This is a non-core endpoint: only basic statistics are computed.
See these related core endpoints for full statistics:
Other congenital malformations of posterior segment of eye (coloboma)
Q17_CONGEN_MALFO_OTHERPOSTER
No definition available.
Endpoint definition
↥
Endpoint definition steps |
FinnGen |
|---|---|
Phenotype data |
520210 |
1. Apply sex-specific ruleNone |
520210 |
2. Check conditionsNone |
520210 |
3. Check pre-conditions, main-only, mode, registry filtersRegistry filters: 2 out of 7 registries used, show all original rules. |
33 |
4. Check minimum number of eventsNone |
33 |
5. Include endpointsNone |
33 |
6. Filter based on genotype QC (FinnGen only) |
33 |
Control definitions (FinnGen only)
- Control exclude
- Q17_CONGEN_MALFO_EYE_EAR_FACE_NECK
Extra metadata
- Level in the ICD hierarchy
- 4
- First used in FinnGen datafreeze
- DF6v3
Similar endpoints
↥List of similar endpoints to
Other congenital malformations of posterior segment of eye (coloboma)
based on the number of shared cases.
Similar with more cases:
- Congenital malformations of posterior segment of eye
- Congenital malformations of eye, ear, face and neck
- Congenital malformations, deformations and chromosomal abnormalities
- Any event in hilmo or specialist outpatient
- Any prescribed medicine buy
Similar with less cases:
None
Case counts by codes
↥
Summary Statistics
↥-FinRegistry-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | |||
| Whole population | 638 | 342 | 295 |
| Only index persons | 516 | 282 | 234 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.01 | 0.01 | 0.01 |
| Only index persons | 0.01 | 0.01 | 0.01 |
| Median age at first event (years) | |||
| Whole population | 9.01 | 8.91 | 8.97 |
| Only index persons | 16.04 | 17.08 | 14.78 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 33 | 18 | 15 |
| Unadjusted period prevalence (%) | 0.01 | 0.01 | 0.01 |
| Median age at first event (years) | 38.27 | 44.39 | 30.92 |
-FinRegistry-
Age distribution of first events
-FinnGen-
Age distribution of first events
-FinRegistry-
Year distribution of first events
-FinnGen-
Year distribution of first events
-FinRegistry-
Cumulative Incidence Function
-FinnGen-
Cumulative Incidence Function
Not a core endpoint, no data to show.
CodeWAS (R11)
↥CodeWAS is a tool for exploring the associations between an endpoint and all of the medical codes and drug codes.
This is a new tool, please reach out using the contact form for feedback and improvement ideas.
First, a cohort is built by matching controls to the endpoint cases using year of birth and sex. Then, a Fisher test is done for all the medical codes and drug codes between the cases and controls of this cohort. Codes are reported in the table below if they have −log10(p-value) ≥ 6.
No data available
LabWAS
↥OMOP Concept
People with measurements
Mean N measurements
Mean measured value
(ID) Name
N Cases
N Controls
OR
-log10(p)
cases
controls
unit
cases
controls
-log10(p)
N cases
N controls
(40771025) 25-Hydroxyvitamin D3+25-Hydroxyvitamin D2 [Moles/volume] in Serum or Plasma
19
101
3.08
2.49
2.6
2.4
nmol/l
82.6
75.2
0.71
19
92
