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Turner's syndrome

Q17_TURNE_SYNDR

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 Q96
  • Cause of death: ICD-10 Q96

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

90

4. Check minimum number of events

None

90

5. Include endpoints

None

90

6. Filter based on genotype QC (FinnGen only)

90

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 Turner

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 1030 965 61
Only index persons 909 853 56
Unadjusted period prevalence (%)
Whole population 0.03 0.03 0.00
Only index persons 0.03 0.03 0.00
Median age at first event (years)
Whole population 15.85 16.16 9.17
Only index persons 17.47 18.00 9.51

-FinnGen-

Key figures

All Female Male
Number of individuals 90 84 6
Unadjusted period prevalence (%) 0.03 0.03 0.00
Median age at first event (years) 20.70 21.52 9.25

-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

Not a core endpoint, no data to show.

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.

No data available

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
22
38
7.34
12.98
2.7
1.7
6.6
11.9
u/l
0.77
16
30
12
7
19.50
8.33
1.0
1.0
—
—
—
0
0
51
270
3.05
6.32
2.0
1.4
0.6
2.0
u/ml
1.27
14
64
46
243
2.83
5.53
2.0
1.3
2.0
2.0
g/l
0.07
20
134
27
111
3.05
5.07
1.4
1.2
—
—
—
0
0
5
5
10.48
3.01
7.0
4.2
2.9
2.2
ug/l
—
5
5
29
160
2.20
2.84
1.5
1.5
1.4
1.3
mmol/l
0.20
24
144
0
68
0.00
2.74
0.0
1.1
—
—
—
0
0
8
21
4.07
2.53
8.8
19.9
94.4
96.1
%
—
8
21
8
22
3.89
2.43
8.8
19.1
1.2
1.1
%
—
8
22
8
22
3.89
2.43
8.8
19.1
0.6
0.7
%
—
8
22
16
79
2.25
2.00
2.6
2.0
2.4
2.4
mmol/l
0.20
16
70
27
167
1.88
1.87
4.3
5.3
0.9
1.1
inr
—
8
60
5
13
4.00
1.74
1.2
1.0
—
—
—
0
0
17
93
2.02
1.65
1.7
2.5
1845.2
5212.0
u/l
—
6
32
14
72
2.12
1.59
3.0
2.7
—
—
—
0
0
17
95
1.97
1.56
2.3
3.2
1463.3
577.9
ng/l
—
10
41
16
88
2.00
1.53
1.4
1.3
180.0
137.0
iu/ml
—
5
44
6
22
2.85
1.46
10.8
17.9
—
—
—
0
0
17
100
1.86
1.35
4.1
3.5
7.9
20.3
mg/mmol
0.60
12
65
5
19
2.72
1.23
2.2
4.6
—
—
—
0
0
48
382
1.55
1.22
3.0
2.6
—
—
—
0
0
18
113
1.74
1.17
3.2
3.9
—
—
—
0
0
5
20
2.58
1.16
1.6
1.7
—
—
—
0
0
73
646
1.69
1.11
3.4
3.0
5.6
5.5
mmol/l
0.31
68
599
8
43
1.94
0.90
1.0
1.6
—
—
—
0
0
14
90
1.66
0.84
1.2
1.4
—
—
—
0
0
0
26
0.00
0.80
0.0
1.9
—
—
—
0
0
11
67
1.73
0.79
6.3
9.4
23.9
24.8
mmol/l
0.33
11
67
5
