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Variant-specific associations

rs2048672
log Bayes Factor = <0.0001
Chromosome 7   position 130,653,851  (GRCh37) Explore rs2048672 on Ensembl!
Variant rs2048672 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
 
N03.9 Unspecified
0.000 0.987 0.013
Z83.7 Family history of diseases of the digestive system
0.010 0.990 0.000
Z63.4 Disappearance and death of family member
0.007 0.993 0.000
N86 Erosion and ectropion of cervix uteri
0.000 0.994 0.006
S62.80 Fracture of other and unspecified parts of wrist and hand (closed)
0.006 0.994 0.000
M13.96 Arthritis, unspecified (Lower leg)
0.000 0.994 0.006
Y40.9 Systemic antibiotic, unspecified
0.005 0.995 0.000
C77.4 Inguinal and lower limb lymph nodes
0.005 0.995 0.000
J10.1 Influenza with other respiratory manifestations, influenza virus identified
0.005 0.995 0.000
C77.3 Axillary and upper limb lymph nodes
0.000 0.995 0.005
N03 Chronic nephritic syndrome
0.000 0.995 0.004
Z63 Other problems related to primary support group, including family circumstances
0.005 0.995 0.000
I67.2 Cerebral atherosclerosis
0.000 0.996 0.004
Z97.5 Presence of (intra-uterine) contraceptive device
0.004 0.996 0.000
Z63.7 Other stressful life events affecting family and household
0.004 0.996 0.000
Z89.4 Acquired absence of foot and ankle
0.004 0.996 0.000
C80.0 Malignant neoplasm, primary site unknown, so stated
0.004 0.996 0.000
T83.1 Mechanical complication of other urinary devices and implants
0.000 0.996 0.004
Z63.8 Other specified problems related to primary support group
0.004 0.996 0.000
Z63.6 Dependent relative needing care at home
0.004 0.996 0.000
A49.0 Staphylococcal infection, unspecified
0.004 0.996 0.000
N03.8 Other
0.000 0.996 0.003
N03.7 Diffuse crescentic glomerulonephritis
0.000 0.996 0.003
N03.6 Dense deposit disease
0.000 0.996 0.003
N03.4 Diffuse endocapillary proliferative glomerulonephritis
0.000 0.996 0.003
N03.3 Diffuse mesangial proliferative glomerulonephritis
0.000 0.996 0.003
N03.2 Diffuse membranous glomerulonephritis
0.000 0.996 0.003
N03.0 Minor glomerular abnormality
0.000 0.996 0.003
Z63.9 Problem related to primary support group, unspecified
0.003 0.996 0.000
Z63.3 Absence of family member
0.003 0.996 0.000
Z63.2 Inadequate family support
0.003 0.996 0.000
Z63.1 Problems in relationship with parents and in-laws
0.003 0.996 0.000
C77.5 Intrapelvic lymph nodes
0.004 0.996 0.000
T83.5 Infection and inflammatory reaction due to prosthetic device, implant and graft in urinary system
0.000 0.996 0.003
Z63.0 Problems in relationship with spouse or partner
0.003 0.997 0.000
Y40 Systemic antibiotics
0.003 0.997 0.000
M79.60 Pain in limb (Multiple sites)
0.003 0.997 0.000
R26.3 Immobility
0.000 0.997 0.003
Y40.0 Penicillins
0.003 0.997 0.000
N03.5 Diffuse mesangiocapillary glomerulonephritis
0.000 0.997 0.003
Z63.5 Disruption of family by separation and divorce
0.003 0.997 0.000
Q63 Other congenital malformations of kidney
0.003 0.997 0.000
I08.2 Disorders of both aortic and tricuspid valves
0.000 0.997 0.003
Q54 Hypospadias
0.003 0.997 0.000
R45.1 Restlessness and agitation
0.000 0.997 0.003
G56.2 Lesion of ulnar nerve
0.000 0.997 0.003
N03.1 Focal and segmental glomerular lesions
0.001 0.997 0.003
Y40.5 Aminoglycosides
0.003 0.997 0.000
Q60-Q64 Congenital malformations of the urinary system
0.003 0.997 0.000
Q63.0 Accessory kidney
0.003 0.997 0.000
Q54.8 Other hypospadias
0.003 0.997 0.000
T83.0 Mechanical complication of urinary (indwelling) catheter
0.000 0.997 0.003
Q54.9 Hypospadias, unspecified
0.003 0.997 0.000
T83 Complications of genito-urinary prosthetic devices, implants and grafts
0.000 0.997 0.003
L08.9 Local infection of skin and subcutaneous tissue, unspecified
0.000 0.997 0.003
M19.90 Arthrosis, unspecified (Multiple sites)
0.000 0.997 0.003
Y40.1 Cefalosporins and other -lactam antibiotics
0.003 0.997 0.000
T83.6 Infection and inflammatory reaction due to prosthetic device, implant and graft in genital tract
