This is a non-core endpoint: only basic statistics are computed.
See these related core endpoints for full statistics:
Congenital malformation of optic disc
Q17_CONGEN_MALFO_OPTI
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. |
45 |
4. Check minimum number of eventsNone |
45 |
5. Include endpointsNone |
45 |
6. Filter based on genotype QC (FinnGen only) |
45 |
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
Congenital malformation of optic disc
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 operation in hilmo
- Any event in hilmo or specialist outpatient
Similar with less cases:
None
Case counts by codes
↥
Summary Statistics
↥-FinRegistry-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | |||
| Whole population | 460 | 222 | 236 |
| Only index persons | 347 | 179 | 168 |
| 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 | 8.73 | 9.75 | 7.53 |
| Only index persons | 13.78 | 15.17 | 12.30 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 45 | 25 | 20 |
| Unadjusted period prevalence (%) | 0.01 | 0.01 | 0.01 |
| Median age at first event (years) | 27.07 | 36.77 | 14.94 |
-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
No data
-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
(3037467) Urinalysis macro (dipstick) panel - Urine
38
226
5.36
5.18
5.7
4.2
—
—
—
0
0
(3024928) Oxygen saturation in Venous blood
8
8
11.81
4.73
14.4
30.9
—
—
—
0
0
(3030306) Epithelial cells.non-squamous [#/volume] in Urine by Automated count
18
64
4.02
4.62
4.7
3.8
e6/l
0.5
0.6
0.10
13
43
(3001079) Blood group antibody screen [Presence] in Serum or Plasma
29
149
3.66
4.22
5.4
5.0
—
—
—
0
0
(3019230) Fractional oxyhemoglobin in Venous blood
7
7
11.53
4.16
16.1
31.9
%
69.6
82.0
—
7
7
(3000515) Antithrombin actual/normal in Platelet poor plasma by Chromogenic method
10
25
4.86
3.93
7.3
7.7
%
97.5
92.5
—
10
25
(3024354) Oxygen [Partial pressure] in Venous blood
16
58
3.73
3.92
15.1
15.7
kpa
5.6
5.3
0.24
16
58
(3014218) Bicarbonate [Moles/volume] standard in Arterial blood
8
12
7.83
3.86
65.8
5.7
mmol/l
24.9
24.3
—
8
12
(3024889) Methemoglobin/Hemoglobin.total in Venous blood
9
17
6.32
3.73
14.4
17.2
%
0.5
0.8
—
9
17
(3000991) Gas panel - Venous blood
16
60
3.59
3.71
47.0
10.2
—
—
—
0
0
(3010517) Carboxyhemoglobin/Hemoglobin.total in Venous blood
9
18
5.96
3.59
14.4
16.3
%
1.2
2.0
—
9
18
(3016293) Bicarbonate [Moles/volume] in Serum or Plasma
15
56
3.52
3.48
50.1
19.7
mmol/l
25.0
25.1
0.03
15
56
(3014007) Fractional oxyhemoglobin in Arterial blood
8
15
6.23
3.36
65.8
9.1
%
95.7
93.3
—
8
15
(3021447) Carbon dioxide [Partial pressure] in Venous blood
16
64
3.33
3.32
18.6
15.3
kpa
5.7
5.8
0.29
16
64
(3002032) Base excess in Venous blood by calculation
