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 |
519972 |
1. Apply sex-specific ruleNone |
519972 |
2. Check conditionsNone |
519972 |
3. Check pre-conditions, main-only, mode, registry filtersRegistry filters:
2 out of 7 registries used, show all original rules. |
261 |
4. Check minimum number of eventsNone |
261 |
5. Include endpointsNone |
261 |
6. Filter based on genotype QC (FinnGen only) |
257 |
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 event in hilmo or specialist outpatient
- 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 | 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 | 257 | 131 | 126 |
| Unadjusted period prevalence (%) | 0.05 | 0.05 | 0.06 |
| Median age at first event (years) | 54.01 | 53.66 | 54.37 |
-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
- 261
- Matched controls
- 2610
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
260
*
J44.8
ICD-10 Finland
Other specified chronic obstructive pulmonary disease
13.8
82.8
93
101
R03BB04
ATC
tiotropium bromide; inhalant
12.8
76.9
90
103
GD1DD
NOMESCO Finland
High resolution CT examination of lungs
16.3
70.2
66
53
203
Kela drug reimbursment
Chronic asthma and similar chronic obstructive pulmonary diseases
8.1
63.9
130
284
GD1AD
NOMESCO Finland
Thorax CT examination
14.1
57.3
58
52
J45.1
ICD-10 Finland
Nonallergic asthma
9.4
46.8
64
87
J45.9
ICD-10 Finland
Asthma, unspecified
5.9
41.4
105
269
R03AK06
ATC
salmeterol and fluticasone; inhalant
6.1
40.3
91
209
J44.0
ICD-10 Finland
Chronic obstructive pulmonary disease with acute lower respiratory infection
14.2
39.3
38
31
R03DA04
ATC
theophylline; systemic, rectal
10.7
38.0
45
50
J44.1
ICD-10 Finland
Chronic obstructive pulmonary disease with acute exacerbation, unspecified
15.6
36.3
33
24
XG410
NOMESCO Finland
Flow-volume spirometry
11.3
35.7
40
41
XG412
NOMESCO Finland
Flow-volume spirometry with bronchospasmolysis
8.8
33.4
46
62
R03AK08
ATC
formoterol and beclometasone; inhalant
10.9
33.2
38
40
JN1AE
NOMESCO Finland
Ultrasound examination of upper part of abdomen
6.8
32.8
59
107
R03AK03
ATC
[U] fenoterol and ipratropium bromide
10.6
31.7
37
40
GD1AA
NOMESCO Finland
Thorax X-ray examination
4.5
30.5
169
762
UJD10
NOMESCO Finland
Esophagoscopy, gastroscopy and duodenoscopy
4.3
29.3
114
397
R03AC02
ATC
salbutamol; inhalant
4.9
28.1
202
1077
NK6QA
NOMESCO Finland
Measurement of bone density from two or more locations with X-ray
7.9
27.6
41
60
R03BA05
ATC
fluticasone; inhalant
4.3
26.5
91
286
H02AB06
ATC
prednisolone; systemic
4.1
26.4
172
841
127
Kela drug reimbursment
Transplant complication
37.5
26.3
33
10
R03DC03
ATC
montelukast; oral
4.5
26.2
82
240
UGC12
NOMESCO Finland
Flexible bronchoscopy
6.0
25.2
50
99
R03AL09
ATC
formoterol, glycopyrronium bromide and beclometasone; inhalant
11.1
25.2
28
28
L04AA06
