obsolete_alpha-1-antitrypsin deficiency: ['A lung disease that is characterized as a genetic disorder caused by defective production of alpha 1-antitrypsin (A1AT), leading to decreased A1AT activity in the blood and lungs, and deposition of excessive abnormal A1AT protein in liver cells. Alpha-1 antitrypsin works to protect the lungs from a naturally occuring destructive enzyme that is produced by the lungs in response to infections and toxins (such as cigarette smoke). Without enough A1AT, these enzymes slowly destroy the lung tissue causing emphysema. The symptoms include shortness of breath, wheezing, rhonchi, and rales.']
Disorders of plasma-protein metabolism, not elsewhere classified
DOID EFO Endpoint Browser PheWeb
E4_PLASMAPROT
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. |
289 |
4. Check minimum number of eventsNone |
289 |
5. Include endpointsNone |
289 |
6. Filter based on genotype QC (FinnGen only) |
261 |
Control definitions (FinnGen only)
- Control exclude
- E4_METABOLIA
Extra metadata
- Level in the ICD hierarchy
- 4
- First used in FinnGen datafreeze
- DF2
- Parent code in ICD-10
- E88
- Name in latin
- Perturbationes metabolismi proteinorum plasmaticorum non alibi classificatae
Similar endpoints
↥List of similar endpoints to
Disorders of plasma-protein metabolism, not elsewhere classified
based on the number of shared cases.
Similar with more cases:
- Other metabolic disorders
- Metabolic disorders
- Endocrine, nutritional and metabolic diseases
- Any prescribed medicine buy
- Any event in hilmo or specialist outpatient
Similar with less cases:
Case counts by codes
↥
Summary Statistics
↥-FinRegistry-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | |||
| Whole population | 1574 | 706 | 856 |
| Only index persons | 1269 | 601 | 668 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.02 | 0.02 | 0.02 |
| Only index persons | 0.02 | 0.02 | 0.03 |
| Median age at first event (years) | |||
| Whole population | 46.52 | 47.95 | 45.18 |
| Only index persons | 46.35 | 47.73 | 45.10 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 261 | 132 | 129 |
| Unadjusted period prevalence (%) | 0.05 | 0.05 | 0.06 |
| Median age at first event (years) | 53.95 | 53.44 | 54.47 |
-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
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
- 266
- Matched controls
- 2660
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
E88.0
ICD-10 Finland
Disorders of plasma-protein metabolism, not elsewhere classified
+∞
307.7
265
*
J44.8
ICD-10 Finland
Other specified chronic obstructive pulmonary disease
13.6
85.0
97
108
R03BB04
ATC
tiotropium bromide; inhalant
11.9
73.1
90
110
203
Kela drug reimbursment
Chronic asthma and similar chronic obstructive pulmonary diseases
7.8
62.1
131
295
GD1DD
NOMESCO Finland
High resolution CT examination of lungs
12.7
61.7
68
70
GD1AD
NOMESCO Finland
Thorax CT examination
11.5
53.9
63
70
J44.0
ICD-10 Finland
Chronic obstructive pulmonary disease with acute lower respiratory infection
14.9
45.4
43
34
J45.1
ICD-10 Finland
Nonallergic asthma
9.0
45.4
64
90
R03AK06
ATC
salmeterol and fluticasone; inhalant
6.4
43.3
94
209
J45.9
ICD-10 Finland
Asthma, unspecified
5.6
39.9
107
286
R03DA04
ATC
theophylline; systemic, rectal
10.6
38.0
45
50
J44.1
ICD-10 Finland
