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Down's syndrome

EFO Endpoint Browser PheWeb

Q17_DOWNS_SYNDR

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 — Q90
  • Cause of death: ICD-10 — Q90

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

146

4. Check minimum number of events

None

146

5. Include endpoints

None

146

6. Filter based on genotype QC (FinnGen only)

126

Control definitions (FinnGen only)

Control exclude
Q17_CHROMOSOMAL_ABNORMALITI_NOT_ELSEW_CLASSIFIED

Extra metadata

Level in the ICD hierarchy
3
First used in FinnGen datafreeze
DF4
Parent code in ICD-10
Q9
Name in latin
Syndroma Down

Similar endpoints

↥

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 4904 2480 2418
Only index persons 3840 1967 1873
Unadjusted period prevalence (%)
Whole population 0.07 0.07 0.07
Only index persons 0.07 0.07 0.07
Median age at first event (years)
Whole population 24.93 28.56 21.16
Only index persons 28.20 30.99 25.27

-FinnGen-

Key figures

All Female Male
Number of individuals 126 73 53
Unadjusted period prevalence (%) 0.03 0.03 0.02
Median age at first event (years) 28.53 33.38 21.85

-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
135
Matched controls
1350
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
Q90.9
ICD-10 Finland
Down syndrome, unspecified
+∞
123.7
99
*
Q90.0
ICD-10 Finland
Trisomy 21, meiotic nondisjunction
+∞
88.5
75
*
Q90
ICD-10 Finland
Down syndrome
+∞
37.2
34
*
P85
ICPC
Mental retardation
144.2
32.3
33
*
7580A
ICD-9 Finland
Chromosomal anomalies, Down's syndrome
+∞
28.1
26
*
H03AA01
ATC
levothyroxine sodium; systemic
6.8
26.6
60
142
DCA20
NOMESCO Finland
Insertion of ventilating tube through tympanic membrane
7.3
18.4
31
53
E03.9
ICD-10 Finland
Hypothyroidism, unspecified
6.3
17.3
34
68
75930
ICD-8 Finland
Congenital syndromes affecting multiple systems, Down's disease
+∞
15.9
15
*
H65.3
ICD-10 Finland
Chronic mucoid otitis media
6.9
15.6
27
47
WYA30
NOMESCO Finland
Treatment of a patient needing special arrangements
5.2
14.3
35
85
F79.0
ICD-10 Finland
Unspecified mental retardation, with the statement of no, or minimal, impairment of behaviour
24.3
13.8
19
9
UDC00
NOMESCO Finland
Ear microscopy
6.6
13.4
24
43
H61.2
ICD-10 Finland
Impacted cerumen
6.7
13.2
23
40
D01BA02
ATC
terbinafine; oral
4.2
12.9
44
138
Q90.1
ICD-10 Finland
Trisomy 21, mosaicism (mitotic nondisjunction)
+∞
12.7
12
*
111
Kela drug reimbursment
Epilepsy and comparable convulsive disorders
6.4
12.6
23
42
Q21.10
ICD-10 Finland
Persistent ostium secundum
22.4
11.4
16
8
O35.1
ICD-10 Finland
Maternal care for (suspected) chromosomal abnormality in fetus
17.5
11.2
17
11
J18.9
ICD-10 Finland
Pneumonia, unspecified
3.6
10.9
48
178
Q21.21
ICD-10 Finland
Atrioventricular duct
65.3
10.8
12
*
N06DX01
ATC
memantine; oral
25.8
10.5
14
6
N03AG01
ATC