ATC
mycophenolic acid; systemic
28.8
24.7
33
13
R03AC12
ATC
salmeterol; inhalant
8.1
24.4
35
49
Z94.2
ICD-10 Finland
Lung transplant status
137.6
24.0
25
*
J45.0
ICD-10 Finland
Predominantly allergic asthma
5.4
23.7
54
121
J43.9
ICD-10 Finland
Emphysema, unspecified
25.0
23.7
33
15
R03AK07
ATC
formoterol and budesonide; inhalant
4.0
23.6
92
314
R03BA01
ATC
beclometasone; inhalant
4.6
23.5
68
186
TGD04
NOMESCO Finland
Needle biopsy of the lungs in bronchoscopy
91.9
23.1
25
*
R03AC03
ATC
terbutaline; inhalant
4.7
22.4
62
163
J01MA12
ATC
levofloxacin; systemic
4.0
22.0
83
275
R03BA02
ATC
budesonide; inhalant
4.0
21.9
80
259
J18.9
ICD-10 Finland
Pneumonia, unspecified
3.7
21.4
95
351
J47
ICD-10 Finland
Bronchiectasis
27.0
21.4
29
12
GDG10
NOMESCO Finland
Bilateral transplantation of lung
227.4
20.9
21
*
R91
ICD-10 Finland
Abnormal findings on diagnostic imaging of lung
5.2
20.3
47
106
GD1PA
NOMESCO Finland
X-ray examination of the lungs in one projection
5.4
20.2
44
94
J44.9
ICD-10 Finland
Chronic obstructive pulmonary disease, unspecified
8.1
19.9
28
38
FM1EE
NOMESCO Finland
Extensive structural and functional ultrasound examination of heart
3.6
19.8
88
323
R03BA08
ATC
ciclesonide; inhalant
4.8
19.0
49
121
R06.0
ICD-10 Finland
Dyspnoea
3.4
18.9
95
376
GD1ED
NOMESCO Finland
Extensive high resolution CT examination of lungs
14.6
18.0
30
23
E88.9
ICD-10 Finland
Metabolic disorder, unspecified
192.5
17.7
18
*
R03AC13
ATC
formoterol; inhalant
6.6
17.7
30
50
K74.6
ICD-10 Finland
Other and unspecified cirrhosis of liver
22.9
17.7
25
12
C08CA02
ATC
felodipine; oral
5.9
17.5
34
65
C03CA01
ATC
furosemide; systemic
3.3
17.0
84
326
J43.1
ICD-10 Finland
Panlobular emphysema
+∞
16.8
16
*
FM1AE
NOMESCO Finland
Standard cardiac ultrasound examination
3.8
16.7
62
200
GD1UA
NOMESCO Finland
Thorax X-ray examination outside radiological department
3.8
16.6
61
195
L04AD02
ATC
tacrolimus; systemic
64.1
16.0
18
*
E88.8
ICD-10 Finland
Other specified metabolic disorders
+∞
15.8
15
*
R02
ICPC
Shortness of breath/dyspnoea
4.0
15.8
52
154
L04AD01
ATC
ciclosporin; systemic
16.1
15.7
25
17
H02AB04
ATC
methylprednisolone; systemic
3.7
15.6
58
187
J45.8
ICD-10 Finland
Mixed asthma
12.4
15.2
27
24
J43.8
ICD-10 Finland
Other emphysema
60.3
15.0
17
*
A12AX
ATC
Calcium, combinations with vitamin D and/or other drugs
2.9
14.9
104
486
GD1BT
NOMESCO Finland
Biopsy of lung with X-ray guidance
158.5
14.6
15
*
JN3AE
NOMESCO Finland
Abdominal ultrasound examination
3.7
14.5
53
168
R03BB01
ATC
ipratropium bromide; inhalant
6.7
14.5
24
39
JJ2AT
NOMESCO Finland
Biopsy of liver with ultrasound guidance
17.0
14.2
22
14
J96.1
ICD-10 Finland
Chronic respiratory failure
17.0
14.2
22
14
Z01.8
ICD-10 Finland
Other specified special examinations
3.0
14.0
78
321
G47.3
ICD-10 Finland
Sleep apnoea
2.9
14.0
86
