Mastocytosis

Q17_MASTOCYTOSIS

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 Q82.2
  • Cause of death: ICD-10 Q82.2

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

190

4. Check minimum number of events

None

190

5. Include endpoints

None

190

6. Filter based on genotype QC (FinnGen only)

190

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 190 111 79
Unadjusted period prevalence (%) 0.04 0.04 0.03
Median age at first event (years) 47.26 45.84 49.26

-FinnGen-

Age distribution of first events

-FinnGen-

Year distribution of first events

-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.

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
37
15
30.39
53.60
1.3
1.3
—
—
—
0
0
40
23
21.76
50.33
1.3
1.7
—
—
—
0
0
35
50
8.35
24.21
1.3
1.2
—
—
—
0
0
19
12
17.48
22.25
1.3
1.2
—
—
—
0
0
148
800
4.85
20.15
9.1
5.9
0.5
0.6
e9/l
1.74
142
701
148
800
4.85
20.15
9.1
6.0
0.0
0.0
e9/l
0.79
142
705
150
830
4.83
19.49
9.3
6.6
0.2
0.2
e9/l
0.44
143
740
149
828
4.71
19.05
9.1
6.0
2.1
2.0
e9/l
0.36
143
743
112
523
3.78
18.24
8.5
6.0
—
—
—
0
0
152
933
4.15
15.08
10.8
10.0
3.6
4.0
e9/l
1.49
145
815
124
712
3.13
12.79
9.9
8.9
0.0
0.0
e9/l
0.29
111
571
39
114
4.05
12.17
3.6
3.6
70.2
69.1
e9/l
0.08
34
87
121
703
2.99
11.90
8.1
8.6
1.2
1.2
mmol/l
0.40
105
605
113
648
2.84
11.13
6.7
8.1
1.2
1.2
mmol/l
0.04
106
593
29
74
4.44
10.76
2.6
2.4
—
—
—
0
0
36
112
3.73
10.21
8.8
4.1
0.1
0.3
%
—
10
36
82
413
2.73
10.19
4.8
3.6
7.4
7.4
ph
0.75
13
74
36
113
3.70
10.07
8.9
3.8
0.8
0.5
%
—
8
23
15
22
7.32
9.88
2.3
3.2
—
—
—
0
0
40
137
3.43
9.80
1.5
1.4
—
—
—
0
0
14
8
18.74
9.56
2.4
3.5
55.7
105.6
ug/l
—
14
8
78
395
2.65
9.45
7.9
7.5
—
—
—
0
0
33
106
3.56
8.88
8.8
4.2
0.3
0.0
%
—
7
28
36
124
3.35
8.70
9.0
3.9
0.7
1.0
%
—
10
41
102
626
2.36
7.77
5.8
5.4
38.1
36.2
g/l
3.53
96
595
10
15
6.98
6.37
1.7
2.5
33.7
32.4
pg
—
10
15
65
385
2.05
4.90
6.5
4.6
—
—
—
0
0
6
6
10.27
3.52
2.7
3.2
—
—
—
0
0
25
122
2.21
3.04
6.2
11.6
—
—
—
0
0
71
493
1.70
3.01
2.7
3.5
2.4
2.4
mmol/l
0.39
65
435
6
9
6.84
2.89
1.5
1.8
1.8
3.1
mg/l
—
6
9
9
23
4.05
2.81
1.2
1.3
—
—
—
0
0
5
7
7.30
2.56
1.0
1.4
—
—
—
0
0
6
11
5.59
2.56
1.8
1.5
0.8
0.9
g/l
—
6
11
13
52
2.61
2.41
1.5
2.7
1.0
1.5
g/l
1.47
13
46
14
60
2.44
2.28
4.8
2.2
107.3
4623.6
u/l
—
8
20
7
18
4.00
2.27
1.0
1.2
—
—
—
0
0
5
10
5.10
2.08
1.2
1.5
—
—
—
0
0
5
12
4.25
1.83
2.0
