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Variant clusters
Hospitalization Episode Statistics (HES)
Genetic variants: 36,212
Diagnostic terms: × 19,155
Association results: = 693,640,860
Self-Reported Statistics (SRS)
Genetic variants: 28,458
Diagnostic terms: × 474
Association results: = 13,489,092
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Variant-specific associations

rs1483121
log Bayes Factor = 0.00326408
Chromosome 11   position 48,333,360  (GRCh37) Explore rs1483121 on Ensembl!
Variant rs1483121 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
  
C83 Diffuse non-Hodgkin's lymphoma
0.000 0.907 0.093
C83.3 Large cell (diffuse)
0.000 0.907 0.093
C83.0 Small cell (diffuse)
0.000 0.909 0.091
C85.1 B-cell lymphoma, unspecified
0.000 0.918 0.082
C85 Other and unspecified types of non-Hodgkin's lymphoma
0.000 0.919 0.081
C81-C96 Malignant neoplasms, stated or presumed to be primary, of lymphoid, haematopoietic and related tissue
0.000 0.922 0.078
C83.1 Small cleaved cell (diffuse)
0.000 0.924 0.076
C81 Hodgkin's disease
0.000 0.932 0.068
C83.8 Other types of diffuse non-Hodgkin's lymphoma
0.000 0.932 0.068
C83.6 Undifferentiated (diffuse)
0.000 0.933 0.067
C83.5 Lymphoblastic (diffuse)
0.000 0.933 0.067
C83.4 Immunoblastic (diffuse)
0.000 0.933 0.067
C83.2 Mixed small and large cell (diffuse)
0.000 0.933 0.067
C85.9 Non-Hodgkin's lymphoma, unspecified type
0.000 0.936 0.064
C85.7 Other specified types of non-Hodgkin's lymphoma
0.000 0.936 0.064
C83.7 Burkitt's tumour
0.000 0.937 0.063
C81.9 Hodgkin's disease, unspecified
0.000 0.939 0.061
C83.9 Diffuse non-Hodgkin's lymphoma, unspecified
0.000 0.939 0.061
C88 Malignant immunoproliferative diseases
0.000 0.939 0.061
C85.2 Mediastinal (thymic) large B-cell lymphoma
0.000 0.942 0.058
C85.0 Lymphosarcoma
0.000 0.942 0.058
C95 Leukaemia of unspecified cell type
0.000 0.943 0.057
C96 Other and unspecified malignant neoplasms of lymphoid, haematopoietic and related tissue
0.000 0.944 0.056
C94 Other leukaemias of specified cell type
0.000 0.944 0.056
C86 Other specified types of T/NK-cell lymphoma
0.000 0.944 0.056
C90 Multiple myeloma and malignant plasma cell neoplasms
0.000 0.944 0.056
C93 Monocytic leukaemia
0.000 0.945 0.055
C84 Peripheral and cutaneous T-cell lymphomas
0.000 0.946 0.054
C81.1 Nodular sclerosis
0.000 0.949 0.050
C81.7 Other Hodgkin's disease
0.000 0.951 0.049
C81.4 Lymphocyte-rich classical Hodgkin lymphoma
0.000 0.951 0.049
C81.3 Lymphocytic depletion
0.000 0.951 0.049
C81.2 Mixed cellularity
0.000 0.951 0.049
C81.0 Lymphocytic predominance
0.000 0.951 0.049
Z98.0 Intestinal bypass and anastomosis status
0.000 0.952 0.048
C88.0 Waldenstrom's macroglobulinaemia
0.000 0.952 0.048
C88.9 Malignant immunoproliferative disease, unspecified
0.000 0.956 0.044
C88.7 Other malignant immunoproliferative diseases
0.000 0.956 0.044
C88.4 Extranodal marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue [MALT-lymphoma]
0.000 0.956 0.044
C88.3 Immunoproliferative small intestinal disease
0.000 0.956 0.044
C88.2 Gamma heavy chain disease
0.000 0.956 0.044
C88.1 Alpha heavy chain disease
0.000 0.956 0.044
C90.2 Plasmacytoma, extramedullary
0.000 0.956 0.043
C95.9 Leukaemia, unspecified
0.000 0.958 0.042
C91 Lymphoid leukaemia
0.000 0.958 0.042
C95.7 Other leukaemia of unspecified cell type
0.000 0.959 0.041
C95.2 Subacute leukaemia of unspecified cell type
0.000 0.959 0.041
C95.1 Chronic leukaemia of unspecified cell type
0.000 0.959 0.041
C95.0 Acute leukaemia of unspecified cell type
0.000 0.959 0.041
C92 Myeloid leukaemia
0.000 0.959 0.041
C86.6 Primary cutaneous CD30-positive T-cell proliferations
0.000 0.959 0.040
C86.5 Angioimmunoblastic T-cell lymphoma
0.000 0.959 0.040
C86.4 Blastic NK-cell lymphoma
0.000 0.959 0.040
C86.3 Subcutaneous panniculitis-like T-cell lymphoma
0.000 0.959 0.040
C86.2 Enteropathy-type (intestinal) T-cell lymphoma
0.000 0.959 0.040
C86.1 Hepatosplenic T-cell lymphoma
0.000 0.959 0.040
C86.0 Extranodal NK/T-cell lymphoma, nasal type
0.000 0.959 0.040
C94.7 Other specified leukaemias
0.000 0.959 0.040