valproic acid; systemic, rectal
5.0
10.1
24
56
J15.9
ICD-10 Finland
Bacterial pneumonia, unspecified
5.6
9.7
20
41
E03.80
ICD-10 Finland
Hypothyroidism caused by autoimmune thyroiditis
13.8
9.6
16
13
SPAT1033
SPAT
Irrigation or wax removal of outer auditory canal
4.8
9.6
24
58
201
Kela drug reimbursment
Chronic cardiac insufficiency
10.7
9.6
18
19
N06DA02
ATC
donepezil; oral
23.8
9.5
13
6
Q90.2
ICD-10 Finland
Trisomy 21, translocation
+∞
9.5
9
*
GD1QA
NOMESCO Finland
Supine thorax X-ray examination
5.1
9.2
21
47
R56.8
ICD-10 Finland
Other and unspecified convulsions
4.9
9.1
22
52
Z01.1
ICD-10 Finland
Examination of ears and hearing
3.7
8.7
33
109
Q21.08
ICD-10 Finland
Other specifed ventricular septal defect
29.7
8.6
11
*
K03.66
ICD-10 Finland
Tooth plaque
3.9
8.5
29
89
F71
ICD-10 Finland
Moderate mental retardation
+∞
8.4
8
*
R55
ICD-10 Finland
Syncope and collapse
4.5
8.0
21
53
G30.0
ICD-10 Finland
Alzheimer disease with early onset
47.8
7.8
9
*
MAA00
NOMESCO Finland
Amniocentesis
9.8
7.8
15
17
H72.0
ICD-10 Finland
Central perforation of tympanic membrane
12.9
7.8
13
11
Q25.0
ICD-10 Finland
Patent ductus arteriosus
19.8
7.7
11
6
T86
ICPC
Hypothyroidism/myxoedema
8.7
7.3
15
19
Z3229
NOMESCO Finland
Other healthcare associate professional
4.3
7.3
20
52
Q21.09
ICD-10 Finland
Ventricular septal defect NOS
31.9
7.2
9
*
DFF20
NOMESCO Finland
Audiometry for children
13.0
7.2
12
10
N05AX08
ATC
risperidone; systemic
4.0
6.9
21
59
N06DA03
ATC
rivastigmine; oral, transdermal
42.2
6.8
8
*
XF400
NOMESCO Finland
ECG with 12 standard connections
3.3
6.8
29
103
B35.3
ICD-10 Finland
Tinea pedis
6.8
6.7
16
26
E10.9
ICD-10 Finland
Type 1 diabetes mellitus, Without complications
4.3
6.5
18
47
F71.0
ICD-10 Finland
Moderate mental retardation, with the statement of no, or minimal, impairment of behaviour
73.2
6.5
7
*
R5110
NOMESCO Finland
Evaluation of the need for aids, the testing, fitting and choice of the aid, instruction in use and delivery of it
3.7
6.5
22
67
B35.1
ICD-10 Finland
Tinea unguium
4.2
6.3
18
48
113
Kela drug reimbursment
Anxiety disorders associated with mental retardation
+∞
6.3
6
*
H74.1
ICD-10 Finland
Adhesive middle ear disease
+∞
6.3
6
*
7456C
ICD-9 Finland
Bulbus cordis anomalies and anomalies of cardiac septal closure, Endocardial cushion defects[ASD CANALIS ATRIOVENTRICULARIS COMMUNIS]
+∞
6.3
6
*
UJD10
NOMESCO Finland
Esophagoscopy, gastroscopy and duodenoscopy
2.8
6.3
37
158
3812A
ICD-9 Finland
Nonsuppurative otitis media and Eustachian tube disorders, Chronic mucoid otitis media
9.3
6.2
12
14
2500B
ICD-9 Finland
Diabetes mellitus without mention of complication[DIABETES MELLITUS SINE COMPLICATIONE ,TYYPPI I]
9.3
6.2
12
14
Z31.5
ICD-10 Finland
Genetic counselling
3.6
6.2
22
69
4122
FHL
Tympanostomy (tympanic tube)
10.8
6.2
11
11
G40.9
ICD-10 Finland
Epilepsy, unspecified
7.0
6.0
14
22

