Atrioventricular septal defect

Q17_AVSD

Endpoint definition

Report an error or suggest an improvement for this endpoint codes

Endpoint definition steps

FinnGen

Phenotype data

519972

1. Apply sex-specific rule

None

519972

2. Check conditions

None

519972

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.

150

4. Check minimum number of events

None

150

5. Include endpoints

None

150

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 88 55
Unadjusted period prevalence (%) 0.03 0.03 0.03
Median age at first event (years) 32.21 30.39 35.12

-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
150
Matched controls
1500
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
FM1BE
NOMESCO Finland
Cardiac ultrasound examination through oesophagus
43.0
110.0
76
35
Q21.10
ICD-10 Finland
Persistent ostium secundum
80.4
106.2
59
12
201
Kela drug reimbursment
Chronic cardiac insufficiency
36.3
75.1
51
21
Q21.20
ICD-10 Finland
Atrial septal defect of primum type
+∞
73.0
64
*
FXA00
NOMESCO Finland
Total cardiopulmonary bypass in normothermia or moderate hypothermia at concurrent surgical procedure
34.8
70.2
48
20
Q21.21
ICD-10 Finland
Atrioventricular duct
+∞
64.3
57
*
FM1AE
NOMESCO Finland
Standard cardiac ultrasound examination
13.3
56.7
75
105
XF404
NOMESCO Finland
Ambulatory ECG
15.6
49.9
51
48
FM1EE
NOMESCO Finland
Extensive structural and functional ultrasound examination of heart
9.5
44.0
86
186
B01AA03
ATC
warfarin; systemic
11.2
41.7
55
74
Q21.29
ICD-10 Finland
Atrioventricular septal defect UNS
+∞
31.4
29
*
Q21.19
ICD-10 Finland
Atrial septal defect NOS
193.7
30.9
31
*
GD1UA
NOMESCO Finland
Thorax X-ray examination outside radiological department
7.6
30.8
58
115
C01AA05
ATC
digoxin; systemic
33.4
29.3
38
15
FM1DE
NOMESCO Finland
Doppler ultrasound examination of heart
8.9
29.0
43
65
TFC00
NOMESCO Finland
Catheterisation of right atrium or ventricle
170.7
27.7
28
*
WX872
NOMESCO Finland
Intensive care
27.4
26.3
36
17
C03CA01
ATC
furosemide; systemic
6.2
26.2
63
156
XF400
NOMESCO Finland
ECG with 12 standard connections
6.2
25.0
57
134
XF620
NOMESCO Finland
Examination of circulation with color method
148.8
24.4
25
*
GD1AA
NOMESCO Finland
Thorax X-ray examination
5.5
23.6
96
367
WX700
NOMESCO Finland
Respiratory and circulatory monitoring
6.1
23.5
54
127
I48
ICD-10 Finland
Atrial fibrillation and flutter
7.0
23.5
43
81
FN1AC
NOMESCO Finland
Angiography of heart and/or coronary arteries
6.4
22.9
48
103
XF402
NOMESCO Finland
ECG with work load test
8.5
22.7
33
48
FFC22
NOMESCO Finland
Percutaneous transluminal closure of ostium secundum type ASD
89.6
21.3
23
*
TPH04
NOMESCO Finland
Cathetrisation of vein
5.3
20.8
57
155
Q21.2
ICD-10 Finland
Atrioventricular septal defect
+∞
20.3
19
*
Q21.11
ICD-10 Finland
Paten or persistent foramen ovale
32.9
19.5
25
9
I34.09
ICD-10 Finland
Mitral (valve) insufficiency
16.7
19.3
31
23
I50.9
ICD-10 Finland
Heart failure, unspecified
7.3
19.1
32
54
TFP20
NOMESCO Finland
Cardiodefibrillation
8.7
17.5
24
32
TPH07
NOMESCO Finland
Cathetrisation of artery
6.0
17.4
36
75
C03DA01
ATC
spironolactone; oral
6.0
17.2
35
72
ZXE30
NOMESCO Finland