Chronic obstructive pulmonary disease with acute exacerbation, unspecified
15.4
37.2
34
25
XG410
NOMESCO Finland
Flow-volume spirometry
11.0
35.1
40
42
XG412
NOMESCO Finland
Flow-volume spirometry with bronchospasmolysis
8.6
32.9
46
63
R03AL09
ATC
formoterol, glycopyrronium bromide and beclometasone; inhalant
11.1
31.9
36
37
R03AK03
ATC
[U] fenoterol and ipratropium bromide
10.6
31.7
37
40
R03AK08
ATC
formoterol and beclometasone; inhalant
9.8
31.3
39
46
GD1ED
NOMESCO Finland
Extensive high resolution CT examination of lungs
13.4
30.4
30
25
JN1AE
NOMESCO Finland
Ultrasound examination of upper part of abdomen
6.2
30.1
60
120
UJD10
NOMESCO Finland
Esophagoscopy, gastroscopy and duodenoscopy
4.2
28.8
117
418
GD1AA
NOMESCO Finland
Thorax X-ray examination
4.2
28.4
175
834
R03AC02
ATC
salbutamol; inhalant
4.9
28.1
208
1126
UGC12
NOMESCO Finland
Flexible bronchoscopy
6.4
27.9
52
97
H02AB06
ATC
prednisolone; systemic
4.1
27.1
177
868
R03BA05
ATC
fluticasone; inhalant
4.3
26.4
92
292
127
Kela drug reimbursment
Transplant complication
37.4
26.3
33
10
J43.9
ICD-10 Finland
Emphysema, unspecified
28.6
26.0
35
14
R03DC03
ATC
montelukast; oral
4.4
25.6
83
249
NK6QA
NOMESCO Finland
Measurement of bone density from two or more locations with X-ray
6.8
25.2
43
73
J44.9
ICD-10 Finland
Chronic obstructive pulmonary disease, unspecified
8.8
24.8
33
42
R03AC12
ATC
salmeterol; inhalant
8.2
24.8
35
48
J45.0
ICD-10 Finland
Predominantly allergic asthma
5.5
24.7
55
121
J01MA12
ATC
levofloxacin; systemic
4.1
24.2
86
275
L04AA06
ATC
mycophenolic acid; systemic
26.7
24.1
33
14
Z94.2
ICD-10 Finland
Lung transplant status
137.4
24.0
25
*
R03BA02
ATC
budesonide; inhalant
4.1
23.2
84
271
TGD04
NOMESCO Finland
Needle biopsy of the lungs in bronchoscopy
68.6
22.3
25
*
R03AC03
ATC
terbutaline; inhalant
4.6
22.2
63
169
R03BA01
ATC
beclometasone; inhalant
4.4
22.1
68
194
R03AK07
ATC
formoterol and budesonide; inhalant
3.7
22.0
95
345
J47
ICD-10 Finland
Bronchiectasis
24.9
20.9
29
13
GDG10
NOMESCO Finland
Bilateral transplantation of lung
227.0
20.9
21
*
J18.9
ICD-10 Finland
Pneumonia, unspecified
3.5
20.8
101
394
FM1EE
NOMESCO Finland
Extensive structural and functional ultrasound examination of heart
3.6
20.2
92
343
R91
ICD-10 Finland
Abnormal findings on diagnostic imaging of lung
4.9
20.1
50
120
R06.0
ICD-10 Finland
Dyspnoea
3.4
20.1
103
414
R03BA08
ATC
ciclesonide; inhalant
4.8
19.2
49
120
C03CA01
ATC
furosemide; systemic
3.4
18.5
90
348
K74.6
ICD-10 Finland
Other and unspecified cirrhosis of liver
22.0
18.1
26
13
J43.1
ICD-10 Finland
Panlobular emphysema
+∞
17.9
17
*
E88.9
ICD-10 Finland
Metabolic disorder, unspecified
192.3
17.7
18
*
J96.1
ICD-10 Finland
Chronic respiratory failure
20.4
17.7
26
14
XG470
NOMESCO Finland
Measurement of diffusion capastity of the lungs
8.4
17.7
24
31
R03AC13
ATC
formoterol; inhalant
6.4
17.1
30
52
GD1PA
NOMESCO Finland
X-ray examination of the lungs in one projection
4.6
17.0
45
113
E88.8
ICD-10 Finland
Other specified metabolic disorders
+∞
16.8
16
*
TGC00
NOMESCO Finland
Bronchial lavation
7.9
16.8
24
33
GD1UA
NOMESCO Finland
Thorax X-ray examination outside radiological department
3.7
16.7
65
216
C08CA02
ATC
felodipine; oral
5.5
16.4
34
69
FM1AE
NOMESCO Finland
Standard cardiac ultrasound examination
3.6
16.0
64
216
J43.8
ICD-10 Finland
Other emphysema
64.1
16.0
18
*
L04AD01
