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. |
92 |
4. Check minimum number of eventsNone |
92 |
5. Include endpointsNone |
92 |
6. Filter based on genotype QC (FinnGen only) |
92 |
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 retinoschisis
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 | 1054 | 295 | 757 |
| Only index persons | 954 | 273 | 681 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.02 | 0.01 | 0.02 |
| Only index persons | 0.02 | 0.01 | 0.03 |
| Median age at first event (years) | |||
| Whole population | 34.56 | 47.65 | 29.44 |
| Only index persons | 37.40 | 49.24 | 32.66 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 92 | 41 | 51 |
| Unadjusted period prevalence (%) | 0.02 | 0.01 | 0.02 |
| Median age at first event (years) | 55.38 | 56.04 | 54.84 |
-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
No data
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.
Matched cohort
- Matched cases
- 86
- Matched controls
- 862
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
Q14.10
ICD-10 Finland
Congenital retinoschis
+∞
88.3
69
*
H33.1
ICD-10 Finland
Retinoschisis and retinal cysts
256.1
20.5
20
*
Q14.18
ICD-10 Finland
Congenital malformation of retina
+∞
18.4
17
*
H35.5
ICD-10 Finland
Hereditary retinal dystrophy
49.6
7.9
9
*
CKC12
NOMESCO Finland
Photocoagulation of retina
12.5
7.6
13
12
CKC10
NOMESCO Finland
Local photocoagulation of retina
33.0
7.3
9
*
Z31.5
ICD-10 Finland
Genetic counselling
13.9
6.2
10
8
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
(3016431) Calcium.ionized [Moles/volume] adjusted to pH 7.4 in Serum or Plasma
56
376
2.25
3.48
6.6
8.3
mmol/l
1.2
1.2
0.38
48
318
(3025023) Rhinovirus RNA [Presence] in Specimen by NAA with probe detection
6
8
7.92
3.10
1.0
1.8
—
—
—
0
0
(3016881) Enterovirus RNA [Presence] in Specimen by NAA with probe detection
6
9
7.04
2.91
1.0
1.7
—
—
—
0
0
(3044254) Respiratory syncytial virus RNA [Presence] in Specimen by NAA with probe detection
9
23
4.22
2.86
2.8
2.0
—
—
—
0
0
(46235759) Influenza virus B RNA [Presence] in Nasopharynx by NAA with probe detection
9
25
3.87
2.65
2.8
2.3
—
—
—
0
0
(42868544) Hantavirus puumala IgM Ab [Presence] in Serum or Plasma by Immunofluorescence
5
9
5.80
2.24
1.2
1.1
—
—
—
0
0
(3023368) Bacteria identified in Blood by Culture
32
201
1.91
2.13
5.3
4.7
—
—
—
0
0
(3035285) Chloride [Moles/volume] in Venous blood
5
10
5.21
2.10
3.2
2.7
mmol/l
105.6
107.5
—
5
10
(3033705) Calcium.ionized [Moles/volume] in Venous blood
5
10
5.21
2.10
3.2
2.7
—
—
—
0
0
(3041354) Potassium [Moles/volume] in Venous blood
5
10
5.21
2.10
3.2
2.7
mmol/l
4.0
4.0
—
5
10
(3004789) Transferrin [Mass/volume] in Serum or Plasma
19
104
2.04
1.84
1.7
2.4
g/l
2.4
2.3
0.37
19
94