More than five and less than seven hours
8.5
17.1
24
33
31
HP
Congenital heart failure surgery
101.6
17.0
18
*
Q21.00
ICD-10 Finland
Multiple ventricular septal defect
54.0
16.4
19
*
207
Kela drug reimbursment
Chronic arrhythmias
6.2
16.4
32
63
7456C
ICD-9 Finland
Bulbus cordis anomalies and anomalies of cardiac septal closure, Endocardial cushion defects[ASD CANALIS ATRIOVENTRICULARIS COMMUNIS]
+∞
15.9
15
*
TPH15
NOMESCO Finland
Insertion of central venous catheter through external or internal jugular vein
6.5
15.4
28
51
WX704
NOMESCO Finland
Intubation
6.5
15.4
28
51
FM1DG
NOMESCO Finland
Very extensive MRI examination of heart with high intesity magnet
25.4
14.7
20
9
XFP20
NOMESCO Finland
Check up of cardiac pacemaker
14.8
14.5
24
19
I34.00
ICD-10 Finland
Mitral (valve) incompetence NOS or of specified cause, except rheumatic
47.6
14.4
17
*
FFC00
NOMESCO Finland
Suture of ostium secundum type ASD
59.2
14.1
16
*
Q21.09
ICD-10 Finland
Ventricular septal defect NOS
44.3
13.4
16
*
TFB00
NOMESCO Finland
Cathetrisation of pulmonal artery
76.5
12.8
14
*
Q90.9
ICD-10 Finland
Down syndrome, unspecified
+∞
12.7
12
*
Q90.0
ICD-10 Finland
Trisomy 21, meiotic nondisjunction
141.3
12.6
13
*
Z95.0
ICD-10 Finland
Presence of electronic cardiac devices
14.2
12.6
21
17
WX408
NOMESCO Finland
General anesthesy, balanced
3.5
12.5
64
262
I63.9
ICD-10 Finland
Cerebral infarction, unspecified
6.0
12.0
23
44
ZXE20
NOMESCO Finland
More than three and less than five hours
4.4
11.7
35
98
7455A
ICD-9 Finland
Bulbus cordis anomalies and anomalies of cardiac septal closure, Ostium secundum type atrial septal defect
+∞
11.6
11
*
74646
ICD-8 Finland
Congenital anomalies of heart, Defectus septi atriorum, ostium primum
+∞
11.6
11
*
I69.3
ICD-10 Finland
Sequelae of cerebral infarction
6.3
11.5
21
38
Z2221
NOMESCO Finland
Medical doctor
3.3
11.5
66
287
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
WX892
NOMESCO Finland
Monitored bed care
5.1
10.7
25
57
WX882
NOMESCO Finland
High dependency care
5.8
10.7
21
41
Z45.0
ICD-10 Finland
Adjustment and management of cardiac devices
20.6
10.5
15
8
XA800
NOMESCO Finland
Neuropsychological investigation
5.7
10.4
21
42
62
HP
Catheterization and pressure measurement of the right side of the heart
58.9
9.8
11
*
K78
ICPC
Atrial fibrillation/flutter
9.1
9.7
20
25
AN1
HP
Coronary angiography
5.5
9.6
20
41
Q20.48
ICD-10 Finland
Single ventricle
106.5
9.5
10
*
XFE00
NOMESCO Finland
Epicardial ultrasonography
23.5
9.5
13
6
AF1
HP
Surgery of congenital heart defect
+∞
9.5
9
*
FFD20
NOMESCO Finland
Closure of atrio-ventricular septal defect using patch
+∞
9.5
9
*
7580A
ICD-9 Finland
Chromosomal anomalies, Down's syndrome
+∞
9.5
9
*
Q21.28
ICD-10 Finland
Atrioventricular septal defect
+∞
9.5
9
*
C07AB07
ATC
bisoprolol; oral
2.9
9.4
67
323
J18.9
ICD-10 Finland
Pneumonia, unspecified
3.3
9.3
45
174
FN1BC
NOMESCO Finland
Extensive angiography of hear and/or coronary arteries
9.1
8.9
18
22
WX725
NOMESCO Finland
Noninvasive ventilation
7.2
8.9
21
33
61
HP
Catheterization and pressure measurement of the left side of the heart
21.6
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