C94.6 Myelodysplastic and myeloproliferative disease, not elsewhere classified
0.000 0.959 0.040
C94.5 Acute myelofibrosis
0.000 0.959 0.040
C94.4 Acute panmyelosis
0.000 0.959 0.040
C94.3 Mast cell leukaemia
0.000 0.959 0.040
C94.2 Acute megakaryoblastic leukaemia
0.000 0.959 0.040
C94.1 Chronic erythraemia
0.000 0.959 0.040
C94.0 Acute erythraemia and erythroleukaemia
0.000 0.959 0.040
C96.9 Malignant neoplasms of lymphoid, haematopoietic and related tissue, unspecified
0.000 0.959 0.040
C96.8 Histiocytic sarcoma
0.000 0.959 0.040
C96.7 Other specified malignant neoplasms of lymphoid, haematopoietic and related tissue
0.000 0.959 0.040
C96.6 Unifocal Langerhans-cell histiocytosis
0.000 0.959 0.040
C96.5 Multifocal and unisystemic Langerhans-cell histiocytosis
0.000 0.959 0.040
C96.4 Sarcoma of dendritic cells (accessory cells)
0.000 0.959 0.040
C96.3 True histiocytic lymphoma
0.000 0.959 0.040
C96.2 Malignant mast cell tumour
0.000 0.959 0.040
C96.1 Malignant histiocytosis
0.000 0.959 0.040
C96.0 Letterer-Siwe disease
0.000 0.959 0.040
C90.3 Solitary plasmacytoma
0.000 0.960 0.040
C90.1 Plasma cell leukaemia
0.000 0.960 0.040
C84.4 Peripheral T-cell lymphoma
0.000 0.960 0.040
C93.9 Monocytic leukaemia, unspecified
0.000 0.960 0.039
C93.7 Other monocytic leukaemia
0.000 0.960 0.039
C93.3 Juvenile myelomonocytic leukaemia
0.000 0.960 0.039
C93.2 Subacute monocytic leukaemia
0.000 0.960 0.039
C93.0 Acute monocytic leukaemia
0.000 0.960 0.039
C84.9 Mature T/NK-cell lymphoma, unspecified
0.000 0.961 0.039
C84.8 Cutaneous T-cell lymphoma, unspecified
0.000 0.961 0.039
C84.7 Anaplastic large cell lymphoma, ALK-negative
0.000 0.961 0.039
C84.6 Anaplastic large cell lymphoma, ALK-positive
0.000 0.961 0.039
C84.3 Lymphoepithelioid lymphoma
0.000 0.961 0.039
C84.2 T-zone lymphoma
0.000 0.961 0.039
C84.1 Sezary's diease
0.000 0.961 0.039
C84.0 Mycosis fungoides
0.000 0.961 0.039
C93.1 Chronic monocytic leukaemia
0.000 0.962 0.038
C84.5 Other and unspecified T-cell lymphomas
0.000 0.965 0.035
C90.0 Multiple myeloma
0.000 0.965 0.035
C91.4 Hairy-cell leukaemia
0.000 0.967 0.033
C91.8 Mature B-cell leukaemia Burkitt-type
0.000 0.970 0.030
C91.7 Other lymphoid leukaemia
0.000 0.970 0.030
C91.6 Prolymphocytic leukaemia of T-cell type
0.000 0.970 0.030
C91.5 Adult T-cell leukaemia
0.000 0.970 0.030
C91.3 Prolymphocytic leukaemia
0.000 0.970 0.030
C91.2 Subacute lymphocytic leukaemia
0.000 0.970 0.030
C92.9 Myeloid leukaemia, unspecified
0.000 0.971 0.029
C92.8 Acute myeloid leukaemia with multilineage dysplasia
0.000 0.971 0.029
C92.7 Other myeloid leukaemia
0.000 0.971 0.029
C92.6 Acute myeloid leukaemia with 11q23-abnormality
0.000 0.971 0.029
C92.5 Acute myelomonocytic leukaemia
0.000 0.971 0.029
C92.3 Myeloid sarcoma
0.000 0.971 0.029
C92.2 Subacute myeloid leukaemia
0.000 0.971 0.029
C82 Follicular [nodular] non-Hodgkin's lymphoma
0.000 0.971 0.028
C91.0 Acute lymphoblastic leukaemia
0.000 0.972 0.028
C91.9 Lymphoid leukaemia, unspecified
0.000 0.973 0.027
C92.4 Acute promyelocytic leukaemia
0.000 0.973 0.027
C92.1 Chronic myeloid leukaemia
0.000 0.974 0.026
C92.0 Acute myeloid leukaemia
0.000 0.976 0.024
Q38-Q45 Other congenital malformations of the digestive system
0.021 0.979 0.000
C82.7 Other types of follicular non-Hodgkin's lymphoma
0.000 0.979 0.021
Q38.7 Pharyngeal pouch
0.021 0.979 0.000
C82.2 Large cell, follicular
0.000 0.979 0.021
Q38 Other congenital malformations of tongue, mouth and pharynx
0.021 0.979 0.000
Q43 Other congenital malformations of intestine
0.021 0.979 0.000
C82.6 Cutaneous follicle centre lymphoma
0.000 0.979 0.021
C82.5 Diffuse follicle centre lymphoma
0.000 0.979 0.021
C82.4 Follicular lymphoma grade IIIb
0.000 0.979 0.021
C91.1 Chronic lymphocytic leukaemia
0.000 0.980 0.020
Chapter XVII Congenital malformations, deformations and chromosomal abnormalities
0.019 0.981 0.000
Q43.3 Congenital malformations of intestinal fixation
0.019 0.981 0.000
C82.0 Small cleaved cell, follicular
0.000 0.981 0.019
Q87 Other specified congenital malformation syndromes affecting multiple systems