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
28
114
2.84
5.12
1.4
1.3
301.80
148.23
u/ml
0.62
16
50
52
334
1.91
3.14
18.2
9.7
1.24
1.12
inr
0.80
42
271
20
88
2.49
3.12
3.3
3.6
4.86
4.85
pmol/l
0.00
20
77
31
171
2.06
2.86
3.8
3.9
259.69
581.21
ng/l
0.51
26
104
109
913
2.01
2.62
7.5
4.2
14.66
14.47
pmol/l
0.38
100
861
41
258
1.85
2.57
3.6
4.6
—
—
—
0
0
28
158
1.97
2.41
2.4
1.7
—
—
—
0
0
29
166
1.95
2.40
1.7
1.3
—
—
—
0
0
42
273
1.78
2.35
2.5
3.7
7.39
7.39
ph
0.12
30
181
16
73
2.35
2.32
4.1
8.3
0.00
0.08
%
—
5
24
0
61
0.00
2.30
0.0
1.6
—
—
—
0
0
80
962
0.59
2.30
3.2
3.5
1.12
1.25
mmol/l
1.00
72
910
6
13
4.77
2.29
5.0
7.1
—
—
—
0
0
17
82
2.23
2.18
4.0
7.5
1.00
0.61
%
—
6
33
30
461
0.55
2.18
2.1
2.4
—
—
—
0
0
26
149
1.92
2.14
1.4
1.6
—
—
—
0
0
16
77
2.22
2.06
3.6
7.6
0.90
0.76
%
—
5
29
25
400
0.54
2.06
1.5
1.9
—
—
—
0
0
5
11
4.67
1.96
1.2
1.1
—
—
—
0
0
6
153
0.36
1.91
1.3
1.3
—
—
—
0
0
54
395
1.61
1.90
2.2
1.6
11.92
2.36
u/ml
0.65
12
88
15
73
2.19
1.89
3.9
8.4
0.17
0.13
%
—
6
23
24
380
0.55
1.88
1.8
1.6
—
—
—
0
0
8
29
2.87
1.82
1.1
1.1
—
—
—
0
0
50
364
1.59
1.77
2.1
1.9
95.53
94.70
pmol/l
0.04
17
195
33
216
1.70
1.77
4.0
3.4
91.44
42.89
mg/l
0.40
21
152
23
137
1.82
1.69
6.7
11.2
—
—
—
0
0
125
1307
0.41
1.63
24.7
21.7
136.76
135.61
g/l
0.42
125
1301
125
1306
0.42
1.59
24.9
23.0
40.67
40.52
%
0.18
125
1297
90
1022
0.64
1.56
3.9
4.1
1.46
1.45
mmol/l
0.13
81
976
32
215
1.64
1.55
4.5
4.0
15.58
7.11
mg/mmol
0.32
21
143
9
38
2.46
1.49
4.1
7.9
26.06
23.85
mmol/l
—
9
38
11
206
0.49
1.45
2.5
1.6
—
—
—
0
0
6
23
2.68
1.38
3.5
4.1
93.53
91.24
%
—
6
23
9
42
2.22
1.36
14.9
17.2
—
—
—
0
0
24
344
0.63
1.21
2.5
2.1
—
—
—
0
0
8
38
2.17
1.20
2.0
2.3
—
—
—
0
0
0
33
0.00
1.18
0.0
1.2
—
—
—
0
0
59
478
1.42
1.16
4.7
9.8
—
—
—
0
0
8
40
2.06
1.14
1.5
4.8
1.22
1.23
mmol/l
—
8
34
93
1028
0.69
1.11
3.9
4.2
4.63
4.70
mmol/l
0.28
85
987
93
1027
0.70
1.09
4.7
4.4
2.87
2.83
mmol/l
0.14
85
979
114
1052
1.54
1.00
8.8
4.9
2.58
1.84
mu/l
3.98
108
995
7
37
1.94
0.95
2.3
1.9
18.71
36.71
ng/l
—
7
37
7
127
0.53
0.94
2.3
1.6
—
—
—
0
0
6
29
2.12
0.90
1.7
4.0
27.50
39.45
umol/l
—
6
29
48
394
1.34
0.83
4.0
7.0
—
—
—
0
0
102
1094
0.72
0.81
18.8
17.7
13.81
13.33
%
3.85
102
1087
0
24
0.00
0.80
0.0
1.0
—
—
—
0
0
0
24
0.00
0.80
0.0
14.4
—
1491.13
—
0
24
8
132
0.58
0.78
2.9
2.6
10.32
9.28
g/l
—
8
127
16
108
1.55
0.78
14.4
20.7
7.40
7.42
ph
—
9
53
78
691
1.31
0.77
5.3
8.6
0.05
0.04
e9/l
3.43
67
580
78
693
1.30
0.74
5.4
8.6
0.54
0.56
e9/l
0.40
65
583
9
58
1.59
0.71
1.1
1.2
—
—
—
0
0
23
172
1.41
0.69
6.5
13.3
7.37
7.37
ph
0.15
15
100
22
288
0.72
0.68
2.1
1.8
—
—
—
0
0
79
708
1.28
0.68
5.3
8.7
1.92
2.16
e9/l
1.59
69
616
24
182
1.39
0.67
1.2
1.5
—
476.57
—
0
35
21
156
1.41
0.66
4.8
13.8
4.70
5.18
kpa
0.65
21
156
72
641
1.26
0.64
