 0.000
Q60.5 Renal hypoplasia, unspecified
0.004 0.996 0.000
Q60.4 Renal hypoplasia, bilateral
0.004 0.996 0.000
Q60.1 Renal agenesis, bilateral
0.004 0.996 0.000
L29.9 Pruritus, unspecified
0.000 0.996 0.004
Q04 Other congenital malformations of brain
0.004 0.996 0.000
Q60.3 Renal hypoplasia, unilateral
0.004 0.996 0.000
Q87.4 Marfan's syndrome
0.004 0.996 0.000

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

The full results table can be downloaded from this page.