No definition available.
Endpoint definition
↥Report an error or suggest an improvement for this endpoint codes
Endpoint definition steps |
FinnGen |
|---|---|
Phenotype data |
557745 |
1. Apply sex-specific ruleNone |
557745 |
2. Check conditionsNone |
557745 |
3. Check pre-conditions, main-only, mode, registry filtersRegistry filters:
2 out of 7 registries used, show all original rules. |
595 |
4. Check minimum number of eventsNone |
595 |
5. Include endpointsNone |
595 |
6. Filter based on genotype QC (FinnGen only) |
539 |
Control definitions (FinnGen only)
- Control exclude
- H7_CHOROIDRETINA
Extra metadata
- Level in the ICD hierarchy
- 4
- First used in FinnGen datafreeze
- DF2
- Parent code in ICD-10
- H35
- Name in latin
- Dystrophia retinae hereditaria
Similar endpoints
↥List of similar endpoints to
Hereditary retinal dystrophy
based on the number of shared cases.
Similar with more cases:
- Other retinal disorders
- Disorders of choroid and retina
- Diseases of the eye and adnexa
- Any event in hilmo or specialist outpatient
Similar with less cases:
None
Case counts by codes
↥
Summary Statistics
↥-FinRegistry-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | |||
| Whole population | 4684 | 2315 | 2334 |
| Only index persons | 4245 | 2126 | 2119 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.07 | 0.07 | 0.07 |
| Only index persons | 0.08 | 0.08 | 0.08 |
| Median age at first event (years) | |||
| Whole population | 47.51 | 50.32 | 44.83 |
| Only index persons | 46.92 | 49.66 | 44.17 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 539 | 295 | 244 |
| Unadjusted period prevalence (%) | 0.11 | 0.10 | 0.11 |
| Median age at first event (years) | 48.76 | 48.69 | 48.85 |
-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
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
- 563
- Matched controls
- 5630
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
H35.5
ICD-10 Finland
Hereditary retinal dystrophy
+∞
307.7
551
*
CK2X4
NOMESCO Finland
Optical coherence tomography (OCT) of ocular fundus
20.2
239.5
216
168
XCW99
NOMESCO Finland
Other investigative procedure of eye
18.6
233.3
223
192
XCK00
NOMESCO Finland
Perimetry
23.6
232.9
188
117
CS424
NOMESCO Finland
Visual field testing with Goldmann perimetry
89.9
206.0
109
15
CK2S4
NOMESCO Finland
Plain photography of ocular fundus
25.8
200.8
151
79
XCD10
NOMESCO Finland
Electrophysiological examination of eye
37.7
200.3
129
44
Z3229
NOMESCO Finland
Other healthcare associate professional
13.0
172.5
202
232
H35.30
ICD-10 Finland
Kuhnt-Junius degeneration
57.7
161.3
92
19
H54.2
ICD-10 Finland
Moderate visual impairment, binocular
90.8
161.1
85
11
XCK10
NOMESCO Finland
Photography of fundus of eye
10.5
123.5
160
205
R5110
NOMESCO Finland
Evaluation of the need for aids, the testing, fitting and choice of the aid, instruction in use and delivery of it
7.9
118.6
216
411
Z31.5
ICD-10 Finland
Genetic counselling
11.5
117.7
138
154
R2120
NOMESCO Finland
Counselling and guidance concerning rehabilitation services and social security
