Atrioventricular septal defect

Q17_AVSD

Endpoint definition

Endpoint definition steps

FinnGen

Phenotype data

520210

1. Apply sex-specific rule

None

520210

2. Check conditions

None

520210

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.

144

4. Check minimum number of events

None

144

5. Include endpoints

None

144

6. Filter based on genotype QC (FinnGen only)

144

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 144 90 54
Unadjusted period prevalence (%) 0.03 0.03 0.02
Median age at first event (years) 28.38 24.60 34.67

-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 (R11)

CodeWAS is a tool for exploring the associations between an endpoint and all of the medical codes and drug codes.

This is a new tool, please reach out using the contact form for feedback and improvement ideas.

First, a cohort is built by matching controls to the endpoint cases using year of birth and sex. Then, a Fisher test is done for all the medical codes and drug codes between the cases and controls of this cohort. Codes are reported in the table below if they have −log10(p-value) ≥ 6.

Matched cohort

Matched cases
132
Matched controls
1321
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
Q21.20
ICD-10 Finland
Atrial septal defect of primum type
+∞
63.8
56
*
Q21.21
ICD-10 Finland
Atrioventricular duct
+∞
58.8
52
*
FM1BE
NOMESCO Finland
Cardiac ultrasound examination through oesophagus
33.3
47.6
64
36
Q21.10
ICD-10 Finland
Persistent ostium secundum
64.7
45.9
52
13
201
Kela drug reimbursment
Chronic cardiac insufficiency
59.7
40.9
47
12
FM1AE
NOMESCO Finland
Standard cardiac ultrasound examination
13.0
32.8
66
94
FM1EE
NOMESCO Finland
Extensive structural and functional ultrasound examination of heart
11.0
31.8
73
133
FXA00
NOMESCO Finland
Total cardiopulmonary bypass in normothermia or moderate hypothermia at concurrent surgical procedure
26.8
31.5
44
24
XF404
NOMESCO Finland
Ambulatory ECG
15.4
26.7
46
44
TFC00
NOMESCO Finland
Catheterisation of right atrium or ventricle
107.0
24.7
26
*
C01AA05
ATC
digoxin; systemic
30.6
23.5
31
13
Q21.19
ICD-10 Finland
Atrial septal defect NOS
64.0
23.0
26
5
Q21.29
ICD-10 Finland
Atrioventricular septal defect UNS
+∞
22.5
21
*
XF620
NOMESCO Finland
Examination of circulation with color method
137.9
22.3
23
*
B01AA03
ATC
warfarin; systemic
10.5
22.3
47
66
GD1UA
NOMESCO Finland
Thorax X-ray examination outside radiological department
8.6
20.7
50
87
Q21.2
ICD-10 Finland
Atrioventricular septal defect
+∞
19.2
18
*
FFC22
NOMESCO Finland
Percutaneous transluminal closure of ostium secundum type ASD
116.8
19.1
20
*
I34.09
ICD-10 Finland
Mitral (valve) insufficiency
30.4
19.1
25
10
C03CA01
ATC
furosemide; systemic
6.7
17.7
52
117
XF400
NOMESCO Finland
ECG with 12 standard connections
6.3
17.2
53
127
WX872
NOMESCO Finland
Intensive care
16.6
16.9
27
20
GD1AA
NOMESCO Finland
Thorax X-ray examination
4.9
16.4
80
317
Q21.00
ICD-10 Finland
Multiple ventricular septal defect
68.8
16.2
18
*
FN1AC
NOMESCO Finland
Angiography of heart and/or coronary arteries
6.9
16.0
44
89
WX700
NOMESCO Finland
Respiratory and circulatory monitoring
6.2
15.5
47
108
31
HP
Congenital heart failure surgery
64.4
15.2
17
*
C03DA01
ATC
spironolactone; oral
9.8
14.9
31
40
7456C
ICD-9 Finland
Bulbus cordis anomalies and anomalies of cardiac septal closure, Endocardial cushion defects[ASD CANALIS ATRIOVENTRICULARIS COMMUNIS]
+∞
14.9
14
*
FM1DG
NOMESCO Finland
Very extensive MRI examination of heart with high intesity magnet
48.3
14.5
17
*
I48
ICD-10 Finland
Atrial fibrillation and flutter
7.3
14.4
37
67
Q21.11
ICD-10 Finland
Paten or persistent foramen ovale
27.4
14.2
19
8
FM1DE
NOMESCO Finland
Doppler ultrasound examination of heart
7.5
13.4
33
56
Q90.0
ICD-10 Finland
Trisomy 21, meiotic nondisjunction
142.9
12.7
13
*
XF402
NOMESCO Finland
ECG with work load test
7.3
12.5
31
53
7455A
ICD-9 Finland
Bulbus cordis anomalies and anomalies of cardiac septal closure, Ostium secundum type atrial septal defect
+∞
11.6
11
*
Q90.9
ICD-10 Finland
Down syndrome, unspecified
130.9
11.6