6.0
9.2
0.99
0.63
%
5.06
67
611
5
29
1.75
0.64
7.6
23.2
1.48
1.18
mmol/l
—
5
24
34
275
1.32
0.64
6.1
3.5
1.02
1.02
kg/l
0.28
23
172
8
51
1.60
0.61
1.0
1.2
—
—
—
0
0
74
665
1.25
0.60
5.9
9.0
31.81
32.62
%
0.24
69
645
8
121
0.64
0.58
1.3
1.2
—
—
—
0
0
6
37
1.65
0.56
1.5
2.0
—
—
—
0
0
6
40
1.52
0.52
9.5
7.4
36.97
36.99
°c
—
6
40
78
712
1.23
0.52
5.6
9.3
0.12
0.19
e9/l
6.74
69
609
12
86
1.43
0.46
1.5
2.3
—
0.00
estimate
—
0
17
49
431
1.21
0.46
5.2
3.2
0.00
0.01
estimate
—
7
87
5
32
1.58
0.42
2.8
2.1
—
—
—
0
0
5
32
1.58
0.42
2.8
2.1
—
—
—
0
0
5
32
1.58
0.42
2.8
2.1
—
—
—
0
0
5
32
1.58
0.42
2.8
2.1
—
—
—
0
0
81
752
1.19
0.41
5.9
13.2
3.58
3.78
e9/l
0.34
68
638
20
160
1.29
0.41
1.7
2.3
—
—
—
0
0
10
71
1.44
0.40
17.5
20.4
95.82
93.01
%
—
10
71
19
152
1.29
0.39
3.0
2.6
2.38
2.49
g/l
0.29
19
140
0
19
0.00
0.39
0.0
1.6
—
—
—
0
0
0
19
0.00
0.39
0.0
1.3
—
712.37
—
0
19
5
36
1.40
0.38
1.2
3.6
—
—
—
0
0
9
68
1.35
0.38
7.0
21.4
0.74
0.58
%
—
9
68
114
1177
0.80
0.35
17.3
13.5
25.80
21.58
mg/l
0.82
101
921
43
384
1.18
0.33
2.1
1.6
2.08
2.00
g/l
0.10
20
225
20
165
1.25
0.33
3.4
2.7
15.42
13.68
umol/l
0.50
20
157
18
148
1.25
0.31
2.8
13.1
24.14
23.45
mmol/l
0.79
18
148
17
139
1.26
0.31
11.9
18.5
102.82
104.68
mmol/l
0.90
17
139
65
604
1.15
0.30
4.7
3.7
0.00
0.00
estimate
—
7
96
33
292
1.17
0.28
4.7
4.6
—
—
—
0
0
35
312
1.16
0.28
3.4
2.7
0.00
0.01
estimate
—
7
80
18
213
0.82
0.27
2.5
1.9
—
—
—
0
0
64
597
1.14
0.27
4.7
3.6
0.00
0.00
estimate
—
8
104
84
798
1.14
0.27
5.3
7.5
88.47
91.03
u/l
0.15
79
754
5
72
0.68
0.27
1.0
1.0
16.88
8.71
mu/l
—
5
67
5
73
0.67
0.27
2.8
1.4
219.80
291.39
mu/l
—
5
68
39
352
1.15
0.26
3.1
3.7
36.79
29.26
e6/l
0.14
33
255
5
75
0.65
0.26
1.0
1.4
—
—
—
0
0
29
258
1.16
0.24
3.5
2.6
—
—
—
0
0
93
965
0.88
0.23
3.9
3.8
6.01
5.68
mmol/l
0.69
86
912
0
11
0.00
0.21
0.0
2.0
—
6.65
—
0
11
0
11
0.00
0.21
0.0
1.1
—
207.62
—
0
11
0
10
0.00
0.21
0.0
42.2
—
161.48
—
0
10
0
10
0.00
0.21
0.0
1.2
—
—
—
0
0
0
12
0.00
0.21
0.0
1.0
—
—
—
0
0
0
12
0.00
0.21
0.0
1.2
—
—
—
0
0
0
12
0.00
0.21
0.0
1.8
—
1.66
—
0
12
0
13
0.00
0.21
0.0
1.4
—
—
—
0
0
0
13
0.00
0.21
0.0
12.2
—
0.63
—
0
13
0
13
0.00
0.21
0.0
1.3
—
—
—
0
0
0
14
0.00
0.20
0.0
1.4
—
—
—
0
0
26
289
0.88
0.20
1.3
1.9
—
—
—
0
0
11
132
0.82
0.19
1.7
1.9
—
—
—
0
0
7
62
1.14
0.17
1.4
1.2
—
—
—
0
0
7
62
1.14
0.17
4.9
4.7
7.38
7.40
ph
—
7
47
63
600
1.09
0.16
4.7
3.7
0.00
0.00
estimate
—
7
100
10
119
0.83
0.16
1.4
1.4
—
—
—
0
0
63
601
1.09
0.16
6.5
11.7
0.22
0.00
e9/l
0.50
46
459
45
478
0.91
0.16
3.1
3.3
—
—
estimate
—
0
0
16
141
1.15
0.14
3.3
2.7
26.24
22.19
%
0.88
16
131
10
117
0.84
0.13
1.4
1.2
—
—
—
0
0
29
311
0.91
0.12
3.2
3.6
0.22
0.18
e6/l
0.14
24
212
23
213
1.10
0.10
1.3
1.3
5.50
7.89
u/ml
—
6
82
5
43
1.17
0.10
1.0
1.2
—
—
—
0
0
5
43
1.17
0.10