58.7
102.5
58
11
Z01.0
ICD-10 Finland
Examination of eyes and vision
6.1
92.0
221
538
ZXA10
NOMESCO Finland
Bilateral
5.5
79.8
213
561
H35.39
ICD-10 Finland
Degeneration of macula and posterior pole
152.8
76.1
79
6
H26.4
ICD-10 Finland
After-cataract
7.0
69.4
122
215
CK2A4
NOMESCO Finland
Autofluorescence imaging of ocular fundus
383.8
68.1
67
*
CJB10
NOMESCO Finland
Laser discission of secondary cataract
7.4
63.0
102
164
H26.2
ICD-10 Finland
Complicated cataract
26.8
57.4
40
16
Z50.8
ICD-10 Finland
Care involving use of other rehabilitation procedures
6.2
54.4
105
201
R5210
NOMESCO Finland
Assessment of the improvements needed in the living environment
182.5
48.7
50
*
Z96.1
ICD-10 Finland
Presence of intraocular lens
4.8
48.6
129
326
CS494
NOMESCO Finland
Other visual field testing
11.9
39.3
41
37
XCD20
NOMESCO Finland
Photoangiography of eye
90.7
38.4
42
5
R1220
NOMESCO Finland
Psychological examination of need and possibilities to rehabilitation
14.4
36.8
34
25
R4160
NOMESCO Finland
Other therapy enhancing rehabilitation
10.1
33.6
39
41
H35.31
ICD-10 Finland
Senile macular degeneration (atrophic)(exudative)
96.0
33.1
36
*
H35.9
ICD-10 Finland
Retinal disorder, unspecified
180.6
33.1
34
*
Z3231
NOMESCO Finland
Registered nurse
2.9
30.7
219
1022
R3120
NOMESCO Finland
Training in mobility skills
54.8
30.7
36
7
H26.02
ICD-10 Finland
Presenil cataract
8.0
27.9
39
52
CJE20
NOMESCO Finland
Phakoemulsification with implantation of artificial lens in posterior chamber
2.7
26.4
203
972
3627A
ICD-9 Finland
Other retinal disorders, Hereditary retinal dystrophies[DYSTROPHIA RETINAE PIGMENTOSA]
+∞
25.2
24
*
CS444
NOMESCO Finland
Visual field testing with Octopus automated perimetry
6.3
24.7
43
73
H54.0
ICD-10 Finland
Blindness, binocular
250.2
23.8
24
*
Z2446
NOMESCO Finland
Social worker
4.0
23.5
72
198
74483
ICD-8 Finland
Congenital anomalies of eye, Retinitis pigmentosa
+∞
23.1
22
*
CKD05
NOMESCO Finland
Puncture of vitreous body with injection of medication
47.1
22.6
27
6
WX140
NOMESCO Finland
Parabulbar anesthesy
8.0
21.0
29
38
H35.8
ICD-10 Finland
Other specified retinal disorders
+∞
19.9
19
*
CK2L4
NOMESCO Finland
Wide-field/panoramic imaging of ocular fundus
39.9
18.7
23
6
H35.4
ICD-10 Finland
Peripheral retinal degeneration
185.6
17.6
18
*
Z2221
NOMESCO Finland
Medical doctor
2.3
17.3
187
1014
H54.7
ICD-10 Finland
Unspecified visual loss
20.1
17.0
25
13
R2130
NOMESCO Finland
Counselling and guidance which enhance independent living
3.2
16.9
73
251
H53.4
ICD-10 Finland
Visual field defects
6.7
16.8
27
42
H35.38
ICD-10 Finland
Preretinal fibrosis of the macula
36.3
16.8
21
6
H90.3
ICD-10 Finland
Sensorineural hearing loss, bilateral
2.6
16.6
118
529
S01EC04
ATC
brinzolamide; ophthalmic
5.1
16.6
36
75
R5120
NOMESCO Finland
Preparation of an aid
4.8
15.6
36
79
F94
ICPC
Blindness
164.4
15.6
16
*
S01EC01
ATC
acetazolamide; systemic
6.8
14.6
23
35
Z01.1
ICD-10 Finland
Examination of ears and hearing
2.5
13.5
101
461
H25.1
ICD-10 Finland
Senile nuclear cataract
2.1
12.9
148
809
S01XA20
ATC