0.000 0.997 0.003
Q50-Q56 Congenital malformations of genital organs
0.003 0.997 0.000
J10 Influenza due to identified influenza virus
0.003 0.997 0.000
Q63.8 Other specified congenital malformations of kidney
0.003 0.997 0.000
Q62 Congenital obstructive defects of renal pelvis and congenital malformations of ureter
0.003 0.997 0.000
M47.80 Other spondylosis (Multiple sites in spine)
0.003 0.997 0.000
J10.0 Influenza with pneumonia, influenza virus identified
0.003 0.997 0.000
J02.9 Acute pharyngitis, unspecified
0.000 0.997 0.003
Q63.9 Congenital malformation of kidney, unspecified
0.003 0.997 0.000
Z83.4 Family history of other endocrine, nutritional and metabolic diseases
0.003 0.997 0.000
L71.9 Rosacea, unspecified
0.003 0.997 0.000
S13.4 Sprain and strain of cervical spine
0.003 0.997 0.000
D03.6 Melanoma in situ of upper limb, including shoulder
0.003 0.997 0.000
S62.8 Fracture of other and unspecified parts of wrist and hand
0.003 0.997 0.000
I11.9 Hypertensive heart disease without (congestive) heart failure
0.003 0.997 0.000
Q62.5 Duplication of ureter
0.003 0.997 0.000
Q63.1 Lobulated, fused and horseshoe kidney
0.003 0.997 0.000
T83.9 Unspecified complication of genito-urinary prosthetic device, implant and graft
0.000 0.997 0.003
Y40.7 Antifungal antibiotics, systemically used
0.003 0.997 0.000
Y40.4 Tetracyclines
0.003 0.997 0.000
Y40.2 Chloramphenicol group
0.003 0.997 0.000
Y40.6 Rifamycins
0.003 0.997 0.000
Q64 Other congenital malformations of urinary system
0.003 0.997 0.000
A49.1 Streptococcal infection, unspecified
0.003 0.997 0.000
S13 Dislocation, sprain and strain of joints and ligaments at neck level
0.003 0.997 0.000
Q65-Q79 Congenital malformations and deformations of the musculoskeletal system
0.003 0.997 0.000
Q63.3 Hyperplastic and giant kidney
0.003 0.997 0.000
Q66 Congenital deformities of feet
0.003 0.997 0.000
D05.1 Intraductal carcinoma in situ
0.003 0.997 0.000
S13.6 Sprain and strain of joints and ligaments of other and unspecified parts of neck
0.003 0.997 0.000
Q54.4 Congenital chordee
0.002 0.997 0.000
Q54.3 Hypospadias, perineal
0.002 0.997 0.000
Q54.2 Hypospadias, penoscrotal
0.002 0.997 0.000
Q63.2 Ectopic kidney
0.002 0.997 0.000
Q54.1 Hypospadias, penile
0.002 0.997 0.000
Q54.0 Hypospadias, balanic
0.002 0.997 0.000
Y40.3 Macrolides
0.002 0.997 0.000
Q55 Other congenital malformations of male genital organs
0.002 0.997 0.000
Chapter XVII Congenital malformations, deformations and chromosomal abnormalities
0.003 0.997 0.000
D38.1 Trachea, bronchus and lung
0.000 0.997 0.003
Q55.2 Other congenital malformations of testis and scrotum
0.002 0.997 0.000
S13.1 Dislocation of cervical vertebra
0.002 0.997 0.000
Q79.8 Other congenital malformations of musculoskeletal system
0.002 0.997 0.000
M72.27 Plantar fascial fibromatosis-Ankle/Foot
0.000 0.997 0.002
Q50 Congenital malformations of ovaries, Fallopian tubes and broad ligaments
0.002 0.998 0.000
Q79 Congenital malformations of musculoskeletal system, not elsewhere classified
0.002 0.998 0.000
Q66.3 Other congenital varus deformities of feet
0.002 0.998 0.000
C80 Malignant neoplasm without specification of site
0.002 0.998 0.000
Q52 Other congenital malformations of female genitalia
0.002 0.998 0.000
I08.3 Combined disorders of mitral, aortic and tricuspid valves
0.000 0.998 0.002
Q61 Cystic kidney disease
0.002 0.998 0.000
M16.3 Other dysplastic coxarthrosis
0.002 0.998 0.000
Q56 Indeterminate sex and pseudohermaphroditism
0.002 0.998 0.000
Q60 Renal agenesis and other reduction defects of kidney
0.002 0.998 0.000
H26.8 Other specified cataract
0.002 0.998 0.000
J10.8 Influenza with other manifestations, influenza virus identified
0.002 0.998 0.000
Q43.9 Congenital malformation of intestine, unspecified
0.002 0.998 0.000
Q62.8 Other congenital malformations of ureter
0.002 0.998 0.000
Q62.7 Congenital vesico-uretero-renal reflux
0.002 0.998 0.000
Q62.6 Malposition of ureter
0.002 0.998 0.000