16
64
3.33
3.32
17.8
15.2
mmol/l
0.5
1.8
0.62
16
54
(3019250) Coagulation factor VIII activity actual/normal in Platelet poor plasma by Coagulation assay
9
20
5.34
3.32
3.4
7.9
%
179.4
182.2
—
9
20
(42870588) Differential panel, method unspecified - Blood
27
148
3.06
3.27
10.3
11.4
—
—
—
0
0
(36304419) Bacteria [Presence] in Urine
22
108
3.03
3.23
6.4
3.7
—
—
—
0
0
(3000504) BK virus DNA [Units/volume] (viral load) in Serum or Plasma by NAA with probe detection
5
5
11.01
3.05
4.6
8.2
—
—
—
0
0
(3005772) Bilirubin.conjugated [Moles/volume] in Serum or Plasma
13
48
3.40
3.03
4.2
7.7
umol/l
3.9
5.1
0.78
13
42
(43055120) Cytomegalovirus DNA [Units/volume] (viral load) in Serum or Plasma by NAA with probe detection
7
15
5.31
2.71
9.3
12.5
—
154.0
—
0
5
(3014576) Chloride [Moles/volume] in Serum or Plasma
11
39
3.41
2.70
17.6
13.0
mmol/l
103.9
104.0
0.02
11
39
(3029287) Urinalysis microscopic panel [#/volume] - Urine by Automated count
23
125
2.72
2.70
6.4
4.3
—
—
—
0
0
(3012220) Varicella zoster virus IgM Ab [Presence] in Serum by Immunoassay
5
7
7.84
2.61
1.6
1.6
—
—
—
0
0
(3052851) Hemolysis interference index of Serum or Plasma
5
7
7.84
2.61
1.0
3.3
—
—
—
0
0
(3014148) Varicella zoster virus Ab [Titer] in Serum
5
7
7.84
2.61
1.6
1.6
—
—
—
0
0
(3033658) Prothrombin time (PT) actual/Normal
19
96
2.69
2.54
10.2
7.2
%
88.6
92.4
0.27
19
96
(3011397) Hemoglobin [Presence] in Urine by Test strip
18
90
2.67
2.44
3.4
3.8
—
—
—
0
0
(40762366) Oxygen capacity [Volume Fraction] in Arterial blood
7
18
4.40
2.36
74.3
7.6
—
—
—
0
0
(4010399)
6
15
4.44
2.11
1.2
1.3
—
—
—
0
0
(46236098) ABO and Rh group [Type] in Blood by Confirmatory method
16
82
2.48
2.01
4.3
3.3
—
—
—
0
0
(43534045) MCM6 gene c.-13910C>T and -13915T>G [Identifier] in Blood or Tissue by Molecular genetics method Nominal
0
46
0.00
1.83
0.0
1.0
—
—
—
0
0
(3022313) Gas panel - Capillary blood
10
42
2.78
1.83
13.1
11.8
—
—
—
0
0
(3025839) Triglyceride [Moles/volume] in Serum or Plasma
16
88
2.27
1.69
2.1
1.9
mmol/l
1.3
1.5
0.32
16
80
(3003694) ABO and Rh group [Type] in Blood
19
113
2.18
1.67
1.8
1.6
—
—
—
0
0
(3023368) Bacteria identified in Blood by Culture
14
73
2.33
1.66
4.2
5.8
—
—
—
0
0
(4035726)
7
26
2.99
1.66
2.3
1.8
—
—
—
0
0
(3044640) Blood type and Crossmatch panel - Blood
18
106
2.16
1.61
4.0
3.1
—
—
—
0
0
(3048929) Epstein Barr virus Ab [Presence] in Serum
7
28
2.77
1.52
3.6
2.0
—
—
—
0
0
(3007844) Epstein Barr virus capsid IgM Ab [Units/volume] in Serum by Immunoassay
6
22
2.98
1.49
3.8
2.1
—
—
—
0
0
(36031861) Influenza virus A and B and SARS-CoV-2 (COVID-19) and Respiratory syncytial virus RNA panel - Respiratory system specimen by NAA with probe detection
5
16
3.38