artificial tears and other indifferent preparations; ophthalmic
1.9
12.6
243
1594
3627X
ICD-9 Finland
Other retinal disorders, Hereditary retinal dystrophies[DYSTROPHIA RETINAE HEREDITARIA ALIA]
+∞
12.5
12
*
H35.36
ICD-10 Finland
Macular cyst
+∞
12.5
12
*
H53.6
ICD-10 Finland
Night blindness
+∞
12.5
12
*
G71.3
ICD-10 Finland
Mitochondrial myopathy, not elsewhere classified
132.9
12.5
13
*
H54.3
ICD-10 Finland
Mild or no visual impairment, binocular
38.5
12.3
15
*
Z46.1
ICD-10 Finland
Fitting and adjustment of hearing aid
3.2
12.2
49
161
S01EC03
ATC
dorzolamide; ophthalmic
11.4
11.6
21
19
37719
ICD-8 Finland
Other diseases of retina and optic nerve, Aliae degenerationes retinae
+∞
11.5
11
*
Z02.4
ICD-10 Finland
Examination for driving licence
0.3
11.2
39
1047
R5130
NOMESCO Finland
Repair work or maintenance done on the aid
3.7
11.1
35
98
S01CA01
ATC
dexamethasone and antiinfectives; ophthalmic
1.9
10.8
185
1153
H52.1
ICD-10 Finland
Myopia
3.6
10.7
36
105
DAX00
NOMESCO Finland
Adjustment or review of hearing aid
3.2
10.7
43
141
Z97.4
ICD-10 Finland
Presence of external hearing-aid
3.4
10.6
39
121
CM2X4
NOMESCO Finland
Follow-up OCT of age-related macular degeneration lesions
112.0
10.5
11
*
H54.1
ICD-10 Finland
Severe visual impairment, binocular
112.0
10.5
11
*
CS434
NOMESCO Finland
Visual field testing with Humphrey automated perimetry
7.7
10.3
23
31
RK320, ,
NOMESCO Finland
13.7
9.7
16
12
H35.0
ICD-10 Finland
Background retinopathy and retinal vascular changes
56.0
9.7
11
*
DFF15
NOMESCO Finland
Speech audiometry
3.1
9.7
41
139
XCH00
NOMESCO Finland
Eye pressure measurement
3.7
9.5
30
84
CK9F4
NOMESCO Finland
Fluorescein angiography (FAG) of choroid and retina
101.7
9.4
10
*
H30.9
ICD-10 Finland
Chorioretinal inflammation, unspecified
+∞
9.4
9
*
Q14.10
ICD-10 Finland
Congenital retinoschis
+∞
9.4
9
*
3663A
ICD-9 Finland
Cataract secondary to ocular disorders
+∞
9.4
9
*
CKC12
NOMESCO Finland
Photocoagulation of retina
22.1
9.4
13
6
3626
FHL
Extracapsular cataract surgery and implantation of an artificial lens
11.7
9.1
16
14
RK110, ,
NOMESCO Finland
10.9
8.8
16
15
DFF00
NOMESCO Finland
Pure tone audiometry
2.3
8.5
67
312
H44.2
ICD-10 Finland
Degenerative myopia
91.4
8.4
9
*
WX100
NOMESCO Finland
Conjunctival surface anesthesia
2.2
8.4
71
340
DFF30
NOMESCO Finland
Loudness discomfort Level (LDL)
3.7
8.4
26
72
37710
ICD-8 Finland
Other diseases of retina and optic nerve, Degeneratio maculae luteae
+∞
8.4
8
*
H35.7
ICD-10 Finland
Separation of retinal layers
+∞
8.4
8
*
R29.8
ICD-10 Finland
Other and unspecified symptoms and signs involving the nervous and musculoskeletal systems
2.5
8.2
55
238
H47.2
ICD-10 Finland
Optic atrophy
17.5
8.1
12
7
H53.1
ICD-10 Finland
Subjective visual disturbances
2.6
8.1
49
202
R5599
NOMESCO Finland
Other rehabilitation service
3.5
7.8
26
76
RK322, ,
NOMESCO Finland
45.6
7.7
9
*
H20.1
ICD-10 Finland
Chronic iridocyclitis
18.7
7.6
11
6
F05
ICPC
Visual disturbance other
3.4
7.6
27
82
Z2445
NOMESCO Finland
Psychologist
2.9
7.5
36
131
S01BC03
ATC
diclofenac; ophthalmic