ATC
ciclosporin; systemic
16.1
15.7
25
17
JJ2AT
NOMESCO Finland
Biopsy of liver with ultrasound guidance
19.2
15.4
23
13
J45.8
ICD-10 Finland
Mixed asthma
11.9
15.4
28
26
L04AD02
ATC
tacrolimus; systemic
48.0
15.3
18
*
H02AB04
ATC
methylprednisolone; systemic
3.6
15.0
58
191
JJ1LE
NOMESCO Finland
Ultrasound elastography of liver
26.9
14.9
20
8
R03BB01
ATC
ipratropium bromide; inhalant
6.8
14.8
24
38
GD1BT
NOMESCO Finland
Biopsy of lung with X-ray guidance
158.3
14.6
15
*
R02
ICPC
Shortness of breath/dyspnoea
3.6
14.3
55
180
C10AA03
ATC
pravastatin; oral
5.2
13.7
30
64
GD1CD
NOMESCO Finland
Thorax extensive CT-examination
22.6
13.5
19
9
Z01.8
ICD-10 Finland
Other specified special examinations
2.9
13.5
81
346
A12AX
ATC
Calcium, combinations with vitamin D and/or other drugs
2.7
13.5
106
522
H02AB07
ATC
prednisone; oral
3.6
13.4
50
160
J01CR02
ATC
amoxicillin and beta-lactamase inhibitor; systemic
2.7
13.2
174
1098
J01MA14
ATC
moxifloxacin; systemic
4.0
13.1
41
116
FN1AC
NOMESCO Finland
Angiography of heart and/or coronary arteries
3.1
13.1
67
261
WX302
NOMESCO Finland
Thoracal epidural anesthesy
5.8
13.0
25
47
FXA00
NOMESCO Finland
Total cardiopulmonary bypass in normothermia or moderate hypothermia at concurrent surgical procedure
6.2
13.0
23
40
TFB00
NOMESCO Finland
Cathetrisation of pulmonal artery
21.3
12.6
18
9
R03AL06
ATC
olodaterol and tiotropium bromide; inhalant
13.3
12.4
21
17
R03AL01
ATC
fenoterol and ipratropium bromide; inhalant
6.4
12.3
21
35
G47.3
ICD-10 Finland
Sleep apnoea
2.7
12.2
88
411
JN3AE
NOMESCO Finland
Abdominal ultrasound examination
3.3
12.2
53
187
J45
ICD-10 Finland
Asthma
3.9
12.1
39
113
FM1BE
NOMESCO Finland
Cardiac ultrasound examination through oesophagus
4.5
11.7
30
73
TPH15
NOMESCO Finland
Insertion of central venous catheter through external or internal jugular vein
4.6
11.6
29
69
JN3AD
NOMESCO Finland
Abdominal CT examination
3.3
11.6
49
170
C03DA01
ATC
spironolactone; oral
3.5
11.1
42
135
J15.9
ICD-10 Finland
Bacterial pneumonia, unspecified
4.0
10.9
33
91
J01EE01
ATC
sulfamethoxazole and trimethoprim; systemic
4.4
10.7
28
69
R5140
NOMESCO Finland
Monitoring the use of the aid
3.2
10.6
47
167
J20.9
ICD-10 Finland
Acute bronchitis, unspecified
2.7
10.5
69
305
A02BC02
ATC
pantoprazole; systemic
2.5
10.5
193
1358
R06.2
ICD-10 Finland
Wheezing
4.9
10.5
24
53
UJF32
NOMESCO Finland
Coloscopy
2.5
10.4
82
396
Z71.3
ICD-10 Finland
Dietary counselling and surveillance
4.8
10.2
24
54
Z50.1
ICD-10 Finland
Other physical therapy
4.8
10.2
24
54
J46
ICD-10 Finland
Status asthmaticus
9.3
10.0
20
23
R28
ICPC
Limited function/disability (R)
27.2
9.9
13
5
R06AE07
ATC
cetirizine; oral
2.3
9.8
135
830
J01AA02
ATC
doxycycline; systemic
2.8
9.7
218
1652
SPAT1254
SPAT
Administration of medicine
3.0
9.6
46
171
R03AK10
ATC
vilanterol and fluticasone furoate; inhalant
4.3
9.6
26
66
J93.1
ICD-10 Finland
Other spontaneous pneumothorax
+∞
9.4
9
*
TPH04
NOMESCO Finland
Cathetrisation of vein
2.6
9.2
66
303
GD1BD
NOMESCO Finland
Thorax extensive CT-examination
4.0
9.1
27
73
R03AL08
ATC
vilanterol, umeclidinium bromide and fluticasone furoate; inhalant
10.0
8.9
17
18
Z03.5
ICD-10 Finland
Observation for other suspected cardiovascular diseases
3.4
8.8
33
105
R96
ICPC
Asthma
3.3
8.7
36
122
K76.0
ICD-10 Finland
Fatty (change of) liver, not elsewhere classified
