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Alport

Q17_ALPORT

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 Q87.80
  • Cause of death: ICD-10 Q87.80

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

48

4. Check minimum number of events

None

48

5. Include endpoints

None

48

6. Filter based on genotype QC (FinnGen only)

48

Control definitions (FinnGen only)

Control exclude
Q17_OTHER_CONGEN_MALFO

Extra metadata

First used in FinnGen datafreeze
DF12

Case counts by codes

FinnGen case counts by registry codes:

generic upset plot

Upset plot

Full data table

Summary Statistics

-FinRegistry-

This endpoint is excluded (different definition than used in FinnGen).

-FinnGen-

Key figures

All Female Male
Number of individuals 48 20 28
Unadjusted period prevalence (%) 0.01 0.01 0.01
Median age at first event (years) 24.94 21.30 27.53

-FinnGen-

Age distribution of first events

-FinnGen-

Year distribution of first events

-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
32
30
30.00
33.31
16.0
7.3
11.9
6.3
mmol/l
3.68
32
30
24
16
29.00
29.20
9.0
12.9
1.9
1.3
mg/l
0.99
24
16
27
31
18.62
24.05
12.4
6.8
—
—
—
0
0
27
39
14.54
20.20
9.7
7.0
—
—
—
0
0
35
89
11.83
15.96
10.8
2.6
0.0
0.2
e6/l
1.18
30
74
34
91
10.38
14.50
10.4
2.8
7.1
9.1
mmol/l
1.81
34
79
34
93
10.11
14.13
9.9
2.5
—
—
—
0
0
33
88
9.80
14.02
21.5
3.1
7.3
7.4
ph
—
5
12
37
128
9.25
11.66
12.5
5.0
35.9
37.8
g/l
1.49
37
123
17
27
9.20
11.12
12.1
10.1
24.0
25.1
mmol/l
0.40
17
27
10
0
+∞
10.81
1.9
0.0
—
—
—
0
0
27
80
6.43
9.57
5.4
3.0
—
—
—
0
0
39
167
8.09
9.35
8.1
2.8
0.0
0.0
estimate
—
8
35
39
168
8.02
9.06
8.1
3.0
0.0
0.0
estimate
—
9
33
39
168
8.02
9.06
12.2
4.0
0.0
0.0
estimate
—
9
35
34
132
6.40
8.71
6.4
2.7
—
—
—
0
0
8
0
+∞
8.58
7.3
0.0
—
—
—
0
0
16
34
6.56
7.83
2.8
4.9
2.1
1.6
%
0.69
16
34
10
14
8.76
6.98
3.6
1.6
—
—
—
0
0
11
19
7.21
6.43
1.5
1.5
—
—
—
0
0
42
242
6.86
6.36
13.6
3.3
—
—
—
0
0
22
81
4.17
5.45
6.0
5.6
103.2
92.4
%
1.00
22
81
9
10
10.74
5.03
8.7
9.6
1.1
2.9
%
—
9
10
8
7
13.36
4.98
1.0
1.9
—
—
—
0
0
12
29
5.18
4.96
7.0
3.1
—
—
—
0
0
28
129
3.81
4.93
10.9
9.0
—
—
—
0
0
34
180
4.05
4.83
15.6
10.0
0.0
0.0
e9/l
0.00
25
147
8
8
11.68
4.71
2.0
3.6
—
—
—
0
0
31
160
3.65
4.46
8.3
2.7
197.2
82.2
ug/l
0.67
31
154
8
10
9.32
4.24
2.8
1.3
—
—
—
0
0
9
15
7.10
4.03
1.1
1.3
—
—
—
0
0
20
83
3.42
3.97
6.4
2.3
2.3
2.3
mmol/l
0.36
20
77
12
35
4.24
3.91
2.9
1.8
—
—
—
0
0
8
13
7.13
3.67
11.6
5.3
90.4
91.6
%
—
8
13
17
70
3.21
3.34
8.8
4.1
—
—
—
0
0
19
84
3.09
3.32
4.4
2.3
—
—
—
0
0
9
22
4.78
3.06
8.0
3.4
9.6
9.9
kpa
—
9
22
5
5
10.94
3.04
1.0
2.4
67.3
31.8
mg/l
—
5
5
5
5
10.94
3.04
1.0
2.4
58.1
27.2
mg/l
—
5
5
21
104
2.81
2.94
2.7
2.5
79.0
54.9
u/l
0.92
21
99
30
180
2.78
2.89
13.1
8.5
0.6
0.7
%
0.18
30
168
9
24
4.36
2.84
2.6
1.6
—
—
—
0
0
33
212
2.78
2.72
3.8
2.7
—
—
—
0
0
6
11
6.05
2.63
1.0
1.4
—
—
—
0
0
18
87
2.71
2.59
8.4
3.0
0.0
0.0
estimate
—
9
33
31
196
2.64
2.59
12.7
8.9
0.0
0.0
e9/l
0.04
24
175
30
187
2.61
2.58
13.2
8.5
3.4
3.3
%
0.09
30
174
31
197
2.62
2.55
12.7
8.8
0.6
0.6
e9/l
0.67
24
175
30
190
2.54
2.45
13.2