0.019 0.981 0.000
Q80-Q89 Other congenital malformations
0.019 0.981 0.000
Q87.4 Marfan's syndrome
0.019 0.981 0.000
C82.1 Mixed small cleaved and large cell, follicular
0.000 0.981 0.018
Q43.0 Meckel's diverticulum
0.018 0.982 0.000
Q60-Q64 Congenital malformations of the urinary system
0.017 0.983 0.000
Q43.9 Congenital malformation of intestine, unspecified
0.017 0.983 0.000
Q61 Cystic kidney disease
0.016 0.983 0.000
Q90-Q99 Chromosomal abnormalities, not elsewhere classified
0.016 0.984 0.000
Q40 Other congenital malformations of upper alimentary tract
0.016 0.984 0.000
Q45 Other congenital malformations of digestive system
0.016 0.984 0.000
Q42 Congenital absence, atresia and stenosis of large intestine
0.016 0.984 0.000
Q41 Congenital absence, atresia and stenosis of small intestine
0.016 0.984 0.000
Q35-Q37 Cleft lip and cleft palate
0.015 0.984 0.000
Q44 Congenital malformations of gallbladder, bile ducts and liver
0.015 0.985 0.000
Q38.8 Other congenital malformations of pharynx
0.015 0.985 0.000
Q38.6 Other congenital malformations of mouth
0.015 0.985 0.000
Q38.5 Congenital malformations of palate, not elsewhere classified
0.015 0.985 0.000
Q38.4 Congenital malformations of salivary glands and ducts
0.015 0.985 0.000
Q38.3 Other congenital malformations of tongue
0.015 0.985 0.000
Q38.2 Macroglossia
0.015 0.985 0.000
Q38.1 Ankyloglossia
0.015 0.985 0.000
Q38.0 Congenital malformations of lips, not elsewhere classified
0.015 0.985 0.000
Q43.7 Persistent cloaca
0.015 0.985 0.000
Q43.6 Congenital fistula of rectum and anus
0.015 0.985 0.000
Q43.5 Ectopic anus
0.015 0.985 0.000
Q43.4 Duplication of intestine
0.015 0.985 0.000
Q43.2 Other congenital functional disorders of colon
0.015 0.985 0.000
Q43.1 Hirschsprung's disease
0.015 0.985 0.000
Q87.8 Other specified congenital malformation syndromes, not elsewhere classified
0.015 0.985 0.000
Q89 Other congenital malformations, not elsewhere classified
0.015 0.985 0.000
Q10-Q18 Congenital malformations of eye, ear, face and neck
0.015 0.985 0.000
Q65-Q79 Congenital malformations and deformations of the musculoskeletal system
0.015 0.985 0.000
Q39 Congenital malformations of oesophagus
0.015 0.985 0.000
Q61.2 Polycystic kidney, adult type
0.015 0.985 0.000
C82.3 Follicular lymphoma grade IIIa
0.001 0.985 0.014
Q30-Q34 Congenital malformations of the respiratory system
0.014 0.986 0.000
Q85 Phakomatoses, not elsewhere classified
0.014 0.986 0.000
C82.9 Follicular non-Hodgkin's lymphoma, unspecified
0.000 0.986 0.014
Q61.3 Polycystic kidney, unspecified
0.014 0.986 0.000
Q87.5 Other congenital malformation syndromes with other skeletal changes
0.014 0.986 0.000
Q87.3 Congenital malformation syndromes involving early overgrowth
0.014 0.986 0.000
Q87.2 Congenital malformation syndromes predominantly involving limbs
0.014 0.986 0.000
Q87.1 Congenital malformation syndromes predominantly associated with short stature
0.014 0.986 0.000
Q87.0 Congenital malformation syndromes predominantly affecting facial appearance
0.014 0.986 0.000
Q86 Congenital malformation syndromes due to known exogenous causes, not elsewhere classified
0.014 0.986 0.000
Q84 Other congenital malformations of integument
0.014 0.986 0.000
Q81 Epidermolysis bullosa
0.014 0.986 0.000
Q80 Congenital ichthyosis
0.014 0.986 0.000
Q60 Renal agenesis and other reduction defects of kidney
0.014 0.986 0.000
Q00-Q07 Congenital malformations of the nervous system
0.013 0.987 0.000
Q83 Congenital malformations of breast
0.013 0.987 0.000
Q17 Other congenital malformations of ear
0.013 0.987 0.000
Q99 Other chromosome abnormalities, not elsewhere classified
0.013 0.987 0.000
Q98 Other sex chromosome abnormalities, male phenotype, not elsewhere classified
0.013 0.987 0.000
Q61.0 Congenital single renal cyst
0.013 0.987 0.000
Q62 Congenital obstructive defects of renal pelvis and congenital malformations of ureter
0.013 0.987 0.000
Q82 Other congenital malformations of skin
0.013 0.987 0.000
Q37 Cleft palate with cleft lip
0.013 0.987 0.000
Q61.9 Cystic kidney disease, unspecified
0.013 0.987 0.000