Q62.4 Agenesis of ureter
0.002 0.998 0.000
Q62.3 Other obstructive defects of renal pelvis and ureter
0.002 0.998 0.000
Q62.2 Congenital megaloureter
0.002 0.998 0.000
Q62.1 Atresia and stenosis of ureter
0.002 0.998 0.000
Q62.0 Congenital hydronephrosis
0.002 0.998 0.000
Z01.6 Radiological examination, not elsewhere classified
0.000 0.998 0.002
S02.50 Fracture of tooth (closed)
0.002 0.998 0.000
Q64.7 Other congenital malformations of bladder and urethra
0.002 0.998 0.000
Q66.6 Other congenital valgus deformities of feet
0.002 0.998 0.000
R45 Symptoms and signs involving emotional state
0.000 0.998 0.002
C80.9 Malignant neoplasm, unspecified
0.002 0.998 0.000
Q64.3 Other atresia and stenosis of urethra and bladder neck
0.002 0.998 0.000
Z83 Family history of other specific disorders
0.002 0.998 0.000
Q66.0 Talipes equinovarus
0.002 0.998 0.000
Q90-Q99 Chromosomal abnormalities, not elsewhere classified
0.002 0.998 0.000
S62.81 Fracture of other and unspecified parts of wrist and hand (open)
0.002 0.998 0.000
Q18.0 Sinus, fistula and cyst of branchial cleft
0.002 0.998 0.000
Q61.0 Congenital single renal cyst
0.002 0.998 0.000
Q66.8 Other congenital deformities of feet
0.002 0.998 0.000
D45 Polycythaemia vera
0.002 0.998 0.000
Q51 Congenital malformations of uterus and cervix
0.002 0.998 0.000
Q65 Congenital deformities of hip
0.002 0.998 0.000
M80.90 Unspecified osteoporosis with pathological fracture (Multiple sites)
0.000 0.998 0.002
Q53 Undescended testicle
0.002 0.998 0.000
Q76 Congenital malformations of spine and bony thorax
0.002 0.998 0.000
M80.99 Unspecified osteoporosis with pathological fracture (Site unspecified)
0.000 0.998 0.002
Q64.9 Congenital malformation of urinary system, unspecified
0.002 0.998 0.000
Q64.8 Other specified congenital malformations of urinary system
0.002 0.998 0.000
Q64.6 Congenital diverticulum of bladder
0.002 0.998 0.000
Q64.5 Congenital absence of bladder and urethra
0.002 0.998 0.000
Q64.4 Malformation of urachus
0.002 0.998 0.000
Q64.2 Congenital posterior urethral valves
0.002 0.998 0.000
Q64.1 Exstrophy of urinary bladder
0.002 0.998 0.000
Q64.0 Epispadias
0.002 0.998 0.000
Q66.9 Congenital deformity of feet, unspecified
0.002 0.998 0.000
Q77 Osteochondrodysplasia with defects of growth of tubular bones and spine
0.002 0.998 0.000
Q38-Q45 Other congenital malformations of the digestive system
0.002 0.998 0.000
H02.3 Blepharochalasis
0.000 0.998 0.002
R45.8 Other symptoms and signs involving emotional state
0.000 0.998 0.002
X62.9 Unspecified place
0.000 0.998 0.002
Q78 Other osteochondrodysplasias
0.002 0.998 0.000
S13.5 Sprain and strain of thyroid region
0.002 0.998 0.000
S13.3 Multiple dislocations of neck
0.002 0.998 0.000
S13.2 Dislocation of other and unspecified parts of neck
0.002 0.998 0.000
S13.0 Traumatic rupture of cervical intervertebral disk
0.002 0.998 0.000
Q18 Other congenital malformations of face and neck
0.002 0.998 0.000
R26 Abnormalities of gait and mobility
0.000 0.998 0.002
Q66.5 Congenital pes planus
0.002 0.998 0.000
Q66.4 Talipes calcaneovalgus
0.002 0.998 0.000
Q66.1 Talipes calcaneovarus
0.002 0.998 0.000
R45.0 Nervousness
0.000 0.998 0.002
Q75 Other congenital malformations of skull and face bones
0.002 0.998 0.000
Q73 Reduction defects of unspecified limb
0.002 0.998 0.000
Q72 Reduction defects of lower limb
0.002 0.998 0.000
Q71 Reduction defects of upper limb
0.002 0.998 0.000
Q70 Syndactyly
0.002 0.998 0.000
Q69 Polydactyly
0.002 0.998 0.000
Q68 Other congenital musculoskeletal deformities
0.002 0.998 0.000
Q61.4 Renal dysplasia
0.002 0.998 0.000
Q90 Down's syndrome
0.002 0.998 0.000
T83.8 Other complications of genito-urinary prosthetic devices, implants and grafts
0.000 0.998 0.002
I08.1 Disorders of both mitral and tricuspid valves
0.000 0.998 0.002
I08 Multiple valve diseases
0.000 0.998 0.002
Q10-Q18 Congenital malformations of eye, ear, face and neck
0.002 0.998 0.000
S92.50 Fracture of other toe (closed)