1.48
4.2
2.2
—
—
—
0
0
(3019069) Monocytes/100 leukocytes in Blood
28
200
2.06
1.47
11.0
10.8
%
8.1
8.1
0.02
28
189
(3015736) pH of Urine
20
127
2.03
1.45
3.1
3.3
—
—
—
0
0
(3018010) Neutrophils/100 leukocytes in Blood
28
202
2.02
1.41
10.7
10.5
%
54.1
51.7
0.41
28
194
(3028626) Oxygen [Partial pressure] in Capillary blood
9
44
2.30
1.36
14.4
12.3
kpa
9.9
9.8
—
9
39
(3003396) Base excess in Arterial blood by calculation
8
36
2.48
1.32
65.8
6.1
mmol/l
0.5
1.2
—
8
27
(3002030) Lymphocytes/100 leukocytes in Blood
28
205
1.97
1.32
10.6
10.8
%
30.3
34.4
0.92
28
197
(43055554) Base excess.100% oxygenated [Moles/volume] standard in Capillary blood by calculation
10
50
2.29
1.28
14.3
13.2
mmol/l
1.1
0.9
—
10
37
(3023024) Carbon dioxide [Partial pressure] in Capillary blood
10
51
2.24
1.22
14.4
13.3
kpa
5.2
4.9
—
10
45
(3043924) Respiratory syncytial virus RNA [Identifier] in Specimen by NAA with probe detection
8
40
2.21
1.19
3.5
1.9
—
—
—
0
0
(3021879) Hepatitis B virus core Ab [Presence] in Serum
7
32
2.40
1.14
1.9
1.7
—
—
—
0
0
(3042936) Bacteria identified in Isolate by Culture
9
46
2.19
1.12
1.9
1.8
—
—
—
0
0
(3015635) Cytomegalovirus IgM Ab [Units/volume] in Serum or Plasma
5
21
2.55
1.12
4.0
2.0
—
—
—
0
0
(3022096) Basophils/100 leukocytes in Blood
26
193
1.82
1.11
11.0
10.9
%
0.5
0.6
0.32
26
179
(3013742) Prealbumin [Mass/volume] in Serum or Plasma
9
47
2.14
1.10
3.2
4.4
g/l
0.2
0.2
—
9
47
(3017918) Cytomegalovirus IgG Ab [Titer] in Serum or Plasma
5
22
2.43
1.06
4.0
2.0
—
—
—
0
0
(3044889) 12 lead EKG panel
26
195
1.79
1.05
2.9
3.0
—
—
—
0
0
(3007853) Bacteria identified in Skin by Aerobe culture
9
50
2.00
1.04
1.9
1.6
—
—
—
0
0
(3002109) Cholesterol in LDL/Cholesterol in HDL [Mass Ratio] in Serum or Plasma
0
29
0.00
1.02
0.0
1.6
—
—
—
0
0
(40758558) Short blood count panel - Blood
19
131
1.78
1.01
6.3
11.1
—
—
—
0
0
(3022250) Lactate dehydrogenase [Enzymatic activity/volume] in Serum or Plasma by Lactate to pyruvate reaction
7
37
2.05
0.99
6.3
7.6
u/l
230.4
266.1
—
7
37
(3020630) Protein [Mass/volume] in Serum or Plasma
6
29
2.23
0.93
1.0
4.0
g/l
66.7
65.0
—
6
29
(3019050) Tissue transglutaminase IgA Ab [Units/volume] in Serum
8
130
0.53
0.92
1.3
1.9
—
3.1
—
0
23
(3019284) Hepatitis B virus surface Ag [Presence] in Serum
13
82
1.82
0.90
2.8
1.8
—
—
—
0
0
(3027545) Mycoplasma pneumoniae Ab [Presence] in Serum by Immunoassay
0
24
0.00
0.82
0.0
1.5
—
—
—
0
0
(3010521) Mycoplasma pneumoniae IgM Ab [Presence] in Serum by Immunoassay
0
26
0.00
0.81
0.0
1.3
—
—
—
0
0
(3021589) Normoblasts [#/volume] in Blood
24
186
1.62
0.79
12.9
15.1
e9/l
0.0
0.0
0.00
19
144
(3026008) Bacteria identified in Urine by Culture
13
86
1.72
0.77
1.7
2.6
—
—
—
0
0
