Atrioventricular septal defect

Q17_AVSD

Endpoint definition

Report an error or suggest an improvement for this endpoint codes

Endpoint definition steps

FinnGen

Phenotype data

557745

1. Apply sex-specific rule

None

557745

2. Check conditions

None

557745

3. Check pre-conditions, main-only, mode, registry filters

Registry filters:

  • Hospital discharge: ICD-10 Q21.2
  • Hospital discharge: ICD-9 7456[B-C]|7458X
  • Hospital discharge: excluded ICD-10 Q90|Q91|Q92|Q93|Q96|Q8780|Q8781|Q8782|Q8783|Q8784|Q8786|Q8788|Q85|Q796|Q874|Q875
  • Hospital discharge: excluded ICD-9 758|7595|75683
  • Cause of death: ICD-10 Q21.2
  • Cause of death: ICD-9 7456[B-C]|7458X
  • Cause of death: excluded ICD-10 Q90|Q91|Q92|Q93|Q96|Q8780|Q8781|Q8782|Q8783|Q8784|Q8786|Q8788|Q85|Q796|Q874|Q875
  • Cause of death: excluded ICD-9 758|7595|75683

2 out of 7 registries used, show all original rules.

168

4. Check minimum number of events

None

168

5. Include endpoints

None

168

6. Filter based on genotype QC (FinnGen only)

143

Control definitions (FinnGen only)

Controls for this endpoint are individuals that are not cases.

Extra metadata

Level in the ICD hierarchy
3
First used in FinnGen datafreeze
DF7

Case counts by codes

FinnGen case counts by registry codes:

generic upset plot

Upset plot

Full data table

Summary Statistics

-FinRegistry-

Key figures

All Female Male
Number of individuals
Whole population 2000 1168 826
Only index persons 1460 841 619
Unadjusted period prevalence (%)
Whole population 0.03 0.03 0.02
Only index persons 0.03 0.03 0.02
Median age at first event (years)
Whole population 4.19 4.72 3.16
Only index persons 8.98 10.27 7.24

-FinnGen-

Key figures

All Female Male
Number of individuals 143 87 56
Unadjusted period prevalence (%) 0.03 0.03 0.03
Median age at first event (years) 32.39 30.41 35.47