0.002 0.998 0.000
Q50.5 Embryonic cyst of broad ligament
0.002 0.998 0.000
Q55.9 Congenital malformation of male genital organ, unspecified
0.002 0.998 0.000
Q55.8 Other specified congenital malformations of male genital organs
0.002 0.998 0.000
Q55.5 Congenital absence and aplasia of penis
0.002 0.998 0.000
Q55.4 Other congenital malformations of vas deferens, epididymis, seminal vesicles and prostate
0.002 0.998 0.000
Q55.3 Atresia of vas deferens
0.002 0.998 0.000
Q55.1 Hypoplasia of testis and scrotum
0.002 0.998 0.000
Q55.0 Absence and aplasia of testis
0.002 0.998 0.000
T83.2 Mechanical complication of graft of urinary organ
0.000 0.998 0.002
Q30-Q34 Congenital malformations of the respiratory system
0.002 0.998 0.000
Q90.9 Down's syndrome, unspecified
0.002 0.998 0.000
Q51.8 Other congenital malformations of uterus and cervix
0.002 0.998 0.000
Q66.2 Metatarsus varus
0.002 0.998 0.000
Q43 Other congenital malformations of intestine
0.002 0.998 0.000
Q35-Q37 Cleft lip and cleft palate
0.002 0.998 0.000
Q76.0 Spina bifida occulta
0.002 0.998 0.000
R45.2 Unhappiness
0.000 0.998 0.002
Y40.8 Other systemic antibiotics
0.002 0.998 0.000
M80.9 Unspecified osteoporosis with pathological fracture
0.000 0.998 0.002
Q51.1 Doubling of uterus with doubling of cervix and vagina
0.002 0.998 0.000
Q52.1 Doubling of vagina
0.002 0.998 0.000
R26.8 Other and unspecified abnormalities of gait and mobility
0.000 0.998 0.002
Q50.6 Other congenital malformatons of Fallopian tube and broad ligament
0.002 0.998 0.000
Q50.3 Other congenital malformations of ovary
0.002 0.998 0.000
Q50.2 Congenital torsion of ovary
0.002 0.998 0.000
Q50.1 Developmental ovarian cyst
0.002 0.998 0.000
Q50.0 Congenital absence of ovary
0.002 0.998 0.000
Q60.2 Renal agenesis, unspecified
0.002 0.998 0.000
Q79.9 Congenital malformation of musculoskeletal system, unspecified
0.002 0.998 0.000
Q79.5 Other congenital malformations of abdominal wall
0.002 0.998 0.000
Q79.4 Prune belly syndrome
0.002 0.998 0.000
Q79.3 Gastroschisis
0.002 0.998 0.000
Q79.2 Exomphalos
0.002 0.998 0.000
Q79.1 Other congenital malformations of diaphragm
0.002 0.998 0.000
Q79.0 Congenital diaphragmatic hernia
0.002 0.998 0.000
Q52.9 Congenital malformation of female genitalia, unspecified
0.002 0.998 0.000
Q52.8 Other specified congenital malformations of female genitalia
0.002 0.998 0.000
Q52.7 Other congenital malformations of vulva
0.002 0.998 0.000
Q52.6 Congenital malformation of clitoris
0.002 0.998 0.000
Q52.5 Fusion of labia
0.002 0.998 0.000
Q52.4 Other congenital malformations of vagina
0.002 0.998 0.000
Q52.3 Imperforate hymen
0.002 0.998 0.000
Q52.2 Congenital rectovaginal fistula
0.002 0.998 0.000
Q52.0 Congenital absence of vagina
0.002 0.998 0.000
R45.6 Physical violence
0.000 0.998 0.002
Z83.2 Family history of diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism
0.002 0.998 0.000
Q67 Congenital musculoskeletal deformities of head, face, spine and chest
0.002 0.998 0.000
Q61.8 Other cystic kidney diseases
0.002 0.998 0.000
Q61.1 Polycystic kidney, infantile type
0.002 0.998 0.000
Q56.4 Indeterminate sex, unspecified
0.002 0.998 0.000
Q56.3 Pseudohermaphroditism, unspecified
0.002 0.998 0.000
Q56.2 Female pseudohermaphroditism, not elsewhere classified
0.002 0.998 0.000
Q56.1 Male pseudohermaphroditism, not elsewhere classified
0.002 0.998 0.000
Q56.0 Hermaphroditism, not elsewhere classified
0.002 0.998 0.000
Q60.6 Potter's syndrome
0.002 0.998 0.000
Q60.5 Renal hypoplasia, unspecified
0.002 0.998 0.000
Q60.4 Renal hypoplasia, bilateral
0.002 0.998 0.000
Q60.3 Renal hypoplasia, unilateral
0.002 0.998 0.000
Q60.1 Renal agenesis, bilateral
0.002 0.998 0.000
Q66.7 Pes cavus
0.002 0.998 0.000
V19.3 Pedal cyclist [any] injured in an unspecified nontraffic accident
0.002 0.998 0.000
A49 Bacterial infection of unspecified site
0.002 0.998 0.000
Q65.8 Other congenital deformities of hip
0.002 0.998 0.000
Q39 Congenital malformations of oesophagus