25
2.06
0.74
1.0
1.1
—
—
—
0
0
11
69
1.68
0.72
1.3
1.3
—
—
—
0
0
25
317
0.71
0.71
2.1
2.9
—
—
—
0
0
43
361
1.37
0.71
6.7
8.1
0.0
0.0
e9/l
0.49
37
299
48
543
0.75
0.62
3.1
3.9
—
—
—
0
0
12
82
1.53
0.58
2.8
2.7
30.7
29.4
s
0.56
12
82
9
59
1.58
0.57
9.8
12.1
—
—
—
0
0
6
39
1.58
0.54
1.7
6.7
—
—
—
0
0
6
40
1.53
0.52
11.5
3.5
1.2
1.2
mmol/l
—
6
33
41
465
0.78
0.50
5.7
8.2
3.9
3.8
e9/l
0.11
34
406
13
174
0.70
0.49
1.5
1.7
—
—
—
0
0
20
157
1.35
0.49
4.0
2.8
7.4
8.1
mmol/l
0.21
15
139
5
32
1.59
0.43
42.6
10.3
—
1.0
—
0
8
8
59
1.39
0.42
1.3
1.4
—
—
—
0
0
11
80
1.43
0.40
1.2
1.2
—
—
—
0
0
79
756
1.37
0.37
12.9
11.3
38.0
39.5
%
1.00
67
654
15
187
0.76
0.36
2.1
3.1
—
—
—
0
0
25
212
1.25
0.35
1.8
1.5
106.2
94.2
pmol/l
0.57
12
97
16
196
0.78
0.34
5.8
7.1
—
—
—
0
0
30
261
1.22
0.34
4.4
5.7
—
—
—
0
0
8
106
0.73
0.31
1.0
1.2
—
—
—
0
0
12
150
0.77
0.30
1.9
2.3
6.8
7.2
e6/l
0.06
12
137
26
227
1.20
0.28
1.9
2.2
—
—
—
0
0
5
71
0.69
0.27
1.2
1.4
—
—
—
0
0
5
71
0.69
0.27
1.4
1.5
—
—
—
0
0
5
71
0.69
0.27
1.2
1.4
—
—
—
0
0
5
71
0.69
0.27
4.8
1.7
—
—
—
0
0
5
72
0.68
0.27
1.0
2.1
—
—
—
0
0
5
73
0.67
0.27
1.2
1.5
—
—
—
0
0
5
37
1.37
0.24
3.0
2.4
24.6
20.9
s
—
5
31
22
192
1.19
0.23
1.9
3.9
—
—
—
0
0
30
330
0.86
0.22
2.2
2.1
—
—
—
0
0
0
11
0.00
0.21
0.0
1.5
—
—
—
0
0
0
11
0.00
0.21
0.0
1.3
—
—
—
0
0
0
10
0.00
0.21
0.0
1.1
—
—
—
0
0
0
10
0.00
0.21
0.0
1.0
—
—
—
0
0
9
110
0.80
0.21
1.4
2.1
—
—
—
0
0
0
12
0.00
0.21
0.0
1.7
—
—
—
0
0
0
12
0.00
0.21
0.0
2.7
—
—
—
0
0
0
12
0.00
0.21
0.0
1.1
—
120.5
—
0
12
0
13
0.00
0.21
0.0
1.7
—
253.5
—
0
13
0
14
0.00
0.20
0.0
1.0
—
—
—
0
0
0
14
0.00
0.20
0.0
1.0
—
—
—
0
0
18
157
1.18
0.19
1.8
2.7
20.1
18.1
ng/l
0.10
11
61
28
256
1.14
0.17
2.7
2.1
—
—
—
0
0
8
72
1.12
0.16
3.3
6.1
—
—
—
0
0
6
76
0.77
0.16
1.2
1.5
—
—
—
0
0
6
75
0.79
0.16
1.2
1.5
—
—
—
0
0
6
75
0.79
0.16
1.2
1.5
—
—
—
0
0
6
75
0.79
0.16
1.2
1.5
—
—
—
0
0
22
243
0.87
0.16
1.6
1.8
—
—
—
0
0
29
269
1.12
0.13
1.7
1.8
—
—
—
0
0
30
279
1.11
0.13
1.9
1.9
—
—
—
0
0
14
123
1.16
0.13
3.1
2.9
—
—
—
0
0
21
191
1.13
0.13
2.0
2.8
0.1
0.2
e6/l
1.17
12
150
37
388
0.92
0.10
2.6
3.2
0.0
0.0
estimate
—
9
80
25
267
0.91
0.10
2.6
3.4
77.2
64.5
e6/l
0.09
16
179
5
46
1.09
0.10
3.8
11.0
—
—
—
0
0
5
48
1.04
0.09
1.4
1.2
—
—
—
0
0
12
134
0.88
0.09
1.9
2.4
478.1
549.4
mosm/kgh2o
0.70
12
119
37
387
0.93
0.09
2.7
3.3
0.0
0.0
estimate
—
10
80
17
156
1.11