18.5
8.2
12
7
XF622
NOMESCO Finland
Measurement of minute volume of heart
35.5
8.2
10
*
I50.0
ICD-10 Finland
Congestive heart failure
8.6
8.1
17
22
FM2CE, ,
NOMESCO Finland
8.6
8.1
17
22
ZX120
NOMESCO Finland
Intravenous
4.0
8.1
25
71
C07AA07
ATC
sotalol; systemic
14.1
8.0
13
10
C01BD01
ATC
amiodarone; systemic
16.2
7.9
12
8
J96.1
ICD-10 Finland
Chronic respiratory failure
47.5
7.8
9
*
Q25.0
ICD-10 Finland
Patent ductus arteriosus
26.6
7.7
10
*
FM1CG
NOMESCO Finland
Extensive examination of hear with high intensity magnet
84.1
7.5
8
*
ZXD05
NOMESCO Finland
Urgent procedure
2.7
7.4
58
288
74647
ICD-8 Finland
Congenital anomalies of heart, Ostium atrioventriculare commune
+∞
7.3
7
*
74663
ICD-8 Finland
Congenital anomalies of heart, Stenosis valvulae pulmonalis
+∞
7.3
7
*
FFC42
NOMESCO Finland
Percutaneous closure of patent foramen ovale
+∞
7.3
7
*
ZXE10
NOMESCO Finland
More than one and less than three hours
2.6
7.3
64
334
XF600
NOMESCO Finland
Bloodpressure measurement
4.1
7.3
22
61
C09AA02
ATC
enalapril; systemic
3.4
7.3
29
98
G04BE03
ATC
sildenafil; oral
31.7
7.2
9
*
I48.9
ICD-10 Finland
Atrial fibrillation and atrial flutter, unspecified
8.2
7.1
15
20
Z03.5
ICD-10 Finland
Observation for other suspected cardiovascular diseases
3.8
6.9
23
69
Q21.9
ICD-10 Finland
Congenital malformation of cardiac septum, unspecified
42.0
6.8
8
*
WX404
NOMESCO Finland
Intravenous generell anesthesy
2.7
6.8
49
232
D50.9
ICD-10 Finland
Iron deficiency anaemia, unspecified
4.5
6.7
17
41
B01AC04
ATC
clopidogrel; oral
3.7
6.7
23
70
I47.2
ICD-10 Finland
Ventricular tachycardia
13.1
6.7
11
9
XF640, ,
NOMESCO Finland
10.7
6.7
12
12
FPE20
NOMESCO Finland
Implantation of transvenous cardiac pacemaker with atrial and ventricular electrodes
15.2
6.5
10
7
I48.2
ICD-10 Finland
Chronic atrial fibrillation
15.2
6.5
10
7
UGC02
NOMESCO Finland
Rigid bronchoscopy
72.8
6.5
7
*
Q21.30
ICD-10 Finland
Tetralogy of Fallot
72.8
6.5
7
*
AP2
HP
Catheterization of the right side of the heart
72.8
6.5
7
*
FPE30
NOMESCO Finland
Replacement of transvenous cardiac pacemaker pulse generator
72.8
6.5
7
*
AA1AD
NOMESCO Finland
CT of head and brain
2.8
6.4
40
175
WX720
NOMESCO Finland
Own respiration
7.6
6.4
14
20
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
28.0
6.3
8
*
7454A
ICD-9 Finland
Bulbus cordis anomalies and anomalies of cardiac septal closure, Ventricular septal defect[DEFECTUS SEPTI VENTRICULORUM NUD]
+∞
6.3
6
*
AP3
HP
Catheterization of the right and left side of the heart
+∞
6.3
6
*
I48.4
ICD-10 Finland
Atypical atrial flutter
+∞
6.3
6
*
Q20.3
ICD-10 Finland
Discordant ventriculoarterial connection
+∞
6.3
6
*
74639
ICD-8 Finland
Congenital anomalies of heart, Defectus septi ventriculorum
+∞
6.3
6
*
74642
ICD-8 Finland
Congenital anomalies of heart, Defectus septi atriorum, ostium secundum
+∞
6.3
6
*
Q21.1
ICD-10 Finland
Atrial septal defect
+∞
6.3
6
*
I37.1
ICD-10 Finland
Pulmonary valve insufficiency
+∞
6.3
6
*
I27.0
ICD-10 Finland
Primary pulmonary hypertension
+∞
6.3
6
*
Z01.8
ICD-10 Finland
Other specified special examinations
2.7
6.1
39
172
Z3226
NOMESCO Finland
Physiotherapist
2.6
6.0
43
201