8.7
8.7
18
22
ZX108
NOMESCO Finland
Inhalation
20.8
8.5
12
6
DM1AA
NOMESCO Finland
Paranasal sinuses X-ray examination without contrast
4.7
8.5
20
45
GD1QA
NOMESCO Finland
Supine thorax X-ray examination
2.8
8.5
48
195
R05CB01
ATC
acetylcysteine; inhalant, oral
13.4
8.5
14
11
XX4BW, ,
NOMESCO Finland
92.9
8.5
9
*
TPH07
NOMESCO Finland
Cathetrisation of artery
3.1
8.4
37
131
R81
ICPC
Pneumonia
5.0
8.2
18
38
J43.2
ICD-10 Finland
Centrilobular emphysema
34.5
8.1
10
*
KA1MN
NOMESCO Finland
Glomerular filtration rate (GFR) Isotope mesurement
34.5
8.1
10
*
I50.9
ICD-10 Finland
Heart failure, unspecified
3.2
8.1
35
122
I85.9
ICD-10 Finland
Oesophageal varices without bleeding
22.8
8.1
11
5
WX872
NOMESCO Finland
Intensive care
4.2
8.1
22
56
WW200
NOMESCO Finland
Immunization
7.0
8.0
19
29
J01FA10
ATC
azithromycin; systemic
2.1
8.0
170
1204
R95
ICPC
Chron obstructive pulmonary disease
6.7
7.9
19
30
R01AD09
ATC
mometasone; nasal
2.1
7.9
136
891
FB1BD
NOMESCO Finland
Extensive CT examination of arteria pulmonalis
3.4
7.8
29
92
M05BA04
ATC
alendronic acid; oral
3.6
7.8
27
82
Z31.5
ICD-10 Finland
Genetic counselling
3.6
7.7
26
77
XG474
NOMESCO Finland
Exhalation nntrogen oxide
7.1
7.7
18
27
XG466
NOMESCO Finland
Sleep oxymetry
7.1
7.7
18
27
Z94.4
ICD-10 Finland
Liver transplant status
82.3
7.5
8
*
A02BC05
ATC
esomeprazole; systemic
2.0
7.4
116
729
JJC00
NOMESCO Finland
Allogenic transplantation of liver
+∞
7.3
7
*
2776A
ICD-9 Finland
Other and unspecified disorders of metabolism, Other deficiencies of circulating enzymes[DEFECTUS ALFA1-ANTITRYPSINI]
+∞
7.3
7
*
A07AA02
ATC
nystatin; oral
3.8
7.3
23
65
JL5BG
NOMESCO Finland
MRI examinaiton of bile and pancreas ducts with high intesity magnet
7.7
7.3
16
22
K44.9
ICD-10 Finland
Diaphragmatic hernia without obstruction or gangrene
3.3
7.3
29
96
PD4DE
NOMESCO Finland
Lower extremity artery ultrasound examination with Doppler method
16.3
7.3
11
7
ZX109
NOMESCO Finland
Instruction on medicine inhalation technique
16.3
7.3
11
7
JN1BG
NOMESCO Finland
MRI examination of upper part of abodmen with high intensity magnet
16.3
7.3
11
7
Z03.9
ICD-10 Finland
Observation for suspected disease or condition, unspecified
2.4
7.3
58
278
R03AK04
ATC
salbutamol and sodium cromoglicate; inhalant
30.9
7.2
9
*
R4190
NOMESCO Finland
Nutritional therapy
4.4
7.1
18
43
M05BX04
ATC
denosumab; parenteral
4.1
7.1
20
52
J09
ICD-10 Finland
Influenza due to identified zoonotic or pandemic influenza virus
7.9
7.0
15
20
R07.4
ICD-10 Finland
Chest pain, unspecified
2.1
6.9
77
424
R04.2
ICD-10 Finland
Haemoptysis
6.0
6.9
18
32
J30.10
ICD-10 Finland
Allergic rhinitis due to pollen
3.4
6.9
25
78
XQ858
NOMESCO Finland
Oxygen partial pressure measurement
17.2
6.8
10
6
5AB14, ,
NOMESCO Finland
41.1
6.8
8
*
R5110
NOMESCO Finland
Evaluation of the need for aids, the testing, fitting and choice of the aid, instruction in use and delivery of it
2.5
6.8
45
198
WZC00
NOMESCO Finland
Treatment plan or consultation
2.0
6.7
103
637
C09AA05
ATC
ramipril; oral
2.2
6.7
66
346
Z03.89
ICD-10 Finland
Observation for other suspected diseases and conditions
2.5
6.6
47
213
PA6DE
NOMESCO Finland
Neck artery ultrasound examination with Doppler method
6.0
6.6
17
30
SPAT1256
SPAT
Intramuscular and subcutaneous injection
2.0
6.6
116
753
C07AB07
ATC
bisoprolol; oral
1.9
6.4
117
766