(3029187) Natriuretic peptide.B prohormone N-Terminal [Mass/volume] in Serum or Plasma
11
48
2.94
1.96
3.5
3.2
ng/l
577.6
2317.7
0.65
11
41
(43054903) Holo-transcobalamin II [Moles/volume] in Serum
14
77
2.42
1.56
1.5
1.5
pmol/l
90.4
92.7
—
5
38
(3018677) aPTT in Platelet poor plasma by Coagulation assay
8
39
2.38
1.26
1.1
5.6
s
29.6
30.4
—
8
39
(3002109) Cholesterol in LDL/Cholesterol in HDL [Mass Ratio] in Serum or Plasma
0
35
0.00
1.24
0.0
1.8
—
—
—
0
0
(3003031) Transferrin.carbohydrate deficient.disialo/Transferrin.total in Serum or Plasma
0
35
0.00
1.24
0.0
1.3
—
1.5
—
0
29
(3007220) Creatine kinase [Enzymatic activity/volume] in Serum or Plasma
10
52
2.32
1.22
1.5
2.4
u/l
235.8
280.3
—
10
52
(3021960) Folate [Moles/volume] in Serum or Plasma
9
45
2.37
1.17
1.7
1.2
nmol/l
28.2
23.5
—
9
40
(40758558) Short blood count panel - Blood
13
77
2.14
1.17
3.5
7.4
—
—
—
0
0
(40763086) Leukocyte esterase [Presence] in Urine by Automated test strip
5
98
0.42
0.98
1.4
3.0
—
—
—
0
0
(40768797) Stomach Pathology biopsy report
6
31
2.14
0.89
1.2
1.2
—
—
—
0
0
(3009261) Glucose [Presence] in Urine by Test strip
9
139
0.52
0.87
2.2
3.1
—
0.0
—
0
27
(3013512) EKG study
9
55
1.87
0.83
4.2
3.5
—
—
—
0
0
(3001122) Ferritin [Mass/volume] in Serum or Plasma
16
115
1.76
0.76
3.8
2.8
ug/l
50.7
89.8
1.80
16
104
(36660697) Celiac disease serology panel - Serum
5
26
2.08
0.74
1.0
1.1
—
—
—
0
0
(3000991) Gas panel - Venous blood
6
34
1.93
0.63
7.5
8.3
—
—
—
0
0
(3044491) Cholesterol non HDL [Mass/volume] in Serum or Plasma
0
20
0.00
0.62
0.0
1.6
—
—
—
0
0
(3048929) Epstein Barr virus Ab [Presence] in Serum
0
19
0.00
0.62
0.0
1.3
—
—
—
0
0
(3015736) pH of Urine
7
104
0.59
0.62
1.9
2.6
—
—
—
0
0
(3007853) Bacteria identified in Skin by Aerobe culture
6
36
1.81
0.61
1.2
1.5
—
—
—
0
0
(42870588) Differential panel, method unspecified - Blood
14
103
1.62
0.58
3.6
12.4
—
—
—
0
0
(3003510) Neisseria gonorrhoeae DNA [Presence] in Urine by NAA with probe detection
6
38
1.70
0.58
2.0
2.5
—
—
—
0
0
(3013721) Aspartate aminotransferase [Enzymatic activity/volume] in Serum or Plasma
6
93
0.57
0.52
2.2
4.8
u/l
20.2
32.0
—
6
88
(3013603) Prostate specific Ag [Mass/volume] in Serum or Plasma
7
50
1.51
0.49
3.9
4.5
ug/l
1.8
1.6
—
7
45
(3018418) pH of Serum or Plasma
9
67
1.47
0.43
3.6
3.4
—
7.4
—
0
14
(3045783) Sodium and Potassium panel [Moles/volume] - Serum or Plasma
0
18
0.00
0.41
0.0
9.9
—
—
—
0
0
(3024354) Oxygen [Partial pressure] in Venous blood
5
36
1.46
0.40
3.0
13.9
kpa
7.0
4.9
—
5
36
(3024950) Chlamydia trachomatis DNA [Presence] in Urine by NAA with probe detection
6
42
1.52
0.38
2.3
2.6
—
—
—
0
0
(3001079) Blood group antibody screen [Presence] in Serum or Plasma
14
114
1.40
0.32
2.6
6.2
—
—
—
0
0
(3007164) IgA [Mass/volume] in Serum or Plasma
10
77
1.43
0.30
1.6
1.7
g/l
1.5
2.1
—
5
39
(3037467) Urinalysis macro (dipstick) panel - Urine
21
186
1.35
0.27
3.8
3.5
—
—
—
0
0
(3021447) Carbon dioxide [Partial pressure] in Venous blood
5
37
1.41
0.25
3.0
13.6
kpa
5.6
5.8
—
5
37
(3044889) 12 lead EKG panel
18
158
1.31
0.23
2.3
3.3
—
—
—
0
0
(3050380) Cytology report of Cervical or vaginal smear or scraping Cyto stain
0
11
0.00
0.22
0.0
1.2
—
—
—
0
0