-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

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
152
Matched controls
1520
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
FM1BE
NOMESCO Finland
Cardiac ultrasound examination through oesophagus
42.2
112.7
79
38
Q21.10
ICD-10 Finland
Persistent ostium secundum
73.5
104.4
59
13
Q21.20
ICD-10 Finland
Atrial septal defect of primum type
+∞
72.9
64
*
201
Kela drug reimbursment
Chronic cardiac insufficiency
29.9
71.0
52
26
FXA00
NOMESCO Finland
Total cardiopulmonary bypass in normothermia or moderate hypothermia at concurrent surgical procedure
32.9
68.9
48
21
Q21.21
ICD-10 Finland
Atrioventricular duct
+∞
64.2
57
*
FM1AE
NOMESCO Finland
Standard cardiac ultrasound examination
12.2
54.0
77
118
XF404
NOMESCO Finland
Ambulatory ECG
15.5
49.9
51
48
FM1EE
NOMESCO Finland
Extensive structural and functional ultrasound examination of heart
9.7
45.3
89
194
B01AA03
ATC
warfarin; systemic
11.1
42.1
56
76
I34.09
ICD-10 Finland
Mitral (valve) insufficiency
15.9
34.2
32
25
Q21.29
ICD-10 Finland
Atrioventricular septal defect UNS
+∞
33.6
31
*
Q21.19
ICD-10 Finland
Atrial septal defect NOS
193.0
30.9
31
*
FM1DE
NOMESCO Finland
Doppler ultrasound examination of heart
9.1
30.8
45
67
C01AA05
ATC
digoxin; systemic
33.3
29.3
38
15
GD1UA
NOMESCO Finland
Thorax X-ray examination outside radiological department
6.7
27.7
59
131
TFC00
NOMESCO Finland
Catheterisation of right atrium or ventricle
170.2
27.6
28
*
C03CA01
ATC
furosemide; systemic
6.3
27.1
66
166
WX872
NOMESCO Finland
Intensive care
27.3
26.3
36
17
XF400
NOMESCO Finland
ECG with 12 standard connections
6.2
24.7
57
135
XF620
NOMESCO Finland
Examination of circulation with color method
148.4
24.4
25
*
WX700
NOMESCO Finland
Respiratory and circulatory monitoring
6.0
23.6
55
131
XF402
NOMESCO Finland
ECG with work load test
8.5
22.6
33
48
GD1AA
NOMESCO Finland
Thorax X-ray examination
5.3
22.4
102
421
I48
ICD-10 Finland
Atrial fibrillation and flutter
6.7
22.3
43
85
FFC22
NOMESCO Finland
Percutaneous transluminal closure of ostium secundum type ASD
89.4
21.3
23
*
FN1AC
NOMESCO Finland
Angiography of heart and/or coronary arteries
5.9
21.0
48
111
TPH04
NOMESCO Finland
Cathetrisation of vein
5.2
20.8
59
165
Q21.11
ICD-10 Finland
Paten or persistent foramen ovale
29.5
20.4
27
11
Q21.2
ICD-10 Finland
Atrioventricular septal defect
+∞
20.3
19
*
I50.9
ICD-10 Finland
Heart failure, unspecified
6.5
17.7
33
62
ZXE30
NOMESCO Finland
More than five and less than seven hours
8.4
17.1
24
33
31
HP
Congenital heart failure surgery
101.4
17.0
18
*
Q21.00
ICD-10 Finland
Multiple ventricular septal defect
53.9
16.4
19
*
TFP20
NOMESCO Finland
Cardiodefibrillation
8.0
16.2
24
35
207
Kela drug reimbursment
Chronic arrhythmias
5.9
16.1
33
68
7456C
ICD-9 Finland