0.002 0.998 0.000
A49.2 Haemophilus influenzae infection, unspecified
0.002 0.998 0.000
Q76.1 Klippel-Feil syndrome
0.002 0.998 0.000
R45.5 Hostility
0.000 0.998 0.002
R45.3 Demoralisation and apathy
0.000 0.998 0.002
Z83.0 Family history of human immunodeficiency virus [HIV]
0.002 0.998 0.000
M72.04 Palmar fascial fibromatosis [Dupuytren]-Hand
0.000 0.998 0.002
Q65.2 Congenital dislocation of hip, unspecified
0.002 0.998 0.000
M62.86 Other specified disorders of muscle (Lower leg)
0.002 0.998 0.000
Q50.4 Embryonic cyst of Fallopian tube
0.002 0.998 0.000
Q51.9 Congenital malformation of uterus and cervix, unspecified
0.002 0.998 0.000
Q51.7 Congenital fistulae between uterus and digestive and urinary tracts
0.002 0.998 0.000
Q51.6 Embryonic cyst of cervix
0.002 0.998 0.000
Q51.5 Agenesis and aplasia of cervix
0.002 0.998 0.000
Q51.4 Unicornate uterus
0.002 0.998 0.000
Q51.2 Other doubling of uterus
0.002 0.998 0.000
Q51.0 Agenesis and aplasia of uterus
0.002 0.998 0.000
Q65.9 Congenital deformity of hip, unspecified
0.002 0.998 0.000
Q65.6 Unstable hip
0.002 0.998 0.000
Q65.5 Congenital subluxation of hip, unspecified
0.002 0.998 0.000
Q65.4 Congenital subluxation of hip, bilateral
0.002 0.998 0.000
Q65.3 Congenital subluxation of hip, unilateral
0.002 0.998 0.000
Q65.1 Congenital dislocation of hip, bilateral
0.002 0.998 0.000
Q65.0 Congenital dislocation of hip, unilateral
0.002 0.998 0.000
R45.7 State of emotional shock and stress, unspecified
0.000 0.998 0.002
Q99 Other chromosome abnormalities, not elsewhere classified
0.002 0.998 0.000
Q98 Other sex chromosome abnormalities, male phenotype, not elsewhere classified
0.002 0.998 0.000
Q97 Other sex chromosome abnormalities, female phenotype, not elsewhere classified
0.002 0.998 0.000
Q95 Balanced rearrangements and structural markers, not elsewhere classified
0.002 0.998 0.000
Q93 Monosomies and deletions from the autosomes, not elsewhere classified
0.002 0.998 0.000
Q92 Other trisomies and partial trisomies of the autosomes, not elsewhere classified
0.002 0.998 0.000
Q91 Edwards' syndrome and Patau's syndrome
0.002 0.998 0.000
Q53.9 Undescended testicle, unspecified
0.002 0.998 0.000
Q53.2 Undescended testicle, bilateral
0.002 0.998 0.000
Q53.0 Ectopic testis
0.002 0.998 0.000
Q76.9 Congenital malformation of bony thorax, unspecified
0.002 0.998 0.000
Q76.8 Other congenital malformations of bony thorax
0.002 0.998 0.000
Q76.7 Congenital malformation of sternum
0.002 0.998 0.000
Q76.6 Other congenital malformations of ribs
0.002 0.998 0.000
Q76.5 Cervical rib
0.002 0.998 0.000
Q76.3 Congenital scoliosis due to congenital bony malformation
0.002 0.998 0.000
Q76.2 Congenital spondylolisthesis
0.002 0.998 0.000
Q77.4 Achondroplasia
0.002 0.998 0.000
Z83.1 Family history of other infectious and parasitic diseases
0.002 0.998 0.000
Q45 Other congenital malformations of digestive system
0.002 0.998 0.000
Q61.5 Medullary cystic kidney
0.002 0.998 0.000
R45.4 Irritability and anger
0.000 0.998 0.002
M77.12 Lateral epicondylitis (Upper arm)
0.000 0.998 0.002
Q18.1 Preauricular sinus and cyst
0.002 0.998 0.000
Q43.1 Hirschsprung's disease
0.002 0.998 0.000
Q77.9 Osteochondrodysplasia with defects of growth of tubular bones and spine, unspecified
0.002 0.998 0.000
Q77.8 Other osteochondrodysplasia with defects of growth of tubular bones and spine
0.002 0.998 0.000
Q77.7 Spondyloepiphyseal dysplasia
0.002 0.998 0.000
Q77.6 Chondroectodermal dysplasia
0.002 0.998 0.000
Q77.5 Diastrophic dysplasia
0.002 0.998 0.000
Q77.3 Chondrodysplasia punctata
0.002 0.998 0.000
Q77.2 Short rib syndrome
0.002 0.998 0.000
Q77.1 Thanatophoric short stature
0.002 0.998 0.000
Q77.0 Achondrogenesis
0.002 0.998 0.000
R26.0 Ataxic gait
0.000 0.998 0.002
Q42 Congenital absence, atresia and stenosis of large intestine
0.002 0.998 0.000
Q41 Congenital absence, atresia and stenosis of small intestine
0.002 0.998 0.000
Q40 Other congenital malformations of upper alimentary tract
0.002 0.998 0.000