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
26
46
6.63
14.71
21.2
21.3
—
—
—
0
0
53
188
3.81
12.92
5.5
3.4
739.40
158.55
ng/l
1.04
45
120
36
99
4.47
12.40
16.3
14.1
0.77
1.34
mmol/l
0.36
31
80
84
416
3.32
11.87
40.4
9.7
1.75
1.14
inr
2.38
22
133
28
72
4.55
10.41
4.2
6.8
21.86
22.51
s
0.29
22
65
23
55
4.76
9.30
3.6
12.5
—
—
—
0
0
18
31
6.45
7.18
4.9
19.9
1.02
1.30
mmol/l
1.08
18
26
34
141
2.83
6.00
3.0
1.8
—
—
—
0
0
103
717
2.39
5.77
5.8
3.1
—
—
—
0
0
36
157
2.70
5.77
3.0
2.2
—
—
—
0
0
37
165
2.65
5.67
5.2
2.4
13.75
13.63
umol/l
0.03
37
154
8
8
10.47
4.57
2.0
3.3
0.65
0.71
nmol/l
—
8
8
26
108
2.70
4.53
3.7
4.1
0.20
0.22
g/l
0.51
26
103
27
124
2.44
3.83
9.6
11.0
104.67
104.38
mmol/l
0.15
27
124
45
264
2.01
3.50
5.1
5.1
—
—
—
0
0
10
23
4.58
3.37
12.3
19.3
—
—
—
0
0
78
556
1.84
3.33
15.1
10.6
1.20
1.22
mmol/l
2.20
73
483
73
514
1.82
3.21
20.5
10.6
1.20
1.22
mmol/l
1.95
73
480
27
135
2.22
3.15
29.9
12.0
—
—
—
0
0
53
344
1.84
3.00
4.6
3.0
—
—
—
0
0
27
138
2.17
2.99
33.2
14.8
25.49
24.94
mmol/l
0.52
27
138
6
9
6.89
2.89
1.7
1.2
—
—
—
0
0
21
98
2.33
2.87
3.4
4.1
82.52
67.31
e9/l
2.29
15
72
5
6
8.56
2.77
2.8
1.0
—
—
—
0
0
53
352
1.78
2.74
5.5
3.4
33.79
32.17
ng/l
0.03
37
212
5
7
7.34
2.57
2.0
17.3
140.40
173.00
mg/l
—
5
7
40
250
1.82
2.51
4.3
3.3
1.44
1.43
mg/l
0.00
35
195
6
12
5.16
2.42
4.5
2.6
4.07
4.04
mmol/l
—
6
12
5
8
6.42
2.39
1.0
1.4
9.80
9.75
umol/l
—
5
8
25
419
0.52
2.39
2.3
1.9
—
—
—
0
0
134
1196
2.13
2.19
33.5
14.7
139.18
139.57
mmol/l
1.04
134
1164
83
654
1.60
2.12
8.7
8.0
0.67
0.56
e9/l
1.86
75
570
134
1200
2.09
2.11
33.4
14.8
4.00
3.94
mmol/l
1.83
134
1167
85
677
1.59
2.05
8.6
7.9
1.69
2.01
e9/l
3.41
79
606
5
11
4.66
1.95
1.8
1.3
—
—
—
0
0
82
654
1.56
1.92
8.8
8.0
0.04
0.04
e9/l
0.11
74
569
78
616
1.55
1.91
8.5
8.6
—
—
—
0
0
7
22
3.28
1.90
16.3
19.0
75.73
68.60
%
—
7
22
6
17
3.63
1.85
8.3
2.6
1.75
1.24
mmol/l
—
6
17
5
12
4.27
1.84
5.2
2.6
101.40
108.00
mmol/l
—
5
12
5
12
4.27
1.84
5.2
2.6
—
—
—
0
0
7
23
3.14
1.82
2.7
4.4
—
—
—
0
0
36
241
1.65
1.74
3.9
3.4
22449.24
3519.03
umol/l
0.40
29
213
83