374
WX302
NOMESCO Finland
Thoracal epidural anesthesy
6.0
13.6
25
45
GD1CD
NOMESCO Finland
Thorax extensive CT-examination
22.6
13.5
19
9
FXA00
NOMESCO Finland
Total cardiopulmonary bypass in normothermia or moderate hypothermia at concurrent surgical procedure
6.4
13.3
23
39
H02AB07
ATC
prednisone; oral
3.6
13.3
49
156
J45
ICD-10 Finland
Asthma
4.2
13.3
38
101
FN1AC
NOMESCO Finland
Angiography of heart and/or coronary arteries
3.1
13.0
66
256
J01CR02
ATC
amoxicillin and beta-lactamase inhibitor; systemic
2.7
12.9
167
1044
R03AL06
ATC
olodaterol and tiotropium bromide; inhalant
14.2
12.7
21
16
TFB00
NOMESCO Finland
Cathetrisation of pulmonal artery
21.4
12.6
18
9
TPH15
NOMESCO Finland
Insertion of central venous catheter through external or internal jugular vein
5.0
12.4
28
61
FM1BE
NOMESCO Finland
Cardiac ultrasound examination through oesophagus
4.7
11.8
29
68
XG470
NOMESCO Finland
Measurement of diffusion capastity of the lungs
9.3
11.8
24
28
C10AA03
ATC
pravastatin; oral
4.8
11.8
28
64
J01MA14
ATC
moxifloxacin; systemic
3.8
11.6
38
111
J01EE01
ATC
sulfamethoxazole and trimethoprim; systemic
4.7
11.5
28
65
JN3AD
NOMESCO Finland
Abdominal CT examination
3.6
11.3
41
129
J20.9
ICD-10 Finland
Acute bronchitis, unspecified
2.8
11.0
65
273
J01AA02
ATC
doxycycline; systemic
3.0
10.8
216
1604
JJ1LE
NOMESCO Finland
Ultrasound elastography of liver
22.6
10.8
15
7
A02BC02
ATC
pantoprazole; systemic
2.6
10.8
187
1295
C03DA01
ATC
spironolactone; oral
3.5
10.6
40
129
Z71.3
ICD-10 Finland
Dietary counselling and surveillance
4.9
10.5
24
53
J46
ICD-10 Finland
Status asthmaticus
10.2
10.5
20
21
TGC00
NOMESCO Finland
Bronchial lavation
8.0
10.4
23
31
R5140
NOMESCO Finland
Monitoring the use of the aid
3.3
10.3
44
153
J15.9
ICD-10 Finland
Bacterial pneumonia, unspecified
3.9
10.3
32
90
Z50.1
ICD-10 Finland
Other physical therapy
4.8
10.2
24
54
SPAT1254
SPAT
Administration of medicine
3.2
10.2
45
160
R06AE07
ATC
cetirizine; oral
2.2
9.3
128
783
R96
ICPC
Asthma
3.5
9.3
35
112
Z03.5
ICD-10 Finland
Observation for other suspected cardiovascular diseases
3.6
9.2
32
97
DM1AA
NOMESCO Finland
Paranasal sinuses X-ray examination without contrast
5.1
9.2
20
42
Z31.5
ICD-10 Finland
Genetic counselling
4.1
9.2
26
68
K76.0
ICD-10 Finland
Fatty (change of) liver, not elsewhere classified
10.6
9.2
17
17
GD1BD
NOMESCO Finland
Thorax extensive CT-examination
4.0
9.0
27
74
TPH07
NOMESCO Finland
Cathetrisation of artery
3.3
8.9
36
121
WX872
NOMESCO Finland
Intensive care
4.5
8.8
22
52
M05BA04
ATC
alendronic acid; oral
3.9
8.8
27
75
R06.2
ICD-10 Finland
Wheezing
4.7
8.8
21
48
UJF32
NOMESCO Finland
Coloscopy
2.4
8.8
75
374
J43.2
ICD-10 Finland
Centrilobular emphysema
51.8
8.7
10
*
R03AK10
ATC
vilanterol and fluticasone furoate; inhalant
4.3
8.7
23
57
FB1BD
NOMESCO Finland