Bulbus cordis anomalies and anomalies of cardiac septal closure, Endocardial cushion defects[ASD CANALIS ATRIOVENTRICULARIS COMMUNIS]
+∞
15.9
15
*
TPH07
NOMESCO Finland
Cathetrisation of artery
5.4
15.7
36
82
C03DA01
ATC
spironolactone; oral
5.5
15.4
35
79
FM1DG
NOMESCO Finland
Very extensive MRI examination of heart with high intesity magnet
24.1
15.1
21
10
TPH15
NOMESCO Finland
Insertion of central venous catheter through external or internal jugular vein
6.4
15.1
28
52
WX704
NOMESCO Finland
Intubation
6.1
14.8
29
57
XFP20
NOMESCO Finland
Check up of cardiac pacemaker
13.4
14.4
25
22
FFC00
NOMESCO Finland
Suture of ostium secundum type ASD
59.2
14.1
16
*
I34.00
ICD-10 Finland
Mitral (valve) incompetence NOS or of specified cause, except rheumatic
37.9
13.8
17
5
Q90.9
ICD-10 Finland
Down syndrome, unspecified
+∞
13.7
13
*
Q21.09
ICD-10 Finland
Ventricular septal defect NOS
44.3
13.4
16
*
I69.3
ICD-10 Finland
Sequelae of cerebral infarction
6.6
13.2
23
40
Z95.0
ICD-10 Finland
Presence of electronic cardiac devices
14.1
13.1
22
18
Q90.0
ICD-10 Finland
Trisomy 21, meiotic nondisjunction
141.2
12.6
13
*
WX408
NOMESCO Finland
General anesthesy, balanced
3.5
12.4
64
263
WX725
NOMESCO Finland
Noninvasive ventilation
6.4
12.3
22
39
Z45.0
ICD-10 Finland
Adjustment and management of cardiac devices
23.7
12.3
17
8
TFB00
NOMESCO Finland
Cathetrisation of pulmonal artery
51.0
12.1
14
*
WX892
NOMESCO Finland
Monitored bed care
5.3
12.0
27
60
I63.9
ICD-10 Finland
Cerebral infarction, unspecified
5.8
11.9
24
48
WX882
NOMESCO Finland
High dependency care
6.1
11.7
22
41
ZXE20
NOMESCO Finland
More than three and less than five hours
4.3
11.7
35
98
74646
ICD-8 Finland
Congenital anomalies of heart, Defectus septi atriorum, ostium primum
+∞
11.6
11
*
7455A
ICD-9 Finland
Bulbus cordis anomalies and anomalies of cardiac septal closure, Ostium secundum type atrial septal defect
+∞
11.6
11
*
Z2221
NOMESCO Finland
Medical doctor
3.3
11.2
66
290
ZXD10
NOMESCO Finland
Scheduled procedure
3.2
11.1
80
396
Q21.08
ICD-10 Finland
Other specifed ventricular septal defect
23.6
10.9
15
7
ZXE40
NOMESCO Finland
More than seven and less than nine hours
15.8
10.8
17
12
XA800
NOMESCO Finland
Neuropsychological investigation
5.3
10.1
22
47
62
HP
Catheterization and pressure measurement of the right side of the heart
58.9
9.8
11
*
AN1
HP
Coronary angiography
5.5
9.6
20
41
Q20.48
ICD-10 Finland
Single ventricle
106.4
9.5
10
*
XFE00
NOMESCO Finland
Epicardial ultrasonography
23.5
9.5
13
6
FFD20
NOMESCO Finland
Closure of atrio-ventricular septal defect using patch
+∞
9.5
9
*
AF1
HP
Surgery of congenital heart defect
+∞
9.5
9
*
7580A
ICD-9 Finland
Chromosomal anomalies, Down's syndrome
+∞
9.5
9
*
FFC42
NOMESCO Finland
Percutaneous closure of patent foramen ovale
+∞
9.5
9
*
Q21.28
ICD-10 Finland
Atrioventricular septal defect
+∞
9.5
9
*
K78
ICPC
Atrial fibrillation/flutter
8.4