8.6
9.1
8.1
%
1.84
30
181
12
48
3.00
2.41
1.8
1.8
—
—
—
0
0
31
201
2.53
2.39
14.2
9.4
0.2
0.2
e9/l
0.25
24
182
31
205
2.45
2.23
12.8
8.6
1.9
2.0
e9/l
0.24
24
186
30
196
2.41
2.21
12.5
8.1
55.9
54.4
%
0.31
30
186
30
197
2.39
2.17
13.2
8.2
29.6
30.5
%
0.15
30
187
20
110
2.40
2.16
3.1
2.5
—
—
—
0
0
7
20
3.91
2.15
1.7
4.0
64.3
67.6
g/l
—
7
20
9
32
3.22
2.13
2.4
4.2
0.3
0.2
g/l
—
9
32
18
97
2.37
2.01
8.8
2.3
—
—
—
0
0
14
69
2.45
1.88
5.8
1.7
—
—
—
0
0
7
24
3.23
1.80
1.6
1.1
—
—
—
0
0
17
95
2.22
1.71
5.2
1.8
—
—
—
0
0
5
14
3.85
1.66
8.4
4.5
—
—
—
0
0
42
349
2.62
1.60
7.0
3.4
4.6
4.7
mmol/l
0.26
42
337
5
15
3.59
1.56
1.4
2.9
—
—
—
0
0
20
124
2.05
1.53
1.4
1.6
—
—
—
0
0
17
100
2.08
1.49
2.2
1.7
110.7
96.3
pmol/l
—
7
53
42
352
2.54
1.45
7.0
3.6
2.7
2.9
mmol/l
0.39
42
340
31
230
1.98
1.39
15.0
12.0
3.8
4.0
e9/l
0.19
24
204
10
48
2.37
1.39
1.6
1.6
—
—
—
0
0
41
340
2.41
1.38
6.1
3.1
1.4
1.3
mmol/l
0.28
41
326
41
349
2.20
1.23
7.0
3.3
1.3
1.4
mmol/l
1.04
41
336
5
20
2.67
1.18
1.6
1.3
—
—
—
0
0
5
20
2.67
1.18
15.0
5.3
—
—
—
0
0
17
109
1.87
1.14
8.5
9.8
—
—
—
0
0
18
118
1.84
1.12
2.1
1.5
—
—
—
0
0
18
121
1.78
1.02
4.9
2.3
—
—
—
0
0
6
27
2.39
0.97
16.7
2.5
—
—
—
0
0
38
329
1.74
0.76
5.9
3.1
5.6
5.7
mmol/l
0.25
38
315
7
43
1.73
0.70
1.1
1.3
—
—
—
0
0
11
72
1.68
0.66
1.8
3.1
0.9
0.8
mg/l
0.07
11
57
5
85
0.54
0.63
3.2
1.6
—
—
—
0
0
0
19
0.00
0.62
0.0
1.2
—
0.2
—
0
12
0
21
0.00
0.61
0.0
1.4
—
—
—
0
0
42
385
1.73
0.60
35.9
11.4
36.8
41.2
%
4.21
37
330
7
45
1.65
0.52
1.1
2.0
—
—
—
0
0
41
378
1.58
0.45
36.6
13.8
331.3
335.9
g/l
2.33
41
378
0
18
0.00
0.40
0.0
1.4
—
—
—
0
0
0
18
0.00
0.40
0.0
1.2
—
8.5
—
0
12
0
18
0.00
0.40
0.0
1.4
—
—
—
0
0
30
331
0.75
0.35
5.5
4.4
1.9
1.8
mu/l
0.15
30
316
5
39
1.31
0.24
1.2
1.3
—
—
—
0
0
0
11
0.00
0.21
0.0
7.7
—
—
—
0
0
0
11
0.00
0.21
0.0
4.6
—
4.5
—
0
11
0
11
0.00
0.21
0.0
4.7
—
439.6
—
0
11
0
10
0.00
0.21
0.0
1.3
—
—
—
0
0
0
12
0.00
0.21
0.0
4.4
—
3.4
—
0
12
0
12
0.00
0.21
0.0
4.4
—
344.2
—
0
12
0
13
0.00
0.21
0.0
1.6
—
—
—
0
0
0
13
0.00
0.21
0.0
1.1
—
—
—
0
0
10
87
1.19
0.10
3.2
3.9
2.5
1.5
ug/l
—
10
82
7
67
1.05
0.08
5.9
3.0
—
—
—
0
0
8
74
1.10
0.08
2.5
2.0
—
—
—
0
0
13
141
0.89
0.06
3.5
2.3
—
—
—
0
0
26
269
0.93
0.03
4.7
3.5
18.8
7.2
mm/h
2.25
26
255
28
282
0.98
0.00
4.5
3.8
14.8
14.9
pmol/l
0.06
28
268
6
59
1.02
0.00
1.0
1.2
—
—
—
0
0
0
5
0.00
0.00
0.0
1.2
—
1.5
—
0
5
0
7
0.00
0.00
0.0
1.1
—
—
—
0
0
0
7
0.00
0.00
0.0
6.9
—
—
—
0
0
0
7
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
1.3
—
—
—
0
0
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
0
8
0.00
0.00
0.0
1.1
—
—
—
0
0
0
7
0.00
0.00
0.0
1.1
—
—
—
0
0
8
84
0.94
0.00
12.1
5.7
—
—
—
0
0
0
5
0.00
0.00
0.0
1.6
—
—
—
0
0
0
5
0.00
0.00
0.0
1.8
—
1.4
—
0
5
0
7
0.00
0.00
0.0
1.1
—
—
—
0
0
0
8
0.00
0.00
0.0
1.1
—
—
—
0
0
0
6
0.00
0.00
0.0
5.8
—
—
—
0
0
0
9
0.00
0.00
0.0
5.7
—
—
—
0
0

Mortality – FinRegistry

This endpoint is excluded (different definition than used in FinnGen).

Relationships between endpoints

Index endpoint: Q17_ALPORT – Alport

GWS hits: -

This endpoint is excluded (different definition than used in FinnGen).