0.09
1.4
1.5
—
—
—
0
0
28
296
0.92
0.09
1.8
1.8
—
—
—
0
0
5
61
0.81
0.08
6.2
9.5
5.6
5.0
kpa
—
5
56
5
60
0.82
0.08
1.8
1.8
—
—
—
0
0
6
71
0.83
0.08
1.2
1.5
—
—
—
0
0
21
224
0.92
0.07
3.1
2.7
—
—
—
0
0
37
385
0.93
0.07
3.6
4.6
0.0
0.0
estimate
—
10
81
21
197
1.09
0.07
2.1
2.7
—
—
—
0
0
23
217
1.08
0.07
1.6
2.1
—
—
—
0
0
40
413
0.94
0.06
4.3
5.8
0.1
0.2
e9/l
1.91
34
369
14
150
0.92
0.04
1.4
2.3
380.0
634.3
u/l
0.24
14
145
39
400
0.96
0.03
3.9
5.7
0.0
0.0
e9/l
0.24
33
358
39
398
0.96
0.02
3.9
5.7
0.5
0.5
e9/l
0.10
33
356
77
768
1.02
0.00
9.5
10.3
25.4
19.7
mg/l
0.72
61
551
22
217
1.02
0.00
2.0
2.7
12.1
53.3
e6/l
1.44
15
173
52
515
1.02
0.00
2.5
3.9
—
50.0
—
0
7
13
125
1.05
0.00
1.5
1.5
—
680.0
—
0
23
21
209
1.01
0.00
2.9
3.2
0.0
0.0
estimate
—
9
81
0
6
0.00
0.00
0.0
1.3
—
—
—
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
5.2
—
—
—
0
0
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
0.00
0.0
3.8
—
—
—
0
0
0
8
0.00
0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
0.00
0.0
8.8
—
0.6
—
0
6
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
0.00
0.0
3.3
—
6.4
—
0
6
0
6
0.00
0.00
0.0
1.3
—
5.5
—
0
6
0
6
0.00
0.00
0.0
3.3
—
1.0
—
0
6
0
6
0.00
0.00
0.0
1.2
—
—
—
0
0
0
5
0.00
0.00
0.0
1.4
—
—
—
0
0
0
9
0.00
0.00
0.0
1.1
—
—
—
0
0
6
65
0.92
0.00
1.2
1.5
—
—
—
0
0
0
7
0.00
0.00
0.0
2.1
—
—
—
0
0
6
68
0.87
0.00
1.3
1.5
—
—
—
0
0
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
5
0.00
0.00
0.0
1.2
—
—
—
0
0
0
7
0.00
0.00
0.0
68.9
—
6.3
—
0
7
0
5
0.00
0.00
0.0
1.6
—
—
—
0
0
0
5
0.00
0.00
0.0
1.0
—
38.5
—
0
5
0
5
0.00
0.00
0.0
1.8
—
—
—
0
0
7
76
0.91
0.00
1.4
1.3
—
—
—
0
0

Mortality – FinRegistry

Association

Association between endpoint Q17_TURNE_SYNDR and mortality.

Females

Parameter HR [95% CI] p-value
Q17_TURNE_SYNDR 4.191 [3.01, 5.84] < 0.001
Birth year 0.994 [0.99, 1.0] 0.156

During the follow-up period (1.1.1998 — 31.12.2019), 51 out of 862 females with Q17_TURNE_SYNDR died.

Males

No data

Mortality risk

Mortality risk for people of age

years, who have Q17_TURNE_SYNDR.

N-year risk Females Males
1 0.364% No data
5 2.293% No data
10 5.834% No data
15 10.872% No data
20 18.565% No data

Relationships between endpoints

Index endpoint: Q17_TURNE_SYNDR – Turner'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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