Q96 Turner's syndrome
0.002 0.998 0.000
Q18.9 Congenital malformation of face and neck, unspecified
0.002 0.998 0.000
Q18.8 Other specified congenital malformations of face and neck
0.002 0.998 0.000
Q18.7 Microcheilia
0.002 0.998 0.000
Q18.6 Macrocheilia
0.002 0.998 0.000
Q18.5 Microstomia
0.002 0.998 0.000
Q18.4 Macrostomia
0.002 0.998 0.000
Q18.3 Webbing of neck
0.002 0.998 0.000
Q18.2 Other branchial cleft malformations
0.002 0.998 0.000
Q55.6 Other congenital malformations of penis
0.002 0.998 0.000
Q61.9 Cystic kidney disease, unspecified
0.002 0.998 0.000
Q78.9 Osteochondrodysplasia, unspecified
0.002 0.998 0.000
Q78.8 Other specified osteochondrodysplasias
0.002 0.998 0.000
Q78.6 Multiple congenital exostoses
0.002 0.998 0.000
Q78.5 Metaphyseal dysplasia
0.002 0.998 0.000
Q78.4 Enchondromatosis
0.002 0.998 0.000
Q78.3 Progressive diaphyseal dysplasia
0.002 0.998 0.000
Q78.2 Osteopetrosis
0.002 0.998 0.000
Q78.1 Polyostotic fibrous dysplasia
0.002 0.998 0.000
Q78.0 Osteogenesis imperfecta
0.002 0.998 0.000
R26.1 Paralytic gait
0.000 0.998 0.002
M50.0 Cervical disk disorder with myelopathy
0.000 0.998 0.002
Q68.8 Other specified congenital musculoskeletal deformities
0.002 0.998 0.000
Q68.5 Congenital bowing of long bones of leg, unspecified
0.002 0.998 0.000
Q68.4 Congenital bowing of tibia and fibula
0.002 0.998 0.000
Q68.3 Congenital bowing of femur
0.002 0.998 0.000
Q68.2 Congenital deformity of knee
0.002 0.998 0.000
Q68.1 Congenital deformity of hand
0.002 0.998 0.000
Q68.0 Congenital deformity of sternocleidomastoid muscle
0.002 0.998 0.000
Q69.9 Polydactyly, unspecified
0.002 0.998 0.000
Q69.2 Accessory toe(s)
0.002 0.998 0.000
Q69.1 Accessory thumb(s)
0.002 0.998 0.000
Q69.0 Accessory finger(s)
0.002 0.998 0.000
Q70.9 Syndactyly, unspecified
0.002 0.998 0.000
Q70.4 Polysyndactyly
0.002 0.998 0.000
Q70.3 Webbed toes
0.002 0.998 0.000
Q70.2 Fused toes
0.002 0.998 0.000
Q70.1 Webbed fingers
0.002 0.998 0.000
Q70.0 Fused fingers
0.002 0.998 0.000
Q71.9 Reduction defect of upper limb, unspecified
0.002 0.998 0.000
Q71.8 Other reduction defects of upper limb(s)
0.002 0.998 0.000
Q71.6 Lobster-claw hand
0.002 0.998 0.000
Q71.5 Longitudinal reduction defect of ulna
0.002 0.998 0.000
Q71.4 Longitudinal reduction defect of radius
0.002 0.998 0.000
Q71.3 Congenital absence of hand and finger(s)
0.002 0.998 0.000
Q71.2 Congenital absence of both forearm and hand
0.002 0.998 0.000
Q71.1 Congenital absence of upper arm and forearm with hand present
0.002 0.998 0.000
Q71.0 Congenital complete absence of upper limb(s)
0.002 0.998 0.000
Q72.9 Reduction defect of lower limb, unspecified
0.002 0.998 0.000
Q72.8 Other reduction defects of lower limb(s)
0.002 0.998 0.000
Q72.7 Split foot
0.002 0.998 0.000
Q72.6 Longitudinal reduction defect of fibula
0.002 0.998 0.000
Q72.5 Longitudinal reduction defect of tibia
0.002 0.998 0.000
Q72.4 Longitudinal reduction defect of femur
0.002 0.998 0.000
Q72.3 Congenital absence of foot and toe(s)
0.002 0.998 0.000
Q72.2 Congenital absence of both lower leg and foot
0.002 0.998 0.000
Q72.1 Congenital absence of thigh and lower leg with foot present
0.002 0.998 0.000
Q72.0 Congenital complete absence of lower limb(s)
0.002 0.998 0.000
Q73.8 Other reduction defects of unspecified limb(s)
0.002 0.998 0.000
Q73.1 Phocomelia, unspecified limb(s)
0.002 0.998 0.000
Q73.0 Congenital absence of unspecified limb(s)
0.002 0.998 0.000
Q75.9 Congenital malformation of skull and face bones, unspecified
0.002 0.998 0.000
Q75.8 Other specified congenital malformations of skull and face bones
0.002 0.998 0.000
Q75.5 Oculomandibular dysostosis
0.002 0.998 0.000
Q75.4 Mandibulofacial dysostosis
0.002 0.998 0.000
Q75.3 Macrocephaly
0.002 0.998 0.000
Q75.2 Hypertelorism
0.002 0.998 0.000
Q75.1 Craniofacial dysostosis
0.002 0.998 0.000
Q75.0 Craniosynostosis
0.002 0.998 0.000
Q14 Congenital malformations of posterior segment of eye
0.002 0.998 0.000
Q43.8 Other specified congenital malformations of intestine