(3000924) Streptococcus pyogenes [Presence] in Throat by Organism specific culture
0
11
0.00
0.22
0.0
1.2
—
—
—
0
0
(3030981) Hyaline casts [#/volume] in Urine by Automated count
0
11
0.00
0.22
0.0
2.3
—
0.1
—
0
11
(3025941) Bacteria identified in Stool by Culture
0
11
0.00
0.22
0.0
1.2
—
—
—
0
0
(3019060) Gas panel - Arterial blood
0
10
0.00
0.22
0.0
49.6
—
—
—
0
0
(3027315) Oxygen [Partial pressure] in Blood
0
10
0.00
0.22
0.0
2.3
—
7.6
—
0
10
(3013290) Carbon dioxide [Partial pressure] in Blood
0
10
0.00
0.22
0.0
2.3
—
4.8
—
0
10
(3020891) Body temperature
0
12
0.00
0.21
0.0
3.1
—
—
—
0
0
(3007844) Epstein Barr virus capsid IgM Ab [Units/volume] in Serum by Immunoassay
0
12
0.00
0.21
0.0
1.4
—
—
—
0
0
(3017918) Cytomegalovirus IgG Ab [Titer] in Serum or Plasma
0
12
0.00
0.21
0.0
1.3
—
—
—
0
0
(3015635) Cytomegalovirus IgM Ab [Units/volume] in Serum or Plasma
0
12
0.00
0.21
0.0
1.3
—
—
—
0
0
(4094501)
0
13
0.00
0.21
0.0
1.2
—
—
—
0
0
(3023368) Bacteria identified in Blood by Culture
6
51
1.21
0.21
2.5
5.6
—
—
—
0
0
(46236098) ABO and Rh group [Type] in Blood by Confirmatory method
8
69
1.21
0.18
1.8
2.9
—
—
—
0
0
(46235355) HIV 1 and 2 tests - Meaningful Use set
6
78
0.72
0.18
1.8
1.8
—
—
—
0
0
(40768804) Tissue Pathology biopsy report
9
77
1.23
0.18
2.2
1.8
—
—
—
0
0
(3013707) Erythrocyte sedimentation rate by Westergren method
21
192
1.26
0.17
2.7
4.3
mm/h
7.1
10.1
1.42
21
182
(3029287) Urinalysis microscopic panel [#/volume] - Urine by Automated count
8
94
0.80
0.16
3.0
2.4
—
—
—
0
0
(3044640) Blood type and Crossmatch panel - Blood
10
85
1.25
0.14
1.7
3.4
—
—
—
0
0
(3016431) Calcium.ionized [Moles/volume] adjusted to pH 7.4 in Serum or Plasma
13
115
1.22
0.13
12.5
13.9
mmol/l
1.2
1.2
0.47
13
102
(3026008) Bacteria identified in Urine by Culture
6
57
1.06
0.09
1.5
2.2
—
—
—
0
0
(3019284) Hepatitis B virus surface Ag [Presence] in Serum
5
63
0.76
0.09
1.4
1.7
—
—
—
0
0
(3011397) Hemoglobin [Presence] in Urine by Test strip
7
65
1.10
0.09
2.3
2.9
—
—
—
0
0
(36304419) Bacteria [Presence] in Urine
7
79
0.86
0.08
1.4
2.3
—
—
—
0
0
(3003694) ABO and Rh group [Type] in Blood
9
83
1.12
0.08
1.4
1.8
—
—
—
0
0
(3026910) Gamma glutamyl transferase [Enzymatic activity/volume] in Serum or Plasma
19
179
1.14
0.07
2.8
3.9
u/l
33.2
38.4
0.35
19
173
(3018251) Fasting glucose [Moles/volume] in Serum or Plasma
23
239
0.88
0.05
4.8
3.6
mmol/l
5.5
5.8
1.47
23
219
(706163) SARS-CoV-2 (COVID-19) RNA [Presence] in Respiratory system specimen by NAA with probe detection
23
223
1.10
0.02
3.3
3.7
—
—
—
0
0
(3021589) Normoblasts [#/volume] in Blood
15
148
1.02
0.00
3.5
13.8
e9/l
0.0
0.0
—
10
108
(40768793) Breast Pathology biopsy report
0
6
0.00
0.00
0.0
1.2
—
—
—
0
0
(3023081) Carboxyhemoglobin/Hemoglobin.total in Blood
0
6
0.00
0.00
0.0
81.7
—
1.5
—
0
6
(3038515) Glucose [Moles/volume] in Venous blood
0
6
0.00
0.00
0.0
1.7
—
7.8
—
0
6
(3003265) Liver kidney microsomal Ab [Titer] in Serum by Immunofluorescence
0
6
0.00
0.00
0.0
1.2
—
—
—
0
0
(3004248) Sex hormone binding globulin [Moles/volume] in Serum or Plasma
0
9
0.00
0.00
0.0
2.2
—
36.1
—
0
9
(3014148) Varicella zoster virus Ab [Titer] in Serum
0
6
0.00
0.00
0.0
1.3
—
—
—
0
0