12
*
TFP20
NOMESCO Finland
Cardiodefibrillation
11.7
11.5
21
21
TPH04
NOMESCO Finland
Cathetrisation of vein
4.5
11.4
46
140
I34.00
ICD-10 Finland
Mitral (valve) incompetence NOS or of specified cause, except rheumatic
47.7
11.1
13
*
FFC00
NOMESCO Finland
Suture of ostium secundum type ASD
31.0
11.0
14
5
62
HP
Catheterization and pressure measurement of the right side of the heart
+∞
10.5
10
*
XFP20
NOMESCO Finland
Check up of cardiac pacemaker
11.5
10.4
19
19
207
Kela drug reimbursment
Chronic arrhythmias
6.6
10.0
26
47
Q21.09
ICD-10 Finland
Ventricular septal defect NOS
28.5
10.0
13
5
61
HP
Catheterization and pressure measurement of the left side of the heart
59.4
9.8
11
*
Z95.0
ICD-10 Finland
Presence of electronic cardiac devices
13.8
9.6
16
13
Q21.08
ICD-10 Finland
Other specifed ventricular septal defect
19.3
9.6
14
8
Q20.48
ICD-10 Finland
Single ventricle
107.3
9.5
10
*
7580A
ICD-9 Finland
Chromosomal anomalies, Down's syndrome
+∞
9.5
9
*
FFD20
NOMESCO Finland
Closure of atrio-ventricular septal defect using patch
+∞
9.5
9
*
74646
ICD-8 Finland
Congenital anomalies of heart, Defectus septi atriorum, ostium primum
+∞
9.5
9
*
WX408
NOMESCO Finland
General anesthesy, balanced
3.4
9.3
58
248
TPH15
NOMESCO Finland
Insertion of central venous catheter through external or internal jugular vein
6.3
9.0
24
45
C07AA07
ATC
sotalol; systemic
17.8
8.7
13
8
FN1BC
NOMESCO Finland
Extensive angiography of hear and/or coronary arteries
10.5
8.6
16
17
AF1
HP
Surgery of congenital heart defect
+∞
8.4
8
*
Q21.28
ICD-10 Finland
Atrioventricular septal defect
+∞
8.4
8
*
Z45.0
ICD-10 Finland
Adjustment and management of cardiac devices
15.8
8.4
13
9
C07AB07
ATC
bisoprolol; oral
3.1
8.2
57
257
FM2CE
NOMESCO Finland
NA
8.7
8.2
17
22
I63.9
ICD-10 Finland
Cerebral infarction, unspecified
8.7
8.2
17
22
TFB00
NOMESCO Finland
Cathetrisation of pulmonal artery
23.8
8.2
11
5
ZX120
NOMESCO Finland
Intravenous
5.4
8.0
24
52
J18.9
ICD-10 Finland
Pneumonia, unspecified
3.8
7.9
36
119
TPH07
NOMESCO Finland
Cathetrisation of artery
4.7
7.9
27
68
K78
ICPC
Atrial fibrillation/flutter
8.9
7.9
16
20
7456B
ICD-9 Finland
Bulbus cordis anomalies and anomalies of cardiac septal closure, Endocardial cushion defects[DEFECTUS SEPTI ATRIORUM, OSTII PRIMII]
+∞
7.4
7
*
WX882
NOMESCO Finland
High dependency care
5.8
7.3
20
39
I47.2
ICD-10 Finland
Ventricular tachycardia
21.4
7.2
10
5
XF622
NOMESCO Finland
Measurement of minute volume of heart
31.9
7.2
9
*
WX892
NOMESCO Finland
Monitored bed care
5.2
7.2
22
49
XFE00
NOMESCO Finland
Epicardial ultrasonography
14.8
7.0
11
8
I50.9
ICD-10 Finland
Heart failure, unspecified
5.4
6.9
20
42
504
Kela drug reimbursment
Conditions requiring daily forced enteral nutrition
17.9
6.9
10
6
I36.1
ICD-10 Finland
Nonrheumatic tricuspid (valve) insufficiency
42.3
6.8
8
*
Q25.0
ICD-10 Finland
Patent ductus arteriosus
23.9
6.8
9
*
WX704
NOMESCO Finland
Intubation
4.9
6.6
21
49
Z01.0
ICD-10 Finland
Examination of eyes and vision
3.4
6.6
35
128
WX404
NOMESCO Finland
Intravenous generell anesthesy
3.0
6.6
43
184
XA800
NOMESCO Finland
Neuropsychological investigation
6.1
6.6
17
31
I69.3
ICD-10 Finland
Sequelae of cerebral infarction
7.2
6.6
15
23
C01BD01
ATC
amiodarone; systemic
15.3
6.5
10
7
I50.1
ICD-10 Finland
Left ventricular failure
15.3
6.5
10
7
UDC00
NOMESCO Finland
Ear microscopy
5.0
6.5
20
45
Q21.30
ICD-10 Finland
Tetralogy of Fallot
73.2
6.5
7
*
74663
ICD-8 Finland
Congenital anomalies of heart, Stenosis valvulae pulmonalis
73.2
6.5
7
*
Q21.9
ICD-10 Finland
Congenital malformation of cardiac septum, unspecified
73.2
6.5
7
*
C09AA02
ATC
enalapril; systemic
4.0
6.4
25
72
AN1
HP
Coronary angiography
5.5
6.3
18
37
Q22.1
ICD-10 Finland
Congenital pulmonary valve stenosis
28.1
6.3
8
*
AP3
HP
Catheterization of the right and left side of the heart
+∞
6.3
6
*
74639
ICD-8 Finland
Congenital anomalies of heart, Defectus septi ventriculorum
+∞
6.3
6
*
I27.0
ICD-10 Finland
Primary pulmonary hypertension
+∞
6.3
6
*
74647
ICD-8 Finland
Congenital anomalies of heart, Ostium atrioventriculare commune
+∞
6.3
6
*