(3038288) Influenza virus B RNA [Presence] in Specimen by NAA with probe detection
7
41
1.83
0.74
3.7
2.0
—
—
—
0
0
(3006140) Bilirubin.total [Moles/volume] in Serum or Plasma
22
172
1.55
0.67
7.0
9.7
umol/l
17.6
9.9
0.39
22
167
(3044491) Cholesterol non HDL [Mass/volume] in Serum or Plasma
0
20
0.00
0.62
0.0
1.6
—
—
—
0
0
(3001019) Free T4 and TSH panel - Serum or Plasma
0
19
0.00
0.62
0.0
1.3
—
—
—
0
0
(3016879) Cocaine [Presence] in Urine
0
21
0.00
0.62
0.0
1.5
—
—
—
0
0
(3019060) Gas panel - Arterial blood
0
21
0.00
0.62
0.0
6.1
—
—
—
0
0
(3000764) Benzodiazepines [Presence] in Urine
0
22
0.00
0.61
0.0
1.5
—
—
—
0
0
(3027008) Opiates [Presence] in Urine
0
23
0.00
0.60
0.0
1.5
—
—
—
0
0
(3028300) Cannabinoids [Presence] in Urine
0
23
0.00
0.60
0.0
1.5
—
—
—
0
0
(3027944) Amphetamines [Presence] in Urine
0
23
0.00
0.60
0.0
1.5
—
—
—
0
0
(3016417) Amylase.pancreatic [Enzymatic activity/volume] in Serum or Plasma
6
38
1.67
0.57
2.3
2.4
u/l
29.0
33.9
—
6
33
(3017143) Hepatitis C virus Ab [Presence] in Serum
9
64
1.51
0.56
3.3
1.6
—
—
—
0
0
(3044938) Influenza virus A RNA [Presence] in Specimen by NAA with probe detection
8
57
1.49
0.45
3.6
2.2
—
—
—
0
0
(1175715) Chlamydophila pneumoniae IgM Ab [Presence] in Serum by Immunoassay
0
15
0.00
0.42
0.0
1.2
—
—
—
0
0
(1001926) Buprenorphine [Presence] in Urine by Screen method
0
16
0.00
0.42
0.0
1.4
—
—
—
0
0
(3016251) Hemoglobin.gastrointestinal [Presence] in Stool
0
17
0.00
0.41
0.0
1.8
—
—
—
0
0
(3004588) Protein electrophoresis panel - Serum or Plasma
0
17
0.00
0.41
0.0
3.3
—
—
—
0
0
(3009542) Hematocrit [Volume Fraction] of Blood
40
372
1.68
0.40
44.2
16.3
%
38.3
39.3
0.61
34
317
(43054903) Holo-transcobalamin II [Moles/volume] in Serum
13
105
1.33
0.29
2.4
2.1
pmol/l
105.5
100.9
—
8
57
(3041096) Erythrocytes [Presence] in Urine by Automated
6
81
0.70
0.27
1.3
3.2
—
—
—
0
0
(46235355) HIV 1 and 2 tests - Meaningful Use set
11
88
1.33
0.25
3.5
2.0
—
—
—
0
0
(1761868) Lipid panel - Serum or Plasma
7
94
0.70
0.25
1.3
2.1
—
—
—
0
0
(40768797) Stomach Pathology biopsy report
5
37
1.39
0.24
1.0
1.2
—
—
—
0
0
(3016771) Amylase [Enzymatic activity/volume] in Serum or Plasma
13
109
1.27
0.22
1.8
3.2
u/l
57.2
52.5
0.30
13
101
(3006418) Campylobacter sp identified in Tissue by Organism specific culture
0
11
0.00
0.21
0.0
1.1
—
—
—
0
0
(42529406) Shigella sp [Presence] in Stool by Culture
0
11
0.00
0.21
0.0
1.1
—
—
—
0
0
(3014765) Yersinia sp identified in Stool by Organism specific culture
0
11
0.00
0.21
0.0
1.1
—
—
—
0
0
(40768443) Skin Pathology biopsy report
0
10
0.00
0.21
0.0
1.3
—
—
—
0
0
(3023465) Gamma globulin [Mass/volume] in Serum or Plasma by Electrophoresis
0
10
0.00
0.21
0.0
1.0
—
10.0
—
0
10