6.1
7.4
19
32
H33.3
ICD-10 Finland
Retinal breaks without detachment
81.1
7.4
8
*
37711
ICD-8 Finland
Other diseases of retina and optic nerve, Degeneratio retinae
+∞
7.3
7
*
H31.2
ICD-10 Finland
Hereditary choroidal dystrophy
+∞
7.3
7
*
CK2K4
NOMESCO Finland
Red-free imaging of ocular fundus
+∞
7.3
7
*
H25.8
ICD-10 Finland
Other senile cataract
2.3
7.0
55
256
AA1AD
NOMESCO Finland
CT of head and brain
1.7
6.9
155
1026
U07
ICPC
Urine symptom/complaint other
2.3
6.9
55
257
H57.9
ICD-10 Finland
Disorder of eye and adnexa, unspecified
8.4
6.9
14
17
H40.5
ICD-10 Finland
Glaucoma secondary to other eye disorders
11.1
6.8
12
11
CKD91
NOMESCO Finland
Extended vitrectomy through pars plana
40.6
6.8
8
*
H53.5
ICD-10 Finland
Colour vision deficiencies
40.6
6.8
8
*
ZXA05
NOMESCO Finland
Left side
1.7
6.6
127
804
XCW10
NOMESCO Finland
Assessment of vision
7.9
6.6
14
18
A28
ICPC
Limited function/disability NOS
1.9
6.6
96
559
F99
ICPC
Eye/adnexa disease other
10.2
6.6
12
12
R5140
NOMESCO Finland
Monitoring the use of the aid
2.0
6.5
70
368
N03AX14
ATC
levetiracetam; systemic
3.4
6.5
23
70
ZXA00
NOMESCO Finland
Right side
1.7
6.5
139
909
RK321, ,
NOMESCO Finland
70.6
6.4
7
*
RS226, ,
NOMESCO Finland
70.6
6.4
7
*
H33.0
ICD-10 Finland
Retinal detachment with retinal break
70.6
6.4
7
*
Z71.8
ICD-10 Finland
Other specified counselling
1.6
6.3
192
1371
DFE00
NOMESCO Finland
Insertion of cochlear implant
18.3
6.3
9
5
37002
ICD-8 Finland
Refractive errors, Myopia
27.0
6.2
8
*
RS222, ,
NOMESCO Finland
6.8
6.1
14
21
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
267
2074
1.55
6.00
5.0
4.9
36.07
36.12
g/l
0.05
252
1956
84
492
1.83
5.67
6.9
5.2
1.98
1.99
mmol/l
0.01
76
433
150
1045
1.59
5.33
2.7
2.7
4.35
6.07
e6/l
0.97
123
959
13
23
5.76
5.09
2.1
3.3
1051.38
780.26
u/ml
0.20
13
23
260
2062
1.48
5.01
2.1
2.1
102.11
96.58
pmol/l
0.76
132
1073
110
721
1.65
4.97
1.7
1.7
1152.93
1184.52
nmol/l
0.10
78
546
181
1340
1.52
4.84
4.0
3.2
0.41
0.31
e6/l
0.19
135
963
204
1555
1.49
4.71
4.0
3.3
41.56
43.34
e6/l
0.04
153
1179
411
3626
1.49
4.27
7.6
8.1
81.69
79.07
u/l
0.34
387
3443
480
4391
1.63
4.12
5.7
5.2
1.92
1.90
mu/l
0.13
444
4078
24
98
2.51
4.10
1.9
4.5
34.58
39.00
umol/l
0.35
19
88
289
2399
1.42
4.08
8.5
7.6
1.22
1.21
mmol/l
0.50
253
2085
113
783
1.55
4.02
3.8
3.0
2.86
2.54
e6/l
0.12
63
381
261
2133
1.42
4.00
2.8
2.5
79.76
76.41
nmol/l
1.17
236
1936
118
834
1.52
3.83
3.8
2.9
1.43
0.98
e6/l
0.51
69
428
511
4783
1.74
3.61
20.9
18.0
3.96
3.97
mmol/l
0.35
495
4681
510
4773
1.73
3.58
20.7
17.9
139.55
139.66
mmol/l
0.40
498
4683
186
1455
1.42
3.56
3.1
2.2
340.39
258.55
u/l
0.20
178
1395
262
2177
1.38
3.49
7.8
7.1
1.22
1.21
mmol/l
1.31
245
2023
295
2519
1.36
3.23
4.9
6.6
12.37
11.72
umol/l
0.23
283
2420
442
4037
1.44
3.16
21.9
19.2
13.61
13.53
%
0.63
436
3996
528
5023
1.82
3.04
22.1
19.4
79.66
75.75
umol/l
0.95
521
4959
481
4492
1.49
2.80
16.9
14.4
82.92
83.59
ml/min/173m2
0.27
437
4122
93
668
1.47
2.77
8.0
7.8
103.62
104.09
mmol/l
0.35
93
668
45
273
1.70
2.75
7.0
10.1
15.96
15.84
%
0.12
45
262
79
552
1.50
2.70
5.5
8.6