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
79
345
3.86
14.51
21.9
6.8
1.7
1.1
inr
2.02
18
113
24
45
6.20
12.79
22.9
21.7
—
—
—
0
0
50
182
3.68
11.66
5.8
3.4
739.4
162.1
ng/l
1.03
45
117
34
96
4.33
11.30
17.2
14.3
0.7
1.3
mmol/l
0.37
28
80
28
70
4.72
10.81
4.2
6.9
21.9
22.6
s
0.33
22
63
16
30
5.88
8.42
5.3
20.5
1.0
1.3
mmol/l
1.08
16
25
21
54
4.38
7.75
3.8
12.3
—
—
—
0
0
34
135
2.99
6.55
3.0
1.9
—
—
—
0
0
37
159
2.79
6.15
5.2
2.4
13.7
13.5
umol/l
0.08
37
147
35
154
2.68
5.52
3.1
2.3
—
—
—
0
0
98
689
2.32
5.24
6.0
3.2
—
—
—
0
0
45
255
2.11
3.91
5.1
5.1
—
—
—
0
0
7
8
9.12
3.81
2.0
3.3
0.7
0.7
nmol/l
—
7
8
10
25
4.22
3.76
1.2
1.2
—
—
—
0
0
28
134
2.35
3.64
3.8
5.7
2.1
1.6
%
0.71
28
127
53
333
1.94
3.40
4.6
3.0
—
—
—
0
0
27
133
2.27
3.28
29.9
12.2
—
—
—
0
0
53
341
1.88
3.13
5.5
3.5
33.8
32.4
ng/l
0.03
37
207
75
539
1.82
3.09
15.6
10.6
1.2
1.2
mmol/l
2.43
69
464
27
137
2.19
3.05
33.2
14.9
25.5
24.9
mmol/l
0.51
27
137
5
5
10.29
3.00
2.8
1.0
—
—
—
0
0
6
9
6.90
2.89
1.7
1.2
—
—
—
0
0
9
23
4.10
2.82
13.2
19.3
—
—
—
0
0
40
242
1.90
2.81
4.3
3.4
1.4
1.4
mg/l
0.01
35
192
20
94
2.31
2.70
3.5
3.9
82.1
66.9
e9/l
2.07
14
69
5
7
7.35
2.57
2.0
17.3
140.4
173.0
mg/l
—
5
7
6
12
5.16
2.42
4.5
2.6
4.1
4.0
mmol/l
—
6
12
5
8
6.42
2.39
1.0
1.4
9.8
9.8
umol/l
—
5
8
81
625
1.68
2.39
8.9
8.1
0.7
0.6
e9/l
1.81
73
542
83
646
1.67
2.35
8.8
8.1
1.7
2.0
e9/l
3.34
77
574
25
405
0.54
2.12
2.3
1.9
—
—
—
0
0
80
628
1.62
2.11
9.0
8.1
0.0
0.0
e9/l
0.24
72
546
128
1147
2.04
1.98
34.7
15.1
139.2
139.6
mmol/l
1.10
128
1115
5
11
4.67
1.95
1.8
1.3
—
—
—
0
0
36
235
1.71
1.93
3.9
3.4
22449.2
3626.3
umol/l
0.39
29
206
128
1150
2.02
1.91
34.7
15.1
4.0
3.9
mmol/l
1.34
128
1117
57
420
1.59
1.91
9.7
9.1
—
—
—
0
0
7
22
3.29
1.90
16.3
19.0
75.7
68.6
%
—
7
22
81
649
1.57
1.88
9.6
9.0
0.2
0.2
e9/l
0.04
75
574
6
17
3.63
1.86
8.3
2.6
1.8
1.2
mmol/l
—
6
17
5
12
4.27
1.84
5.2
2.6
101.4
108.0
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
