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. |
190 |
4. Check minimum number of eventsNone |
190 |
5. Include endpointsNone |
190 |
6. Filter based on genotype QC (FinnGen only) |
190 |
Control definitions (FinnGen only)
- Control exclude
- Q17_OTHER_CONGEN_MALFO
Extra metadata
- First used in FinnGen datafreeze
- DF12
Similar endpoints
↥List of similar endpoints to
Marfan's syndrome
based on the number of shared cases.
Similar with more cases:
- Other specified congenital malformation syndromes affecting multiple systems
- Exclusion endpoint for clefts
- Clefts and syndromes for tooth agenesis exclusion, including avohilmo
- Other congenital malformations
- Congenital malformations, deformations and chromosomal abnormalities
Similar with less cases:
None
Case counts by codes
↥
Summary Statistics
↥-FinRegistry-
This endpoint is excluded (different definition than used in FinnGen).
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 190 | 92 | 98 |
| Unadjusted period prevalence (%) | 0.04 | 0.03 | 0.04 |
| Median age at first event (years) | 35.69 | 33.84 | 37.43 |
-FinnGen-
Age distribution of first events
-FinnGen-
Year distribution of first events
-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.
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
cases
controls
unit
-log10(p)
N cases
N controls
101
311
5.80
32.75
4.5
3.0
858.6
906.6
ng/l
0.08
91
258
55
127
5.69
23.89
62.7
18.6
1.9
1.2
inr
—
5
18
(3020427) Coagulation factor X inhibitor [Units/volume] in Platelet poor plasma by Coagulation assay
26
30
9.88
21.17
6.3
2.5
0.3
0.3
u/ml
0.01
15
17
70
235
4.13
18.66
3.4
2.9
2277.9
321.5
ng/l
0.98
59
162
45
133
4.12
13.93
2.3
4.0
286.1
236.2
u/l
1.65
45
128
23
44
5.81
11.87
3.6
1.7
159.2
166.2
%
0.18
23
44
24
51
5.24
11.05
1.6
1.9
1.2
1.4
g/l
0.40
16
45
24
52
5.14
10.81
3.1
1.6
84.5
96.4
%
1.33
24
52
27
78
3.87
8.45
17.1
5.3
25.3
24.7
mmol/l
0.35
27
78
64
308
2.63
8.45
2.5
2.0
2.9
2.9
mg/l
0.03
57
271
10
11
9.54
8.16
1.2
1.5
—
—
—
0
0
23
61
4.15
8.07
23.0
7.3
24.0
24.2
mmol/l
0.13
23
54
14
25
5.97
7.66
1.4
1.5
—
—
—
0
0
62
313
2.46
7.26
2.3
1.7
2.1
1.0
mg/l