(3015171) Extractable nuclear Ab [Units/volume] in Serum
0
9
0.00
0.00
0.0
1.1
—
—
—
0
0
(1616796) Gas panel - Central venous blood
0
9
0.00
0.00
0.0
1.6
—
—
—
0
0
(3016881) Enterovirus RNA [Presence] in Specimen by NAA with probe detection
0
6
0.00
0.00
0.0
1.5
—
—
—
0
0
(3042111) Morphology [Interpretation] in Bone marrow Narrative
0
6
0.00
0.00
0.0
6.0
—
—
—
0
0
(40765161) Human bocavirus DNA [Presence] in Specimen by NAA with probe detection
0
8
0.00
0.00
0.0
1.1
—
—
—
0
0
(3012220) Varicella zoster virus IgM Ab [Presence] in Serum by Immunoassay
0
6
0.00
0.00
0.0
1.5
—
—
—
0
0
(3002434) Lupus erythematosus deoxynucleoproteins IgG Ab [Units/volume] in Serum by Immunoassay
0
6
0.00
0.00
0.0
1.5
—
—
—
0
0
(3052851) Hemolysis interference index of Serum or Plasma
0
8
0.00
0.00
0.0
2.8
—
—
—
0
0
(3032352) Blasts [#/volume] in Cerebral spinal fluid
0
6
0.00
0.00
0.0
7.2
—
—
—
0
0
(3028369) Herpes simplex virus 1+2 DNA [Presence] in Specimen by NAA with probe detection
0
6
0.00
0.00
0.0
1.5
—
—
—
0
0
(3016018) Differential panel - Cerebral spinal fluid
0
9
0.00
0.00
0.0
10.0
—
—
—
0
0
(3023410) Appearance of Cerebral spinal fluid
0
9
0.00
0.00
0.0
8.9
—
—
—
0
0
(3008037) Lactate [Moles/volume] in Venous blood
0
6
0.00
0.00
0.0
1.7
—
1.6
—
0
6
(3034770) Mitochondria Ab [Titer] in Serum
0
9
0.00
0.00
0.0
1.4
—
—
—
0
0
(44816559) Phosphatidylethanol [Mass/volume] in Blood
0
9
0.00
0.00
0.0
1.0
—
—
—
0
0
(3025130) Human papilloma virus identified in Specimen
0
6
0.00
0.00
0.0
1.8
—
—
—
0
0
(36304997) Mycobacterium tuberculosis stimulated gamma interferon release by CD4+ and CD8+ T-cells [Units/volume] in Blood
0
8
0.00
0.00
0.0
1.4
—
—
—
0
0
(21492711) Cytomegalovirus IgG Ab avidity [Presence] in Serum or Plasma by Immunoassay
0
6
0.00
0.00
0.0
1.3
—
—
—
0
0
(42870560) Thyrotropin [Units/volume] in Cord blood
0
9
0.00
0.00
0.0
1.0
—
5.7
—
0
9
(3007930) Methemoglobin/Hemoglobin.total in Blood
0
6
0.00
0.00
0.0
81.7
—
0.7
—
0
6
(3039443) Prostate specific Ag panel - Serum or Plasma
0
6
0.00
0.00
0.0
1.7
—
—
—
0
0
(36032269) Testosterone Free [Moles/volume] in Serum or Plasma by calculation
0
8
0.00
0.00
0.0
2.0
—
216.5
—
0
8
(3019832) Treponema pallidum Ab [Presence] in Serum
5
50
1.00
0.00
1.2
1.6
—
—
—
0
0
(40769539) Bacteria identified based on 16S rRNA gene [Identifier] in Specimen by Sequencing
0
9
0.00
0.00
0.0
1.2
—
—
—
0
0
(3036086) Jo-1 extractable nuclear Ab [Units/volume] in Serum by Immunoassay
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
(3041008) Bicarbonate [Moles/volume] standard in Arterial cord blood
0
5
0.00
0.00
0.0
1.0
—
17.6
—
0
5
(1761482) Bacteria [#/volume] in Urine by Culture
0
7
0.00
0.00
0.0
2.7
—
—
—
0
0
(3003932) Carbon dioxide [Partial pressure] in Arterial cord blood
0
5
0.00
0.00
0.0
1.0
—
7.2
—
0
5
(3042596) Human coronavirus RNA [Presence] in Specimen by NAA with probe detection
0
7
0.00
0.00
0.0
1.1
—
—
—
0
0
(42869858) Acute and chronic leukemia fusion transcript panel - Blood or Tissue by Molecular genetics method
0
5
0.00
0.00
0.0
1.4
—
—
—
0
0
(3023150) Myeloperoxidase Ab [Units/volume] in Serum
0
7
0.00
0.00
0.0
1.0
—
—
—
0
0
(3018095) Leukocytes [#/volume] in Urine