8
30
2.76
1.75
5.0
3.7
—
—
—
0
0
18
98
1.96
1.71
1.2
1.4
157.9
161.5
u/ml
0.01
18
90
7
25
2.89
1.67
9.4
2.7
—
—
—
0
0
42
296
1.59
1.67
4.4
4.2
7.4
7.4
ph
—
7
54
5
15
3.41
1.53
7.6
2.7
8.0
7.1
mmol/l
—
5
15
21
126
1.78
1.50
1.8
1.6
—
—
—
0
0
33
225
1.61
1.49
3.8
3.0
613.1
553.0
mosm/kgh2o
0.55
28
195
5
16
3.20
1.45
2.8
2.1
—
—
—
0
0
5
16
3.20
1.45
2.8
2.1
—
—
—
0
0
5
16
3.20
1.45
2.8
2.1
—
—
—
0
0
5
16
3.20
1.45
2.8
2.1
—
—
—
0
0
18
105
1.82
1.41
9.3
3.2
8.9
9.5
g/l
0.24
18
97
5
17
3.01
1.37
1.6
4.8
—
528.6
—
0
5
5
17
3.01
1.37
1.2
1.8
—
—
—
0
0
34
239
1.55
1.35
6.0
3.4
—
—
—
0
0
86
729
1.45
1.34
10.9
11.7
4.3
3.9
e9/l
1.05
75
633
10
48
2.16
1.31
1.5
1.2
—
—
—
0
0
17
100
1.79
1.30
26.4
9.2
—
—
—
0
0
5
19
2.69
1.22
10.0
3.5
18.7
14.4
mu/l
—
5
19
0
33
0.00
1.18
0.0
4.3
—
3.3
—
0
23
0
33
0.00
1.18
0.0
4.4
—
557.2
—
0
24
5
22
2.32
1.04
12.8
3.8
—
—
—
0
0
46
363
1.39
1.01
3.5
3.4
9.8
46.9
e6/l
1.40
38
283
8
143
0.53
1.00
1.1
1.2
—
—
—
0
0
42
331
1.38
0.93
3.3
3.1
1.1
0.2
e6/l
1.00
31
253
31
233
1.42
0.89
4.8
4.0
20.7
9.9
mg/mmol
0.23
23
142
13
199
0.62
0.86
1.3
1.6
—
—
—
0
0
39
310
1.35
0.81
4.1
2.7
—
—
—
0
0
5
96
0.50
0.81
4.0
1.5
—
—
—
0
0
15
99
1.58
0.79
26.4
8.7
9.0
9.4
kpa
0.42
15
94
0
27
0.00
0.78
0.0
4.9
—
—
—
0
0
5
25
2.03
0.73
1.6
4.3
57.2
57.9
%
—
5
25
5
25
2.03
0.73
1.6
4.3
3.3
4.2
e9/l
—
5
25
5
91
0.53
0.69
3.6
1.5
—
—
—
0
0
40
327
1.31
0.69
3.2
3.1
—
—
—
0
0
5
27
1.88
0.69
3.6
4.3
8.6
9.1
kpa
—
5
27
5
27
1.88
0.69
3.6
4.3
5.0
4.8
kpa
—
5
27
5
27
1.88
0.69
2.0
2.1
—
—
—
0
0
5
95
0.51
0.69
3.6
1.5
—
—
—
0
0
7
43
1.66
0.68
2.0
2.4
—
—
—
0
0
50
423
1.28
0.67
4.1
4.0
11.0
36.2
e6/l
2.48
40
301
5
28
1.81
0.67
1.2
2.9
12.9
6.3
umol/l
—
5
20
5
29
1.75
0.64
1.2
1.3
—
—
—
0
0
10
63
1.63
0.63
1.5
1.3
—
—
—
0
0
20
262
0.73
0.62
3.2
3.4
—
—
—
0
0
0
20
0.00
0.61
0.0
6.3
—
—
—
0
0
40
334
1.27
0.59
11.9
10.3
—
—
—
0
0
14
193
0.70
0.58
1.6
1.3
1.0
6.4
u/ml
—
6
79
6
39
1.56
0.53
11.0
2.7
—
—
—
0
0
31
254