J01MA02
ATC
ciprofloxacin; systemic
2.0
6.4
104
655
R06AX26
ATC
fexofenadine; oral
3.2
6.3
26
88
GD1RA
NOMESCO Finland
Dynamic X-ray examination of respiratory organs with convetional X-ray picture
+∞
6.3
6
*
R03BC03
ATC
nedocromil; inhalant
3.1
6.3
27
94
R50.9
ICD-10 Finland
Fever, unspecified
2.4
6.2
47
219
E78.5
ICD-10 Finland
Hyperlipidaemia, unspecified
3.9
6.2
18
48
K08.1
ICD-10 Finland
Loss of teeth due to accident, extraction or local periodontal disease
2.6
6.1
38
161
AN1
HP
Coronary angiography
3.2
6.1
24
79
DM1QA
NOMESCO Finland
Paranasal sinuses X-ray examination in one projection
3.9
6.0
18
49
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
74
180
5.31
29.95
2.4
1.5
—
—
—
0
0
47
74
7.50
29.71
6.0
3.2
—
—
—
0
0
215
1169
5.38
29.49
14.6
7.3
13.51
11.78
umol/l
0.76
210
1113
38
47
9.27
29.38
4.3
1.4
—
—
—
0
0
40
54
8.54
28.83
2.5
1.8
24.54
25.37
mmol/l
0.43
40
54
38
53
8.20
26.59
32.3
5.7
224.58
125.50
iu/ml
—
12
6
57
126
5.48
25.46
4.1
2.9
2.46
1.86
mmol/l
0.54
45
99
29
30
10.73
25.46
5.0
1.5
—
—
—
0
0
89
287
4.16
24.78
2.1
2.2
23.43
24.48
%
0.23
82
273
91
308
3.97
23.53
2.2
2.1
2.34
2.37
g/l
0.16
86
288
176
925
3.67
22.86
10.3
4.6
36.35
36.10
g/l
0.21
170
874
30
11
30.51
22.81
3.9
1.5
38.33
68.98
ug/l
1.48
30
11
90
314
3.82
22.11
3.9
2.1
—
—
—
0
0
76
242
4.00
21.21
8.1
5.4
1.01
1.04
mmol/l
0.60
69
224
127
565
3.39
21.20
4.3
3.2
896.49
1018.22
ng/l
0.19
113
481
184
1033
3.53
20.71
15.0
6.8
1.21
1.21
mmol/l
0.89
167
887
30
45
7.39
19.57
4.4
1.5
—
—
—
0
0
69
221
3.87
18.92
14.4
9.4
1.70
1.01
mmol/l
0.84
61
184
33
57
6.47
18.87
2.9
3.1
8.23
8.34
kpa
0.11
33
57
36
68
5.97
18.83
4.6
1.8
—
—
—
0
0
30
47
7.07
18.80
4.6
1.9
—
—
—
0
0
35
65
6.05
18.62
4.5
1.8
—
—
—
0
0
31
51
6.75
18.56
4.4
1.6
—
—
—
0
0
73
246
3.71
18.55
4.0
1.9
—
—
—
0
0
208
1314
3.67
18.25
16.2
10.4
3.91
3.81
e9/l
0.33
195
1153
25
34
8.01
17.69
4.6
1.6
—
—
—
0
0
164
926
3.01
16.97
13.7
6.3
1.21
1.21
mmol/l
0.30
154
852
25
38
7.16
16.05
1.8
1.7
137.72
132.44
g/l
0.35
18
32
66
235
3.41
15.16
4.1
2.0
—
—
—
0
0
110
548
2.72
13.70
10.9
3.9
90.78
92.55
%
0.31
105
540
25
25
10.91
13.30
5.2
1.7
—
—
—
0
0
76
320
2.92
12.95
5.6
3.0
0.98
1.46
e6/l
0.34
52
161
127
698
2.57
12.74
3.6
2.5
62.81
71.85
u/l
0.42
119
649
70
284
2.99
12.73
19.9
6.3
104.43
104.35
mmol/l
0.05
70
284
21
34
6.62
12.67
1.2
1.2
—
—
—
0
0
70
285
2.98
12.64
4.0
3.1
7.46
7.95
umol/l
0.12
62
251
227
1677
3.41
12.23
10.8
4.2
12.25
10.27
mm/h
1.01
222
1575
18
11
17.44
11.84
4.7
1.4
—
—
—
0
0
27
60
4.90
11.71
1.1
1.2
—
—
—
0
0
99
499
2.57
11.71
2.7
1.6
1.35
1.37
mg/l
0.02
79
379
188
1279
2.60
11.48
13.7
4.7
6.50
6.46
mmol/l
0.09
179
1205
26
57
4.95
11.45
1.2
1.4
314.77
294.25
ug/g
0.13
13
33
107
567
2.48
11.31
9.1
2.6
367.78
336.57
umol/l
2.17
96
505
152
960
2.36
10.62
4.6
2.3
77.18
75.23
nmol/l
0.37
143
862
26
61
4.62
10.56
1.1
1.2
386.47
238.50
u/ml
0.71
17
40
(3020427) Coagulation factor X inhibitor [Units/volume] in Platelet poor plasma by Coagulation assay
23
49
5.04
10.45
4.6
2.8
0.32
0.33
iu/ml
—
8
32
217
1633
2.79
9.93
6.3
3.1
63.96
46.32
u/l
2.42
212
1548
76
365
2.52
9.71
5.1
2.8
0.58
0.81
e6/l
0.67
52
205
105
593
2.27
9.23
8.2
2.9
0.12
0.40
e6/l
2.77
84
436
21
31
7.26
9.04
1.3
1.2
—
—
—
0
0
15
12
13.16
8.98
1.1
1.1
—
—
—
0
0
24
62
4.16
8.63
1.5
1.3
—
—
—
0
0
65
307
2.48
8.50
1.9
1.9
1.56
1.43
%
0.95
55
272
22
54
4.35
8.44