Extensive CT examination of arteria pulmonalis
3.7
8.6
29
86
R05CB01
ATC
acetylcysteine; inhalant, oral
13.4
8.5
14
11
XX4BW, ,
NOMESCO Finland
92.9
8.5
9
*
Z94.4
ICD-10 Finland
Liver transplant status
+∞
8.4
8
*
KA1MN
NOMESCO Finland
Glomerular filtration rate (GFR) Isotope mesurement
34.5
8.1
10
*
TPH04
NOMESCO Finland
Cathetrisation of vein
2.5
8.1
62
293
I85.9
ICD-10 Finland
Oesophageal varices without bleeding
22.9
8.1
11
5
K44.9
ICD-10 Finland
Diaphragmatic hernia without obstruction or gangrene
3.6
8.1
28
85
XG466
NOMESCO Finland
Sleep oxymetry
7.4
7.9
18
26
Z03.9
ICD-10 Finland
Observation for suspected disease or condition, unspecified
2.5
7.9
58
269
GD1QA
NOMESCO Finland
Supine thorax X-ray examination
2.8
7.8
43
172
XG474
NOMESCO Finland
Exhalation nntrogen oxide
7.1
7.7
18
27
ZX108
NOMESCO Finland
Inhalation
19.1
7.7
11
6
R03AL08
ATC
vilanterol, umeclidinium bromide and fluticasone furoate; inhalant
9.3
7.7
15
17
R95
ICPC
Chron obstructive pulmonary disease
6.8
7.6
18
28
J01FA10
ATC
azithromycin; systemic
2.1
7.5
165
1177
R01AD09
ATC
mometasone; nasal
2.0
7.4
132
870
A02BC05
ATC
esomeprazole; systemic
2.1
7.3
113
706
2776A
ICD-9 Finland
Other and unspecified disorders of metabolism, Other deficiencies of circulating enzymes[DEFECTUS ALFA1-ANTITRYPSINI]
+∞
7.3
7
*
JJC00
NOMESCO Finland
Allogenic transplantation of liver
+∞
7.3
7
*
WW200
NOMESCO Finland
Immunization
6.4
7.2
18
30
R03AK04
ATC
salbutamol and sodium cromoglicate; inhalant
30.9
7.2
9
*
R28
ICPC
Limited function/disability (R)
20.7
7.2
10
5
SPAT1256
SPAT
Intramuscular and subcutaneous injection
2.0
7.1
116
738
A07AA02
ATC
nystatin; oral
3.7
6.9
22
63
I50.9
ICD-10 Finland
Heart failure, unspecified
3.0
6.9
31
111
5AB14, ,
NOMESCO Finland
41.2
6.8
8
*
JN1BG
NOMESCO Finland
MRI examination of upper part of abodmen with high intensity magnet
23.2
6.7
9
*
R03BC03
ATC
nedocromil; inhalant
3.2
6.6
27
91
PA6DE
NOMESCO Finland
Neck artery ultrasound examination with Doppler method
6.5
6.6
16
26
C01DA08
ATC
isosorbide dinitrate; oral, oral aerosol, sublingual, transdermal
2.4
6.5
51
242
E78.01
ICD-10 Finland
Pure hypercholesterolaemia
2.6
6.5
39
163
E78.5
ICD-10 Finland
Hyperlipidaemia, unspecified
4.3
6.5
17
42
A02BC01
ATC
omeprazole; systemic
2.1
6.5
74
411
J93.1
ICD-10 Finland
Other spontaneous pneumothorax
71.5
6.5
7
*
R03DX07
ATC
roflumilast; oral
71.5
6.5
7
*
PD4DE
NOMESCO Finland
Lower extremity artery ultrasound examination with Doppler method
14.8
6.4
10
7
ZXE30
NOMESCO Finland
More than five and less than seven hours
4.0
6.4
18
47
J30.10
ICD-10 Finland
Allergic rhinitis due to pollen
3.4
6.3
23
72
R03AL01
ATC
fenoterol and ipratropium bromide; inhalant
5.6
6.3
17
32
GD1RA
NOMESCO Finland
Dynamic X-ray examination of respiratory organs with convetional X-ray picture
+∞
6.3
6
*
M05BX04
ATC