1.28
0.53
3.0
2.9
7.6
5.2
e6/l
0.37
26
227
25
309
0.77
0.53
3.6
3.7
0.0
0.0
estimate
—
9
116
84
770
1.22
0.52
6.1
4.1
—
—
—
0
0
27
219
1.29
0.50
4.3
3.3
40.0
80.9
mg/l
0.40
22
139
7
49
1.45
0.46
1.3
1.2
—
—
—
0
0
34
287
1.24
0.46
3.2
4.8
—
—
—
0
0
15
113
1.37
0.45
1.5
1.4
—
—
—
0
0
5
31
1.63
0.43
1.4
1.4
—
—
—
0
0
19
237
0.77
0.43
1.5
1.8
—
—
—
0
0
0
15
0.00
0.41
0.0
2.5
—
59.2
—
0
15
0
15
0.00
0.41
0.0
1.2
—
115.4
—
0
15
41
358
1.20
0.40
2.5
1.7
101.6
96.7
pmol/l
0.32
30
173
0
18
0.00
0.40
0.0
1.4
—
—
—
0
0
0
18
0.00
0.40
0.0
1.2
—
—
—
0
0
0
18
0.00
0.40
0.0
2.1
—
—
—
0
0
0
19
0.00
0.39
0.0
1.6
—
—
—
0
0
35
402
0.83
0.39
2.7
2.5
—
—
—
0
0
9
69
1.32
0.38
6.2
6.1
—
—
—
0
0
133
1359
0.72
0.37
39.3
19.1
133.2
135.8
g/l
1.06
133
1343
133
1359
0.72
0.37
38.7
19.0
6.6
6.7
e9/l
0.18
133
1319
42
371
1.19
0.37
1.4
1.6
—
—
—
0
0
63
577
1.16
0.35
14.8
11.3
0.0
0.0
e9/l
0.50
50
459
133
1358
0.73
0.35
38.6
19.0
4.5
4.6
e12/l
0.54
133
1320
133
1358
0.73
0.35
38.5
18.9
29.9
29.8
pg
0.18
133
1343
6
45
1.35
0.34
5.3
5.2
—
—
—
0
0
133
1357
0.74
0.33
38.6
18.9
90.0
89.1
fl
1.25
133
1342
31
348
0.86
0.26
1.9
1.9
—
—
—
0
0
9
73
1.25
0.26
1.1
1.2
—
—
—
0
0
6
81
0.73
0.25
1.3
1.0
—
—
—
0
0
0
11
0.00
0.21
0.0
1.3
—
—
—
0
0
0
12
0.00
0.21
0.0
1.0
—
167.4
—
0
12
0
12
0.00
0.21
0.0
1.0
—
—
—
0
0
0
12
0.00
0.21
0.0
1.4
—
—
—
0
0
0
12
0.00
0.21
0.0
1.2
—
—
—
0
0
0
13
0.00
0.21
0.0
4.8
—
3.1
—
0
13
0
13
0.00
0.21
0.0
5.5
—
—
—
0
0
0
13
0.00
0.21
0.0
1.6
—
—
—
0
0
6
48
1.26
0.20
2.8
1.9
181.0
142.9
u/ml
—
6
27
39
358
1.12
0.20
1.6
1.6
2.2
2.1
g/l
0.21
23
193
0
14
0.00
0.20
0.0
17.5
—
1452.6
—
0
14
0
14
0.00
0.20
0.0
11.1
—
792.2
—
0
14
6
49
1.23
0.20
3.0
1.8
—
—
—
0
0
104
1007
1.12
0.20
4.5
3.7
5.9
5.7
mmol/l
0.46
98
927
6
52
1.16
0.19
2.2
1.3
—
—
—
0
0
124
1215
1.15
0.18
28.0
12.9
20.1
21.0
mg/l
0.13
112
921
53
561
0.91
0.17
4.1
3.5
0.0
0.0
estimate
—
9
110
127
1247
1.16
0.17
27.0
10.6
—
—
—
0
0
10
84
1.20
0.14
3.2
2.2
10.3
13.1