0.002 0.998 0.000
Q90.2 Trisomy 21, translocation
0.002 0.998 0.000
Q90.1 Trisomy 21, mosaicism (mitotic nondisjunction)
0.002 0.998 0.000
Q90.0 Trisomy 21, meiotic nondisjunction
0.002 0.998 0.000
R25.8 Other and unspecified abnormal involuntary movements
0.000 0.998 0.002
Q11 Anophthalmos, microphthalmos and macrophthalmos
0.002 0.998 0.000
Q74 Other congenital malformations of limb(s)
0.002 0.998 0.000
M77.91 Enthesopathy, unspecified (Shoulder region)
0.000 0.998 0.002
C67.9 Bladder, unspecified
0.002 0.998 0.000
M35.3 Polymyalgia rheumatica
0.002 0.998 0.000
Q61.3 Polycystic kidney, unspecified
0.002 0.998 0.000
Q16 Congenital malformations of ear causing impairment of hearing
0.002 0.998 0.000
Q13 Congenital malformations of anterior segment of eye
0.002 0.998 0.000
Q34 Other congenital malformations of respiratory system
0.002 0.998 0.000
Q33 Congenital malformations of lung
0.002 0.998 0.000
Q32 Congenital malformations of trachea and bronchus
0.002 0.998 0.000
Q31 Congenital malformations of larynx
0.002 0.998 0.000
Q30 Congenital malformations of nose
0.002 0.998 0.000
D28.0 Vulva
0.002 0.998 0.000
Q39.4 Oesophageal web
0.002 0.998 0.000
Q43.7 Persistent cloaca
0.002 0.998 0.000
Q43.6 Congenital fistula of rectum and anus
0.002 0.998 0.000
Q43.5 Ectopic anus
0.002 0.998 0.000
Q43.4 Duplication of intestine
0.002 0.998 0.000
Q43.2 Other congenital functional disorders of colon
0.002 0.998 0.000
R16.0 Hepatomegaly, not elsewhere classified
0.000 0.998 0.002
Q37 Cleft palate with cleft lip
0.002 0.998 0.000
Q36 Cleft lip
0.002 0.998 0.000
Q53.1 Undescended testicle, unilateral
0.002 0.998 0.000
Q79.6 Ehlers-Danlos syndrome
0.002 0.998 0.000
Q89 Other congenital malformations, not elsewhere classified
0.002 0.998 0.000
M80.10 Postoophorectomy osteoporosis with pathological fracture (Multiple sites)
0.000 0.998 0.002
Q35 Cleft palate
0.002 0.998 0.000
M80.97 Unspecified osteoporosis with pathological fracture (Ankle and foot)
0.000 0.998 0.002
M80.96 Unspecified osteoporosis with pathological fracture (Lower leg)
0.000 0.998 0.002
M80.94 Unspecified osteoporosis with pathological fracture (Hand)
0.000 0.998 0.002
M80.93 Unspecified osteoporosis with pathological fracture (Forearm)
0.000 0.998 0.002
M80.92 Unspecified osteoporosis with pathological fracture (Upper arm)
0.000 0.998 0.002
M80.91 Unspecified osteoporosis with pathological fracture (Shoulder region)
0.000 0.998 0.002
Q60.0 Renal agenesis, unilateral
0.002 0.998 0.000
Z89.6 Acquired absence of leg above knee
0.002 0.998 0.000
Q00-Q07 Congenital malformations of the nervous system
0.002 0.998 0.000
M72.2 Plantar fascial fibromatosis
0.000 0.998 0.002
Q67.8 Other congenital deformities of chest
0.001 0.998 0.000
Q67.7 Pectus carinatum
0.001 0.998 0.000
Q67.6 Pectus excavatum
0.001 0.998 0.000
Q67.4 Other congenital deformities of skull, face and jaw
0.001 0.998 0.000
Q67.3 Plagiocephaly
0.001 0.998 0.000
Q67.2 Dolichocephaly
0.001 0.998 0.000
Q67.1 Compression facies
0.001 0.998 0.000
Q67.0 Facial asymmetry
0.001 0.998 0.000
Q76.4 Other congenital malformations of spine, not associated with scoliosis
0.002 0.998 0.000
S11.9 Open wound of neck, part unspecified
0.002 0.998 0.000
Q44 Congenital malformations of gallbladder, bile ducts and liver
0.002 0.998 0.000
A49.3 Mycoplasma infection, unspecified
0.002 0.998 0.000
G31.2 Degeneration of nervous system due to alcohol
0.000 0.998 0.002
N83.8 Other noninflammatory disorders of ovary, Fallopian tube and broad ligament
0.002 0.998 0.000
Q89.0 Congenital malformations of spleen
0.002 0.998 0.000
Q10 Congenital malformations of eyelid, lachrymal apparatus and orbit
0.002 0.998 0.000
M19.17 Post-traumatic arthrosis of other joints (Ankle and foot)
0.000 0.998 0.002
N04.9 Unspecified
0.002 0.998 0.000
N39.8 Other specified disorders of urinary system
0.000 0.998 0.002
Q28.0 Arteriovenous malformation of precerebral vessels
0.002 0.998 0.000