(3003327) Ova and parasites identified in Stool by Light microscopy
7
23
3.21
1.84
1.6
1.4
—
—
—
0
0
(3004490) Bicarbonate [Moles/volume] standard in Capillary blood
9
36
2.66
1.79
4.3
4.5
mmol/l
25.1
24.7
—
9
36
(3044938) Influenza virus A RNA [Presence] in Specimen by NAA with probe detection
20
113
1.98
1.78
2.2
1.7
—
—
—
0
0
(3035637) Corticotropin [Mass/volume] in Plasma
5
13
4.00
1.74
1.6
1.5
—
—
—
0
0
(3049804) Myeloperoxidase IgG Ab [Units/volume] in Serum
7
27
2.72
1.55
1.3
1.1
—
—
—
0
0
(3026008) Bacteria identified in Urine by Culture
30
202
1.72
1.54
4.5
3.1
—
—
—
0
0
(1761482) Bacteria [#/volume] in Urine by Culture
6
21
2.98
1.53
11.5
5.8
—
—
—
0
0
(3022313) Gas panel - Capillary blood
9
37
2.58
1.53
4.8
4.2
—
—
—
0
0
(40765161) Human bocavirus DNA [Presence] in Specimen by NAA with probe detection
5
16
3.24
1.45
1.0
1.6
—
—
—
0
0
(3038515) Glucose [Moles/volume] in Venous blood
5
16
3.24
1.45
5.0
4.6
mmol/l
7.7
6.9
—
5
16
(40771025) 25-Hydroxyvitamin D3+25-Hydroxyvitamin D2 [Moles/volume] in Serum or Plasma
41
307
1.61
1.38
2.7
2.5
nmol/l
80.8
79.4
0.10
41
273
(3010517) Carboxyhemoglobin/Hemoglobin.total in Venous blood
9
42
2.26
1.38
11.0
5.1
%
0.7
1.2
—
9
42
(3022914) Cancer Ag 19-9 [Units/volume] in Serum or Plasma
0
38
0.00
1.38
0.0
3.5
—
316.5
—
0
31
(3008037) Lactate [Moles/volume] in Venous blood
5
17
3.05
1.37
5.0
4.4
mmol/l
1.5
1.6
—
5
17
(40764999) Glomerular filtration rate/1.73 sq M.predicted [Volume Rate/Area] in Serum, Plasma or Blood by Creatinine-based formula (CKD-EPI)
79
700
1.91
1.34
15.6
14.3
ml/min/173m2
77.4
80.4
0.57
68
562
(3051552) Clostridioides difficile toxin genes [Presence] in Stool by NAA with probe detection
11
56
2.10
1.28
1.4
1.7
—
—
—
0
0
(3021601) Nitrite [Presence] in Urine by Test strip
46
360
1.56
1.26
9.0
5.2
estimate
0.0
0.0
—
9
76
(3020460) C reactive protein [Mass/volume] in Serum or Plasma
83
758
1.97
1.24
16.5
15.1
mg/l
20.3
22.8
0.33
69
597
(40761511) CBC panel - Blood by Automated count
85
783
2.12
1.22
15.6
13.7
—
—
—
0
0
(46235355) HIV 1 and 2 tests - Meaningful Use set
7
137
0.47
1.22
1.9
1.5
—
—
—
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
8
38
2.21
1.22
1.6
1.6
—
—
—
0
0
(3020682) Albumin/Creatinine [Ratio] in Urine
31
223
1.59
1.21
4.5
3.9
mg/mmol
10.4
9.5
0.05
21
139
(3037467) Urinalysis macro (dipstick) panel - Urine
60
502
1.56
1.19
5.9
4.2
—
—
—
0
0
(3020427) Coagulation factor X inhibitor [Units/volume] in Platelet poor plasma by Coagulation assay
0
33
0.00
1.19
0.0
2.2
—
0.4
—
0
18
(586526) SARS-CoV-2 (COVID-19) RNA [Presence] in Nasopharynx by NAA with probe detection
10
51
2.08
1.16
1.7
1.4
—
—
—
0
0
(706163) SARS-CoV-2 (COVID-19) RNA [Presence] in Respiratory system specimen by NAA with probe detection
55