Q50-Q56 Congenital malformations of genital organs
0.013 0.987 0.000
N90.4 Leukoplakia of vulva
0.012 0.988 0.000
Q20-Q28 Congenital malformations of the circulatory system
0.012 0.988 0.000
Q89.2 Congenital malformations of other endocrine glands
0.012 0.988 0.000
Q64 Other congenital malformations of urinary system
0.012 0.988 0.000
Q43.8 Other specified congenital malformations of intestine
0.012 0.988 0.000
Q61.8 Other cystic kidney diseases
0.012 0.988 0.000
Q61.4 Renal dysplasia
0.012 0.988 0.000
Q61.1 Polycystic kidney, infantile type
0.012 0.988 0.000
Q17.5 Prominent ear
0.012 0.988 0.000
N90.9 Noninflammatory disorder of vulva and perineum, unspecified
0.012 0.988 0.000
Q97 Other sex chromosome abnormalities, female phenotype, not elsewhere classified
0.012 0.988 0.000
Q95 Balanced rearrangements and structural markers, not elsewhere classified
0.012 0.988 0.000
Q93 Monosomies and deletions from the autosomes, not elsewhere classified
0.012 0.988 0.000
Q92 Other trisomies and partial trisomies of the autosomes, not elsewhere classified
0.012 0.988 0.000
Q91 Edwards' syndrome and Patau's syndrome
0.012 0.988 0.000
Q90 Down's syndrome
0.012 0.988 0.000
N90 Other noninflammatory disorders of vulva and perineum
0.012 0.988 0.000
Q76 Congenital malformations of spine and bony thorax
0.012 0.988 0.000
Q96 Turner's syndrome
0.011 0.988 0.000
Q68 Other congenital musculoskeletal deformities
0.011 0.988 0.000
Q61.5 Medullary cystic kidney
0.011 0.988 0.000
Q40.2 Other specified congenital malformations of stomach
0.011 0.988 0.000
Q40.9 Congenital malformation of upper alimentary tract, unspecified
0.011 0.988 0.000
Q40.8 Other specified congenital malformations of upper alimentary tract
0.011 0.988 0.000
Q40.3 Congenital malformation of stomach, unspecified
0.011 0.988 0.000
Q40.1 Congenital hiatus hernia
0.011 0.988 0.000
Q40.0 Congenital hypertrophic pyloric stenosis
0.011 0.988 0.000
Q41.9 Congenital absence, atresia and stenosis of small intestine, part unspecified
0.011 0.988 0.000
Q41.8 Congenital absence, atresia and stenosis of other specified parts of small intestine
0.011 0.988 0.000
Q41.2 Congenital absence, atresia and stenosis of ileum
0.011 0.988 0.000
Q41.1 Congenital absence, atresia and stenosis of jejunum
0.011 0.988 0.000
Q41.0 Congenital absence, atresia and stenosis of duodenum
0.011 0.988 0.000
Q42.9 Congenital absence, atresia and stenosis of large intestine, part unspecified
0.011 0.988 0.000
Q42.8 Congenital absence, atresia and stenosis of other parts of large intestine
0.011 0.988 0.000
Q42.3 Congenital absence, atresia and stenosis of anus without fistula
0.011 0.988 0.000
Q42.2 Congenital absence, atresia and stenosis of anus with fistula
0.011 0.988 0.000
Q42.1 Congenital absence, atresia and stenosis of rectum without fistula
0.011 0.988 0.000
Q42.0 Congenital absence, atresia and stenosis of rectum with fistula
0.011 0.988 0.000
Q45.9 Congenital malformation of digestive system, unspecified
0.011 0.988 0.000
Q45.8 Other specified congenital malformations of digestive system
0.011 0.988 0.000
Q45.3 Other congenital malformations of pancreas and pancreatic duct
0.011 0.988 0.000
Q45.2 Congenital pancreatic cyst
0.011 0.988 0.000
Q45.1 Annular pancreas
0.011 0.988 0.000
Q45.0 Agenesis, aplasia and hypoplasia of pancreas
0.011 0.988 0.000
Q85.0 Neurofibromatosis (nonmalignant)
0.011 0.989 0.000
Q36 Cleft lip
0.011 0.989 0.000
Q35 Cleft palate
0.011 0.989 0.000
Q44.7 Other congenital malformations of liver
0.011 0.989 0.000
Q44.5 Other congenital malformations of bile ducts
0.011 0.989 0.000
Q44.4 Choledochal cyst
0.011 0.989 0.000
Q44.3 Congenital stenosis and stricture of bile ducts
0.011 0.989 0.000
Q44.2 Atresia of bile ducts
0.011 0.989 0.000
Q44.1 Other congenital malformations of gallbladder
0.011 0.989 0.000
Q44.0 Agenesis, aplasia and hypoplasia of gallbladder
0.011 0.989 0.000
Q67 Congenital musculoskeletal deformities of head, face, spine and chest
0.011 0.989 0.000
Q44.6 Cystic disease of liver
0.011 0.989 0.000
Q89.9 Congenital malformation, unspecified
0.011 0.989 0.000