(3013327) Hepatitis A virus IgM Ab [Presence] in Serum
0
10
0.00
0.21
0.0
1.0
—
—
—
0
0
(4034850)
0
10
0.00
0.21
0.0
7.4
—
—
—
0
0
(3023150) Myeloperoxidase Ab [Units/volume] in Serum
0
10
0.00
0.21
0.0
1.1
—
—
—
0
0
(3043723) Beta 1 globulin [Mass/volume] in Serum or Plasma by Electrophoresis
0
10
0.00
0.21
0.0
1.0
—
—
—
0
0
(3047007) Chlamydophila sp Ab [Presence] in Serum
0
13
0.00
0.21
0.0
1.2
—
—
—
0
0
(3028707) Methadone [Presence] in Urine by Screen method
0
13
0.00
0.21
0.0
1.5
—
—
—
0
0
(3016650) Hepatitis A virus Ab [Presence] in Serum
0
13
0.00
0.21
0.0
1.0
—
—
—
0
0
(3018387) Mycoplasma pneumoniae IgG Ab [Units/volume] in Serum
0
14
0.00
0.20
0.0
1.1
—
—
—
0
0
(586526) SARS-CoV-2 (COVID-19) RNA [Presence] in Nasopharynx by NAA with probe detection
0
14
0.00
0.20
0.0
1.3
—
—
—
0
0
(40761511) CBC panel - Blood by Automated count
40
383
1.40
0.18
15.4
11.0
—
—
—
0
0
(3026910) Gamma glutamyl transferase [Enzymatic activity/volume] in Serum or Plasma
26
240
1.20
0.17
5.7
4.2
u/l
24.4
39.8
2.61
26
231
(40760892) CBC W Ordered Manual Differential panel - Blood
9
79
1.17
0.17
3.0
8.2
—
—
—
0
0
(3024135) Streptococcus.beta-hemolytic [Presence] in Throat by Organism specific culture
10
116
0.82
0.14
2.8
1.7
—
—
—
0
0
(3024950) Chlamydia trachomatis DNA [Presence] in Urine by NAA with probe detection
5
48
1.05
0.09
1.4
2.5
—
—
—
0
0
(3019832) Treponema pallidum Ab [Presence] in Serum
6
53
1.15
0.09
1.7
1.6
—
—
—
0
0
(3013512) EKG study
8
72
1.13
0.08
3.5
3.5
—
—
—
0
0
(3019150) Specific gravity of Urine by Refractometry
9
82
1.12
0.08
2.3
3.2
—
1.0
—
0
18
(40763086) Leukocyte esterase [Presence] in Urine by Automated test strip
11
117
0.92
0.02
2.2
3.6
—
—
—
0
0
(40768804) Tissue Pathology biopsy report
10
106
0.93
0.01
1.8
1.9
—
—
—
0
0
(706163) SARS-CoV-2 (COVID-19) RNA [Presence] in Respiratory system specimen by NAA with probe detection
32
324
0.96
0.00
4.9
3.8
—
—
—
0
0
(3018006) Microscopic observation [Identifier] in Cervix by Cyto stain.thin prep
6
62
0.96
0.00
1.8
1.2
—
—
—
0
0
(3004915) Chlamydophila pneumoniae IgA Ab [Units/volume] in Serum
0
8
0.00
0.00
0.0
1.4
—
—
—
0
0
(3025468) Yersinia sp identified in Specimen by Organism specific culture
0
6
0.00
0.00
0.0
2.2
—
—
—
0
0
(3022411) Androstenedione [Moles/volume] in Serum or Plasma
0
5
0.00
0.00
0.0
1.2
—
5.3
—
0
5
(36660697) Celiac disease serology panel - Serum
5
57
0.86
0.00
1.2
1.3
—
—
—
0
0
(3032035) Polymorphonuclear cells/100 leukocytes in Blood
0
9
0.00
0.00
0.0
4.4
—
55.0
—
0
9
(3026048) Bordetella pertussis IgG Ab [Units/volume] in Serum
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
(3003265) Liver kidney microsomal Ab [Titer] in Serum by Immunofluorescence
0
9
0.00
0.00