454
1.53
1.14
2.9
2.9
—
—
—
0
0
(3032080) INR in Blood by Coagulation assay
40
309
1.52
1.13
11.4
7.6
inr
1.4
1.2
0.39
14
95
(3018418) pH of Serum or Plasma
31
227
1.55
1.11
3.8
5.0
ph
7.4
7.4
—
7
45
(3000330) Specific gravity of Urine by Test strip
7
32
2.28
1.11
9.9
4.4
—
—
—
0
0
(3040853) Adenovirus DNA [Identifier] in Specimen by NAA with probe detection
5
21
2.46
1.10
1.0
1.6
—
—
—
0
0
(3019284) Hepatitis B virus surface Ag [Presence] in Serum
5
107
0.44
1.09
1.8
1.6
—
—
—
0
0
(40763086) Leukocyte esterase [Presence] in Urine by Automated test strip
37
283
1.51
1.09
5.8
4.1
—
—
—
0
0
(3000494) Fungus identified in Specimen by Culture
14
83
1.81
1.09
1.4
1.4
—
—
—
0
0
(40763571) Iron/Transferrin [Ratio] in Serum or Plasma
16
99
1.75
1.09
1.7
2.5
%
24.7
20.9
0.63
16
84
(3004588) Protein electrophoresis panel - Serum or Plasma
10
53
1.99
1.06
4.2
1.4
—
—
—
0
0
(3009261) Glucose [Presence] in Urine by Test strip
46
370
1.49
1.06
5.5
3.9
estimate
0.0
0.0
—
10
70
(46236098) ABO and Rh group [Type] in Blood by Confirmatory method
26
185
1.57
1.05
2.0
2.6
—
—
—
0
0
(3019473) Protein [Mass/volume] in Cerebral spinal fluid
5
22
2.34
1.04
1.2
2.5
mg/l
435.6
404.6
—
5
22
(3042936) Bacteria identified in Isolate by Culture
15
93
1.73
1.01
2.4
2.1
—
—
—
0
0
(3008486) Thyroxine (T4) free [Moles/volume] in Serum or Plasma
65
564
1.52
1.00
3.6
3.8
pmol/l
15.0
14.9
0.16
59
516
(3048816) Calcium.ionized [Moles/volume] adjusted to pH 7.4 in Blood
11
62
1.88
0.99
2.9
5.1
mmol/l
1.2
1.2
0.28
11
57
(3022948) Iron [Moles/volume] in Serum or Plasma
18
119
1.64
0.97
1.8
2.4
umol/l
14.2
12.9
0.32
18
111
(4010399)
9
52
1.81
0.95
1.6
1.6
—
—
—
0
0
(3009343) pH of Capillary blood
9
52
1.81
0.95
4.9
4.4
—
7.5
—
0
7
(3035350) Ketones [Presence] in Urine by Test strip
45
367
1.44
0.93
4.7
3.8
estimate
0.0
0.0
—
10
74
(3019550) Sodium [Moles/volume] in Serum or Plasma
83
773
1.75
0.88
19.8
16.8
mmol/l
139.3
139.7
0.82
83
754
(43054903) Holo-transcobalamin II [Moles/volume] in Serum
36
285
1.43
0.86
2.0
1.8
pmol/l
100.8
93.9
0.42
22
148
(40768797) Stomach Pathology biopsy report
16
107
1.60
0.83
1.5
1.2
—
—
—
0
0
(42870588) Differential panel, method unspecified - Blood
34
268
1.43
0.83
7.7
6.7
—
—
—
0
0
(3004119) Hemoglobin [Mass/volume] in Venous blood
8
48
1.73
0.81
12.5
5.4
g/l
125.1
128.5
—
8
48
(3025941) Bacteria identified in Stool by Culture
9
53
1.77
0.78
1.3
1.4
—
—
—
0
0
(3027273) Bicarbonate [Moles/volume] in Venous blood
6
34
1.82
0.78
4.5
4.3
mmol/l
24.5
24.3
—
6
34
(3023103) Potassium [Moles/volume] in Serum or Plasma
83
778
1.68
0.77
20.3
16.8
mmol/l
4.0
4.0
0.45
83
756
(3042194) Human metapneumovirus RNA [Presence] in Specimen by NAA with probe detection
5
23
2.24
0.77
1.0
1.5
—
—
—
0
0
(3012544) pH of Venous blood