1.25
48
244
35
133
3.00
7.13
19.7
6.7
5.3
5.2
kpa
0.06
35
125
35
133
3.00
7.13
19.5
6.7
13.7
12.8
kpa
0.36
35
127
25
80
3.45
6.72
23.9
7.7
1.3
1.7
%
1.06
25
80
25
80
3.45
6.72
24.4
7.6
0.6
0.7
%
0.74
25
80
90
562
2.14
6.16
11.6
5.8
1.2
1.2
mmol/l
3.05
85
520
95
621
2.06
5.62
11.1
6.6
1.2
1.2
mmol/l
2.84
80
535
60
341
2.11
5.07
3.5
2.1
—
—
—
0
0
38
180
2.39
4.97
5.3
6.5
1.0
1.0
mmol/l
0.22
38
163
99
685
1.93
4.73
3.2
2.6
203.4
119.7
ug/l
0.65
89
646
96
683
1.82
3.99
5.1
3.8
—
—
—
0
0
71
482
1.76
3.31
3.0
3.1
—
—
—
0
0
167
1458
2.20
3.23
21.2
10.4
94.9
89.8
ml/min/173m2
2.16
146
1182
18
74
2.58
3.15
3.8
3.4
134.6
130.8
g/l
0.20
18
74
69
472
1.73
3.10
1.8
1.7
97.2
95.6
pmol/l
0.10
36
248
79
570
1.66
2.87
2.6
2.3
80.2
73.6
nmol/l
1.12
71
514
134
1127
1.64
2.48
8.2
7.3
81.3
76.7
u/l
0.34
125
1066
56
386
1.64
2.37
3.0
2.7
0.2
0.4
e6/l
0.58
46
279
21
107
2.08
2.31
3.1
2.3
83.1
67.7
ml/min/173m2
—
9
49
113
922
1.56
2.29
4.9
3.9
1172.6
18.3
e6/l
—
5
10
42
274
1.68
2.18
1.6
1.4
18.5
20.7
nmol/l
0.43
34
236
110
901
1.52
2.13
7.9
9.9
4.0
4.1
e9/l
0.15
100
787
173
1583
2.04
2.12
22.3
11.6
35.7
22.7
mg/l
3.27
142
1205
67
495
1.55
2.09
5.4
3.2
36.8
41.3
ng/l
0.12
49
292
34
212
1.74
2.07
2.4
2.6
1.9
1.9
e6/l
0.01
24
109
33
206
1.73
2.00
1.9
1.6
1132.7
1207.2
nmol/l
0.19
28
162
21
114
1.95
1.96
2.9
5.0
4.9
47.1
ug/l
0.53
11
87
8
27
3.05
1.96
1.4
1.2
—
—
—
0
0
6
16
3.84
1.95
1.0
1.1
—
—
—
0
0
23
131
1.86
1.88
4.0
3.0
—
—
—
0
0
9
35
2.65
1.82
1.2
1.4
—
—
—
0
0
17
88
2.02
1.81
1.1
1.5
—
—
—
0
0
5
13
3.92
1.72
1.0
1.7
1.0
1.0
g/l
—
5
13
8
31
2.65
1.68
1.0
1.3
—
—
—
0
0
8
31
2.65
1.68
1.0
1.3
—
—
—
0
0
11
50
2.27
1.60
1.8
1.9
—
—
—
0
0
6
20
3.06
1.59
1.0
1.2
—
—
—
0
0
14
252
0.52
1.57
1.4
2.0
1.8
1.4
%
0.61
14
230
8
33
2.49
1.55
1.3
1.2
—
—
—
0
0
9
37
2.50
1.50
2.0
2.0
0.0
0.0
g/l
—
9
37
24
149
1.70
1.50
3.0
2.7
30.0
32.7
u/l
0.20
24
122
55
424
1.42
1.32
1.7
2.6
53.0
56.6
u/l
0.52
49
403
13
69
1.95
1.32
1.2
1.3
—
—
—
0
0
9
44
2.10
1.28
2.0
1.9
37.5
39.1
g/l
—
9
38
53
411
1.40
1.23
1.2
1.3
0.5
1.2
u/ml
1.76
16
111
5
19
2.67
1.22
1.0
1.2
—
—
—
0
0
33
234
1.50
1.22
2.4
2.5
0.7
0.9
e6/l
0.10
22