10
100
1.00
0.00
2.2
3.1
e6/l
3.0
48.2
—
5
58
(3046279) Procalcitonin [Mass/volume] in Serum or Plasma
0
5
0.00
0.00
0.0
1.8
—
0.5
—
0
5
(3020717) Zinc [Moles/volume] in Serum or Plasma
0
5
0.00
0.00
0.0
1.2
—
11.5
—
0
5
(3021706) Oxygen [Partial pressure] in Arterial cord blood
0
5
0.00
0.00
0.0
1.0
—
3.5
—
0
5
(3012202) Varicella zoster virus DNA [Presence] in Specimen by NAA with probe detection
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
(3013527) Hepatitis B virus core IgM Ab [Presence] in Serum
0
7
0.00
0.00
0.0
1.1
—
—
—
0
0
(3042206) Streptococcus agalactiae Ag [Presence] in Vaginal fluid
0
7
0.00
0.00
0.0
1.1
—
—
—
0
0
(3030692) Respiratory virus DNA+RNA [Identifier] in Specimen by NAA with probe detection
0
7
0.00
0.00
0.0
1.0
—
—
—
0
0
(3026493) Urate [Moles/volume] in Serum or Plasma
6
65
0.91
0.00
3.8
5.1
umol/l
371.7
315.6
—
6
60
(3049717) Cytology report of Urine Cyto stain
0
5
0.00
0.00
0.0
1.6
—
—
—
0
0
(3017766) Complement C4 [Mass/volume] in Serum or Plasma
0
7
0.00
0.00
0.0
1.0
—
0.2
—
0
7
(3015399) Transferrin receptor.soluble [Mass/volume] in Serum or Plasma
5
52
0.95
0.00
2.4
2.6
mg/l
2.5
2.4
—
5
45
(3008909) Norovirus RNA [Presence] in Stool by NAA with probe detection
0
7
0.00
0.00
0.0
2.3
—
—
—
0
0
(3043849) Epstein Barr virus DNA [Units/volume] (viral load) in Serum or Plasma by NAA with probe detection
0
5
0.00
0.00
0.0
10.2
—
—
—
0
0
(3035933) Granulocytes/100 leukocytes in Blood
0
5
0.00
0.00
0.0
1.6
—
—
—
0
0
(3015183) Erythrocyte sedimentation rate
0
5
0.00
0.00
0.0
1.8
—
—
—
0
0
(1175715) Chlamydophila pneumoniae IgM Ab [Presence] in Serum by Immunoassay
0
5
0.00
0.00
0.0
1.4
—
—
—
0
0
(3017115) Methotrexate [Moles/volume] in Serum or Plasma
0
5
0.00
0.00
0.0
16.2
—
0.7
—
0
5
(3004959) Base excess in Arterial cord blood by calculation
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
(3035637) Corticotropin [Mass/volume] in Plasma
0
7
0.00
0.00
0.0
2.3
—
—
—
0
0
(3024135) Streptococcus.beta-hemolytic [Presence] in Throat by Organism specific culture
8
86
0.91
0.00
1.3
1.4
—
—
—
0
0
(3026389) Candida sp identified in Specimen by Organism specific culture
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
(3000620) Complement C3 [Mass/volume] in Serum or Plasma
0
7
0.00
0.00
0.0
1.0
—
1.2
—
0
7
(3006598) pH of Arterial cord blood
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
Mortality – FinRegistry
↥Association
Association between endpoint Q17_CONGEN_MALFO_OTHERPOSTER and mortality.
Females
No dataMales
No dataMortality risk
Mortality risk for people of age
years, who have Q17_CONGEN_MALFO_OTHERPOSTER.| N-year risk | Females | Males |
|---|---|---|
| 1 | No data | No data |
| 5 | No data | No data |
| 10 | No data | No data |
| 15 | No data | No data |
| 20 | No data | No data |
Relationships between endpoints
↥Index endpoint: Q17_CONGEN_MALFO_OTHERPOSTER – Other congenital malformations of posterior segment of eye (coloboma)
GWS hits: -
Endpoint
Case Overlap
Survival Analysis
Genetic Correlations
Genetic Signals
N (Jaccard index)
HR [CI]
Extremity
rg [CI]
Extremity
Hits
Coloc Hits
FinRegistry
FinnGen
FinRegistry
FinnGen
FinnGen
Loading data