13
84
1.64
0.77
9.7
6.6
—
—
—
0
0
(3041096) Erythrocytes [Presence] in Urine by Automated
27
207
1.43
0.76
6.6
3.9
—
—
—
0
0
(3014162) Mycobacterium tuberculosis DNA [Presence] in Specimen by NAA with probe detection
5
24
2.14
0.76
1.8
2.1
—
—
—
0
0
(3007853) Bacteria identified in Skin by Aerobe culture
14
93
1.60
0.75
1.6
1.5
—
—
—
0
0
(3022096) Basophils/100 leukocytes in Blood
44
369
1.37
0.73
6.7
7.1
%
0.7
0.7
0.22
44
346
(3018010) Neutrophils/100 leukocytes in Blood
45
379
1.37
0.73
6.9
6.9
%
59.7
57.6
0.51
45
356
(3044640) Blood type and Crossmatch panel - Blood
31
246
1.39
0.72
2.2
2.6
—
—
—
0
0
(3000620) Complement C3 [Mass/volume] in Serum or Plasma
5
27
1.90
0.69
1.8
1.3
g/l
1.3
1.2
—
5
27
(3049717) Cytology report of Urine Cyto stain
5
28
1.83
0.67
2.6
3.2
—
—
—
0
0
(3029879) Epithelial cells.squamous [#/volume] in Urine by Automated count
17
123
1.47
0.63
3.9
3.0
e6/l
7.3
2.8
—
10
66
(3048773) Triglyceride [Moles/volume] in Serum or Plasma --fasting
76
704
1.46
0.63
4.4
4.0
mmol/l
1.2
1.3
0.19
71
643
(3006504) Eosinophils/100 leukocytes in Blood
44
376
1.33
0.62
7.0
7.1
%
2.5
2.7
0.25
44
348
(42529406) Shigella sp [Presence] in Stool by Culture
0
21
0.00
0.61
0.0
1.4
—
—
—
0
0
(3014765) Yersinia sp identified in Stool by Organism specific culture
0
21
0.00
0.61
0.0
1.4
—
—
—
0
0
(3002030) Lymphocytes/100 leukocytes in Blood
45
387
1.32
0.61
6.8
7.1
%
26.7
27.8
0.24
45
362
(3013512) EKG study
26
206
1.37
0.60
5.3
4.2
—
—
—
0
0
(3009542) Hematocrit [Volume Fraction] of Blood
74
685
1.41
0.59
15.6
15.4
%
39.2
40.4
0.50
53
508
(3019069) Monocytes/100 leukocytes in Blood
44
379
1.31
0.58
7.1
7.2
%
9.0
8.7
0.17
44
358
(3004529) Oxygen [Partial pressure] adjusted to patient's actual temperature in Venous blood
6
36
1.71
0.58
6.3
4.9
%
44.0
50.9
—
6
36
(3018677) aPTT in Platelet poor plasma by Coagulation assay
17
126
1.43
0.57
1.4
2.6
s
29.8
30.0
0.06
17
120
(3001079) Blood group antibody screen [Presence] in Serum or Plasma
42
361
1.30
0.56
3.3
4.1
—
—
—
0
0
(3005785) Creatine kinase.MB [Mass/volume] in Serum or Plasma
9
62
1.50
0.55
2.3
2.7
ug/l
4.7
7.8
—
9
54
(3016771) Amylase [Enzymatic activity/volume] in Serum or Plasma
29
238
1.32
0.53
2.7
2.6
u/l
54.0
55.8
0.12
29
227
(3030306) Epithelial cells.non-squamous [#/volume] in Urine by Automated count
17
128
1.40
0.52
3.9
2.6
e6/l
3.0
0.8
0.97
11
70
(3000991) Gas panel - Venous blood
11
76
1.51
0.51
8.7
9.9
—
—
—
0
0
(40768804) Tissue Pathology biopsy report
34
288
1.29
0.49
1.3
2.0
—
—
—
0
0
(4035726)
10
68
1.53
0.49
1.3
1.4
—
—
—
0
0
(3019225) pH of Specimen
10
68
1.53
0.49
5.0
5.2
—
—
—
0
0
(3029937) Albumin [Presence] in Urine by Test strip
24
197
1.30
0.44
3.8
4.4
estimate
0.0
0.0
—
9
72
(3012516) Albumin [Mass/volume] in Urine