676
1.51
1.69
9.4
8.9
0.20
0.19
e9/l
0.06
77
598
8
31
2.67
1.68
4.6
3.4
—
—
—
0
0
7
25
2.89
1.67
9.4
2.7
—
—
—
0
0
43
307
1.56
1.60
4.3
4.3
7.41
7.41
ph
—
7
54
5
15
3.41
1.53
7.6
2.7
8.00
7.08
mmol/l
—
5
15
18
102
1.87
1.53
1.2
1.4
157.89
170.22
u/ml
0.05
18
93
6
22
2.80
1.45
2.0
5.0
21.77
34.02
%
—
6
22
5
17
3.00
1.37
1.2
1.8
—
—
—
0
0
11
54
2.12
1.36
11.6
11.7
0.60
0.68
%
0.33
11
54
21
130
1.72
1.35
1.8
1.6
—
—
—
0
0
8
156
0.49
1.34
1.1
1.3
—
—
—
0
0
33
232
1.54
1.30
4.3
3.0
610.61
544.59
mosm/kgh2o
0.63
28
202
17
101
1.77
1.26
26.4
9.2
—
—
—
0
0
10
49
2.12
1.25
1.5
1.7
—
—
—
0
0
5
19
2.69
1.22
1.6
4.4
212.80
472.63
e6/l
—
5
19
88
756
1.40
1.19
10.6
11.5
4.33
3.86
e9/l
1.07
77
657
0
33
0.00
1.17
0.0
4.3
—
3.35
—
0
23
0
33
0.00
1.17
0.0
4.4
—
557.17
—
0
24
5
20
2.55
1.16
10.0
4.3
18.74
16.93
mu/l
—
5
20
34
247
1.49
1.16
6.0
3.3
—
—
—
0
0
18
114
1.66
1.08
9.3
3.3
8.94
9.83
g/l
0.39
18
105
5
22
2.31
1.04
12.8
3.8
—
—
—
0
0
33
246
1.44
0.99
4.5
3.7
19.13
10.27
mg/mmol
0.20
25
152
13
202
0.61
0.91
1.3
1.6
—
—
—
0
0
46
371
1.35
0.87
3.5
3.3
9.80
46.19
e6/l
1.40
38
289
42
337
1.34
0.82
3.3
3.1
1.09
0.24
e6/l
0.99
32
258
5
97
0.50
0.81
3.6
1.5
—
—
—
0
0
5
98
0.49
0.81
4.0
1.5
—
—
—
0
0
0
27
0.00
0.78
0.0
4.9
—
—
—
0
0
40
322
1.33
0.76
4.0
2.7
—
—
—
0
0
14
92
1.58
0.75
2.6
4.2
1.07
0.85
%
—
7
37
5
25
2.03
0.73
1.6
4.3
57.20
57.88
%
—
5
25
5
25
2.03
0.73
1.6
4.3
3.28
4.16
e9/l
—
5
25
5
26
1.95
0.71
1.8
2.5
4.36
148.78
u/ml
—
5
26
12
77
1.61
0.71
1.8
4.4
0.42
0.76
%
—
6
27
5
93
0.52
0.69
3.6
1.5
—
—
—
0
0
5
27
1.88
0.69
2.0
2.1
—
—
—
0
0
5
27
1.88
0.69
3.6
4.3
4.96
4.83
kpa
—
5
27
5
27
1.88
0.69
3.6
4.3
8.58
9.11
kpa
—
5
27
5
28
1.81
0.67
1.2
2.9
12.94
6.29
umol/l
—
5
20
7
44
1.62
0.66
2.0
2.4
—
—
—
0
0
21
276
0.72
0.66
3.1
3.4
—
—
—
0
0
88
798
1.25
0.63
5.9
4.0
—
—
—
0
0
5
30
1.69
0.62
1.2
1.4
—
—
—
0
0
0
20
0.00
0.61
0.0
6.4
—
—
—
0
0
45
380
1.26
0.60
1.4
1.5
—
—
—
0
0
29
231
1.32
0.60
4.1
3.3
38.00
80.81
mg/l
0.47
24
149
40
335
1.26
0.57
3.2
3.1
—
—
—
0
0
10
66
1.55
0.54
1.5
1.3
—
—
—
0
0
43
366
1.25
0.54
2.5
1.7
101.46