1.27
1.01
mmol/l
0.26
64
463
524
4999
1.70
2.64
12.3
11.7
27.01
27.16
u/l
0.08
504
4864
23
114
2.06
2.60
1.3
1.8
65.47
1170.31
e6/l
0.56
17
87
68
466
1.52
2.55
6.1
9.1
120.51
121.76
g/l
0.20
68
455
51
334
1.58
2.34
2.5
2.6
24.66
21.23
au/ml
—
5
33
22
113
1.99
2.28
1.3
1.7
2.86
13.82
e6/l
0.98
14
84
196
1642
1.30
2.22
2.6
3.3
2.35
2.36
mmol/l
0.37
172
1487
403
3702
1.31
2.21
4.8
4.3
14.67
14.72
pmol/l
0.16
367
3427
386
3534
1.29
2.12
4.5
4.3
12.04
11.22
mm/h
0.48
361
3306
79
584
1.41
2.04
1.8
2.0
—
—
—
0
0
96
737
1.36
1.98
3.3
2.4
2.35
2.34
g/l
0.06
88
680
10
39
2.59
1.95
1.0
1.3
101.30
105.28
pmol/l
—
10
39
51
351
1.50
1.91
6.5
3.8
86.70
81.60
ng/l
0.18
46
315
146
1198
1.30
1.91
2.2
2.1
2.87
2.92
mg/l
0.11
125
1031
18
93
1.97
1.87
1.9
2.5
65.90
107.85
ug/min
—
10
59
63
455
1.43
1.86
2.7
3.4
—
—
—
0
0
103
808
1.34
1.85
2.8
4.3
0.83
0.82
mmol/l
0.59
96
774
116
928
1.31
1.82
2.5
2.7
2.43
2.45
mmol/l
0.52
96
828
24
138
1.77
1.82
3.5
2.9
1.55
2.71
ratio
0.88
11
84
29
177
1.67
1.80
1.4
1.3
—
—
—
0
0
66
484
1.41
1.80
2.1
2.4
29.78
41.98
u/l
0.66
55
406
87
671
1.35
1.75
3.5
2.4
22.81
23.14
%
0.09
82
630
465
4406
1.32
1.71
6.9
6.0
39.38
38.69
mmol/mol
0.34
431
4156
255
2260
1.23
1.70
3.2
3.0
110.67
120.79
ug/l
0.46
233
2122
12
55
2.21
1.68
4.9
5.8
6.70
6.79
mmol/l
0.04
12
44
175
1491
1.25
1.67
2.9
2.5
56.51
65.11
u/l
0.84
160
1388
6
19
3.18
1.66
1.2
1.2
—
—
—
0
0
73
560
1.35
1.54
1.9
2.0
—
—
—
0
0
533
5180
1.54
1.52
26.6
23.3
253.98
250.97
e9/l
0.44
517
5094
533
5180
1.54
1.52
26.5
23.3
90.61
90.81
fl
0.42
526
5135
52
378
1.41
1.51
1.5
1.4
—
—
—
0
0
157
1335
1.24
1.51
3.0
3.4
1588.22
1141.35
ng/l
0.52
131
1128
533
5182
1.54
1.50
27.3
23.8
48.01
40.67
%
0.45
525
5132
533
5182
1.54
1.50
26.6
23.3
4.50
4.53
e12/l
0.50
517
5084
533
5183
1.53
1.48
26.8
23.5
134.76
136.34
g/l
1.66
526
5137
36
245
1.50
1.46
1.6
1.5
30.50
24.35
iu/l
0.48
29
208
239
2131
1.21
1.44
18.6
13.0
1.30
1.22
inr
1.19
201
1761
112
924
1.26
1.40
3.3
4.0
53.56
519.57
ng/l
3.16
89
708
49
359
1.40
1.38
3.9
4.1
1.22
1.23
mmol/l
0.28
40
318
307
2814
1.20
1.36
9.9
10.2
4.24
4.06
e9/l
0.54
257
2440
96
783
1.27
1.32
2.0
2.0
—
—
—
0
0
306
2811
1.19
1.30
6.2
5.3
6.63
6.58
mmol/l
0.17
294
2670
29
422
0.67
1.30
1.9
1.7
3.28
3.54
mmol/l
0.48
21
311
174
1518
1.21
1.29
4.2
3.9
10.28
8.62
mg/mmol
0.18
111
947
8
34
2.37
1.29
1.0
1.0
—
—
—
0
0
21
130
1.64
1.28
2.5
3.2
0.90
1.95
index
—
10
72
90
731
1.28
1.28
2.0
3.0
29.13
29.50
s
0.31
90
711
14
77
1.84
1.26
1.1
1.1
—
1.50
—
0
12
157
1363
1.21
1.22
1.8
1.6
20.98
20.49
nmol/l
0.14
135
1150
19
117
1.65
1.19
1.3
1.4
219.58
250.97
u/ml
0.18
12
64
12
65
1.86
1.14
1.0
1.4
0.53
0.61
nmol/l
0.54
12
60
95
792
1.24
1.10
3.4
2.4
13.36
13.39
umol/l
0.01
90
740
37
271
1.39
1.08
2.3
1.7
—
—
—
0
0
54
421
1.31
1.06
8.2
7.5
8.56
8.71
mmol/l
0.07
54
401
7
33
2.13
1.06
1.1
1.3
—
—
—
0
0
43
561
0.75
1.05
2.2
2.0
3.23
3.56
ratio
1.16
36
450
11
60
1.85
1.03
1.2
1.1
—
—
—
0
0
(3016894) Varicella zoster virus DNA [Presence] in Cerebral spinal fluid by NAA with probe detection
7
34
2.07
1.03
1.1
1.1
—
—
—
0
0
189
1693
1.18
1.03