1.8
1.6
—
—
—
0
0
32
105
3.33
8.17
1.9
1.7
—
—
—
0
0
22
56
4.19
8.06
1.4
1.3
161.33
153.38
au/ml
—
6
17
20
48
4.42
7.88
2.5
1.6
—
—
—
0
0
20
34
6.27
7.85
1.6
1.2
—
—
—
0
0
20
34
6.27
7.85
1.3
1.3
3.29
2.00
u/ml
—
7
14
94
536
2.17
7.84
2.9
2.0
3.27
2.97
mg/l
0.45
83
467
167
1183
2.11
7.79
5.7
3.4
34.29
0.00
estimate
0.49
51
257
164
1166
2.06
7.42
5.7
3.4
0.00
0.00
estimate
-0.00
49
254
11
7
16.31
7.29
6.4
2.4
—
—
—
0
0
166
1193
2.04
7.20
5.7
3.4
0.00
1.23
estimate
0.50
51
246
189
1426
2.12
7.15
8.3
3.9
53.71
45.95
e6/l
—
7
22
152
1062
2.01
7.10
3.5
2.7
157.94
125.43
ug/l
0.90
145
996
108
670
2.03
7.06
3.8
3.6
7.87
5.24
mg/mmol
0.30
72
406
18
32
5.95
6.89
1.3
1.3
2.50
4.24
u/ml
—
8
17
(40770918) von Willebrand factor (vWf).activity actual/normal in Platelet poor plasma by Immunoassay
10
7
14.77
6.45
1.2
1.1
164.70
155.43
%
—
10
7
17
32
5.60
6.27
1.9
1.7
17.55
16.99
%
0.27
17
32
16
30
5.60
5.95
3.2
2.2
—
—
—
0
0
11
12
9.50
5.84
2.5
1.2
101.73
108.83
%
0.20
11
12
16
32
5.25
5.66
1.2
1.1
—
—
—
0
0
119
813
1.84
5.50
5.5
3.0
42.66
111.98
ng/l
0.44
100
534
8
5
16.42
5.44
3.1
3.4
0.60
0.61
mmol/l
—
8
5
9
8
11.59
5.33
1.0
1.0
—
—
—
0
0
46
229
2.22
5.20
2.8
5.3
242.70
236.12
u/l
0.11
46
219
(3011547) Coagulation factor VII activity actual/normal in Platelet poor plasma by Coagulation assay
8
6
13.69
5.11
1.1
1.0
95.63
133.67
%
—
8
6
20
66
3.20
5.06
1.6
1.3
—
—
—
0
0
14
28
5.22
5.02
3.5
2.3
—
—
—
0
0
62
353
1.99
4.93
6.3
3.5
1008.69
401.25
ng/l
0.98
51
248
10
13
7.94
4.89
2.1
1.8
3218.00
28537.13
e6/l
—
5
8
14
29
5.04
4.88
1.4
1.3
—
—
—
0
0
18
59
3.20
4.61
1.4
1.2
—
—
—
0
0
13
29
4.66
4.31
1.9
1.3
—
—
—
0
0
29
130
2.38
4.17
1.9
1.5
—
—
—
0
0
102
711
1.70
4.13
6.9
3.2
2.31
2.36
mmol/l
2.31
95
648
10
18
5.73
4.01
2.0
1.3
—
—
—
0
0
11
23
4.94
3.91
3.1
2.5
—
—
—
0
0
84
565
1.71
3.83
1.3
1.3
0.61
1.32
u/ml
1.10
25
169
7
8
8.95
3.79
1.1
1.3
—
—
—
0
0
72
465
1.75
3.78
1.4
1.4
19.36
31.12
iu/ml
0.78
21
137
203
1725
1.75
3.65
5.4
4.1
14.77
14.74
pmol/l
0.05
189
1576
40
216
2.00
3.65
3.1
5.3
4.26
57.58
ug/l
0.81
32
176
62
390
1.77
3.55
1.8
1.7
470.33
441.01
pmol/l
0.35
52
334
9
17
5.44
3.54
1.9
1.3
—
—
—
0
0
48
280
1.87
3.50
4.2
4.3
32.15
31.18
%
0.26
39
190
135
1044
1.60
3.47
4.2
2.9
—
—
estimate
—
0
0
10
22
4.68
3.46
2.1
1.3
—
—
—
0
0
35
184
2.04
3.44
4.2
2.0
0.17
0.18
e6/l
0.02
35
173
179
1485
1.63
3.39
3.5
3.1
—
—
—
0
0
24
109
2.32
3.37
2.5
2.2
21.30
4.26
iu/ml
—
6
32
14
48
3.02
3.35
2.1
1.6
—
—
—
0
0
79
540
1.66
3.33
3.6
2.4
—
—
—
0
0
7
11
6.50
3.20
1.1
1.3
7.86
8.36
u/l
—
7
11
10
25
4.11
3.12
5.4
1.7
11.70
10.80
mmol/l
—
10
25
16
62
2.68
3.10
2.8
2.3
—
—
—
0
0
35
192
1.95
3.07
6.1
3.5
5.82
5.77
kpa
0.10
35
187
94
683
1.58
3.06
5.3
3.5
0.00
0.00
estimate
-0.00
49
243
15
57
2.73
3.02
2.3
1.9
—
—
—
0
0
12
37
3.35
2.97
1.5
1.4
—
—
—
0
0
12
37
3.35
2.97
1.5
1.4
—
—
—
0
0
118
914
1.52
2.84
2.3
1.9
93.95
99.60
pmol/l
0.70
72
463
247
2278
2.18
2.82
33.1
13.5
18.21
22.91
mg/l
2.66
232
1815
9
23
4.01
2.80
1.1
1.1
—
—
—
0
0
91
668
1.55
2.79
6.1
2.8
0.00
0.12
estimate
0.52
44
209
16
66
2.52
2.76
1.2
1.2
—
—
—
0
0
7
14
5.10
2.74
1.6
1.6
10.51
11.06
umol/l
—
7
14
7
14
5.10
2.74
1.6
1.2
—
—
—
0
0
7
14
5.10
2.74
2.3
1.3
—
—
—
0
0
9
24
3.84
2.69
1.1
1.2
—
—
—
0
0
16
67
2.48
2.69
1.1
1.1
—
5.62
—
0
10
12
43
2.88
2.68
1.1
1.1
—
22.91
—
0
13
33
187
1.87
2.64
6.2
3.5
2.13
2.21
mmol/l
0.04
28
159