0.0
1.7
—
—
—
0
0
(3035797) Protein.monoclonal band 2 [Mass/volume] in Serum or Plasma by Electrophoresis
0
8
0.00
0.00
0.0
1.0
—
0.0
—
0
8
(3013336) Amino acids [Identifier] in Serum or Plasma
0
6
0.00
0.00
0.0
1.7
—
—
—
0
0
(3000012) Reticulocyte production index
0
5
0.00
0.00
0.0
3.2
—
—
—
0
0
(42868716) Shigella species+EIEC invasion plasmid antigen H ipaH gene [Presence] in Stool by NAA with probe detection
0
6
0.00
0.00
0.0
2.2
—
—
—
0
0
(3015322) Alpha 1 globulin [Mass/volume] in Serum or Plasma by Electrophoresis
0
8
0.00
0.00
0.0
1.0
—
3.4
—
0
8
(3029713) Protein.monoclonal band 1 [Mass/volume] in Serum or Plasma by Electrophoresis
0
8
0.00
0.00
0.0
1.0
—
0.0
—
0
8
(40762485) Glomerular basement membrane Ab [Units/volume] in Serum by Immunoassay
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
(3028192) IgG subclass 2 [Mass/volume] in Serum
0
7
0.00
0.00
0.0
1.0
—
3.1
—
0
7
(37019628) Gastrointestinal bacterial pathogens panel - Stool by NAA with probe detection
0
9
0.00
0.00
0.0
1.8
—
—
—
0
0
(3029338) Protein.monoclonal band 3 [Mass/volume] in Serum or Plasma by Electrophoresis
0
8
0.00
0.00
0.0
1.0
—
0.0
—
0
8
(40758897) Direct antiglobulin test.IgG specific reagent [Presence] on Red Blood Cells
0
5
0.00
0.00
0.0
7.0
—
—
—
0
0
(3030905) Polymorphonuclear cells [#/volume] in Blood
0
9
0.00
0.00
0.0
4.3
—
4.6
—
0
9
(40758895) Direct antiglobulin test.complement C3d specific reagent [Presence] on Red Blood Cells
0
5
0.00
0.00
0.0
7.0
—
—
—
0
0
(3009340) Metanephrine [Moles/volume] in Serum or Plasma
0
5
0.00
0.00
0.0
1.4
—
—
—
0
0
(3019539) Treponema pallidum Ab [Titer] in Serum by Hemagglutination
0
5
0.00
0.00
0.0
1.6
—
—
—
0
0
(43055361) Metamyelocytes/Leukocytes [Pure number fraction] in Blood by Manual count
0
6
0.00
0.00
0.0
4.0
—
—
—
0
0
(3042111) Morphology [Interpretation] in Bone marrow Narrative
0
5
0.00
0.00
0.0
3.2
—
—
—
0
0
(3029379) Protein.monoclonal band 4 [Mass/volume] in Serum or Plasma by Electrophoresis
0
8
0.00
0.00
0.0
1.0
—
0.0
—
0
8
(3047826) Mullerian inhibiting substance [Mass/volume] in Serum or Plasma
0
7
0.00
0.00
0.0
1.0
—
4.7
—
0
7
(3053028) Streptococcus sp identified in Specimen by Organism specific culture
0
5
0.00
0.00
0.0
1.8
—
—
—
0
0
(3012568) Campylobacter sp identified in Specimen by Organism specific culture
0
6
0.00
0.00
0.0
2.2
—
—
—
0
0
(3032155) Metanephrine Free [Moles/volume] in Serum or Plasma
0
6
0.00
0.00
0.0
1.7
—
—
—
0
0
(42529201) Cancer Ag 19-9 [Units/volume] in Serum or Plasma by Immunoassay
0
8
0.00
0.00
0.0
6.3
—
72.5
—
0
8
(3012477) Bordetella pertussis DNA [Presence] in Specimen by NAA with probe detection
0
7
0.00
0.00
0.0
2.9
—
—
—
0
0
(3046294) Neutrophil cytoplasmic Ab.classic [Titer] in Serum