2.8
3.2
33.41
32.48
u/l
0.13
177
1614
46
589
0.76
0.99
2.3
2.1
—
—
—
0
0
13
211
0.61
0.98
1.1
1.2
0.84
0.92
g/l
0.46
13
211
5
23
2.18
0.98
2.8
1.3
54.60
77.08
ng/l
—
5
23
12
198
0.60
0.97
1.9
3.4
36.72
1181.02
u/ml
—
6
177
19
125
1.54
0.95
1.6
1.3
—
—
—
0
0
15
93
1.63
0.94
1.1
1.4
—
—
—
0
0
15
93
1.63
0.94
1.1
1.4
—
—
—
0
0
7
37
1.90
0.94
1.0
1.1
227.71
211.00
mg/l
—
7
31
354
3342
1.16
0.94
3.3
3.3
46.12
44.94
u/l
0.11
334
3180
9
52
1.74
0.92
1.0
1.0
—
—
—
0
0
15
96
1.58
0.85
3.9
4.1
18.80
29.66
mg/l
—
10
65
13
202
0.64
0.84
1.1
1.1
1.36
1.53
g/l
1.12
13
202
467
4523
1.19
0.82
5.4
4.9
5.92
5.89
mmol/l
0.20
431
4190
279
2609
1.14
0.80
4.8
3.8
0.05
0.61
estimate
0.45
58
502
24
173
1.40
0.80
1.5
1.5
0.02
0.05
iu/ml
—
7
31
0
24
0.00
0.79
0.0
1.0
—
—
—
0
0
0
24
0.00
0.79
0.0
1.9
—
—
—
0
0
0
26
0.00
0.78
0.0
1.9
—
—
—
0
0
0
27
0.00
0.77
0.0
1.9
—
—
—
0
0
0
27
0.00
0.77
0.0
1.2
—
9.93
—
0
27
218
2016
1.13
0.73
1.9
1.9
1.34
1.40
mmol/l
0.52
181
1735
10
60
1.68
0.72
1.2
1.1
—
—
—
0
0
275
2582
1.13
0.72
4.8
3.7
0.00
3.00
estimate
0.50
61
541
484
4715
1.19
0.72
17.5
15.5
23.10
23.94
mg/l
0.21
390
3839
5
26
1.93
0.71
1.2
1.1
—
—
—
0
0
296
3123
0.89
0.69
3.0
3.2
—
—
—
0
0
7
42
1.67
0.68
1.0
1.3
—
—
—
0
0
138
1247
1.14
0.66
2.6
2.8
345.89
342.36
umol/l
0.15
123
1108
476
4640
1.17
0.65
5.1
4.9
4.59
4.67
mmol/l
0.90
440
4353
26
336
0.76
0.64
1.8
2.2
—
—
—
0
0
181
1668
1.13
0.64
3.6
3.1
7.80
7.92
mmol/l
0.12
153
1437
453
4402
1.15
0.64
4.2
4.1
1.32
1.31
mmol/l
0.10
412
4084
482
4707
1.17
0.62
5.9
5.5
2.68
2.75
mmol/l
0.81
443
4395
34
272
1.27
0.61
1.1
1.0
—
—
—
0
0
0
20
0.00
0.60
0.0
1.3
—
9.20
—
0
20
0
21
0.00
0.60
0.0
3.9
—
198.67
—
0
21
43
355
1.23
0.59
2.0
1.6
—
—
—
0
0
55
645
0.84
0.59
2.3
2.3
—
—
—
0
0
6
37
1.63
0.55
1.0
1.1
317.67
287.84
mg/l
—
6
32
6
37
1.63
0.55
1.2
1.1
—
—
—
0
0
9
60
1.51
0.54
1.0
1.1
1.73
1.40
g/l
—
9
53
44
369
1.21
0.54
1.3
1.2
57.52
133.71
u/ml
2.08
12
151
138
1266
1.12
0.53
1.3
1.3
2.63
1.57
u/ml
0.25
33
348
9
63
1.44
0.52
1.1
1.1
—
—
—
0
0
119
1083
1.13
0.52
1.7
2.1
0.82
1.18
mg/l
1.83
88
844
31
251
1.25
0.52
1.5
1.6
0.41
0.31
mg/l
0.40
14
119
19
145
1.32
0.49
2.3
2.0
7.13
4.96
iu/l
—
10
56
43
364
1.20
0.49
3.3
2.8
59.91
70.75
ml/min/173m2
0.68
14
161
48
558
0.85
0.49
5.1
4.4
32.30
31.99
%
0.06
27
369
269
2563
1.09
0.49
4.8
3.7
0.00
0.00
estimate
-0.00
62
529
13
177
0.73
0.48
1.3
1.4
260.24
277.18
miu/ml
—
7
86
107
1168
0.90
0.45
2.4
2.5
—
—
—
0
0
24
193
1.25
0.44
1.8
1.9
2.89
3.64
mg/l
0.35
16
146
(3020427) Coagulation factor X inhibitor [Units/volume] in Platelet poor plasma by Coagulation assay
17
131
1.31
0.42
2.0
6.9
0.24
0.37
iu/ml
—
7
70
17
131
1.31
0.42
1.6
1.5
—
—
—
0
0
15
195
0.76
0.42
1.9
1.9
35.33
37.62
nmol/l
0.28
15
188
0
15
0.00
0.41
0.0
1.2
—
—
—
0
0
0
15
0.00
0.41
0.0
1.4
—
—
—
0
0
471
4623
1.12
0.41
5.1
4.8
1.45
1.46
mmol/l
0.24
432
4314
20
159
1.27
0.40
1.3
1.3
—
—
—
0
0
5
34
1.47
0.40
1.2
1.1
—
—
—
0
0
5
34
1.47
0.40
3.4
3.0
550.00
1446.44
mg
—
5
34
0
18
0.00
0.40
0.0
1.1
—
83.08
—
0
12
(3011547) Coagulation factor VII activity actual/normal in Platelet poor plasma by Coagulation assay