9
25
3.69
2.60
1.6
2.1
—
—
—
0
0
9
25
3.69
2.60
1.6
2.1
—
—
—
0
0
9
25
3.69
2.60
1.6
2.1
—
—
—
0
0
11
37
3.06
2.52
1.5
1.9
5.08
6.20
pmol/l
0.77
11
37
239
2195
1.88
2.51
28.1
12.8
83.37
84.30
ml/min/173m2
0.29
234
2029
9
27
3.41
2.41
1.2
2.9
2.62
2.50
nmol/l
—
9
27
6
12
5.09
2.41
1.8
1.8
12.33
14.92
u/l
—
6
12
14
58
2.49
2.41
1.4
1.3
—
—
—
0
0
8
22
3.72
2.38
2.3
1.6
—
—
—
0
0
8
22
3.72
2.38
1.3
1.2
—
—
—
0
0
7
17
4.20
2.37
1.7
1.5
283.29
838.22
u/l
—
7
17
11
39
2.90
2.37
2.3
1.6
—
—
—
0
0
227
2066
1.67
2.32
6.5
4.9
1.80
1.89
mu/l
0.53
212
1906
12
47
2.63
2.30
1.4
2.0
—
—
—
0
0
8
23
3.55
2.29
1.1
1.2
—
—
—
0
0
8
23
3.55
2.29
1.1
1.2
—
—
—
0
0
6
13
4.69
2.28
1.7
2.6
—
—
—
0
0
6
13
4.69
2.28
1.7
2.6
—
—
—
0
0
6
13
4.69
2.28
1.7
2.6
—
—
—
0
0
6
13
4.69
2.28
1.7
2.6
—
—
—
0
0
35
213
1.74
2.24
3.5
2.9
29.44
33.93
u/l
0.40
27
185
17
80
2.20
2.24
1.3
1.3
—
—
—
0
0
9
30
3.07
2.17
1.2
1.2
—
—
—
0
0
34
208
1.73
2.14
3.2
3.0
—
—
—
0
0
8
25
3.27
2.11
1.1
1.0
—
—
—
0
0
79
593
1.47
2.11
2.1
1.5
18.76
20.14
nmol/l
0.40
69
495
25
140
1.87
2.09
33.0
8.8
93.97
93.74
%
0.10
25
140
5
10
5.07
2.08
1.2
1.2
—
—
—
0
0
7
20
3.57
2.07
1.0
1.3
123.43
112.40
pmol/l
—
7
20
47
317
1.59
2.05
1.9
1.6
1154.37
1232.48
nmol/l
0.26
38
246
29
172
1.77
2.03
5.2
2.9
4.28
4.72
kpa
0.94
29
167
7
21
3.39
1.98
1.6
1.6
—
—
—
0
0
7
21
3.39
1.98
1.1
1.2
—
—
—
0
0
5
11
4.61
1.95
1.4
1.2
10.55
7.92
ug/l
—
5
11
233
2157
1.65
1.94
5.4
4.0
1.27
1.28
mmol/l
0.09
225
2005
6
16
3.81
1.94
3.0
2.3
1.23
1.20
mmol/l
—
6
16
6
16
3.81
1.94
3.0
2.3
107.50
105.56
mmol/l
—
6
16
7
22
3.24
1.89
1.6
1.6
—
—
—
0
0
7
22
3.24
1.89
1.6
1.6
—
—
—
0
0
7
22
3.24
1.89
1.6
1.6
—
—
—
0
0
7
22
3.24
1.89
1.6
1.6
—
—
—
0
0
7
22
3.24
1.89
1.6
1.6
—
—
—
0
0
18
95
1.96
1.80
1.2
1.4
215.30
256.31
miu/ml
—
5
45
58
422
1.48
1.79
1.5
1.3
11.01
10.81
u/ml
0.01
21
183
6
18
3.38
1.75
5.3
2.6
0.67
0.94
index
—
6
18
5
13
3.90
1.72
1.0
3.8
65.80
169.23
nmol/l
—
5
13
5
13
3.90
1.72
1.2
1.2
—
—
—
0
0
5
14
3.62
1.62
2.8
1.2
—
—
—
0
0
253
2416
1.97
1.60
23.5
11.4
33.26
27.11
u/l
5.96
253
2358
13
64
2.08
1.57
3.5
3.3
2.29
2.48
index
—
7
40
110
916
1.34
1.54
5.9
3.2
0.07
0.01
estimate
0.37
41
218
5
15
3.38
1.53
2.8
1.3
—
—
—
0
0
7
28
2.54
1.46
1.0
1.0
—
—
—
0
0
210
1935
1.41
1.46
35.0
17.0
13.66
13.53
%
0.71
210
1911
230
2155
1.50
1.45
6.0
4.7
5.78
5.85
mmol/l
0.43
211
1989
18
103
1.80
1.45
4.6
2.3
0.95
1.49
%
2.14
18
103
240
2270
1.59
1.43
6.5
4.7
4.66
4.71
mmol/l
0.27
232
2132
18
104
1.78
1.41
4.6
2.3
0.57
0.62
%
0.34
18
104
113
958
1.31
1.36
2.3
1.8
1.30
1.34
mmol/l
0.26
94
817
5
17
2.98
1.36
1.4
1.1
122.80
31.25
mg/l
—
5
12
5
18
2.81
1.29
1.4
2.4
—
—
—
0
0
5
19
2.66
1.22
2.0
1.9
16.80
35.46
mg/l
—
5
13
24
158
1.57
1.19
1.2
1.4
336.80
124.68
u/ml
—
9
68
238
2263
1.49
1.19
6.4
4.6
1.49
1.46
mmol/l
0.39
230
2114
5
20
2.53
1.15
1.4
1.6
13.40
17.51
ug/l
—
5
20
58
458
1.34
1.13
1.4
1.6
—
—
—
0
0
14
81
1.77
1.11
2.9
1.8
13021.40
6283.40
u/l
—
5
29
16
98
1.67
1.06
1.9
1.8
17.83
3.31
mg/l
1.21
16
69
9
49
1.87
0.99
1.7
2.0
—
—
—
0
0
0
31
0.00
0.97
0.0
1.3
—
—
—
0
0
6
118
0.50
0.96
1.7
1.4
—
—
—
0
0
13
78
1.70
0.93
2.0
1.6
—
—
—
0
0
224
2132
1.32
0.89
8.0
5.4
38.81
38.16
mmol/mol
0.61
213
2006
8
43
1.89
0.88
1.4
1.6
98.07
49.63
ug/l
—
8
43
22
300
0.71
0.79
2.5
2.1
3.10
3.50
ratio
1.33
14
252
0
27
0.00
0.78
0.0
1.2
—
178.25
—
0
27
238
2294
1.36
0.77
6.9
5.3
2.65