9.3
20
27
FN1BC
NOMESCO Finland
Extensive angiography of hear and/or coronary arteries
9.1
8.9
18
22
61
HP
Catheterization and pressure measurement of the left side of the heart
21.5
8.6
12
6
ZXE50
NOMESCO Finland
More than nine and less than 12 hours
29.4
8.6
11
*
7456B
ICD-9 Finland
Bulbus cordis anomalies and anomalies of cardiac septal closure, Endocardial cushion defects[DEFECTUS SEPTI ATRIORUM, OSTII PRIMII]
+∞
8.4
8
*
Q21.18
ICD-10 Finland
Other spedified atrial septal defect
+∞
8.4
8
*
I44.2
ICD-10 Finland
Atrioventricular block, complete
15.6
8.4
13
9
XF622
NOMESCO Finland
Measurement of minute volume of heart
35.4
8.2
10
*
FM2CE, ,
NOMESCO Finland
8.6
8.1
17
22
B01AC04
ATC
clopidogrel; oral
3.9
8.1
26
76
C07AB07
ATC
bisoprolol; oral
2.7
8.1
68
352
I50.0
ICD-10 Finland
Congestive heart failure
7.4
7.9
18
27
C01BD01
ATC
amiodarone; systemic
16.1
7.9
12
8
C07AA07
ATC
sotalol; systemic
12.8
7.7
13
11
Q25.0
ICD-10 Finland
Patent ductus arteriosus
26.5
7.7
10
*
ZX120
NOMESCO Finland
Intravenous
3.8
7.6
25
74
FPE20
NOMESCO Finland
Implantation of transvenous cardiac pacemaker with atrial and ventricular electrodes
14.3
7.5
12
9
FM1CG
NOMESCO Finland
Extensive examination of hear with high intensity magnet
84.0
7.5
8
*
C09AA02
ATC
enalapril; systemic
3.4
7.5
30
102
J18.9
ICD-10 Finland
Pneumonia, unspecified
2.8
7.4
46
202
Q21.1
ICD-10 Finland
Atrial septal defect
+∞
7.3
7
*
74663
ICD-8 Finland
Congenital anomalies of heart, Stenosis valvulae pulmonalis
+∞
7.3
7
*
74647
ICD-8 Finland
Congenital anomalies of heart, Ostium atrioventriculare commune
+∞
7.3
7
*
ZXD05
NOMESCO Finland
Urgent procedure
2.6
7.3
58
288
J96.1
ICD-10 Finland
Chronic respiratory failure
31.7
7.2
9
*
G04BE03
ATC
sildenafil; oral
31.7
7.2
9
*
WX720
NOMESCO Finland
Own respiration
7.6
7.2
16
23
XF600
NOMESCO Finland
Bloodpressure measurement
4.0
7.2
22
62
Z01.8
ICD-10 Finland
Other specified special examinations
2.8
7.2
43
185
ZXE10
NOMESCO Finland
More than one and less than three hours
2.5
7.1
64
338
Z03.5
ICD-10 Finland
Observation for other suspected cardiovascular diseases
3.7
7.0
24
73
I49.5
ICD-10 Finland
Sick sinus syndrome
11.7
6.9
12
11
Q21.9
ICD-10 Finland
Congenital malformation of cardiac septum, unspecified
42.0
6.8
8
*
Q25.1
ICD-10 Finland
Coarctation of aorta
42.0
6.8
8
*
I48.2
ICD-10 Finland
Chronic atrial fibrillation
13.1
6.7
11
9
WX404
NOMESCO Finland
Intravenous generell anesthesy
2.6
6.7
49
233
AA1AD
NOMESCO Finland
CT of head and brain
2.7
6.7
45
205
XF640, ,
NOMESCO Finland
10.7
6.7
12
12
FB1BD
NOMESCO Finland
Extensive CT examination of arteria pulmonalis
4.4
6.5
17
42
GD1QA
NOMESCO Finland
Supine thorax X-ray examination
3.4
6.5
26
88
Z01.0
ICD-10 Finland
Examination of eyes and vision
2.7
6.5
44
201
AP2
HP
Catheterization of the right side of the heart
72.8
6.5
7
*
Q21.30
ICD-10 Finland