130
56
443
1.37
1.15
5.4
3.3
2.3
2.3
mmol/l
0.80
50
401
7
30
2.38
1.13
3.1
1.8
—
—
—
0
0
8
40
2.04
1.13
2.8
2.4
—
—
—
0
0
166
1557
1.52
1.12
26.8
11.8
40.0
41.2
%
2.32
136
1275
7
31
2.30
1.11
1.9
2.8
23.9
25.0
mg/l
—
7
26
7
31
2.30
1.11
2.0
2.8
36.6
224.3
mg/l
—
7
26
151
1395
1.40
1.07
4.7
4.3
1.8
1.8
mu/l
0.17
142
1299
13
75
1.79
1.05
2.2
2.5
666.1
3565.3
u/l
—
6
27
29
211
1.44
0.96
1.8
1.8
—
—
—
0
0
31
229
1.42
0.94
1.5
1.7
389.7
453.4
pmol/l
0.76
25
209
16
103
1.60
0.91
5.6
3.4
4.6
4.8
pmol/l
0.51
16
93
10
57
1.80
0.85
1.8
1.7
—
—
—
0
0
11
66
1.71
0.80
1.8
1.5
—
—
—
0
0
127
1166
1.27
0.79
4.0
3.7
15.1
14.5
pmol/l
1.42
119
1073
0
26
0.00
0.79
0.0
1.3
—
7.5
—
0
17
39
312
1.31
0.75
2.0
2.2
—
—
—
0
0
9
58
1.58
0.71
1.9
2.0
—
—
—
0
0
7
42
1.69
0.69
1.0
1.2
—
1.8
—
0
8
111
1204
0.81
0.69
2.5
3.0
50.1
43.3
u/l
0.26
105
1151
8
129
0.60
0.66
1.6
1.6
—
—
—
0
0
0
22
0.00
0.59
0.0
1.7
—
13.2
—
0
22
6
36
1.69
0.57
1.0
1.3
—
20.9
—
0
6
15
204
0.71
0.56
1.2
1.6
—
—
—
0
0
9
59
1.55
0.56
3.8
3.3
43.5
52.8
%
—
9
59
19
145
1.34
0.51
1.7
1.7
—
—
—
0
0
14
102
1.40
0.49
3.9
4.2
106.3
84.1
ng/l
0.59
14
94
5
31
1.63
0.43
1.6
1.5
—
—
—
0
0
33
279
1.22
0.42
2.1
2.0
—
—
—
0
0
5
33
1.53
0.41
5.4
3.6
—
1018.0
—
0
5
0
15
0.00
0.41
0.0
1.9
—
—
—
0
0
0
15
0.00
0.41
0.0
1.9
—
—
—
0
0
12
159
0.74
0.40
1.4
2.1
—
—
—
0
0
33
383
0.83
0.39
3.0
3.9
25.6
21.6
%
—
9
165
18
143
1.29
0.38
1.7
1.6
—
—
—
0
0
22
265
0.81
0.37
1.4
1.3
10.7
5.0
u/ml
—
6
108
118
1121
1.14
0.35
4.7
3.6
11.7
9.6
mm/h
0.65
107
1044
34
389
0.85
0.34
1.7
1.6
—
—
—
0
0
12
154
0.76
0.33
8.6
7.6
—
—
—
0
0
68
735
0.88
0.32
5.4
4.2
0.0
0.0
estimate
0.00
17
133
7
55
1.28
0.30
1.0
1.1
—
—
—
0
0
7
56
1.26
0.30
1.0
1.1
—
—
—
0
0
52
569
0.88
0.29
4.5
3.0
—
—
—
0
0
13
103
1.28
0.29
1.0
1.0
—
—
—
0
0
70
746
0.90
0.25
4.2
3.1
0.0
0.0
estimate
0.00
16
124
5
38
1.32
0.23
1.4
1.7
—
—
—
0
0
5
38
1.32
0.23
1.0
1.2
—
—
—
0
0
5
39
1.29
0.23
1.4
1.6
—
—
—
0
0
25
282
0.87
0.22
1.2
1.3
16.9
24.2
iu/ml
—
5
85
0
11
0.00
0.21
0.0
1.8
—
—
—
0
0
10
123
0.80
0.21
1.3
1.9
—
—
—
0
0
0
13
0.00
0.21
0.0
1.4
—
—
—
0
0
30
270
1.13
0.20
1.2
1.5
—
—
—
0
0
0
14
0.00
0.20
0.0