25
207
1.29
0.43
4.0
3.1
mg/l
31.7
65.0
0.90
16
128
(3022145) Colonoscopy Study observation
12
88
1.42
0.42
1.4
1.4
—
—
—
0
0
(3043723) Beta 1 globulin [Mass/volume] in Serum or Plasma by Electrophoresis
5
33
1.54
0.42
7.2
1.5
—
—
—
0
0
(3011288) Drugs identified in Urine by Screen method
0
15
0.00
0.41
0.0
1.8
—
—
—
0
0
(3000924) Streptococcus pyogenes [Presence] in Throat by Organism specific culture
0
16
0.00
0.41
0.0
1.3
—
—
—
0
0
(3011371) Neisseria gonorrhoeae DNA [Presence] in Specimen by NAA with probe detection
0
18
0.00
0.40
0.0
1.1
—
—
—
0
0
(3023421) Hepatitis B virus surface Ab [Units/volume] in Serum
0
18
0.00
0.40
0.0
1.4
—
303.6
—
0
7
(3002256) Pathology report gross observation
6
86
0.68
0.35
1.0
1.3
—
—
—
0
0
(3045783) Sodium and Potassium panel [Moles/volume] - Serum or Plasma
6
87
0.67
0.35
3.8
8.0
—
—
—
0
0
(3003694) ABO and Rh group [Type] in Blood
24
203
1.25
0.34
1.3
1.4
—
—
—
0
0
(3044889) 12 lead EKG panel
56
518
1.21
0.33
3.5
3.8
—
—
—
0
0
(3016888) Borrelia burgdorferi IgG Ab [Units/volume] in Serum
7
56
1.27
0.30
1.0
1.2
—
39.8
—
0
6
(3002109) Cholesterol in LDL/Cholesterol in HDL [Mass Ratio] in Serum or Plasma
8
63
1.30
0.29
1.3
1.7
—
—
—
0
0
(3041942) Cyclic citrullinated peptide Ab [Units/volume] in Serum
14
114
1.27
0.27
1.3
1.2
u/ml
32.3
8.7
—
7
44
(1761868) Lipid panel - Serum or Plasma
30
268
1.18
0.25
3.3
2.9
—
—
—
0
0
(3029287) Urinalysis microscopic panel [#/volume] - Urine by Automated count
30
269
1.17
0.24
3.8
3.3
—
—
—
0
0
(40758558) Short blood count panel - Blood
23
202
1.18
0.23
4.7
8.2
—
—
—
0
0
(3020961) Endomysium IgA Ab [Titer] in Serum
5
41
1.23
0.22
1.0
1.2
—
—
—
0
0
(3030467) Casts [#/volume] in Urine by Automated count
25
222
1.17
0.22
3.8
2.9
e6/l
3.4
0.5
0.90
20
163
(3044491) Cholesterol non HDL [Mass/volume] in Serum or Plasma
5
42
1.20
0.22
1.0
1.5
—
—
—
0
0
(40768806) Pleura Pathology biopsy report
0
11
0.00
0.21
0.0
1.8
—
—
—
0
0
(40768441) Liver Pathology biopsy report
0
11
0.00
0.21
0.0
1.0
—
—
—
0
0
(3019902) Methicillin resistant Staphylococcus aureus [Presence] in Specimen by Organism specific culture
10
80
1.28
0.21
1.6
3.9
—
—
—
0
0
(3030905) Polymorphonuclear cells [#/volume] in Blood
0
13
0.00
0.21
0.0
3.2
—
6.9
—
0
13
(3032035) Polymorphonuclear cells/100 leukocytes in Blood
0
13
0.00
0.21
0.0
4.5
—
68.1
—
0
13
(3001784) Prostate Specific Ag Free/Prostate specific Ag.total in Serum or Plasma
27
243
1.16
0.20
4.1
4.5
%
20.9
23.5
0.40
11
115
(3038288) Influenza virus B RNA [Presence] in Specimen by NAA with probe detection
10
81
1.26
0.19
1.8
1.5
—
—
—
0
0
(3023602) Cholesterol in HDL [Moles/volume] in Serum or Plasma
75
726
1.18
0.19
4.8
4.5
mmol/l
1.5
1.5
0.13
70
667
(3022621) pH of Urine by Test strip