Q89.8 Other specified congenital malformations
0.011 0.989 0.000
Q89.7 Multiple congenital malformations, not elsewhere classified
0.011 0.989 0.000
Q89.4 Conjoined twins
0.011 0.989 0.000
Q89.3 Situs inversus
0.011 0.989 0.000
Q89.1 Congenital malformations of adrenal gland
0.011 0.989 0.000
Q89.0 Congenital malformations of spleen
0.011 0.989 0.000
Q60.0 Renal agenesis, unilateral
0.011 0.989 0.000
Q66 Congenital deformities of feet
0.011 0.989 0.000
Q25 Congenital malformations of great arteries
0.011 0.989 0.000
Q16 Congenital malformations of ear causing impairment of hearing
0.011 0.989 0.000
Q15 Other congenital malformations of eye
0.011 0.989 0.000
Q14 Congenital malformations of posterior segment of eye
0.011 0.989 0.000
Q13 Congenital malformations of anterior segment of eye
0.011 0.989 0.000
Q11 Anophthalmos, microphthalmos and macrophthalmos
0.011 0.989 0.000
Q10 Congenital malformations of eyelid, lachrymal apparatus and orbit
0.011 0.989 0.000
Q78 Other osteochondrodysplasias
0.011 0.989 0.000
Q77 Osteochondrodysplasia with defects of growth of tubular bones and spine
0.011 0.989 0.000
Q75 Other congenital malformations of skull and face bones
0.011 0.989 0.000
Q74 Other congenital malformations of limb(s)
0.011 0.989 0.000
Q73 Reduction defects of unspecified limb
0.011 0.989 0.000
Q72 Reduction defects of lower limb
0.011 0.989 0.000
Q71 Reduction defects of upper limb
0.011 0.989 0.000
Q70 Syndactyly
0.011 0.989 0.000
Q69 Polydactyly
0.011 0.989 0.000
Q39.9 Congenital malformation of oesophagus, unspecified
0.011 0.989 0.000
Q39.8 Other congenital malformations of oesophagus
0.011 0.989 0.000
Q39.6 Diverticulum of oesophagus
0.011 0.989 0.000
Q39.5 Congenital dilatation of oesophagus
0.011 0.989 0.000
Q39.3 Congenital stenosis and stricture of oesophagus
0.011 0.989 0.000
Q39.2 Congenital tracheooesophageal fistula without atresia
0.011 0.989 0.000
Q39.1 Atresia of oesophagus with tracheooesophageal fistula
0.011 0.989 0.000
Q39.0 Atresia of oesophagus without fistula
0.011 0.989 0.000
Q04 Other congenital malformations of brain
0.011 0.989 0.000
Q37.9 Unspecified cleft palate with unilateral cleft lip
0.011 0.989 0.000
Q99.8 Other specified chromosome abnormalities
0.010 0.989 0.000
Q63 Other congenital malformations of kidney
0.010 0.989 0.000
Q98.4 Klinefelter's syndrome, unspecified
0.010 0.989 0.000
Q34 Other congenital malformations of respiratory system
0.010 0.990 0.000
Q33 Congenital malformations of lung
0.010 0.990 0.000
Q32 Congenital malformations of trachea and bronchus
0.010 0.990 0.000
Q31 Congenital malformations of larynx
0.010 0.990 0.000
Q30 Congenital malformations of nose
0.010 0.990 0.000
Q85.8 Other phakomatoses, not elsewhere classified
0.010 0.990 0.000
Q85.1 Tuberous sclerosis
0.010 0.990 0.000
Q82.2 Mastocytosis
0.010 0.990 0.000
Q79 Congenital malformations of musculoskeletal system, not elsewhere classified
0.010 0.990 0.000
N90.7 Vulvar cyst
0.010 0.990 0.000
Q27 Other congenital malformations of peripheral vascular system
0.010 0.990 0.000
Q80.9 Congenital ichthyosis, unspecified
0.010 0.990 0.000
Q80.8 Other congenital ichthyosis
0.010 0.990 0.000
Q80.4 Harlequin foetus
0.010 0.990 0.000
Q80.3 Congenital bullous ichthyosiform erythroderma
0.010 0.990 0.000
Q80.2 Lamellar ichthyosis
0.010 0.990 0.000
Q80.1 X-linked ichthyosis
0.010 0.990 0.000
Q80.0 Ichthyosis vulgaris
0.010 0.990 0.000
Q81.9 Epidermolysis bullosa, unspecified
0.010 0.990 0.000
Q81.8 Other epidermolysis bullosa
0.010 0.990 0.000
Q81.2 Epidermolysis bullosa dystrophica
0.010 0.990 0.000
Q81.1 Epidermolysis bullosa letalis
0.010 0.990 0.000
Q81.0 Epidermolysis bullosa simplex
0.010 0.990 0.000
Q84.9 Congenital malformation of integument, unspecified
0.010 0.990 0.000
Q84.8 Other specified congenital malformations of integument
0.010 0.990 0.000
Q84.6 Other congenital malformations of nails
0.010 0.990 0.000
Q84.5 Enlarged and hypertrophic nails
0.010 0.990 0.000
Q84.4 Congenital leukonychia
0.010 0.990 0.000
Q84.3 Anonychia
0.010 0.990 0.000
Q84.2 Other congenital malformations of hair
0.010 0.990 0.000