nmol/l
—
10
79
8
97
0.81
0.14
4.0
3.6
—
—
—
0
0
8
99
0.80
0.14
1.3
1.4
—
—
—
0
0
116
1181
0.91
0.13
37.6
14.7
38.6
40.3
%
1.28
93
969
53
555
0.93
0.12
6.3
4.7
0.0
0.0
estimate
—
10
116
54
562
0.94
0.10
4.0
3.4
0.0
0.0
estimate
—
10
114
114
1122
1.08
0.09
36.1
17.0
331.6
334.1
g/l
1.88
114
1117
36
378
0.94
0.09
1.7
1.6
0.8
1.9
u/ml
—
8
83
6
56
1.07
0.09
2.3
2.0
—
—
—
0
0
21
195
1.09
0.08
1.9
1.5
—
—
—
0
0
5
64
0.77
0.08
1.0
1.8
195.2
322.4
mu/l
—
5
58
46
443
1.06
0.07
4.1
3.2
—
—
—
0
0
8
77
1.04
0.07
4.9
4.2
1.2
1.2
mmol/l
—
8
66
96
944
1.05
0.07
6.3
4.8
39.2
38.5
mmol/mol
0.33
91
888
12
131
0.91
0.06
1.4
1.2
—
—
—
0
0
32
323
0.99
0.00
4.5
3.0
—
—
—
0
0
26
265
0.98
0.00
1.7
1.7
—
—
—
0
0
14
135
1.04
0.00
1.5
1.3
—
—
—
0
0
15
145
1.04
0.00
1.3
1.3
—
—
—
0
0
12
115
1.05
0.00
1.5
1.4
—
—
—
0
0
0
6
0.00
0.00
0.0
1.2
—
2.0
—
0
6
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
0.00
0.0
1.2
—
—
—
0
0
0
6
0.00
0.00
0.0
1.2
—
—
—
0
0
8
84
0.95
0.00
2.4
1.8
—
—
—
0
0
0
6
0.00
0.00
0.0
1.5
—
—
—
0
0
0
6
0.00
0.00
0.0
1.0
—
—
—
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
17.7
—
8.7
—
0
6
0
6
0.00
0.00
0.0
2.2
—
—
—
0
0
0
5
0.00
0.00
0.0
1.4
—
—
—
0
0
0
5
0.00
0.00
0.0
3.0
—
—
—
0
0
0
8
0.00
0.00
0.0
1.5
—
—
—
0
0
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
0.00
0.0
35.6
—
0.4
—
0
5
0
5
0.00
0.00
0.0
1.4
—
—
—
0
0
8
80
1.00
0.00
3.0
2.5
13.1
19.7
iu/l
—
8
59
0
7
0.00
0.00
0.0
1.0
—
—
—
0
0
7
77
0.90
0.00
2.9
3.3
—
—
—
0
0
12
120
1.00
0.00
1.4
1.9
—
—
—
0
0
7
75
0.93
0.00
2.7
4.6
2.2
10.8
ug/l
—
7
53
0
5
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
1.1
—
—
—
0
0
8
89
0.89
0.00
3.0
1.5
—
—
—
0
0
0
8
0.00
0.00
0.0
1.3
—
—
—
0
0
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
0
8
0.00
0.00
0.0
1.5
—
—
—
0
0
7
77
0.90
0.00
1.0
1.3
—
—
—
0
0
0
8
0.00
0.00
0.0
6.8
—
—
—
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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