denosumab; parenteral
4.2
6.3
17
43
R06AX26
ATC
fexofenadine; oral
3.2
6.3
25
83
DM1QA
NOMESCO Finland
Paranasal sinuses X-ray examination in one projection
4.0
6.2
18
48
JL5BG
NOMESCO Finland
MRI examinaiton of bile and pancreas ducts with high intesity magnet
8.0
6.2
13
17
C09AA05
ATC
ramipril; oral
2.2
6.2
62
326
K08.1
ICD-10 Finland
Loss of teeth due to accident, extraction or local periodontal disease
2.7
6.1
34
137
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
43
66
7.60
27.76
5.9
3.1
—
—
—
0
0
36
45
9.12
27.57
28.6
6.1
223.00
125.50
iu/ml
—
11
6
173
840
4.14
27.05
11.3
9.9
1.18
1.21
inr
0.20
56
250
35
45
8.83
26.18
4.3
1.4
—
—
—
0
0
57
125
5.55
25.74
4.0
2.8
2.50
1.75
mmol/l
0.74
45
97
77
226
4.41
24.35
2.0
2.1
23.99
24.73
%
0.13
68
204
30
37
9.03
23.11
2.2
1.8
24.84
25.30
mmol/l
0.16
30
37
28
8
38.96
22.56
3.9
1.6
37.57
72.10
ug/l
—
28
8
159
797
3.55
22.21
9.2
4.1
36.38
36.12
g/l
0.23
152
751
170
894
3.59
21.87
12.6
5.5
1.21
1.22
mmol/l
1.30
151
765
79
270
3.76
19.82
3.7
2.0
—
—
—
0
0
66
200
4.08
19.65
7.9
5.2
1.02
1.06
mmol/l
0.76
60
183
25
30
9.11
19.59
5.0
1.6
—
—
—
0
0
25
30
9.11
19.59
5.0
1.6
—
—
—
0
0
111
476
3.32
19.43
3.9
3.0
827.81
970.25
ng/l
0.23
101
405
29
43
7.46
19.10
4.6
1.9
—
—
—
0
0
29
43
7.46
19.10
4.6
1.9
—
—
—
0
0
29
46
6.97
17.96
4.6
1.8
—
—
—
0
0
196
1217
3.45
17.50
14.6
9.5
3.86
3.80
e9/l
0.18
182
1081
25
35
7.79
17.26
4.5
1.5
—
—
—
0
0
25
35
7.79
17.26
4.6
1.5
—
—
—
0
0
29
48
6.67
17.25
2.9
3.3
8.15
8.50
kpa
0.34
29
48
32
59
6.04
17.13
4.6
1.7
—
—
—
0
0
62
201
3.73
16.57
3.8
1.9
—
—
—
0
0
32
61
5.84
16.54
4.7
1.7
—
—
—
0
0
62
203
3.69
16.31
3.8
1.9
—
—
—
0
0
149
828
2.86
15.54
12.1
4.8
1.20
1.21
mmol/l
0.90
139
756
220
1532
3.78
14.97
9.3
3.8
12.17
10.64
mm/h
0.66
212
1423
25
41
6.64
14.95
4.7
1.5
—
—
—
0
0
74
292
3.14
14.31
4.8
2.8
0.98
1.41
e6/l
0.30
52
168
57
193
3.50
14.13
14.5
5.4
1.77
1.05
mmol/l
0.77
47
152
179
1133
2.85
13.93
12.0
3.8
6.42
6.44
mmol/l
0.04
167
1056
26
28
10.18
13.32
5.2
1.5
—
—
—
0
0
92
428
2.78
13.05
2.5
1.7
1.45
1.11
mg/l
0.45
73
322
135
762
2.60
12.92
4.2
2.1
77.52
74.58
nmol/l
0.59
125
682
24
24
10.89
12.79
5.1
1.5
—
—
—
0
0
114
612
2.53
11.89
3.3
2.2
63.99
66.85
u/l
0.12
107
566
62
245
3.01
11.77
3.9
2.8
6.98
8.76
umol/l
0.59
56
211
101
515
2.57
11.71
8.2
2.5
370.58
5493.12
umol/l
2.03
89
455
17
10
18.07
11.35
4.9
1.4
—
—
—
0
0
25
54
5.01
11.20
1.1
1.2
—
—
—
0
0
120
677
2.43
11.04
6.9
2.9
—
—
—
0
0
101
527
2.50
11.03
7.3
2.8
0.11
0.38
e6/l
2.73
82
398
56
217
3.01
10.95
20.7
4.9
104.57
104.59
mmol/l
0.01
56
217
204
1470
2.78
10.85
5.6
2.8
61.82
45.50
u/l
2.19
199
1391
22
44
5.37
10.72
1.1
1.4
293.50
292.89
ug/g
—
10
25
72
323
2.70
10.70
4.7
2.6
0.58
0.81
e6/l
0.67
51
198
24
53
4.89
10.48
1.1
1.2
386.47
244.21
u/ml
0.67
17
38
23
31
8.03
10.44
1.8
1.6
135.81
133.42
g/l
0.12
16
24
34
103
3.65
9.83