Tetralogy of Fallot
72.8
6.5
7
*
UGC02
NOMESCO Finland
Rigid bronchoscopy
72.8
6.5
7
*
I47.2
ICD-10 Finland
Ventricular tachycardia
11.7
6.4
11
10
I83.0
ICD-10 Finland
Varicose veins of lower extremities with ulcer
19.0
6.3
9
5
TFC99
NOMESCO Finland
Catheterisation of heart with other procedure
19.0
6.3
9
5
Q22.1
ICD-10 Finland
Congenital pulmonary valve stenosis
27.9
6.3
8
*
I27.0
ICD-10 Finland
Primary pulmonary hypertension
+∞
6.3
6
*
74639
ICD-8 Finland
Congenital anomalies of heart, Defectus septi ventriculorum
+∞
6.3
6
*
Q20.3
ICD-10 Finland
Discordant ventriculoarterial connection
+∞
6.3
6
*
7454A
ICD-9 Finland
Bulbus cordis anomalies and anomalies of cardiac septal closure, Ventricular septal defect[DEFECTUS SEPTI VENTRICULORUM NUD]
+∞
6.3
6
*
74642
ICD-8 Finland
Congenital anomalies of heart, Defectus septi atriorum, ostium secundum
+∞
6.3
6
*
AP3
HP
Catheterization of the right and left side of the heart
+∞
6.3
6
*
I37.1
ICD-10 Finland
Pulmonary valve insufficiency
+∞
6.3
6
*
I48.4
ICD-10 Finland
Atypical atrial flutter
+∞
6.3
6
*
I48.1
ICD-10 Finland
Persistent atrial fibrillation
9.2
6.2
12
14
K84
ICPC
Heart disease other
13.3
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
cases
controls
unit
-log10(p)
N cases
N controls
87
294
5.58
25.15
8.7
4.1
1073.85
1113.39
ng/l
0.07
82
242
44
115
4.98
16.44
18.4
14.9
5.30
5.07
kpa
0.59
44
110
44
115
4.98
16.44
18.4
14.9
10.99
13.53
kpa
3.43
44
110
43
117
4.73
15.20
18.8
14.9
0.52
1.11
mmol/l
0.41
38
98
42
117
4.58
14.36
19.3
14.9
7.41
7.42
ph
0.39
27
65
59
224
3.67
12.98
6.2
3.5
591.60
133.01
ng/l
0.94
52
147
21
36
6.61
12.16
4.1
18.6
0.88
0.93
%
0.22
21
31
91
474
3.29
11.71
42.6
9.7
1.56
1.16
inr
6.41
83
390
30
83
4.26
10.14
4.2
6.1
21.50
21.79
s
0.13
24
75
24
58
4.73
9.58
3.5
12.1
—
—
—
0
0
37
129
3.47
8.95
13.4
11.0
9.67
6.67
mmol/l
1.49
37
124
44
202
2.66
6.41
5.4
2.6
13.48
13.41
umol/l
0.02
44
191
40
178
2.69
6.18
5.6
2.6
22.30
22.49
%
0.03
40
169
39
179
2.59
5.63
13.3
9.6
7.38
7.38
ph
0.11
30
103
87
575
2.20
5.33
4.4
3.3
—
—
estimate
—
0
0
36
164
2.57
5.25
3.0
1.9
—
—
—
0
0
38
179
2.50
5.17
3.0
2.3
—
—
—
0
0
56
314
2.24
5.13
4.8
5.1
—
—
—
0
0
34
162
2.42
4.47
14.9
11.2
104.56
104.51
mmol/l
0.02
34
162
8
9
9.30
4.33
2.0
3.9
0.65
0.70
nmol/l
—
8
9
13
36
3.85
3.60
11.7
13.6
74.51
62.40
%
1.62
13
36
11
26
4.48
3.58
1.2
1.2
—
—
—
0
0
62
407
1.88
3.45
5.1
3.5
28.74
30.14
ng/l
0.03
45
249
31
163
2.13
3.20
37.1
15.3
25.17
24.95
mmol/l
0.16
31
163
31
163
2.13
3.20
34.1
12.5
—
—
—
0
0
79
573
1.79
3.10
23.1
11.1
1.20
1.22
mmol/l
1.79
79
538
27
136
2.20
3.09
4.2
3.8
0.20
0.22
g/l
0.80
27
128
83
627
1.71
2.70
16.9
10.9
1.20
1.22
mmol/l
1.99
78
553
23
115
2.18
2.68
3.3
4.2
79.74
68.19
e9/l
1.31
16
81
27
455
0.51
2.66
2.3
1.9
—
—
—
0
0
5
7
7.33
2.57
2.8
1.0
—
—
—
0
0
5
7
7.33
2.57
2.0
17.3
140.40
173.00
mg/l
—
5
7
6
12
5.16
2.42
4.5