1.5
—
—
—
0
0
173
1598
1.92
1.82
17.5
12.7
15.5
21.3
mg/l
2.45
137
1217
39
262
1.61
1.80
3.2
3.5
403.9
180.9
ng/l
0.24
29
189
48
341
1.55
1.75
2.5
2.2
3.1
3.3
mg/l
0.24
40
290
27
166
1.73
1.73
2.0
1.7
—
—
—
0
0
6
19
3.23
1.67
1.2
1.5
—
—
nmol/l
—
0
0
12
56
2.22
1.65
1.8
1.6
—
—
—
0
0
63
481
1.46
1.63
3.5
2.3
—
—
—
0
0
76
602
1.44
1.62
2.0
2.0
—
—
—
0
0
52
384
1.49
1.58
1.4
1.4
2.0
2.2
g/l
0.37
33
230
5
15
3.39
1.53
1.2
1.1
—
—
—
0
0
57
432
1.46
1.52
1.8
2.2
439.9
337.5
u/l
0.13
52
408
68
533
1.43
1.51
4.8
3.7
33.2
46.7
e6/l
0.34
48
384
18
102
1.84
1.51
7.4
11.8
24.2
24.6
mmol/l
0.23
18
102
6
22
2.78
1.44
1.2
1.4
—
—
—
0
0
7
29
2.47
1.40
5.9
3.8
53.7
56.6
%
—
7
29
7
29
2.47
1.40
5.1
3.6
3.0
4.3
e9/l
—
7
29
18
105
1.79
1.39
1.3
1.5
—
—
—
0
0
54
415
1.42
1.32
3.7
3.0
0.2
0.3
e6/l
0.49
39
313
6
24
2.55
1.31
1.3
1.0
—
—
—
0
0
21
133
1.65
1.23
2.6
3.1
0.2
0.2
g/l
0.45
21
127
47
357
1.42
1.22
6.2
4.4
—
—
—
0
0
53
413
1.39
1.19
1.3
1.3
0.7
1.9
u/ml
1.78
13
112
53
415
1.38
1.16
4.2
2.7
—
—
—
0
0
5
20
2.54
1.16
17.4
3.7
—
—
—
0
0
30
212
1.49
1.13
1.2
1.2
—
—
—
0
0
15
89
1.74
1.11
5.2
8.6
—
—
—
0
0
17
105
1.68
1.10
2.1
1.7
2.3
1.3
g/l
0.46
17
94
20
130
1.60
1.08
8.3
13.7
96.0
94.9
%
0.34
20
125
22
148
1.55
1.03
2.5
6.7
—
—
—
0
0
7
35
2.04
1.01
1.0
1.9
—
—
—
0
0
55
443
1.34
1.00
2.6
3.3
9.4
8.0
mmol/l
1.08
50
375
155
1445
1.39
0.98
4.1
3.8
1.3
1.3
mmol/l
0.21
147
1338
57
465
1.32
0.95
3.8
3.1
61.6
36.9
e6/l
0.30
43
360
6
27
2.26
0.94
2.3
3.2
—
—
—
0
0
62
514
1.31
0.92
1.9
1.9
93.1
98.4
pmol/l
0.45
34
255
11
63
1.79
0.92
11.0
14.9
23.4
24.7
mmol/l
0.89
11
58
159
1497
1.38
0.87
18.6
14.2
39.9
40.5
%
0.55
126
1178
51
415
1.31
0.86
3.8
2.9
—
—
—
0
0
13
199
0.63
0.84
1.3
1.3
—
—
—
0
0
42
335
1.33
0.82
2.6
3.3
—
—
—
0
0
11
66
1.71
0.80
11.1
20.5
—
—
—
0
0
8
48
1.70
0.80
1.6
1.2
—
—
—
0
0
36
282
1.34
0.79
3.6
2.8
585.2
573.7
mosm/kgh2o
0.12
31
247
113
1024
1.26
0.79
3.4
3.5
—
—
—
0
0
0
27
0.00
0.78
0.0
1.0
—
—
—
0
0
44
356
1.31
0.78
2.0
2.0
1.1
1.8
mg/l
0.48
31
282
6
34
1.79
0.77
1.7
1.5
—
—
—
0
0
68
583
1.26
0.77
2.2
2.8
—
—
—
0
0
24
177
1.41
0.75
1.2
1.2
—
—
—
0
0
5
24
2.11
0.75
2.8
2.8
—
—
—
0
0
23
169
1.41
0.74
2.3
1.5
—
—
—
0
0
96
860
1.24
0.72
5.8
5.7
6.3
6.5
mmol/l
0.54
90
797
39
314
1.30
0.71
3.2
2.4
4.8
4.4
e6/l
0.09
33
285
5
26
1.95
0.71
2.6
7.5
75.2
70.7
%
—
5
26
18
127
1.46
0.71
1.1
1.5
—
—
—
0
0