97.39
pmol/l
0.26
31
178
6
39
1.56
0.53
11.0
2.7
—
—
—
0
0
50
433
1.23
0.53
4.1
4.0
10.96
35.73
e6/l
2.47
40
307
26
318
0.78
0.50
3.5
3.7
0.00
0.00
estimate
—
9
117
12
85
1.45
0.48
2.7
4.4
0.00
0.20
%
—
5
30
15
195
0.74
0.45
1.5
1.3
5.70
6.30
u/ml
—
7
80
7
51
1.39
0.44
1.3
1.2
—
—
—
0
0
31
260
1.24
0.44
3.0
2.9
7.56
5.11
e6/l
0.38
26
239
5
31
1.63
0.43
1.4
1.4
—
—
—
0
0
0
15
0.00
0.41
0.0
1.3
—
285.73
—
0
15
0
15
0.00
0.41
0.0
1.2
—
115.43
—
0
15
0
16
0.00
0.41
0.0
2.6
—
64.72
—
0
16
40
348
1.20
0.41
11.9
10.2
—
—
—
0
0
0
18
0.00
0.40
0.0
2.1
—
—
—
0
0
0
18
0.00
0.40
0.0
1.2
—
—
—
0
0
0
19
0.00
0.39
0.0
1.4
—
—
—
0
0
16
125
1.31
0.39
1.5
1.4
—
—
—
0
0
37
420
0.84
0.36
2.6
2.4
—
—
—
0
0
31
356
0.84
0.34
1.9
1.9
—
—
—
0
0
6
46
1.32
0.33
5.3
5.6
—
—
—
0
0
139
1417
0.74
0.33
37.4
18.7
6.53
6.67
e9/l
0.37
139
1375
139
1417
0.74
0.33
37.9
18.8
133.60
135.92
g/l
0.93
139
1401
110
1054
1.16
0.31
4.4
3.7
5.84
5.73
mmol/l
0.41
103
971
139
1416
0.75
0.31
37.3
18.7
4.51
4.56
e12/l
0.51
139
1375
139
1416
0.75
0.31
37.2
18.6
29.96
29.84
pg
0.31
139
1401
139
1415
0.76
0.29
37.2
18.6
90.09
89.18
fl
1.36
139
1400
139
1415
0.76
0.29
40.7
19.0
39.16
40.41
%
1.01
129
1353
9
73
1.25
0.26
6.2
6.2
—
—
—
0
0
9
76
1.20
0.25
1.1
1.2
—
—
—
0
0
6
82
0.72
0.25
1.3
1.0
—
—
—
0
0
133
1301
1.20
0.23
26.1
10.5
—
—
—
0
0
8
101
0.78
0.22
1.3
1.4
—
—
—
0
0
0
10
0.00
0.21
0.0
2.1
—
66.60
—
0
10
0
12
0.00
0.21
0.0
1.4
—
—
—
0
0
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
0
13
0.00
0.21
0.0
1.6
—
—
—
0
0
0
13
0.00
0.21
0.0
1.2
—
—
—
0
0
0
13
0.00
0.21
0.0
5.5
—
—
—
0
0
0
13
0.00
0.21
0.0
1.2
—
—
—
0
0
0
13
0.00
0.21
0.0
4.8
—
3.13
—
0
13
21
238
0.86
0.20
1.8
1.8
—
—
—
0
0
0
14
0.00
0.20
0.0
17.5
—
1452.64
—
0
14
0
14
0.00
0.20
0.0
11.1
—
792.21
—
0
14
6
50
1.21
0.20
3.0
1.8
—
—
—
0
0
6
50
1.21
0.20
2.8
1.9
181.00
147.79
u/ml
—
6
28
63
595
1.10
0.19
14.8
11.2
0.00
0.00
e9/l
0.50
50
473
129
1263
1.15
0.19
27.2
12.8
19.50
20.89
mg/l
0.23
117
958
36
390
0.90
0.18
1.7
1.6
0.78
1.87
u/ml
—
8
87
5
66
0.75
0.17
1.0
1.8
195.20
322.92
mu/l
—
5