2.6
4.07
4.04
mmol/l
—
6
12
5
8
6.41
2.39
1.0
1.4
9.80
9.75
umol/l
—
5
8
8
23
3.61
2.30
2.8
4.7
—
—
—
0
0
6
13
4.76
2.29
1.7
1.2
—
—
—
0
0
8
24
3.46
2.21
2.8
1.9
—
—
—
0
0
8
24
3.46
2.21
2.8
1.9
—
—
—
0
0
8
24
3.46
2.21
2.8
1.9
—
—
—
0
0
8
24
3.46
2.21
2.8
1.9
—
—
—
0
0
140
1270
2.30
2.09
38.1
17.0
139.22
139.56
mmol/l
0.87
140
1249
5
10
5.13
2.08
1.0
2.5
—
—
—
0
0
140
1271
2.29
2.07
38.1
17.1
3.99
3.94
mmol/l
2.08
140
1247
15
70
2.27
2.06
10.6
10.1
0.57
0.62
%
0.23
15
70
92
750
1.57
1.96
9.0
8.5
1.71
1.99
e9/l
2.97
83
667
90
731
1.57
1.94
9.1
8.5
0.66
0.56
e9/l
1.75
80
630
55
400
1.59
1.92
4.9
3.1
—
—
—
0
0
5
12
4.27
1.84
5.2
2.6
1.17
1.19
mmol/l
—
5
12
5
12
4.27
1.84
5.2
2.6
101.40
108.00
mmol/l
—
5
12
63
479
1.54
1.79
10.1
9.6
—
—
—
0
0
41
284
1.61
1.73
4.4
3.2
1.41
1.55
mg/l
0.11
36
225
89
733
1.52
1.72
9.2
8.5
0.04
0.04
e9/l
0.13
79
629
39
269
1.61
1.67
4.2
3.5
369.66
334.29
umol/l
0.75
32
242
46
331
1.56
1.65
5.2
3.1
—
—
—
0
0
90
760
1.45
1.43
9.8
9.2
0.19
0.20
e9/l
0.01
82
670
22
136
1.72
1.42
17.5
10.4
24.42
23.81
mmol/l
0.58
22
136
6
23
2.67
1.38
11.0
18.7
10.85
10.42
%
—
6
23
6
23
2.67
1.38
8.3
2.5
1.75
1.45
mmol/l
—
6
23
5
17
3.00
1.37
1.2
1.8
—
—
—
0
0
5
17
3.00
1.37
1.8
1.2
—
—
—
0
0
0
38
0.00
1.36
0.0
4.1
—
26.35
—
0
26
0
38
0.00
1.36
0.0
4.2
—
495.56
—
0
27
14
76
1.93
1.35
17.9
16.5
1.16
1.13
mg/l
0.10
14
71
18
107
1.77
1.33
25.1
9.2
—
—
—
0
0
5
18
2.84
1.29
7.6
2.5
8.00
6.90
mmol/l
—
5
18
23
149
1.64
1.26
1.7
1.7
—
—
—
0
0
5
19
2.68
1.22
1.6
4.4
0.21
0.47
e9/l
—
5
19
11
57
2.00
1.20
1.7
2.0
—
—
—
0
0
34
245
1.50
1.20
4.3
3.0
585.07
532.35
mosm/kgh2o
0.45
29
216
6
26
2.36
1.20
2.3
4.9
22.07
35.83
%
—
6
26
5
113
0.42
1.18
3.6
1.6
—
—
—
0
0
5
114
0.42
1.18
4.0
1.6
—
—
—
0
0
94
818
1.39
1.15
11.2
12.5
4.29
3.85
e9/l
1.06
82
704
19
120
1.67
1.15
1.4
1.4
132.04
279.85
u/ml
0.52
19
112
55
438
1.40
1.15
9.5
9.0
—
—
—
0
0
21
137
1.62
1.13
8.4
3.3
9.20
10.07
g/l
0.45
21
127
5
108
0.44
1.05
3.6
1.6
—
—
—
0
0
46
360
1.40
1.05
4.9
4.3
7.39
7.39
ph
0.03
36
258
9
161
0.53
1.05
1.1
1.3
—
—
—
0
0
5
22
2.31
1.04
12.8
3.8
—
—
—
0
0
0
32
0.00
0.96
0.0
4.6
—
—
—
0
0
6
29
2.11
0.90
2.5
2.4
4.83
133.63
u/ml
—
6
29
6
29
2.11
0.90
1.8
2.2
19.83
33.07
ng/l
—
6
29
6
30
2.04
0.88
1.2
2.7
11.32
6.77
umol/l
—
6
22
16
233
0.65
0.85
1.8
1.3
5.70
6.05
u/ml
—
7
92
8
47
1.74
0.82
1.1
1.2
—
—
—
0
0
126
1179
1.40
0.80
37.1
19.2
13.89
13.36
%
3.62
126
1163
0
25
0.00
0.80
0.0
1.2
—
—
—
0
0
39
311
1.34
0.79
4.7
4.1
16.64
8.76
mg/mmol
0.21
29
197
5
24
2.12
0.75
1.6
1.5
—
—
—
0
0
5
26
1.95
0.71
1.6
4.2
3.28
4.21
e9/l
—
5
26
5
27
1.88
0.69
3.6
4.3
8.58
9.11
kpa
—
5
27
5
27
1.88
0.69
10.8
4.4
19.22
15.00
mu/l
—
5
27
5
27
1.88
0.69
3.6
4.3
4.96
4.83
kpa
—
5
27
13
86
1.56
0.68
2.1
2.0
—
—
—
0
0
50
427
1.25
0.61
1.5
1.6
—
—
—
0
0
0
22
0.00
0.60
0.0
6.3
—
—
—
0
0
6
36
1.69
0.57
1.3
1.4
—
—
—
0
0
140
1350
1.47
0.57
