No definition available.
Endpoint definition
↥Report an error or suggest an improvement for this endpoint codes
Endpoint definition steps |
FinnGen |
|---|---|
Phenotype data |
557745 |
1. Apply sex-specific ruleNone |
557745 |
2. Check conditionsNone |
557745 |
3. Check pre-conditions, main-only, mode, registry filtersRegistry filters: 2 out of 7 registries used, show all original rules. |
110 |
4. Check minimum number of eventsNone |
110 |
5. Include endpointsNone |
110 |
6. Filter based on genotype QC (FinnGen only) |
93 |
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
- Congenital malformations, deformations and chromosomal abnormalities, including avohilmo
- Any prescribed medicine buy
Similar with less cases:
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 | 93 | 38 | 55 |
| Unadjusted period prevalence (%) | 0.02 | 0.01 | 0.03 |
| Median age at first event (years) | 56.82 | 57.05 | 56.66 |
-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
↥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
- 101
- Matched controls
- 1010
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
Q14.10
ICD-10 Finland
Congenital retinoschis
+∞
98.8
78
*
Q14.18
ICD-10 Finland
Congenital malformation of retina
+∞
25.0
23
*
H33.1
ICD-10 Finland
Retinoschisis and retinal cysts
103.5
22.8
24
*
H35.5
ICD-10 Finland
Hereditary retinal dystrophy
+∞
10.6
10
*
CK2L4
NOMESCO Finland
Wide-field/panoramic imaging of ocular fundus
40.7
9.2
11
*
CKC12
NOMESCO Finland
Photocoagulation of retina
7.9
7.7
17
25
CK2X4
NOMESCO Finland
Optical coherence tomography (OCT) of ocular fundus
4.3
7.7
23
65
Z3229
NOMESCO Finland
Other healthcare associate professional
4.4
6.7
19
51
XCW99
NOMESCO Finland
Other investigative procedure of eye
3.9
6.5
22
68
LabWAS
↥OMOP Concept
People with measurements
Mean N measurements
Mean measured value
(ID) Name
N Cases
N Controls
OR
-log10(p)
cases
controls
cases
controls
unit
-log10(p)
N cases
N controls
101
938
+∞
2.92
27.2
25.9
134.08
136.06
g/l
0.71
101
930
101
938
+∞
2.92
27.1
26.5
39.89
40.58
%
0.63
101
928
101
938
+∞
2.92
26.8
25.6
90.68
91.03
fl
0.29
101
931
6
11
5.72
2.58
1.0
1.7
—
—
—
0
0
63
467
1.93
2.56
6.8
8.9
1.23
1.21
mmol/l
0.93
55
406
93
814
2.80
2.54
18.1
17.0
79.23
80.40
ml/min/173m2
0.21
85
755
13
52
2.72
2.47
8.2
6.5
0.66
0.64
%
0.06
13
52
6
12
5.24
2.44
1.0
1.7
—
—
—
0
0
13
54
2.62
2.30
8.2
6.4
0.84
1.17
%
0.95
13
54
9
31
3.08
2.13
2.9
1.9
—
—
—
0
0
5
10
5.19
2.09
3.2
2.7
105.60
107.50
mmol/l
—
5
10
5
10
5.19
2.09
3.2
2.7
1.21
1.21
mmol/l
—
5
10
9
32
2.99
2.06
2.9
2.1
—
—
—
0
0
5
11
4.72
1.96
1.2
1.1
—
—
—
0
0
8
30
2.81
1.76
1.5
1.6
—
—
—
0
0
7
160
0.40
1.73
1.4
1.7
—
—
—
0
0
7
25
2.93
1.68
1.1
2.7
411.29
417.64
mg/l
—
7
25
6
20
3.12
1.60
1.5
1.3
—
—
—
0
0
6
21
2.97
1.53
1.5
1.2
—
—
—
0
0
40
290
1.63
1.52
4.4
3.9
8.30
9.16
mg/mmol
0.06
26
182
13
66
2.11
1.51
1.5
1.6
—
—
—
0
0
64
521
1.62
1.51
3.3
2.9
—
—
—
0
0
7
28
2.61
1.48
1.6
1.5
—
—
—
0
0
9
39
2.43
1.47
4.3
4.3
25.11
24.73
mmol/l
—
9
39
16
90
1.92
1.43
8.1
6.5
4.53
4.71
kpa
0.21
16
85
95
878
2.38
1.41
22.5
19.8
3.96
3.99
mmol/l
0.46
95
864
56
454
1.52
1.25
5.3
4.1
0.00
0.00
estimate
-0.00
12
104
94
874
2.09
1.21
22.1
19.8
139.30
139.75
mmol/l
1.07
94
864
(3020427) Coagulation factor X inhibitor [Units/volume] in Platelet poor plasma by Coagulation assay
0
34
0.00
1.18
0.0
2.4
—
0.43
—
0
19
57
468
1.50
1.18
5.2
4.2
0.00
3.13
estimate
0.50
13
96
22
147
1.63
1.13
2.6
1.7
—
—
—
0
0
5
21
2.45
1.10
1.0
1.6
—
—
—
0
0
56
467
1.45
1.02
5.3
4.1