Q84.1 Congenital morphological disturbances of hair, not elsewhere classified
0.010 0.990 0.000
Q84.0 Congenital alopecia
0.010 0.990 0.000
Q86.8 Other congenital malformation syndromes due to known exogenous causes
0.010 0.990 0.000
Q86.2 Dysmorphism due to warfarin
0.010 0.990 0.000
Q86.1 Foetal hydantoin syndrome
0.010 0.990 0.000
Q86.0 Foetal alcohol syndrome (dysmorphic)
0.010 0.990 0.000
Q54 Hypospadias
0.010 0.990 0.000
Q60.6 Potter's syndrome
0.010 0.990 0.000
Q60.5 Renal hypoplasia, unspecified
0.010 0.990 0.000
Q60.4 Renal hypoplasia, bilateral
0.010 0.990 0.000
Q60.3 Renal hypoplasia, unilateral
0.010 0.990 0.000
Q60.1 Renal agenesis, bilateral
0.010 0.990 0.000
Q83.8 Other congenital malformations of breast
0.010 0.990 0.000
Q25.4 Other congenital malformations of aorta
0.010 0.990 0.000
Q60.2 Renal agenesis, unspecified
0.010 0.990 0.000
Q39.4 Oesophageal web
0.010 0.990 0.000
Q12 Congenital lens malformations
0.010 0.990 0.000
Q65 Congenital deformities of hip
0.010 0.990 0.000
Q06 Other congenital malformations of spinal cord
0.010 0.990 0.000
Q03 Congenital hydrocephalus
0.010 0.990 0.000
Q01 Encephalocele
0.010 0.990 0.000
Q00 Anencephaly and similar malformations
0.010 0.990 0.000
Q02 Microcephaly
0.010 0.990 0.000
Q83.9 Congenital malformation of breast, unspecified
0.009 0.990 0.000
Q83.3 Accessory nipple
0.009 0.990 0.000
Q83.2 Absent nipple
0.009 0.990 0.000
Q83.0 Congenital absence of breast with absent nipple
0.009 0.990 0.000
Q17.9 Congenital malformation of ear, unspecified
0.009 0.990 0.000
Q17.8 Other specified congenital malformations of ear
0.009 0.990 0.000
Q17.4 Misplaced ear
0.009 0.990 0.000
Q17.3 Other misshapen ear
0.009 0.990 0.000
Q17.2 Microtia
0.009 0.990 0.000
Q17.1 Macrotia
0.009 0.990 0.000
Q17.0 Accessory auricle
0.009 0.990 0.000
Q76.0 Spina bifida occulta
0.010 0.990 0.000
N90.6 Hypertrophy of vulva
0.009 0.990 0.000
Q99.9 Chromosomal abnormality, unspecified
0.009 0.990 0.000
Q99.2 Fragile X chromosome
0.009 0.990 0.000
Q99.1 46,XX true hermaphrodite
0.009 0.990 0.000
Q99.0 Chimera 46,XX/46,XY
0.009 0.990 0.000
Q82.5 Congenital nonneoplastic naevus
0.009 0.990 0.000
Q98.9 Sex chromosome abnormality, male phenotype, unspecified
0.009 0.991 0.000
Q98.8 Other specified sex chromosome abnormalities, male phenotype
0.009 0.991 0.000
Q98.7 Male with sex chromosome mosaicism
0.009 0.991 0.000
Q98.6 Male with structurally abnormal sex chromosome
0.009 0.991 0.000
Q98.5 Karyotype 47,XYY
0.009 0.991 0.000
Q98.3 Other male with 46,XX karyotype
0.009 0.991 0.000
Q98.2 Klinefelter's syndrome, male with 46,XX karyotype
0.009 0.991 0.000
Q98.1 Klinefelter's syndrome, male with more than two X chromosomes
0.009 0.991 0.000
Q98.0 Klinefelter's syndrome karyotype 47,XXY
0.009 0.991 0.000
Q24 Other congenital malformations of heart
0.009 0.991 0.000
N90.3 Dysplasia of vulva, unspecified
0.009 0.991 0.000
Q62.8 Other congenital malformations of ureter
0.009 0.991 0.000
Q62.7 Congenital vesico-uretero-renal reflux
0.009 0.991 0.000
Q62.6 Malposition of ureter
0.009 0.991 0.000
Q62.5 Duplication of ureter
0.009 0.991 0.000
Q62.4 Agenesis of ureter
0.009 0.991 0.000
Q62.3 Other obstructive defects of renal pelvis and ureter
0.009 0.991 0.000
Q62.2 Congenital megaloureter
0.009 0.991 0.000
Q62.1 Atresia and stenosis of ureter
0.009 0.991 0.000
Q62.0 Congenital hydronephrosis
0.009 0.991 0.000
Q37.8 Unspecified cleft palate with bilateral cleft lip
0.009 0.991 0.000
Q37.5 Cleft hard and soft palate with unilateral cleft lip
0.009 0.991 0.000
Q37.4 Cleft hard and soft palate with bilateral cleft lip
0.009 0.991 0.000
Q37.3 Cleft soft palate with unilateral cleft lip
0.009 0.991 0.000
Q37.2 Cleft soft palate with bilateral cleft lip
0.009 0.991 0.000
Q37.1 Cleft hard palate with unilateral cleft lip
0.009 0.991 0.000
Q37.0 Cleft hard palate with bilateral cleft lip
0.009 0.991 0.000
Q82.9 Congenital malformation of skin, unspecified
0.009 0.991 0.000
Q82.4 Ectodermal dysplasia (anhidrotic)
0.009 0.991 0.000
Q82.3 Incontinentia pigmenti
0.009 0.991 0.000
Q82.1 Xeroderma pigmentosum
0.009 0.991 0.000