32.9
16.9
73.22
70.30
umol/l
0.71
140
1338
142
1455
0.63
0.57
42.9
22.4
133.38
135.88
g/l
1.08
142
1446
6
37
1.65
0.56
3.3
3.5
7.41
7.42
ph
—
6
37
142
1454
0.64
0.54
47.6
22.9
40.08
40.54
%
0.47
142
1446
142
1454
0.64
0.54
42.1
22.1
30.00
29.92
pg
0.21
142
1446
41
347
1.25
0.53
4.3
2.9
—
—
—
0
0
18
233
0.74
0.52
1.4
1.8
—
—
—
0
0
142
1453
0.65
0.51
42.2
22.1
90.24
89.40
fl
1.25
142
1445
7
46
1.55
0.49
2.0
2.4
—
—
—
0
0
31
369
0.80
0.48
3.7
3.9
0.00
0.00
estimate
-0.00
12
133
53
467
1.21
0.47
2.6
1.9
102.48
96.14
pmol/l
0.58
37
229
34
399
0.81
0.46
2.0
2.0
—
—
—
0
0
36
309
1.22
0.42
4.2
3.5
32.17
58.01
mg/l
0.39
29
205
0
15
0.00
0.41
0.0
18.9
—
1507.47
—
0
15
0
15
0.00
0.41
0.0
13.0
—
890.27
—
0
15
0
15
0.00
0.41
0.0
1.7
—
33.30
—
0
10
0
16
0.00
0.41
0.0
5.2
—
—
—
0
0
0
17
0.00
0.41
0.0
1.2
—
178.97
—
0
17
0
19
0.00
0.39
0.0
2.0
—
—
—
0
0
0
19
0.00
0.39
0.0
3.0
—
57.87
—
0
19
14
107
1.34
0.39
3.1
4.6
1.07
0.82
%
—
7
37
6
88
0.67
0.34
1.3
1.0
—
—
—
0
0
65
703
0.87
0.34
4.3
3.7
0.00
0.00
estimate
-0.00
11
133
6
46
1.32
0.33
1.5
2.9
57.72
58.47
%
—
6
46
24
281
0.83
0.32
1.8
1.9
—
—
—
0
0
7
53
1.34
0.31
5.1
5.8
36.99
36.95
°c
—
7
53
7
55
1.29
0.30
1.3
1.2
—
—
—
0
0
7
56
1.26
0.30
2.9
1.8
—
—
—
0
0
7
56
1.26
0.30
2.0
1.3
—
—
—
0
0
12
94
1.30
0.29
2.3
4.8
0.42
0.71
%
—
6
29
5
73
0.67
0.26
1.0
1.8
195.20
337.85
mu/l
—
5
67
18
151
1.22
0.26
1.5
1.4
—
—
—
0
0
70
656
1.12
0.26
15.9
12.8
0.00
0.00
e9/l
0.80
56
518
6
82
0.72
0.25
3.3
2.7
4.68
5.40
u/l
—
6
56
65
692
0.89
0.24
4.2
3.6
0.00
0.00
estimate
-0.00
13
139
66
702
0.89
0.24
4.2
3.6
0.00
0.00
estimate
-0.00
12
139
46
422
1.13
0.24
1.7
1.6
2.28
2.18
g/l
0.15
29
237
7
91
0.76
0.23
2.9
4.4
2.24
10.18
ug/l
—
7
67
13
156
0.82
0.22
1.4
1.2
—
—
—
0
0
11
89
1.25
0.21
1.1
1.3
—
—
—
0
0
0
10
0.00
0.21
0.0
1.1
—
214.00
—
0
10
0
10
0.00
0.21
0.0
2.1
—
66.60
—
0
10
42
386
1.12
0.21
3.6
3.2
1.09
0.24
e6/l
0.98
32
280
0
12
0.00
0.21
0.0
1.0
—
167.42
—
0
12
0
12
0.00
0.21
0.0
1.0
—
—
—
0
0
48
516
0.90
0.21
4.5
3.4
0.15
0.01
estimate
0.44
13
117
33
299
1.13
0.21
3.3
3.1
7.31
6.72
e6/l
0.08
28
276
0
13
0.00
0.21
0.0
1.4
—
—
—
0
0
0
13
0.00
0.21
0.0
1.2
—
—
—
0
0
0
13
0.00
0.21
0.0
4.9
—
3.11
—
0
13
0
13
0.00
0.21
0.0
1.2
—
—
—
0
0
12
99
1.23
0.20
3.2
4.8
0.00
0.20
%
—
5
30
37
341
1.11
0.18
3.5
4.8
—
—
—
0
0
47
439
1.10
0.18
4.0
3.5
10.27
45.57
e6/l
1.61
40
331
40
371
1.11
0.17
3.4
3.2
—
—
estimate
—
0
0
30
326
0.90
0.16
3.5
3.4
1.02
1.02
kg/l
0.30
17
210
48
509
0.92
0.16
2.8
2.7
—
—
—
0
0
9
79
1.15
0.15
6.2
6.0
7.34
7.35
ph
—
9
61
9
80
1.13
0.15
1.1
1.2
—
—
—
0
0
53
502
1.09
0.15
4.6
4.4
16.63
31.35
e6/l
1.13
43
345
29
314
0.91
0.14
1.8
1.7
—
—
—
0
0
8
97
0.82
0.14
2.6
1.7
—
—
—
0
0
8
100
0.79
0.14
3.0
1.5
—
—
—
0
0
116
1135
1.09
0.14
5.1
4.2
5.81
5.72
mmol/l
0.32
110
1053
9
109
0.81
0.13
3.0
2.3
11.90
20.49
iu/l
—
9
79
42
444
0.93
0.12
1.8
1.6
0.89
2.06
u/ml