7
57
1.25
0.19
6.6
2.1
—
—
—
0
0
(3028026) IgM [Mass/volume] in Serum or Plasma
7
62
1.14
0.18
9.4
1.8
g/l
5.6
1.1
—
7
57
(3033319) Streptococcus pyogenes Ag [Presence] in Throat
5
69
0.71
0.17
1.0
1.5
—
—
—
0
0
(3026493) Urate [Moles/volume] in Serum or Plasma
18
203
0.86
0.17
2.8
3.0
umol/l
370.4
5867.7
1.03
18
173
(3043924) Respiratory syncytial virus RNA [Identifier] in Specimen by NAA with probe detection
10
83
1.23
0.16
1.7
1.5
—
—
—
0
0
(3017446) Testosterone [Moles/volume] in Serum or Plasma
9
80
1.14
0.16
1.3
2.2
nmol/l
11.1
14.1
—
9
75
(3019050) Tissue transglutaminase IgA Ab [Units/volume] in Serum
20
180
1.14
0.14
1.2
1.4
u/ml
0.7
0.9
—
6
53
(3019900) Cholesterol [Moles/volume] in Serum or Plasma
75
730
1.15
0.14
4.8
4.5
mmol/l
4.5
4.6
0.35
70
676
(3022217) INR in Platelet poor plasma by Coagulation assay
11
94
1.19
0.14
3.7
16.9
inr
1.3
1.3
—
6
12
(3002582) Erythrocytes [#/volume] in Urine
27
250
1.11
0.13
3.7
3.2
e6/l
121.8
285.0
0.25
22
191
(36304419) Bacteria [Presence] in Urine
20
217
0.90
0.10
4.2
2.9
—
—
—
0
0
(3019060) Gas panel - Arterial blood
5
43
1.17
0.10
5.0
3.7
—
—
—
0
0
(43054914) Glucose tolerance 2 hours panel - Serum or Plasma
6
56
1.08
0.09
1.5
1.8
—
—
—
0
0
(36660697) Celiac disease serology panel - Serum
7
63
1.12
0.08
1.0
1.3
—
—
—
0
0
(3016293) Bicarbonate [Moles/volume] in Serum or Plasma
7
65
1.08
0.08
12.9
9.8
mmol/l
25.1
25.4
—
7
65
(3018006) Microscopic observation [Identifier] in Cervix by Cyto stain.thin prep
6
73
0.81
0.08
1.0
1.4
—
—
—
0
0
(3027945) Reticulocytes/100 erythrocytes in Blood
9
101
0.88
0.06
2.1
2.9
%
1.5
1.7
—
9
93
(3011397) Hemoglobin [Presence] in Urine by Test strip
18
169
1.08
0.05
3.9
3.3
—
—
—
0
0
(3005013) Prostate Specific Ag Free [Mass/volume] in Serum or Plasma
19
179
1.08
0.05
3.4
3.0
ug/l
0.6
0.8
—
9
119
(40760892) CBC W Ordered Manual Differential panel - Blood
19
182
1.06
0.02
3.2
5.6
—
—
—
0
0
(3018095) Leukocytes [#/volume] in Urine
29
282
1.04
0.02
4.6
3.8
e6/l
38.4
71.6
0.36
20
201
(3003458) Phosphate [Moles/volume] in Serum or Plasma
12
114
1.06
0.01
4.5
7.2
mmol/l
1.0
1.1
1.03
12
105
(3001308) Cholesterol in LDL [Moles/volume] in Serum or Plasma
75
748
1.01
0.00
5.6
5.0
mmol/l
2.6
2.8
0.74
69
688
(3007164) IgA [Mass/volume] in Serum or Plasma
17
171
0.99
0.00
1.4
1.5
g/l
2.3
2.4
—
8
102
(3003510) Neisseria gonorrhoeae DNA [Presence] in Urine by NAA with probe detection
5
52
0.96
0.00
1.4
1.6
—
—
—
0
0
(3024950) Chlamydia trachomatis DNA [Presence] in Urine by NAA with probe detection
5
59
0.84
0.00
1.6
1.6
—
—
—
0
0
(3032773) Endomysium IgG Ab [Titer] in Serum
0
9
0.00
0.00
0.0
1.0
—
—
—
0
0
(3000093) Morphology [Interpretation] in Blood Narrative
0
9
0.00
0.00
0.0
1.1
—
—
—
0
0
(3035933) Granulocytes/100 leukocytes in Blood