Q39.9 Congenital malformation of oesophagus, unspecified
0.002 0.998 0.000
Q39.8 Other congenital malformations of oesophagus
0.002 0.998 0.000
Q39.5 Congenital dilatation of oesophagus
0.002 0.998 0.000
Q39.3 Congenital stenosis and stricture of oesophagus
0.002 0.998 0.000
Q39.2 Congenital tracheooesophageal fistula without atresia
0.002 0.998 0.000
Q39.1 Atresia of oesophagus with tracheooesophageal fistula
0.002 0.998 0.000
Q39.0 Atresia of oesophagus without fistula
0.002 0.998 0.000
Q45.3 Other congenital malformations of pancreas and pancreatic duct
0.002 0.998 0.000
S92.5 Fracture of other toe
0.002 0.998 0.000
Q15 Other congenital malformations of eye
0.001 0.998 0.000
Q80-Q89 Other congenital malformations
0.002 0.998 0.000
S92.51 Fracture of other toe (open)
0.002 0.998 0.000
I08.9 Multiple valve disease, unspecified
0.000 0.998 0.002
Q17 Other congenital malformations of ear
0.001 0.998 0.000
S19 Other and unspecified injuries of neck
0.002 0.998 0.000
Q39.6 Diverticulum of oesophagus
0.002 0.998 0.000
Q40.3 Congenital malformation of stomach, unspecified
0.001 0.998 0.000
Q89.3 Situs inversus
0.002 0.998 0.000
Q91.7 Patau's syndrome, unspecified
0.001 0.998 0.000
Q91.6 Trisomy 13, translocation
0.001 0.998 0.000
Q91.5 Trisomy 13, mosaicism (mitotic nondisjunction)
0.001 0.998 0.000
Q91.4 Trisomy 13, meiotic nondisjunction
0.001 0.998 0.000
Q91.3 Edwards' syndrome, unspecified
0.001 0.998 0.000
Q91.2 Trisomy 18, translocation
0.001 0.998 0.000
Q91.1 Trisomy 18, mosaicism (mitotic nondisjunction)
0.001 0.998 0.000
Q91.0 Trisomy 18, meiotic nondisjunction
0.001 0.998 0.000
Q92.9 Trisomy and partial trisomy of autosomes, unspecified
0.001 0.998 0.000
Q92.8 Other specified trisomies and partial trisomies of autosomes
0.001 0.998 0.000
Q92.7 Triploidy and polyploidy
0.001 0.998 0.000
Q92.6 Extra marker chromosomes
0.001 0.998 0.000
Q92.5 Duplications with other complex rearrangements
0.001 0.998 0.000
Q92.4 Duplications seen only at prometaphase
0.001 0.998 0.000
Q92.3 Minor partial trisomy
0.001 0.998 0.000
Q92.2 Major partial trisomy
0.001 0.998 0.000
Q92.1 Whole chromosome trisomy, mosaicism (mitotic nondisjunction)
0.001 0.998 0.000
Q92.0 Whole chromosome trisomy, meiotic nondisjunction
0.001 0.998 0.000
Q93.9 Deletion from autosomes, unspecified
0.001 0.998 0.000
Q93.8 Other deletions from the autosomes
0.001 0.998 0.000
Q93.7 Deletions with other complex rearrangements
0.001 0.998 0.000
Q93.6 Deletions seen only at prometaphase
0.001 0.998 0.000
Q93.5 Other deletions of part of a chromosome
0.001 0.998 0.000
Q93.4 Deletion of short arm of chromosome 5
0.001 0.998 0.000
Q93.3 Deletion of short arm of chromosome 4
0.001 0.998 0.000
Q93.2 Chromosome replaced with ring or dicentric
0.001 0.998 0.000
Q93.1 Whole chromosome monosomy, mosaicism (mitotic nondisjunction)
0.001 0.998 0.000
Q93.0 Whole chromosome monosomy, meiotic nondisjunction
0.001 0.998 0.000
Q95.9 Balanced rearrangement and structural marker, unspecified
0.001 0.998 0.000
Q95.8 Other balanced rearrangements and structural markers
0.001 0.998 0.000
Q95.5 Individuals with autosomal fragile site
0.001 0.998 0.000
Q95.4 Individuals with marker heterochromatin
0.001 0.998 0.000
Q95.3 Balanced sex/autosomal rearrangement in abnormal individual
0.001 0.998 0.000
Q95.2 Balanced autosomal rearrangement in abnormal individual
0.001 0.998 0.000
Q95.1 Chromosome inversion in normal individual
0.001 0.998 0.000
Q95.0 Balanced translocation and insertion in normal individual
0.001 0.998 0.000
Q97.9 Sex chromosome abnormality, female phenotype, unspecified
0.001 0.998 0.000
Q97.8 Other specified sex chromosome abnormalities, female phenotype
0.001 0.998 0.000
Q97.3 Female with 46,XY karyotype
0.001 0.998 0.000
Q97.2 Mosaicism, lines with various numbers of X chromosomes
0.001 0.998 0.000
Q97.1 Female with more than three X chromosomes
0.001 0.998 0.000

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

The full results table can be downloaded from this page.