0.00
0.00
estimate
-0.00
13
104
7
36
2.01
0.99
1.9
1.6
1.29
1.18
g/l
—
7
36
0
32
0.00
0.97
0.0
1.7
—
—
—
0
0
28
366
0.67
0.96
2.0
2.0
1.59
1.34
mmol/l
0.54
22
313
10
56
1.87
0.91
1.7
1.3
—
—
—
0
0
11
64
1.81
0.90
9.8
9.0
23.04
24.02
mmol/l
0.80
11
64
6
31
1.99
0.86
1.7
1.5
—
—
—
0
0
43
351
1.39
0.84
5.6
4.1
0.00
0.00
estimate
-0.00
11
87
20
142
1.51
0.80
4.3
3.2
7.28
2.79
e6/l
—
10
70
47
392
1.37
0.80
2.0
2.0
104.12
95.81
pmol/l
0.60
25
203
6
34
1.81
0.77
1.8
2.4
—
—
—
0
0
21
156
1.44
0.68
1.7
1.6
1021.39
1270.01
nmol/l
0.91
16
119
75
683
1.38
0.68
4.0
4.2
15.05
14.89
pmol/l
0.23
67
634
29
230
1.37
0.65
2.4
2.7
—
—
—
0
0
5
29
1.76
0.64
1.0
1.4
—
—
—
0
0
33
268
1.34
0.64
6.0
3.7
0.00
0.30
estimate
—
10
84
8
50
1.65
0.63
2.3
1.6
—
—
—
0
0
0
23
0.00
0.59
0.0
1.4
—
303.57
—
0
7
11
73
1.57
0.59
2.1
2.6
4.39
7.72
ug/l
1.02
11
63
61
546
1.30
0.58
10.5
11.8
4.17
4.17
e9/l
0.00
52
476
86
808
1.43
0.58
4.5
4.5
1.21
1.26
mmol/l
0.35
80
746
11
74
1.55
0.56
3.0
4.9
1.21
1.22
mmol/l
0.27
11
66
20
154
1.37
0.54
4.3
2.9
3.05
0.78
e6/l
0.95
11
81
85
806
1.34
0.44
5.3
5.2
1.84
1.92
mu/l
0.26
80
747
31
262
1.26
0.44
3.9
3.1
2.96
0.45
e6/l
0.89
23
193
88
840
1.37
0.42
5.1
5.2
1.48
1.45
mmol/l
0.28
83
778
0
16
0.00
0.41
0.0
1.3
—
—
—
0
0
0
17
0.00
0.41
0.0
1.1
—
3.84
—
0
11
10
71
1.45
0.41
1.5
1.6
—
—
—
0
0
88
843
1.34
0.38
5.2
5.3
4.52
4.61
mmol/l
0.36
83
785
18
149
1.25
0.30
1.3
2.7
29.76
29.86
s
0.03
18
143
11
85
1.33
0.29
9.5
12.0
24.78
25.16
mmol/l
0.22
11
85
17
141
1.25
0.28
1.2
1.2
28.41
7.35
u/ml
—
8
53
31
278
1.17
0.24
2.1
1.7
16.70
21.59
nmol/l
1.21
26
231
7
94
0.73
0.23
1.0
1.5
—
—
—
0
0
7
95
0.72
0.23
4.0
7.7
—
—
—
0
0
32
290
1.15
0.22
4.3
4.9
20.53
23.21
%
0.45
13
139
46
428
1.14
0.21
2.6
3.0
—
—
estimate
—
0
0
0
11
0.00
0.21
0.0
2.5
—
20.60
—
0
5
0
10
0.00
0.21
0.0
1.2
—
216.10
—
0
10
0
10
0.00
0.21
0.0
1.6
—
—
—
0
0
0
12
0.00
0.21
0.0
1.9
—
—
—
0
0
29
263
1.14
0.19
4.0
4.4
0.00
0.00
estimate
-0.00
11
93
88
858
1.20
0.18
6.1
6.0
2.56
2.72
mmol/l
0.86
82
797
39
364
1.12
0.16
4.8
5.5
2.51
3.28
ug/l
0.29
34
325
6
75
0.79
0.16
1.7
1.8
—
—
—
0
0
12
137
0.86
0.13
4.9
7.5
0.96
1.09
mmol/l
1.01
12
129
11
96
1.16
0.11
1.8
3.8
—
—
—
0
0
25
233
1.10
0.10
1.2
1.4
0.57
0.91
u/ml
—
8
67
12
107
1.14
0.09
2.6
1.5
—
—
—
0
0
7
68
1.03
0.08
1.3
1.8
—
—
—
0
0
19
204
0.92
0.08
3.3
3.9
1.02
1.02
kg/l
0.31
14
133
12
114
1.06
0.01
2.5
1.5
—
—
—
0
0
23
224
1.03
0.00
3.7
3.2
0.56
0.80
ug/l
1.32
12
143
83
831
0.99
0.00
6.1
5.0
5.92
5.94
mmol/l
0.06
78
772
0
8
0.00
0.00
0.0
1.3
—
—
—
0
0
0
8
0.00
0.00
0.0
1.3
—
—
—
0
0
0
8
0.00
0.00
0.0
1.3
—
—
—
0
0
0
9
0.00
0.00
0.0
1.8
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.3
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
7
0.00
-0.00
0.0
3.7
—
0.43
—
0
7
0
6
0.00
-0.00
0.0
1.3
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.4
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.3
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.3
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
-0.00
0.0
2.8
—
14.20
—
0
5
0
5
0.00
-0.00
0.0
1.4
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.3
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.1
—
8.57
—
0
7
5
52
0.96
-0.00
1.0
1.0
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.5
—
12.50
—
0
6
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: 9
Endpoint
Case Overlap
Survival Analysis
Genetic Correlations
Genetic Signals
N (Jaccard index)
HR [CI]
rg [CI]
Hits
Coloc Hits
FinRegistry
FinnGen
FinRegistry
FinnGen
FinnGen
Loading data