1.0
1.2
—
—
—
0
0
5
45
1.12
0.10
1.2
1.3
—
—
—
0
0
5
46
1.09
0.09
1.8
1.7
—
3.96
—
0
12
96
942
1.07
0.08
5.7
4.5
39.21
37.42
mmol/mol
0.72
88
904
5
60
0.83
0.08
6.2
3.5
65.94
66.51
g/l
—
5
60
32
304
1.07
0.08
5.9
3.6
0.00
0.00
estimate
—
7
99
8
76
1.06
0.07
1.5
1.9
6.38
6.15
ph
—
8
44
118
1193
0.91
0.07
14.9
10.4
—
—
—
0
0
7
82
0.85
0.07
2.4
3.0
—
—
—
0
0
51
496
1.05
0.05
4.9
3.4
6.50
6.23
ph
1.08
30
264
30
288
1.05
0.05
3.2
2.7
27.57
15.45
ng/l
0.98
23
147
24
230
1.05
0.04
3.1
3.0
—
—
—
0
0
17
177
0.95
0.01
8.8
20.8
25.91
24.38
mmol/l
1.66
17
177
24
233
1.04
0.01
1.3
1.3
12.14
25.12
iu/ml
—
10
66
12
121
0.99
0.00
2.9
4.1
0.21
0.22
g/l
0.14
12
112
17
169
1.01
0.00
9.5
13.3
—
—
—
0
0
30
299
1.00
0.00
5.3
3.8
—
—
—
0
0
34
336
1.02
0.00
2.9
2.9
—
—
—
0
0
42
416
1.01
0.00
3.2
4.6
14.34
34.46
e6/l
0.96
31
266
0
9
0.00
0.00
0.0
2.0
—
72.44
—
0
9
0
9
0.00
0.00
0.0
2.1
—
0.89
—
0
9
0
9
0.00
0.00
0.0
3.9
—
33.11
—
0
9
0
8
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.5
—
61.67
—
0
6
0
5
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.4
—
—
—
0
0
0
8
0.00
-0.00
0.0
4.5
—
9.00
—
0
8
0
7
0.00
-0.00
0.0
1.4
—
—
—
0
0
0
6
0.00
-0.00
0.0
22.2
—
7.31
—
0
6
0
6
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
8
0.00
-0.00
0.0
2.3
—
29.25
—
0
8
0
5
0.00
-0.00
0.0
1.0
—
202.73
—
0
5
0
8
0.00
-0.00
0.0
1.1
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.3
—
4.63
—
0
8
0
8
0.00
-0.00
0.0
1.3
—
—
—
0
0
6
68
0.88
-0.00
1.0
1.1
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
0.03
—
0
5
0
6
0.00
-0.00
0.0
2.3
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
8
0.00
-0.00
0.0
26.6
—
0.74
—
0
8
0
5
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
1.3
—
—
—
0
0
0
5
0.00
-0.00
0.0
8.8
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0

Mortality – FinRegistry

↥

Association

Association between endpoint Q17_DOWNS_SYNDR and mortality.

Females

Parameter HR [95% CI] p-value
Q17_DOWNS_SYNDR 22.482 [18.61, 27.16] < 0.001
Birth year 0.996 [0.99, 1.0] 0.401

During the follow-up period (1.1.1998 — 31.12.2019), 431 out of 2003 females with Q17_DOWNS_SYNDR died.

Males

Parameter HR [95% CI] p-value
Q17_DOWNS_SYNDR 13.673 [11.73, 15.94] < 0.001
Birth year 0.986 [0.98, 1.0] 0.005

During the follow-up period (1.1.1998 — 31.12.2019), 435 out of 1936 males with Q17_DOWNS_SYNDR died.

Mortality risk

Mortality risk for people of age

years, who have Q17_DOWNS_SYNDR.

N-year risk Females Males
1 2.285% 2.585%
5 13.214% 14.193%
10 29.186% 33.047%
15 48.666% 52.566%
20 69.195% 72.468%

Relationships between endpoints

↥

Index endpoint: Q17_DOWNS_SYNDR – Down's syndrome

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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