20.6
5.6
24.19
25.06
mmol/l
0.77
34
103
(3020427) Coagulation factor X inhibitor [Units/volume] in Platelet poor plasma by Coagulation assay
21
44
5.10
9.72
4.4
2.7
0.27
0.31
u/ml
—
7
30
19
37
5.46
9.51
2.3
1.7
—
—
—
0
0
23
55
4.49
9.12
1.5
1.3
—
—
—
0
0
136
865
2.19
8.87
2.9
2.4
159.78
125.92
ug/l
0.86
128
801
20
30
7.13
8.55
1.1
1.2
—
—
—
0
0
21
50
4.48
8.36
1.4
1.3
110.80
97.29
u/ml
—
5
7
60
276
2.52
8.30
1.8
1.9
1.52
1.40
%
0.76
51
247
18
25
7.65
8.11
1.6
1.3
—
—
—
0
0
20
47
4.53
8.09
1.8
1.6
—
—
—
0
0
19
29
6.98
8.05
1.3
1.2
—
—
—
0
0
11
6
19.06
7.66
5.9
2.3
—
—
—
0
0
115
716
2.08
7.61
4.5
2.9
41.69
38.80
ng/l
0.08
94
448
29
94
3.35
7.55
1.7
1.7
—
—
—
0
0
81
442
2.21
7.53
2.7
1.9
3.45
3.18
mg/l
0.34
68
388
144
982
2.04
7.35
4.9
3.1
0.00
0.00
estimate
-0.00
41
206
143
976
2.03
7.24
7.2
4.2
0.00
0.00
estimate
-0.00
37
196
175
1294
2.07
6.98
7.7
3.7
62.33
51.84
e6/l
—
6
19
18
33
5.78
6.74
3.7
2.5
4.94
5.02
kpa
0.18
18
33
88
515
2.07
6.72
3.3
3.4
2.85
6.61
mg/mmol
1.48
62
317
143
993
1.97
6.72
4.9
3.2
0.00
0.02
estimate
0.50
39
191
18
34
5.61
6.60
3.7
4.8
51.50
55.94
%
0.51
18
34
17
32
5.61
6.27
3.6
4.3
3.40
4.64
e9/l
1.37
17
32
16
30
5.61
5.95
3.1
2.1
—
—
—
0
0
16
30
5.61
5.95
1.2
1.1
—
—
—
0
0
9
6
15.46
5.94
1.0
1.0
—
—
—
0
0
10
10
10.34
5.58
2.7
1.0
101.30
108.10
%
—
10
10
57
303
2.13
5.50
6.1
3.3
1047.42
422.57
ng/l
0.96
49
213
15
30
5.24
5.34
1.4
1.3
2.50
4.24
u/ml
—
6
17
28
109
2.76
5.34
1.4
1.6
—
—
—
0
0
9
8
11.59
5.33
2.7
2.5
38144.44
38987.50
ug/l
—
9
8
18
54
3.51
5.27
1.4
1.3
—
—
—
0
0
15
31
5.07
5.21
1.4
1.4
3.60
2.00
u/ml
—
5
13
10
12
8.61
5.10
1.1
1.1
—
—
—
0
0
14
28
5.22
5.02
3.4
2.2
—
—
—
0
0
64
371
1.96
4.84
1.3
1.3
15.51
34.58
iu/ml
1.70
19
119
(40770918) von Willebrand factor (vWf).activity actual/normal in Platelet poor plasma by Immunoassay
8
7
11.74
4.81
1.1
1.0
168.63
155.43
%
—
8
7
191
1554
1.85
4.64
4.8
3.6
14.60
14.73
pmol/l
0.29
172
1409
91
603
1.78
4.49
6.2
3.1
2.30
2.36
mmol/l
3.12
81
532
11
19
5.99
4.49
1.1
1.2
—
—
—
0
0
12
24
5.19
4.37
1.5
1.2
—
—
—
0
0
(3011547) Coagulation factor VII activity actual/normal in Platelet poor plasma by Coagulation assay
7
6
11.94
4.30
1.1
1.0
95.71
133.67
%
—
7
6
58
340
1.91
4.21
1.7
1.7
478.56
39384004.99
pmol/l
0.50
48
292
11
22
5.17
4.05
1.9
1.4
—
—
—
0
0
11
22
5.17
4.05
2.6
3.0
—
—
—
0
0
10
18
5.73
4.01
2.1
1.3
—
—
—
0
0
220
1905
1.99
4.01
26.5
14.0
15.74
15.05
%
0.68
220
1875
241
2166
2.47
3.88
27.3
11.6
18.23
22.81
mg/l
2.24
220
1662
127
958
1.63
3.72
3.6
2.5
—
—
—
0
0
16
56
2.98
3.70
2.7
2.5
—
—
—
0
0
15
52
3.00
3.52
2.1
2.0
—
—
—
0
0
99
713
1.63
3.43
2.1
1.8
96.00
99.62
pmol/l
0.32
57
364
217
1902
1.84
3.37
5.6
4.2
1.80
1.90
mu/l
0.59
199
1743
8
14
5.86
3.36
2.0
1.4
—
—
—
0
0
72
485
1.67
3.21
3.3
2.2
—
—
—
0
0
23
106
2.28
3.13
5.3
2.0
0.24
0.15
e6/l
0.28
23
100
36
198
1.95
3.13
2.8