0
6
0.00
0.00
0.0
1.2
—
—
—
0
0
(3010838) Calcium [Moles/time] in 24 hour Urine
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
(1617658) Protocol used for examination of sentinel lymph nodes
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
(3003265) Liver kidney microsomal Ab [Titer] in Serum by Immunofluorescence
0
9
0.00
0.00
0.0
2.0
—
—
—
0
0
(21494755) Public health laboratory ask at order entry panel
8
81
0.99
0.00
1.3
1.4
—
—
—
0
0
(3005136) Cladosporium herbarum IgE Ab [Units/volume] in Serum
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
(3045788) Cell count panel - Pleural fluid
0
6
0.00
0.00
0.0
1.2
—
—
—
0
0
(40759844) Sjogrens syndrome-B extractable nuclear Ab [Presence] in Serum by Immunoblot
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
(40759849) Smith extractable nuclear Ab [Presence] in Serum by Immunoblot
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
(3005719) IgG [Mass/volume] in Serum or Plasma
7
75
0.93
0.00
2.4
2.4
g/l
19.1
10.3
—
7
67
(3013727) Leukocytes other/100 leukocytes in Blood
0
5
0.00
0.00
0.0
4.6
—
63.0
—
0
5
(3023709) Somatotropin [Mass/volume] in Serum or Plasma
0
5
0.00
0.00
0.0
4.2
—
0.8
—
0
5
(3017569) Oxygen content in Arterial blood
0
7
0.00
0.00
0.0
11.1
—
—
—
0
0
(40761535) Cells panel - Urine sediment
5
55
0.90
0.00
2.6
3.8
—
—
—
0
0
(40761536) Microorganisms panel - Urine sediment
7
69
1.02
0.00
5.6
4.1
—
—
—
0
0
(3020393) Adenovirus Ag [Presence] in Stool
0
5
0.00
0.00
0.0
2.2
—
—
—
0
0
(3000855) Microscopic observation [Identifier] in Vaginal fluid by Gram stain
0
7
0.00
0.00
0.0
1.3
—
—
—
0
0
(3012565) Volume of 24 hour Urine
0
6
0.00
0.00
0.0
2.0
—
2157.5
—
0
6
(1001509) Gas and Carbon monoxide and Electrolytes panel - Arterial blood
0
9
0.00
0.00
0.0
1.8
—
—
—
0
0
(43055361) Metamyelocytes/Leukocytes [Pure number fraction] in Blood by Manual count
0
7
0.00
0.00
0.0
3.7
—
—
—
0
0
(3020321) Streptococcus agalactiae [Presence] in Vaginal fluid by Organism specific culture
0
9
0.00
0.00
0.0
1.8
—
—
—
0
0
(3002148) Methylenedioxymethamphetamine [Presence] in Urine by Screen method
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
(40759842) Ribonucleoprotein extractable nuclear Ab [Presence] in Serum by Immunoblot
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
(3014271) Vancomycin [Susceptibility]
0
5
0.00
0.00
0.0
2.0
—
—
—
0
0
(44816844) Macroprolactin [Units/volume] in Serum or Plasma
0
5
0.00
0.00
0.0
1.6
—
—
—
0
0
(3021952) Alkaline phosphatase isoenzymes [Enzymatic activity/volume] in Serum or Plasma by Heat stability
0
7
0.00
0.00
0.0
1.1
—
—
—
0
0
(3018171) Choriogonadotropin [Units/volume] in Serum or Plasma
0
9
0.00
0.00
0.0
1.1
—
—
—
0
0
(40759812) SCL-70 extractable nuclear Ab [Presence] in Serum by Immunoblot