0
18
0.00
0.40
0.0
1.1
—
102.33
—
0
18
0
19
0.00
0.39
0.0
1.1
—
93.85
—
0
13
18
142
1.28
0.39
1.1
1.1
—
—
—
0
0
5
36
1.39
0.38
2.4
2.0
—
—
—
0
0
23
278
0.82
0.37
1.7
2.2
—
—
—
0
0
22
180
1.23
0.36
1.6
1.7
8.27
7.75
u/l
0.06
13
148
9
71
1.27
0.36
1.0
1.4
—
—
—
0
0
15
117
1.29
0.35
1.5
1.5
1.03
0.97
ratio
—
9
75
15
117
1.29
0.35
1.5
1.5
0.81
1.15
ratio
—
9
75
15
117
1.29
0.35
1.5
1.5
1.17
1.24
ratio
—
10
75
27
227
1.20
0.35
4.6
3.2
1.02
1.02
ratio
0.12
22
214
154
1454
1.08
0.34
3.9
3.1
0.08
0.06
estimate
0.07
53
428
6
45
1.34
0.34
1.8
2.3
—
—
—
0
0
189
1801
1.07
0.33
4.2
3.8
29.92
71.96
ng/l
0.69
136
1238
101
938
1.09
0.32
1.6
1.7
498.57
23750441.07
pmol/l
0.77
77
800
10
132
0.75
0.32
1.6
1.4
—
—
—
0
0
12
92
1.31
0.32
2.2
1.8
—
—
—
0
0
37
324
1.15
0.31
2.8
4.1
117.87
200.29
ng/l
2.05
31
296
152
1439
1.08
0.31
4.9
4.7
2.58
1.95
ug/l
0.81
140
1299
122
1145
1.08
0.31
4.0
4.1
22.03
21.26
%
0.20
54
499
7
55
1.28
0.30
1.3
1.8
—
—
—
0
0
11
141
0.78
0.29
1.5
1.6
—
—
—
0
0
24
204
1.18
0.29
2.5
2.1
11.85
5.39
iu/ml
—
8
51
9
116
0.77
0.27
1.7
1.8
—
—
—
0
0
8
65
1.23
0.27
1.3
1.7
—
—
—
0
0
52
472
1.11
0.27
2.0
2.4
13.18
13.25
nmol/l
0.02
44
444
17
141
1.21
0.26
1.1
1.1
—
—
—
0
0
5
73
0.68
0.26
1.2
1.8
—
—
—
0
0
94
1002
0.93
0.26
1.5
1.6
—
—
—
0
0
14
115
1.22
0.23
1.6
1.5
—
—
—
0
0
29
256
1.14
0.23
1.4
1.4
—
—
—
0
0
97
916
1.07
0.22
1.4
1.3
23.59
30.81
iu/ml
0.52
35
284
63
678
0.92
0.22
1.6
1.5
—
—
—
0
0
7
95
0.73
0.22
3.6
3.4
5.59
7.67
pmol/l
—
7
95
92
869
1.07
0.21
2.9
3.0
0.63
0.73
ug/l
0.81
67
514
0
11
0.00
0.21
0.0
1.0
—
—
—
0
0
0
10
0.00
0.21
0.0
1.0
—
—
—
0
0
0
10
0.00
0.21
0.0
1.3
—
—
—
0
0
5
43
1.16
0.21
1.0
1.1
—
—
—
0
0
5
43
1.16
0.21
1.0
1.1
—
—
—
0
0
13
155
0.83
0.20
1.3
1.3
—
—
—
0
0
0
14
0.00
0.20
0.0
1.1
—
—
—
0
0
0
14
0.00
0.20
0.0
1.0
—
47.38
—
0
14
19
165
1.16
0.19
1.4
1.3
—
—
—
0
0
6
52
1.16
0.19
5.8
2.7
25.67
25.31
nmol/l
—
6
47
33
299
1.11
0.19
2.8
5.7
1.38
1.83
mmol/l
0.35
26
222
12
143
0.84
0.19
1.0
1.1
—
9.82
—
0
12
18
156
1.16
0.19
2.6
1.5
1.13
1.21
g/l
0.65
18
149
23
205
1.13
0.17
1.6
1.6
1093.62
961.74
mu/l
0.27
17
167
5
67
0.74
0.17
2.4
1.6
77.01
53.19
ug/l
—
5
67
5
68
0.73
0.17
1.2
1.0
—
—
—
0
0
8
70
1.14
0.16
1.1
1.2
—
—
—
0
0
11
92
1.20
0.16
1.1
1.7
—
—
—
0
0
146
1413
1.04
0.15
5.1
3.9
0.00
0.01
estimate
0.74
56
504
43
460
0.93
0.14
2.5
4.3
62.19
16.63
ug/l
0.39
34
388
21
189
1.12
0.14
1.4
1.6
—
—
—
0
0
8
96
0.83
0.14
1.1
1.9
—
—
—
0
0
13
148
0.88
0.12
1.2
1.9
—
—
—
0
0
200
1959
1.03
0.12
4.6
3.6
0.08
0.02
estimate
0.46
53
437
18
162
1.11
0.12
1.9
1.8
—
—
—
0
0
13
147
0.88
0.11
1.7
2.0
242.15
210.96
pmol/l
1.13
13
139
53
504
1.06
0.11
8.8
7.1
—
—
—
0
0
5
45
1.11
0.10
1.0
1.1
—
—
—
0
0
5
45
1.11
0.10
1.0
1.1
—
—
—
0
0
5
46
1.09
0.09
1.2
1.6
—
—
—
0
0
5
46
1.09
0.09
1.2
1.6
—
—
—
0
0
5
46
1.09
0.09
1.2
1.6
—
—
—
0
0
10
87
1.15
0.09
1.1
1.4
—
144.00
—
0
5
63
654
0.96
0.09
1.6
1.8
1.50
1.48
%
0.08
56
588
17
155
1.10
0.09
2.3
3.0
—
—
—
0
0
10
88
1.14
0.08
1.2
1.3
108.45
27.60
u/l
—
10
80
6
72
0.83
0.07
1.3
1.9
—
—
—
0
0
16
147
1.09
0.07
1.9
3.9