0
6
0.00
0.00
0.0
1.3
—
—
—
0
0
(3006588) Cancer Ag 15-3 [Units/volume] in Serum or Plasma
0
6
0.00
0.00
0.0
5.2
—
24.5
—
0
6
(40759836) Histone Ab [Presence] in Serum by Immunoblot
0
6
0.00
0.00
0.0
1.3
—
—
—
0
0
(40759842) Ribonucleoprotein extractable nuclear Ab [Presence] in Serum by Immunoblot
0
6
0.00
0.00
0.0
1.3
—
—
—
0
0
(40759843) Sjogrens syndrome-A extractable nuclear Ab [Presence] in Serum by Immunoblot
0
6
0.00
0.00
0.0
1.3
—
—
—
0
0
(3045066) Thymidine kinase [Enzymatic activity/volume] in Serum
0
5
0.00
0.00
0.0
1.2
—
20.7
—
0
5
(3050238) Crystals [Presence] in Synovial fluid by Light microscopy
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
(3011166) Borrelia burgdorferi Ab [Presence] in Cerebral spinal fluid
0
5
0.00
0.00
0.0
1.4
—
—
—
0
0
(3012494) Peanut IgE Ab [Units/volume] in Serum
0
6
0.00
0.00
0.0
1.0
—
76.6
—
0
6
(3016914) Bacteria identified in Cerebral spinal fluid by Culture
0
7
0.00
0.00
0.0
1.9
—
—
—
0
0
(3008733) Herpes simplex virus DNA [Presence] in Cerebral spinal fluid by NAA with probe detection
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
(40760888) Immunoglobulin light chains.free panel - Serum
0
5
0.00
0.00
0.0
7.4
—
—
—
0
0
(3000093) Morphology [Interpretation] in Blood Narrative
0
8
0.00
0.00
0.0
1.1
—
—
—
0
0
(3014162) Mycobacterium tuberculosis DNA [Presence] in Specimen by NAA with probe detection
0
8
0.00
0.00
0.0
3.3
—
—
—
0
0
(3023419) Bacteria identified in Sputum by Culture
0
5
0.00
0.00
0.0
10.8
—
—
—
0
0
(21493466) Plesiomonas shigelloides DNA [Presence] in Stool by NAA with non-probe detection
0
6
0.00
0.00
0.0
2.2
—
—
—
0
0
(40759812) SCL-70 extractable nuclear Ab [Presence] in Serum by Immunoblot
0
6
0.00
0.00
0.0
1.3
—
—
—
0
0
(3042975) Streptococcus sp identified in Isolate by Organism specific culture
0
7
0.00
0.00
0.0
1.0
—
—
—
0
0
(3004383) Neutrophil cytoplasmic Ab.classic [Titer] in Serum by Immunofluorescence
0
9
0.00
0.00
0.0
1.1
—
—
—
0
0
(3031478) Chlamydophila pneumoniae DNA [Presence] in Specimen by NAA with probe detection
0
5
0.00
0.00
0.0
2.6
—
—
—
0
0
(3016894) Varicella zoster virus DNA [Presence] in Cerebral spinal fluid by NAA with probe detection
0
6
0.00
0.00
0.0
1.2
—
—
—
0
0
(40759849) Smith extractable nuclear Ab [Presence] in Serum by Immunoblot
0
6
0.00
0.00
0.0
1.3
—
—
—
0
0
(3005702) Mycobacterium sp identified in Specimen by Organism specific culture
0
7
0.00
0.00
0.0
1.4
—
—
—
0
0
(3035320) C reactive protein [Mass/volume] in Body fluid
0
5
0.00
0.00
0.0
1.6
—
—
—
0
0
(40768441) Liver Pathology biopsy report
0
8
0.00
0.00
0.0
1.6
—
—
—
0
0
(3032773) Endomysium IgG Ab [Titer] in Serum
0
9
0.00
0.00
0.0
1.1
—
—
—
0
0