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
(3036428) Adenosine deaminase [Enzymatic activity/volume] in Pleural fluid
0
5
0.00
0.00
0.0
1.2
—
7.4
—
0
5
(40759836) Histone Ab [Presence] in Serum by Immunoblot
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
(4027681)
0
6
0.00
0.00
0.0
1.3
—
—
—
0
0
(44816752) ERBB2 gene copy number/nucleus in Tissue by FISH
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
(21492888) Glucose tolerance 2 hours gestational panel - Serum or Plasma
0
9
0.00
0.00
0.0
1.7
—
—
—
0
0
(3004451) EKG impression Narrative
0
6
0.00
0.00
0.0
1.3
—
—
—
0
0
(40759883) Oligoclonal Bands IgG [Presence] in Cerebral spinal fluid by Isoelectric focusing
0
7
0.00
0.00
0.0
1.0
—
—
—
0
0
(3017315) Amylase [Enzymatic activity/volume] in Urine
0
5
0.00
0.00
0.0
1.4
—
410.8
—
0
5
(46235128) Lupus anticoagulant aPTT and dRVVT screening panel W Reflex
0
5
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
1.5
—
—
—
0
0
(40759843) Sjogrens syndrome-A extractable nuclear Ab [Presence] in Serum by Immunoblot
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
(3015183) Erythrocyte sedimentation rate
0
6
0.00
0.00
0.0
1.5
—
—
—
0
0
(3050129) First trimester maternal screen panel - Serum or Plasma
0
8
0.00
-0.00
0.0
1.5
—
—
—
0
0
(3024474) Albumin [Mass/volume] in Cerebral spinal fluid
0
8
0.00
-0.00
0.0
1.1
—
287.9
—
0
8
(1002102) Choriogonadotropin.intact+Beta subunit [Mass/volume] in Serum or Plasma
0
8
0.00
-0.00
0.0
1.4
—
—
—
0
0
(3012441) Differential panel - Pleural fluid
0
8
0.00
-0.00
0.0
1.3
—
—
—
0
0
(40760847) Basement membrane Ab [Titer] in Serum by Immunofluorescence
0
8
0.00
-0.00
0.0
1.1
—
—
—
0
0
(3025018) Bordetella pertussis Ab [Titer] in Serum
0
8
0.00
-0.00
0.0
1.0
—
—
—
0
0
(40763082) Lactate dehydrogenase [Enzymatic activity/volume] in Pleural fluid by Lactate to pyruvate reaction
0
8
0.00
-0.00
0.0
1.3
—
143.1
—
0
8
Mortality – FinRegistry
↥Association
Association between endpoint Q17_CONGEN_MALFO_RETI and mortality.
Females
No dataMales
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| Q17_CONGEN_MALFO_RETI | 0.904 [0.69, 1.18] | 0.455 |
| Birth year | 0.986 [0.98, 1.0] | 0.003 |
During the follow-up period (1.1.1998 — 31.12.2019), 60 out of 707 males with Q17_CONGEN_MALFO_RETI died.
Mortality risk
Mortality risk for people of age
years, who have Q17_CONGEN_MALFO_RETI.| N-year risk | Females | Males |
|---|---|---|
| 1 | No data | 0.189% |
| 5 | No data | 1.041% |
| 10 | No data | 2.591% |
| 15 | No data | 4.784% |
| 20 | No data | 8.06% |
Relationships between endpoints
↥Index endpoint: Q17_CONGEN_MALFO_RETI – Congenital retinoschisis
GWS hits: 5
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