Q82.0 Hereditary lymphoedema
0.009 0.991 0.000
N90.8 Other specified noninflammatory disorders of vulva and perineum
0.009 0.991 0.000
Q56 Indeterminate sex and pseudohermaphroditism
0.009 0.991 0.000
Q55 Other congenital malformations of male genital organs
0.009 0.991 0.000
Q52 Other congenital malformations of female genitalia
0.009 0.991 0.000
Q85.9 Phakomatosis, unspecified
0.009 0.991 0.000
Q68.8 Other specified congenital musculoskeletal deformities
0.009 0.991 0.000
Q18 Other congenital malformations of face and neck
0.009 0.991 0.000
Q07 Other congenital malformations of nervous system
0.009 0.991 0.000
Q51 Congenital malformations of uterus and cervix
0.009 0.991 0.000
Q26 Congenital malformations of great veins
0.009 0.991 0.000
Q22 Congenital malformations of pulmonary and tricuspid valves
0.009 0.991 0.000
Q20 Congenital malformations of cardiac chambers and connexions
0.009 0.991 0.000
Q04.6 Congenital cerebral cysts
0.009 0.991 0.000
Q64.9 Congenital malformation of urinary system, unspecified
0.009 0.991 0.000
Q64.8 Other specified congenital malformations of urinary system
0.009 0.991 0.000
Q64.7 Other congenital malformations of bladder and urethra
0.009 0.991 0.000
Q64.6 Congenital diverticulum of bladder
0.009 0.991 0.000
Q64.5 Congenital absence of bladder and urethra
0.009 0.991 0.000
Q64.4 Malformation of urachus
0.009 0.991 0.000
Q64.2 Congenital posterior urethral valves
0.009 0.991 0.000
Q64.1 Exstrophy of urinary bladder
0.009 0.991 0.000
Q64.0 Epispadias
0.009 0.991 0.000
Q66.6 Other congenital valgus deformities of feet
0.009 0.991 0.000
Q27.9 Congenital malformation of peripheral vascular system, unspecified
0.009 0.991 0.000
Q90.9 Down's syndrome, unspecified
0.008 0.991 0.000
Q90.2 Trisomy 21, translocation
0.008 0.991 0.000
Q90.1 Trisomy 21, mosaicism (mitotic nondisjunction)
0.008 0.991 0.000
Q90.0 Trisomy 21, meiotic nondisjunction
0.008 0.991 0.000
Q91.7 Patau's syndrome, unspecified
0.008 0.991 0.000
Q91.6 Trisomy 13, translocation
0.008 0.991 0.000
Q91.5 Trisomy 13, mosaicism (mitotic nondisjunction)
0.008 0.991 0.000
Q91.4 Trisomy 13, meiotic nondisjunction
0.008 0.991 0.000
Q91.3 Edwards' syndrome, unspecified
0.008 0.991 0.000
Q91.2 Trisomy 18, translocation
0.008 0.991 0.000
Q91.1 Trisomy 18, mosaicism (mitotic nondisjunction)
0.008 0.991 0.000
Q91.0 Trisomy 18, meiotic nondisjunction
0.008 0.991 0.000
Q92.9 Trisomy and partial trisomy of autosomes, unspecified
0.008 0.991 0.000
Q92.8 Other specified trisomies and partial trisomies of autosomes
0.008 0.991 0.000
Q92.7 Triploidy and polyploidy
0.008 0.991 0.000
Q92.6 Extra marker chromosomes
0.008 0.991 0.000
Q92.5 Duplications with other complex rearrangements
0.008 0.991 0.000
Q92.4 Duplications seen only at prometaphase
0.008 0.991 0.000
Q92.3 Minor partial trisomy
0.008 0.991 0.000
Q92.2 Major partial trisomy
0.008 0.991 0.000
Q92.1 Whole chromosome trisomy, mosaicism (mitotic nondisjunction)
0.008 0.991 0.000
Q92.0 Whole chromosome trisomy, meiotic nondisjunction
0.008 0.991 0.000
Q93.9 Deletion from autosomes, unspecified
0.008 0.991 0.000
Q93.8 Other deletions from the autosomes
0.008 0.991 0.000
Q93.7 Deletions with other complex rearrangements
0.008 0.991 0.000
Q93.6 Deletions seen only at prometaphase
0.008 0.991 0.000
Q93.5 Other deletions of part of a chromosome
0.008 0.991 0.000
Q93.4 Deletion of short arm of chromosome 5
0.008 0.991 0.000
Q93.3 Deletion of short arm of chromosome 4
0.008 0.991 0.000
Q93.2 Chromosome replaced with ring or dicentric
0.008 0.991 0.000
Q93.1 Whole chromosome monosomy, mosaicism (mitotic nondisjunction)
0.008 0.991 0.000
Q93.0 Whole chromosome monosomy, meiotic nondisjunction
0.008 0.991 0.000
Q95.9 Balanced rearrangement and structural marker, unspecified
0.008 0.991 0.000
Q95.8 Other balanced rearrangements and structural markers
0.008 0.991 0.000
Q95.5 Individuals with autosomal fragile site
0.008 0.991 0.000
Q95.4 Individuals with marker heterochromatin
0.008 0.991 0.000
Q95.3 Balanced sex/autosomal rearrangement in abnormal individual
0.008 0.991 0.000