60
55
581
0.92
0.17
4.0
3.4
0.00
0.00
estimate
—
9
111
8
97
0.81
0.14
4.0
3.6
—
—
—
0
0
55
575
0.93
0.12
6.1
4.6
0.00
0.00
estimate
—
10
117
101
986
1.07
0.12
6.1
4.8
38.99
38.57
mmol/mol
0.18
96
929
56
582
0.94
0.10
3.9
3.4
0.00
0.00
estimate
-0.00
11
118
39
370
1.07
0.10
1.6
1.6
2.22
2.08
g/l
0.19
23
201
119
1172
1.07
0.09
35.0
16.8
331.74
334.11
g/l
1.74
119
1167
6
53
1.14
0.09
2.2
1.3
—
—
—
0
0
102
1039
0.94
0.09
4.2
3.5
1.18
1.26
mmol/l
0.73
97
960
12
133
0.89
0.08
1.4
1.2
—
—
—
0
0
20
186
1.09
0.08
3.7
2.8
4.86
2.85
e6/l
0.18
13
105
8
77
1.04
0.07
4.9
4.2
1.25
1.23
mmol/l
—
8
66
7
80
0.87
0.07
2.7
3.2
—
—
—
0
0
8
93
0.85
0.07
3.0
1.5
—
—
—
0
0
26
274
0.94
0.06
1.7
1.7
—
—
—
0
0
12
127
0.94
0.01
1.4
1.9
—
—
—
0
0
21
204
1.03
0.00
1.9
1.5
—
—
—
0
0
12
121
0.99
0.00
1.5
1.4
—
—
—
0
0
15
151
0.99
0.00
1.3
1.3
—
—
—
0
0
14
137
1.02
0.00
1.5
1.3
—
—
—
0
0
33
328
1.01
0.00
4.4
3.0
—
—
—
0
0
0
5
0.00
0.00
0.0
1.4
—
—
—
0
0
0
5
0.00
0.00
0.0
35.6
—
0.44
—
0
5
0
8
0.00
0.00
0.0
1.5
—
—
—
0
0
0
7
0.00
0.00
0.0
1.0
—
—
—
0
0
0
8
0.00
0.00
0.0
1.5
—
—
—
0
0
0
7
0.00
0.00
0.0
1.0
—
—
—
0
0
0
8
0.00
0.00
0.0
6.6
—
—
—
0
0
0
5
0.00
0.00
0.0
1.4
—
—
—
0
0
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
0.00
0.0
3.0
—
—
—
0
0
0
8
0.00
0.00
0.0
1.4
—
—
—
0
0
0
8
0.00
0.00
0.0
1.3
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.7
—
—
—
0
0
7
77
0.90
-0.00
1.0
1.3
—
—
—
0
0
0
6
0.00
-0.00
0.0
4.3
—
—
—
0
0
0
6
0.00
-0.00
0.0
9.5
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.2
—
2.01
—
0
6
0
6
0.00
-0.00
0.0
1.0
—
—
—
0
0
6
60
1.00
-0.00
2.3
2.0
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.5
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.1
—
212.56
—
0
9
8
85
0.94
-0.00
2.4
1.7
—
—
—
0
0
7
78
0.89
-0.00
2.7
4.4
2.24
10.33
ug/l
—
7
56
0
6
0.00
-0.00
0.0
1.0
—
163.94
—
0
6
0
6
0.00
-0.00
0.0
17.7
—
8.74
—
0
6
8
87
0.92
-0.00
3.0
2.4
13.07
21.04
iu/l
—
8
64
0
6
0.00
-0.00
0.0
2.2
—
—
—
0
0

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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