2.0
—
—
—
0
0
0
14
0.00
0.20
0.0
2.0
—
—
—
0
0
0
14
0.00
0.20
0.0
2.0
—
—
—
0
0
0
14
0.00
0.20
0.0
2.0
—
—
—
0
0
25
279
0.88
0.19
1.6
2.6
0.6
0.7
ug/l
1.01
15
161
120
1237
0.92
0.19
3.2
3.5
—
—
—
0
0
6
53
1.14
0.19
1.3
1.2
—
—
—
0
0
7
60
1.17
0.18
1.3
1.4
—
—
—
0
0
9
82
1.10
0.15
1.4
1.3
—
—
—
0
0
9
106
0.84
0.13
1.3
1.3
—
—
—
0
0
145
1472
0.94
0.11
3.5
3.7
5.8
5.8
mmol/l
0.07
134
1374
40
381
1.06
0.09
4.7
3.4
0.0
0.0
estimate
0.50
15
128
160
1583
1.07
0.08
4.0
4.2
2.7
2.8
mmol/l
1.20
151
1492
6
70
0.85
0.08
2.0
2.0
—
—
—
0
0
158
1564
1.06
0.07
3.7
3.8
1.3
1.4
mmol/l
3.95
151
1474
153
1518
1.04
0.04
3.4
3.5
1.3
1.3
mmol/l
0.13
145
1422
72
732
0.97
0.03
4.1
3.0
0.0
0.0
estimate
0.00
17
131
158
1570
1.04
0.03
3.8
3.9
4.5
4.7
mmol/l
2.50
151
1487
171
1705
1.03
0.00
10.8
9.1
26.9
28.5
u/l
0.36
165
1656
5
51
0.98
0.00
1.2
2.0
—
—
—
0
0
0
8
0.00
0.00
0.0
1.5
—
—
—
0
0
0
8
0.00
0.00
0.0
1.1
—
—
—
0
0
0
8
0.00
0.00
0.0
1.6
—
—
—
0
0
0
8
0.00
0.00
0.0
2.6
—
—
—
0
0
0
8
0.00
0.00
0.0
1.0
—
—
—
0
0
0
8
0.00
0.00
0.0
2.6
—
—
—
0
0
0
8
0.00
0.00
0.0
2.6
—
—
—
0
0
0
9
0.00
0.00
0.0
2.4
—
—
—
0
0
0
7
0.00
0.00
0.0
1.0
—
17.0
—
0
7
0
9
0.00
0.00
0.0
2.4
—
—
—
0
0
0
6
0.00
0.00
0.0
2.8
—
—
—
0
0
0
5
0.00
0.00
0.0
1.2
—
11.0
—
0
5
0
7
0.00
0.00
0.0
1.4
—
—
—
0
0
0
5
0.00
0.00
0.0
1.2
—
1.2
—
0
5
0
9
0.00
0.00
0.0
2.4
—
—
—
0
0
0
6
0.00
0.00
0.0
1.2
—
7.7
—
0
6
0
6
0.00
0.00
0.0
1.8
—
—
—
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
6
0.00
0.00
0.0
1.8
—
—
—
0
0
0
7
0.00
0.00
0.0
1.9
—
—
—
0
0
0
9
0.00
0.00
0.0
2.4
—
—
—
0
0
0
9
0.00
0.00
0.0
2.8
—
16.9
—
0
9
0
7
0.00
0.00
0.0
4.3
—
114.0
—
0
7
0
7
0.00
0.00
0.0
1.0
—
—
—
0
0
0
7
0.00
0.00
0.0
1.4
—
—
—
0
0
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
0.00
0.0
1.8
—
—
—
0
0
0
6
0.00
0.00
0.0
1.8
—
—
—
0
0
0
7
0.00
0.00
0.0
1.7
—
—
—
0
0
0
6
0.00
0.00
0.0
1.2
—
13.5
—
0
6
Mortality – FinRegistry
↥This endpoint is excluded (different definition than used in FinnGen).
Relationships between endpoints
↥Index endpoint: Q17_MARFAN – Marfan's syndrome
GWS hits: -
This endpoint is excluded (different definition than used in FinnGen).