4.8
4.05
61.34
ug/l
0.81
28
164
6
8
7.64
3.07
1.2
1.1
—
—
—
0
0
8
17
4.82
2.94
1.8
1.2
—
—
—
0
0
70
479
1.63
2.91
1.3
1.2
0.58
1.16
u/ml
0.83
18
142
43
257
1.81
2.91
3.7
3.9
32.00
31.12
%
0.22
36
181
248
2302
2.55
2.91
19.4
9.6
33.42
27.09
u/l
6.09
248
2232
12
38
3.26
2.89
1.5
1.4
—
—
—
0
0
12
38
3.26
2.89
1.5
1.4
—
—
—
0
0
6
9
6.79
2.88
1.2
1.3
8.17
8.33
u/l
—
6
9
17
71
2.49
2.86
4.2
2.1
0.58
0.65
%
0.55
17
71
13
47
2.86
2.86
1.2
1.2
—
—
—
0
0
7
14
5.10
2.74
1.6
1.2
—
—
—
0
0
17
73
2.42
2.71
4.2
2.0
0.93
1.58
%
1.97
17
73
23
113
2.14
2.71
30.6
6.1
93.85
94.17
%
0.13
23
113
226
2042
1.80
2.68
4.9
3.6
1.28
1.29
mmol/l
0.10
217
1895
9
25
3.69
2.60
2.3
2.3
—
—
—
0
0
6
11
5.55
2.55
1.8
1.8
12.33
14.64
u/l
—
6
11
27
145
1.96
2.53
6.3
3.5
1.56
2.39
mmol/l
0.60
22
116
232
2121
1.84
2.53
5.5
4.0
4.73
4.77
mmol/l
0.22
222
1985
168
1425
1.50
2.52
3.2
3.1
—
—
—
0
0
76
549
1.54
2.48
1.8
1.6
1.34
1.35
mmol/l
0.03
67
466
8
21
3.89
2.48
1.1
1.1
—
—
—
0
0
8
21
3.89
2.48
1.1
1.1
—
—
—
0
0
8
21
3.89
2.48
1.1
1.1
—
—
—
0
0
18
83
2.26
2.47
1.6
2.2
—
—
—
0
0
12
46
2.69
2.39
1.4
1.8
—
—
—
0
0
224
2036
1.71
2.38
22.9
10.6
83.88
84.50
ml/min/173m2
0.16
207
1686
32
187
1.81
2.34
3.4
2.6
29.84
33.75
u/l
0.30
25
167
26
145
1.88
2.20
6.5
3.5
5.55
5.79
kpa
0.47
26
140
8
24
3.40
2.20
1.6
2.1
—
—
—
0
0
8
24
3.40
2.20
1.3
2.5
2.72
2.62
nmol/l
—
8
24
8
24
3.40
2.20
1.1
1.0
—
—
—
0
0
8
24
3.40
2.20
1.6
2.1
—
—
—
0
0
8
24
3.40
2.20
1.6
2.1
—
—
—
0
0
47
312
1.62
2.19
1.8
1.6
1154.37
1228.35
nmol/l
0.24
38
243
11
42
2.69
2.17
1.6
3.7
—
3.16
—
0
7
7
19
3.76
2.16
1.0
1.2
—
—
—
0
0
31
184
1.78
2.16
3.2
2.9
—
—
—
0
0
6
14
4.36
2.16
2.3
1.2
—
—
—
0
0
12
49
2.52
2.13
1.2
1.3
—
—
—
0
0
7
20
3.57
2.07
1.6
1.6
—
—
—
0
0
7
20
3.57
2.07
1.1
1.1
—
—
—
0
0
7
20
3.57
2.07
1.6
1.6
—
—
—
0
0
7
20
3.57
2.07
1.0
1.2
—
—
—
0
0
7
20
3.57
2.07
1.1
1.1
—
—
—
0
0
7
20
3.57
2.07
1.6
1.6
—
—
—
0
0
7
20
3.57
2.07
1.6
1.6
—
—
—
0
0
6
15
4.07
2.05
3.0
2.4
107.50
105.67
mmol/l
—
6
15
229
2114
1.68
2.03
5.5
4.0
1.50
1.47
mmol/l
0.44
218
1972
10
38
2.70
2.02
2.2
1.5
—
—
—
0
0
16
77
2.15
2.01
7.3
2.6
53.20
49.25
%
0.27
16
77
7
21
3.40
1.98
1.6
1.6
—
—
—
0
0
7
21
3.40
1.98
1.6
1.6
—
—
—
0
0
6
16
3.81
1.94
2.8
1.4
0.89
1.09
g/l
—
6
16
57
409
1.50
1.89
1.9
1.4
19.08
20.52
nmol/l
0.34
49
349
7
22
3.24
1.89
2.3
1.5
—
—
—
0
0
98
781
1.41
1.88
5.3
3.1
—
—
—
0
0
7
23
3.10
1.81
1.0
1.0
—
—
—
0
0
50
356
1.50
1.72
1.4
1.3
13.28
10.42
u/ml
0.11
17
151
5
13
3.90
1.72
1.8
1.7
10.32
10.23
umol/l
—
5
13
5
13
3.90
1.72
1.8
2.6
—
—
—
0
0
5
13
3.90
1.72
1.8
2.6
—
—
—
0
0
5
13
3.90
1.72
2.6
1.2
—
—
—
0
0
12
55
2.24
1.70
1.2
1.2
—
—
—
0
0
211
1938
1.46
1.63
6.9
4.8
39.50
38.62
mmol/mol
0.77
197
1811
5
14
3.62
1.62
2.6
1.4
—
—
—
0
0
230
2151
1.58
1.61
5.7
4.4
2.75
2.86
mmol/l
1.16
222
2003
8
32
2.55
1.61
2.5
1.6
—
—
—
0
0
22
131
1.74
1.55
5.5