201.38
182.44
%
0.47
16
142
10
89
1.13
0.07
1.3
1.7
—
—
—
0
0
10
89
1.13
0.07
1.0
1.0
—
16.73
—
0
23
8
95
0.84
0.06
1.0
1.8
—
—
—
0
0
26
247
1.06
0.05
1.3
1.2
—
—
—
0
0
119
1170
1.02
0.05
4.8
3.8
1.02
1.02
kg/l
0.05
96
758
12
130
0.92
0.04
1.0
1.1
1.64
1.98
u/ml
—
7
70
220
2219
0.99
0.04
2.7
2.8
—
—
estimate
—
0
0
13
122
1.07
0.02
1.5
1.2
—
—
—
0
0
11
117
0.94
0.01
1.1
1.7
—
—
—
0
0
14
133
1.05
0.01
2.1
1.6
—
—
—
0
0
18
173
1.04
0.01
1.9
1.9
—
—
—
0
0
11
115
0.96
0.00
1.3
1.2
—
54.38
—
0
12
15
147
1.02
0.00
1.6
1.4
300.00
301.30
ug/g
—
10
98
87
867
1.00
0.00
1.4
1.3
10.67
13.02
u/ml
0.14
27
328
13
129
1.01
0.00
1.3
1.2
—
—
—
0
0
14
139
1.01
0.00
1.2
1.9
—
—
—
0
0
57
569
1.00
0.00
1.8
3.1
5.29
8.13
umol/l
1.86
51
502
0
9
0.00
0.00
0.0
1.1
—
—
—
0
0
7
78
0.90
0.00
7.6
6.9
11.34
11.31
mg/l
—
7
72
5
54
0.93
0.00
3.2
4.1
—
—
—
0
0
0
9
0.00
0.00
0.0
1.1
—
—
—
0
0
5
55
0.91
-0.00
1.0
1.2
—
—
—
0
0
8
84
0.95
-0.00
1.0
1.1
—
1.47
—
0
5
0
5
0.00
-0.00
0.0
1.6
—
—
—
0
0
17
170
1.00
-0.00
2.1
2.3
4379.97
6533.70
u/l
—
6
60
0
8
0.00
-0.00
0.0
1.4
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
8
81
0.99
-0.00
1.0
1.8
—
—
—
0
0
6
62
0.97
-0.00
1.0
1.3
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.3
—
6.13
—
0
6
0
8
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
7
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
9
96
0.94
-0.00
1.4
1.6
—
—
—
0
0
5
50
1.00
-0.00
1.0
1.1
—
—
—
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
3.4
—
0.40
—
0
5
0
8
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.8
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
7
0.00
-0.00
0.0
4.3
—
32.14
—
0
7
0
5
0.00
-0.00
0.0
1.0
—
52.40
—
0
5
6
67
0.89
-0.00
1.8
3.1
107.50
60.24
u/ml
—
6
67
5
55
0.91
-0.00
1.2
1.5
—
—
—
0
0
0
7
0.00
-0.00
0.0
5.4
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.2
—
12.10
—
0
6
0
7
0.00
-0.00
0.0
1.6
—
—
—
0
0
14
140
1.00
-0.00
1.1
1.1
—
4.86
—
0
20
8
79
1.01
-0.00
1.5
1.8
—
—
—
0
0
Mortality – FinRegistry
↥Association
Association between endpoint H7_HEREDRETINADYST and mortality.
Females
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| H7_HEREDRETINADYST | 1.142 [0.98, 1.33] | 0.085 |
| Birth year | 0.991 [0.98, 1.0] | 0.052 |
During the follow-up period (1.1.1998 — 31.12.2019), 357 out of 1932 females with H7_HEREDRETINADYST died.
Males
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| H7_HEREDRETINADYST | 1.248 [1.07, 1.45] | 0.005 |
| Birth year | 0.985 [0.97, 0.99] | 0.004 |
During the follow-up period (1.1.1998 — 31.12.2019), 308 out of 1922 males with H7_HEREDRETINADYST died.
Mortality risk
Mortality risk for people of age
years, who have H7_HEREDRETINADYST.| N-year risk | Females | Males |
|---|---|---|
| 1 | 0.082% | 0.255% |
| 5 | 0.593% | 1.276% |
| 10 | 1.471% | 3.37% |
| 15 | 2.919% | 6.343% |
| 20 | 5.228% | 10.549% |
Relationships between endpoints
↥Index endpoint: H7_HEREDRETINADYST – Hereditary retinal dystrophy
GWS hits: 13
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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