2.79
mmol/l
1.85
231
2147
18
125
1.47
0.75
1.0
1.0
—
—
—
0
0
5
25
2.02
0.73
1.2
1.2
—
—
—
0
0
7
40
1.77
0.72
4.1
2.6
3.71
163.89
ug/min
—
7
18
5
26
1.94
0.71
1.2
1.1
—
—
—
0
0
16
112
1.46
0.65
5.1
4.0
24.76
24.46
mmol/l
0.14
16
112
57
661
0.82
0.61
3.4
4.5
24.57
21.65
%
0.71
26
311
255
2500
1.48
0.57
43.6
20.8
91.56
90.74
fl
2.12
255
2475
11
73
1.53
0.57
4.5
1.4
12.82
10.35
g/l
0.42
11
68
23
177
1.33
0.57
2.5
2.4
49.85
69.29
ml/min/173m2
1.31
13
70
5
89
0.55
0.57
2.6
1.3
30.36
22.87
iu/l
—
5
72
255
2501
1.47
0.56
46.5
21.2
40.64
40.95
%
0.37
255
2475
12
169
0.70
0.54
2.0
2.0
—
—
—
0
0
255
2503
1.45
0.53
44.1
21.0
136.03
137.49
g/l
0.75
255
2477
10
68
1.49
0.47
4.5
1.7
3.19
0.58
g/l
—
10
61
22
274
0.79
0.46
1.8
2.0
—
—
—
0
0
0
15
0.00
0.41
0.0
2.3
—
6.97
—
0
15
0
16
0.00
0.41
0.0
1.3
—
—
—
0
0
0
16
0.00
0.41
0.0
1.9
—
—
—
0
0
0
16
0.00
0.41
0.0
1.9
—
—
—
0
0
254
2500
1.35
0.41
43.9
20.9
246.89
248.73
e9/l
0.17
254
2461
0
17
0.00
0.41
0.0
2.1
—
—
—
0
0
0
17
0.00
0.41
0.0
1.3
—
—
—
0
0
0
18
0.00
0.40
0.0
1.1
—
33.21
—
0
11
0
18
0.00
0.40
0.0
1.0
—
616.55
—
0
11
57
515
1.14
0.33
4.1
3.5
1.02
1.02
kg/l
0.55
45
344
11
142
0.76
0.31
2.0
1.8
—
—
—
0
0
7
98
0.71
0.31
1.0
1.1
1.76
1.52
g/l
—
7
98
7
56
1.26
0.29
1.4
1.9
—
—
—
0
0
7
56
1.26
0.29
5.9
1.4
0.00
0.00
g/l
—
7
56
86
804
1.10
0.28
4.4
5.2
1.74
2.57
ug/l
0.75
77
732
0
11
0.00
0.21
0.0
1.5
—
—
—
0
0
0
10
0.00
0.21
0.0
1.0
—
—
—
0
0
19
219
0.86
0.21
1.8
1.8
3.32
3.49
mmol/l
0.20
13
174
0
12
0.00
0.21
0.0
1.8
—
3.33
—
0
6
27
300
0.89
0.19
1.7
2.1
—
—
—
0
0
12
100
1.21
0.18
1.9
1.1
0.85
0.92
g/l
0.39
12
100
7
62
1.13
0.17
1.7
1.5
—
—
—
0
0
200
1964
1.07
0.16
32.7
17.6
333.05
333.15
g/l
0.05
200
1955
14
122
1.16
0.14
1.8
1.4
—
—
—
0
0
31
334
0.92
0.13
1.7
1.5
—
—
—
0
0
49
512
0.95
0.09
2.1
3.2
0.65
0.72
ug/l
0.34
27
310
6
55
1.09
0.09
1.0
1.2
—
—
—
0
0
7
64
1.10
0.08
5.9
1.4
0.00
0.00
g/l
—
7
56
8
91
0.88
0.07
1.8
1.6
—
—
—
0
0
26
255
1.02
0.00
5.6
6.1
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.9
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
-0.00
0.0
4.2
—
35.80
—
0
5
6
59
1.02
-0.00
1.5
1.2
—
—
—
0
0
Mortality – FinRegistry
↥Association
Association between endpoint E4_PLASMAPROT and mortality.
Females
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| E4_PLASMAPROT | 2.638 [1.89, 3.68] | < 0.001 |
| Birth year | 0.993 [0.98, 1.0] | 0.116 |
During the follow-up period (1.1.1998 — 31.12.2019), 87 out of 555 females with E4_PLASMAPROT died.
Males
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| E4_PLASMAPROT | 3.193 [2.5, 4.09] | < 0.001 |
| Birth year | 0.985 [0.98, 0.99] | 0.003 |
During the follow-up period (1.1.1998 — 31.12.2019), 153 out of 681 males with E4_PLASMAPROT died.
Mortality risk
Mortality risk for people of age
years, who have E4_PLASMAPROT.| N-year risk | Females | Males |
|---|---|---|
| 1 | 0.2% | 0.625% |
| 5 | 1.247% | 3.59% |
| 10 | 3.249% | 8.999% |
| 15 | 6.513% | 16.458% |
| 20 | 11.882% | 26.107% |
Relationships between endpoints
↥Index endpoint: E4_PLASMAPROT – Disorders of plasma-protein metabolism, not elsewhere classified
GWS hits: 8
Endpoint
Case Overlap
Survival Analysis
Genetic Correlations
Genetic Signals
N (Jaccard index)
HR [CI]
rg [CI]
Hits
Coloc Hits
FinRegistry
FinnGen
FinRegistry
FinnGen
FinnGen
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