2.7
4.49
4.82
kpa
0.51
22
126
14
252
0.53
1.52
2.4
1.7
—
—
—
0
0
13
67
1.99
1.41
1.3
1.3
—
—
—
0
0
55
418
1.40
1.35
1.3
1.5
—
—
—
0
0
5
19
2.66
1.22
1.4
1.6
13.40
17.10
ug/l
—
5
19
8
38
2.14
1.19
1.6
1.4
—
—
—
0
0
68
549
1.32
1.15
5.2
3.4
0.00
0.00
estimate
-0.00
39
191
9
47
1.95
1.03
1.7
1.9
—
—
—
0
0
12
68
1.80
1.02
2.0
1.5
—
—
—
0
0
0
30
0.00
0.98
0.0
1.3
—
—
—
0
0
21
143
1.51
0.93
1.1
1.3
360.55
106.09
iu/ml
—
8
62
6
29
2.09
0.90
1.0
1.0
—
—
—
0
0
8
42
1.93
0.89
1.4
1.6
—
—
—
0
0
6
115
0.51
0.84
1.7
1.3
—
—
—
0
0
17
113
1.54
0.84
1.0
1.0
—
—
—
0
0
214
2035
1.29
0.81
5.2
4.1
5.79
5.84
mmol/l
0.24
196
1871
15
98
1.56
0.80
1.9
1.8
18.75
3.41
mg/l
1.20
15
69
250
2436
1.62
0.80
36.1
17.4
136.56
137.62
g/l
0.48
250
2401
0
28
0.00
0.76
0.0
1.3
—
184.88
—
0
28
7
39
1.82
0.73
4.1
2.5
3.71
159.27
ug/min
—
7
19
249
2432
1.52
0.67
35.9
17.4
247.95
248.57
e9/l
0.05
249
2377
249
2432
1.52
0.67
37.9
17.3
40.55
40.75
%
0.19
241
2302
18
244
0.72
0.64
1.7
1.7
—
—
—
0
0
52
607
0.82
0.60
3.3
4.2
22.42
21.15
%
0.26
21
278
6
39
1.55
0.53
1.3
1.1
—
—
—
0
0
20
156
1.31
0.46
2.5
2.5
50.50
71.37
ml/min/173m2
—
10
65
10
141
0.70
0.46
1.5
2.0
—
—
—
0
0
0
15
0.00
0.41
0.0
1.0
—
526.33
—
0
9
0
15
0.00
0.41
0.0
1.0
—
33.81
—
0
9
0
15
0.00
0.41
0.0
1.1
—
—
—
0
0
0
17
0.00
0.41
0.0
1.3
—
—
—
0
0
9
66
1.38
0.39
4.7
1.5
—
—
—
0
0
6
87
0.68
0.33
2.0
1.7
—
—
—
0
0
6
47
1.28
0.32
5.8
1.5
0.00
0.00
g/l
—
6
47
23
271
0.83
0.31
1.6
1.9
—
—
—
0
0
79
736
1.11
0.28
4.0
4.7
1.78
2.58
ug/l
0.68
71
671
14
116
1.22
0.22
1.8
1.4
—
—
—
0
0
0
11
0.00
0.21
0.0
1.5
—
—
—
0
0
0
10
0.00
0.21
0.0
1.0
—
—
—
0
0
0
10
0.00
0.21
0.0
1.4
—
1.00
—
0
5
0
12
0.00
0.21
0.0
2.1
—
—
—
0
0
0
12
0.00
0.21
0.0
2.1
—
—
—
0
0
0
13
0.00
0.21
0.0
1.7
—
4.00
—
0
5
0
13
0.00
0.21
0.0
2.3
—
—
—
0
0
9
113
0.79
0.20
1.4
1.8
—
—
—
0
0
0
14
0.00
0.20
0.0
1.2
—
—
—
0
0
0
14
0.00
0.20
0.0
1.1
—
106.41
—
0
14
0
14
0.00
0.20
0.0
2.4
—
7.13
—
0
14
6
50
1.20
0.20
1.5
1.8
—
—
—
0
0
6
52
1.16
0.19
1.5
1.2
—
—
—
0
0
28
306
0.90
0.15
1.6
1.4
—
—
—
0
0
46
434
1.07
0.13
4.2
3.3
1.02
1.02
kg/l
0.00
15
70
12
106
1.14
0.10
1.4
1.6
—
—
—
0
0
5
47
1.07
0.09
1.0
1.2
—
—
—
0
0
44
460
0.95
0.09
1.9
3.0
0.75
0.71
ug/l
0.12
22
289
5
61
0.82
0.08
1.2
1.6
—
—
—
0
0
5
63
0.79
0.08
2.2
1.3
30.28
24.48
iu/l
—
5
55
25
245
1.02
0.00
5.8
6.1
—
—
—
0
0
5
59
0.84
-0.00
1.0
1.5
—
—
—
0
0
5
59
0.84
-0.00
1.0
1.5
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
5
53
0.94
-0.00
1.2
1.4
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.2
—
—
—
0
0
5
59
0.84
-0.00
1.0
1.5
—
—
—
0
0
5
59
0.84
-0.00
1.0
1.5
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.9
—
—
—
0
0
0
5
0.00
-0.00
0.0
2.2
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.0
—
—
—
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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