(3048821) Cortisol [Moles/volume] in Serum or Plasma --post 1 mg dexamethasone PO overnight
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
(3028286) Albumin [Mass/volume] in Serum or Plasma by Electrophoresis
0
8
0.00
0.00
0.0
1.0
—
36.6
—
0
8
(21494429) FMR1 gene CGG repeat analysis in Blood or Tissue by Molecular genetics method
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
(3002482) Mycoplasma pneumoniae DNA [Presence] in Specimen by NAA with probe detection
0
7
0.00
0.00
0.0
3.0
—
—
—
0
0
(3020565) Legionella pneumophila DNA [Presence] in Specimen by NAA with probe detection
0
6
0.00
0.00
0.0
2.7
—
—
—
0
0
(3035933) Granulocytes/100 leukocytes in Blood
0
8
0.00
0.00
0.0
1.5
—
—
—
0
0
(3029080) Hemoglobin [Entitic mass] in Reticulocytes
0
7
0.00
0.00
0.0
3.0
—
30.9
—
0
7
(40759844) Sjogrens syndrome-B extractable nuclear Ab [Presence] in Serum by Immunoblot
0
6
0.00
0.00
0.0
1.3
—
—
—
0
0
(3007778) Kappa light chains/Lambda light chains [Mass Ratio] in Serum
0
7
0.00
0.00
0.0
5.7
—
—
—
0
0
(3030408) 3-Methoxytyramine [Moles/volume] in Serum or Plasma
0
6
0.00
0.00
0.0
1.7
—
—
—
0
0
(3024522) Salmonella sp identified in Specimen by Organism specific culture
0
6
0.00
0.00
0.0
2.2
—
—
—
0
0
(4062490)
0
7
0.00
0.00
0.0
1.0
—
—
—
0
0
(3005988) Vibrio sp identified in Specimen by Organism specific culture
0
6
0.00
0.00
0.0
2.2
—
—
—
0
0
(3033386) Bacteria [Presence] in Cerebral spinal fluid by Light microscopy
0
5
0.00
0.00
0.0
1.4
—
—
—
0
0
(3037756) Immunofixation for Serum or Plasma
0
6
0.00
0.00
0.0
1.2
—
—
—
0
0
(40764126) Parainfluenza virus RNA [Presence] in Specimen by NAA with probe detection
0
6
0.00
0.00
0.0
1.7
—
—
—
0
0
(3002619) Bacteria identified in Specimen by Culture
0
6
0.00
0.00
0.0
1.5
—
—
—
0
0
(3000855) Microscopic observation [Identifier] in Vaginal fluid by Gram stain
0
8
0.00
0.00
0.0
1.6
—
—
—
0
0
(44816559) Phosphatidylethanol [Mass/volume] in Blood
0
9
0.00
0.00
0.0
1.1
—
—
—
0
0
(40768793) Breast Pathology biopsy report
0
8
0.00
0.00
0.0
1.0
—
—
—
0
0
(3002148) Methylenedioxymethamphetamine [Presence] in Urine by Screen method
0
8
0.00
0.00
0.0
1.3
—
—
—
0
0
(40758310) Human epididymis protein 4 [Moles/volume] in Serum or Plasma
0
7
0.00
0.00
0.0
1.4
—
86.0
—
0
7
(3027135) IgG subclass 1 [Mass/volume] in Serum
0
7
0.00
0.00
0.0
1.0
—
5.8
—
0
7
Mortality – FinRegistry
↥Association
Association between endpoint Q17_CONGEN_MALFO_OPTI and mortality.
Females
No dataMales
No dataMortality risk
Mortality risk for people of age
years, who have Q17_CONGEN_MALFO_OPTI.| 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_OPTI – Congenital malformation of optic disc
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