20
145
1.42
0.69
8.3
12.6
5.0
5.0
kpa
0.01
20
139
20
145
1.42
0.69
8.3
12.5
11.9
12.4
kpa
0.23
20
139
5
30
1.68
0.62
2.6
4.4
6.6
6.9
mmol/l
—
5
30
97
1057
0.83
0.59
4.9
3.9
—
—
—
0
0
152
1445
1.26
0.59
5.7
4.6
2.0
1.9
mu/l
0.36
146
1331
84
756
1.20
0.57
4.3
4.5
0.0
0.0
estimate
0.00
16
144
85
766
1.20
0.57
3.0
3.3
0.0
0.0
estimate
0.00
15
138
6
39
1.56
0.53
3.2
4.2
—
—
—
0
0
156
1494
1.25
0.52
4.0
4.2
1.4
1.5
mmol/l
1.61
148
1385
129
1214
1.19
0.51
4.9
3.8
14.5
14.6
pmol/l
0.21
123
1104
29
239
1.25
0.46
1.5
1.7
1083.2
1229.2
nmol/l
0.43
24
181
27
222
1.25
0.44
1.3
1.6
—
—
—
0
0
12
87
1.40
0.43
3.1
6.8
23.1
24.4
mmol/l
0.57
12
79
5
31
1.63
0.43
2.6
4.3
1.3
1.3
mmol/l
—
5
31
5
33
1.53
0.41
1.4
1.2
—
—
—
0
0
5
33
1.53
0.41
1.4
1.2
—
—
—
0
0
0
15
0.00
0.41
0.0
2.8
—
—
—
0
0
0
15
0.00
0.41
0.0
2.5
—
—
—
0
0
5
34
1.48
0.40
19.4
5.4
39.6
35.4
umol/l
—
5
29
156
1505
1.20
0.40
4.3
4.3
4.7
4.7
mmol/l
0.41
149
1404
0
18
0.00
0.40
0.0
15.2
—
969.1
—
0
18
0
18
0.00
0.40
0.0
17.0
—
1855.4
—
0
18
5
35
1.44
0.39
1.2
1.1
—
—
—
0
0
9
67
1.36
0.38
1.3
1.6
—
—
—
0
0
51
454
1.17
0.38
1.7
1.5
—
—
—
0
0
5
36
1.40
0.38
1.0
1.0
5.2
8.4
mu/l
—
5
29
16
126
1.29
0.36
6.9
4.5
—
—
—
0
0
157
1521
1.19
0.35
4.5
4.6
2.8
2.8
mmol/l
0.05
151
1412
6
45
1.34
0.34
1.2
1.4
—
—
—
0
0
36
406
0.86
0.31
1.3
1.7
1.2
1.4
mmol/l
0.79
30
334
14
111
1.28
0.31
3.6
3.1
—
—
—
0
0
81
756
1.12
0.31
2.9
3.3
0.0
0.0
estimate
0.00
14
147
164
1677
0.84
0.30
14.0
11.6
—
—
—
0
0
41
366
1.15
0.30
1.7
2.0
—
—
—
0
0
25
214
1.19
0.29
1.6
2.2
—
—
—
0
0
10
76
1.33
0.28
1.2
1.1
—
—
—
0
0
147
1427
1.13
0.26
21.8
16.5
333.0
333.1
g/l
0.06
147
1420
6
84
0.71
0.24
5.7
10.1
—
—
—
0
0
5
38
1.32
0.23
1.4
1.7
—
—
—
0
0
8
103
0.77
0.21
1.6
1.2
—
—
—
0
0
0
11
0.00
0.21
0.0
1.3
—
—
—
0
0
0
10
0.00
0.21
0.0
1.4
—
—
—
0
0
0
12
0.00
0.21
0.0
1.0
—
—
—
0
0
0
12
0.00
0.21
0.0
1.2
—
99.8
—
0
12
0
12
0.00
0.21
0.0
3.2
—
11.0
—
0
12
0
12
0.00
0.21
0.0
3.4
—
—
—
0
0
0
12
0.00
0.21
0.0
1.1
—
—
—
0
0
0
14
0.00
0.20
0.0
1.6
—
—
—
0
0
6
49
1.23
0.20
3.7
2.9
—
—
—
0
0
32
290
1.12
0.19
1.5
1.7
—
—
—
0
0
6
53
1.14
0.19
1.2
1.2
—
—
—
0
0
7
59
1.19
0.18
1.6
1.4
—
—
—
0
0
11
91
1.22
0.18
2.5
1.9
—
—
—
0
0
150
1469
1.10
0.17
4.1
4.1
5.9
5.8
mmol/l
0.15
144
1360
36
390
0.91
0.17
3.7
3.3
—
—
—
0
0
31
283
1.11
0.17
1.4
1.7
428.8
460.8
pmol/l
0.21
24
240
18
158
1.15
0.17
1.1
1.2
—
—
—
0
0
8