Q95.2 Balanced autosomal rearrangement in abnormal individual
0.008 0.991 0.000
Q95.1 Chromosome inversion in normal individual
0.008 0.991 0.000
Q95.0 Balanced translocation and insertion in normal individual
0.008 0.991 0.000
Q97.9 Sex chromosome abnormality, female phenotype, unspecified
0.008 0.991 0.000
Q97.8 Other specified sex chromosome abnormalities, female phenotype
0.008 0.991 0.000
Q97.3 Female with 46,XY karyotype
0.008 0.991 0.000
Q97.2 Mosaicism, lines with various numbers of X chromosomes
0.008 0.991 0.000
Q97.1 Female with more than three X chromosomes
0.008 0.991 0.000
Q97.0 Karyotype 47,XXX
0.008 0.991 0.000
Q83.1 Accessory breast
0.008 0.991 0.000
Q66.7 Pes cavus
0.009 0.991 0.000
N90.2 Severe vulvar dysplasia, not elsewhere classified
0.009 0.991 0.000
N90.1 Moderate vulvar dysplasia
0.009 0.991 0.000
N90.0 Mild vulvar dysplasia
0.009 0.991 0.000
Q76.9 Congenital malformation of bony thorax, unspecified
0.008 0.991 0.000
Q76.8 Other congenital malformations of bony thorax
0.008 0.991 0.000
Q76.7 Congenital malformation of sternum
0.008 0.991 0.000
Q76.6 Other congenital malformations of ribs
0.008 0.991 0.000
Q76.5 Cervical rib
0.008 0.991 0.000
Q76.3 Congenital scoliosis due to congenital bony malformation
0.008 0.991 0.000
Q76.2 Congenital spondylolisthesis
0.008 0.991 0.000
Q76.1 Klippel-Feil syndrome
0.008 0.991 0.000
Q96.8 Other variants of Turner's syndrome
0.008 0.991 0.000
Q96.4 Mosaicism, 45,X/other cell line(s) with abnormal sex chromosome
0.008 0.991 0.000
Q96.3 Mosaicism, 45,X/46,XX or XY
0.008 0.991 0.000
Q96.2 Karyotype 46,X with abnormal sex chromosome, except iso (Xq)
0.008 0.991 0.000
Q96.1 Karyotype 46,X iso (Xq)
0.008 0.991 0.000
Q96.0 Karyotype 45,X
0.008 0.991 0.000
Q68.5 Congenital bowing of long bones of leg, unspecified
0.008 0.991 0.000
Q68.4 Congenital bowing of tibia and fibula
0.008 0.991 0.000
Q68.3 Congenital bowing of femur
0.008 0.991 0.000
Q68.2 Congenital deformity of knee
0.008 0.991 0.000
Q68.1 Congenital deformity of hand
0.008 0.991 0.000
Q68.0 Congenital deformity of sternocleidomastoid muscle
0.008 0.991 0.000
Q64.3 Other atresia and stenosis of urethra and bladder neck
0.008 0.991 0.000
Q67.5 Congenital deformity of spine
0.008 0.991 0.000
Q53 Undescended testicle
0.008 0.992 0.000
Q35.9 Cleft palate, unspecified
0.008 0.992 0.000
Q35.8 (Cleft palate, unspecified, bilateral)
0.008 0.992 0.000
Q35.7 Cleft uvula
0.008 0.992 0.000
Q35.6 Cleft palate, medial
0.008 0.992 0.000
Q35.5 Cleft hard palate with cleft soft palate
0.008 0.992 0.000
Q35.4 (Cleft hard palate with cleft soft palate, bilateral)
0.008 0.992 0.000
Q35.3 Cleft soft palate
0.008 0.992 0.000
Q35.2 (Cleft soft palate, bilateral)
0.008 0.992 0.000
Q35.1 Cleft hard palate
0.008 0.992 0.000
Q35.0 (Cleft hard palate, bilateral)
0.008 0.992 0.000
Q36.9 Cleft lip, unilateral
0.008 0.992 0.000
Q36.1 Cleft lip, medial
0.008 0.992 0.000
Q36.0 Cleft lip, bilateral
0.008 0.992 0.000
Q54.0 Hypospadias, balanic
0.008 0.992 0.000
Q28 Other congenital malformations of circulatory system
0.008 0.992 0.000
Q96.9 Turner's syndrome, unspecified
0.008 0.992 0.000
Q67.8 Other congenital deformities of chest
0.008 0.992 0.000

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

The full results table can be downloaded from this page.

 

The TreeWAS Database is the result of research conducted at the Oxford Big Data Institute at the University of Oxford.

This research has been conducted using the UK Biobank Resource (application number 10625). This work uses data provided by patients and collected by the NHS as part of their care and support.

This research has been conducted with the support of the Wellcome Trust (100956/Z/13/Z and 090532/Z/09/Z and 100308/Z/12/Z), the Danish National Research Foundation, Takeda, the Medical Research Council (MC_UU_12010/3), the Oak Foundation (OCAY-15-520), the National Institute for Health Research (NIHR) Oxford Biomedical Research Centre (BRC), the Wellcome Trust/Royal Society (204290/Z/16/Z) and the Li Ka Shing Foundation.

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