—
10
101
17
153
1.13
0.11
1.5
1.3
—
—
—
0
0
5
45
1.11
0.10
1.4
1.4
—
—
—
0
0
16
175
0.90
0.09
1.3
1.3
—
—
—
0
0
6
56
1.07
0.09
1.3
1.4
—
—
—
0
0
6
57
1.05
0.08
3.0
1.8
181.00
164.76
u/ml
—
6
29
9
100
0.89
0.06
3.9
3.7
—
—
—
0
0
112
1107
1.04
0.05
6.7
5.3
38.74
37.99
mmol/mol
0.41
107
1051
11
120
0.91
0.05
1.2
1.4
—
—
—
0
0
13
120
1.09
0.05
1.6
1.3
180.40
148.45
u/ml
—
5
39
50
512
0.97
0.04
2.0
1.9
1.31
1.36
mmol/l
0.19
45
450
38
390
0.97
0.03
4.7
3.0
0.15
0.00
estimate
0.47
13
111
13
138
0.94
0.02
1.5
1.9
—
—
—
0
0
133
1322
1.05
0.02
30.2
14.8
22.03
21.60
mg/l
0.07
120
1056
23
238
0.96
0.02
1.9
1.6
—
—
—
0
0
12
114
1.06
0.01
2.9
2.3
10.18
13.11
nmol/l
0.61
12
108
136
1354
1.04
0.00
28.2
11.4
—
—
—
0
0
14
144
0.97
0.00
1.6
1.5
—
—
—
0
0
22
216
1.02
0.00
3.7
3.0
4.86
2.81
e6/l
0.19
13
107
57
572
0.99
0.00
4.0
3.3
6.42
6.23
ph
0.63
31
312
110
1103
0.99
0.00
4.5
3.8
1.19
1.26
mmol/l
0.58
105
1027
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
0.00
0.0
10.3
—
—
—
0
0
0
6
0.00
0.00
0.0
1.2
—
—
—
0
0
0
6
0.00
0.00
0.0
4.3
—
—
—
0
0
0
6
0.00
0.00
0.0
1.2
—
2.01
—
0
6
0
6
0.00
0.00
0.0
1.5
—
—
—
0
0
0
5
0.00
-0.00
0.0
35.6
—
0.44
—
0
5
0
8
0.00
-0.00
0.0
1.8
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.6
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.5
—
—
—
0
0
0
5
0.00
-0.00
0.0
3.0
—
28.40
—
0
5
0
7
0.00
-0.00
0.0
1.0
—
158.67
—
0
7
0
7
0.00
-0.00
0.0
1.0
—
—
—
0
0
6
62
0.97
-0.00
2.3
2.0
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.8
—
2.18
—
0
5
0
9
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
8
0.00
-0.00
0.0
7.1
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
8
0.00
-0.00
0.0
2.1
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.3
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.0
—
—
—
0
0
5
52
0.96
-0.00
1.2
1.6
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
-0.00
0.0
6.0
—
8.00
—
0
5
8
84
0.95
-0.00
5.4
4.2
1.25
1.23
mmol/l
—
8
71

Mortality – FinRegistry

Association

Association between endpoint Q17_AVSD and mortality.

Females

Parameter HR [95% CI] p-value
Q17_AVSD 4.493 [3.29, 6.14] < 0.001
Birth year 0.994 [0.99, 1.0] 0.172

During the follow-up period (1.1.1998 — 31.12.2019), 95 out of 688 females with Q17_AVSD died.

Males

Parameter HR [95% CI] p-value
Q17_AVSD 4.775 [3.37, 6.76] < 0.001
Birth year 0.985 [0.98, 0.99] 0.003

During the follow-up period (1.1.1998 — 31.12.2019), 82 out of 494 males with Q17_AVSD died.

Mortality risk

Mortality risk for people of age

years, who have Q17_AVSD.

N-year risk Females Males
1 0.368% 0.978%
5 2.179% 6.07%
10 6.341% 13.382%
15 11.155% 23.091%
20 19.056% 36.039%

Relationships between endpoints

Index endpoint: Q17_AVSD – Atrioventricular septal defect

GWS hits: -

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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