70
1.15
0.16
2.9
3.1
—
—
—
0
0
30
274
1.11
0.16
1.4
1.3
192.7
29.3
iu/ml
—
9
94
12
102
1.19
0.15
1.2
1.2
—
—
—
0
0
11
93
1.19
0.15
1.2
1.5
—
—
—
0
0
29
267
1.10
0.14
1.2
1.3
5.6
6.6
u/ml
0.08
13
103
14
158
0.88
0.12
1.6
1.8
—
—
—
0
0
20
182
1.11
0.11
1.1
1.4
—
—
—
0
0
11
125
0.87
0.10
1.0
1.6
—
—
—
0
0
58
559
1.05
0.09
13.2
7.2
1.2
1.2
inr
0.06
13
163
7
65
1.08
0.08
1.6
1.7
—
—
—
0
0
8
76
1.05
0.07
1.3
1.5
—
—
—
0
0
7
81
0.86
0.07
1.6
1.9
—
—
—
0
0
11
99
1.12
0.06
1.2
1.5
—
—
—
0
0
16
148
1.09
0.06
1.3
1.4
—
—
—
0
0
42
406
1.04
0.05
3.0
3.4
0.0
0.0
estimate
0.00
15
145
11
100
1.11
0.05
1.2
1.5
—
—
—
0
0
11
100
1.11
0.05
1.2
1.5
—
—
—
0
0
38
373
1.02
0.01
3.6
3.2
1964.3
261.9
mg/l
0.41
24
239
20
194
1.03
0.00
1.8
1.8
—
—
—
0
0
13
134
0.97
0.00
2.5
3.3
—
—
—
0
0
10
99
1.01
0.00
1.2
1.5
—
—
—
0
0
53
531
1.00
0.00
2.9
3.3
26.7
34.1
ng/l
0.34
33
330
16
163
0.98
0.00
2.3
4.8
3.0
9.3
ug/l
1.29
11
130
23
233
0.99
0.00
2.4
2.8
0.6
0.8
ug/l
0.86
11
142
40
395
1.02
0.00
3.9
3.9
7.7
57.3
mg/mmol
0.56
26
247
0
8
0.00
0.00
0.0
1.3
—
—
—
0
0
0
8
0.00
0.00
0.0
1.0
—
—
—
0
0
0
8
0.00
0.00
0.0
7.3
—
—
—
0
0
0
8
0.00
0.00
0.0
2.0
—
—
—
0
0
0
8
0.00
0.00
0.0
1.9
—
112.5
—
0
8
0
8
0.00
0.00
0.0
2.0
—
—
—
0
0
0
8
0.00
0.00
0.0
4.5
—
52.8
—
0
8
0
8
0.00
0.00
0.0
3.1
—
—
—
0
0
0
8
0.00
0.00
0.0
1.9
—
—
—
0
0
5
49
1.02
0.00
1.6
1.3
—
—
—
0
0
0
7
0.00
0.00
0.0
7.7
—
7.6
—
0
7
0
9
0.00
0.00
0.0
3.1
—
—
—
0
0
0
7
0.00
0.00
0.0
1.0
—
—
—
0
0
21
210
1.00
0.00
1.2
1.5
—
—
—
0
0
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
8
88
0.91
0.00
7.3
11.9
24.6
24.6
mmol/l
—
8
83
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
0
5
0.00
0.00
0.0
1.0
—
—
—
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
5
0.00
0.00
0.0
1.0
—
—
—
0
0
0
7
0.00
0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
0.00
0.0
1.8
—
—
—
0
0
0
6
0.00
0.00
0.0
1.2
—
103.3
—
0
6
0
9
0.00
0.00
0.0
1.2
—
—
—
0
0
0
6
0.00
0.00
0.0
1.2
—
—
—
0
0
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
5
50
1.00
0.00
2.4
11.3
—
—
—
0
0
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
44
440
1.00
0.00
2.9
2.9
—
—
—
0
0

Mortality – FinRegistry

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

Relationships between endpoints

Index endpoint: Q17_MASTOCYTOSIS – Mastocytosis

GWS hits: -

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