No definition available.
Endpoint definition
↥Report an error or suggest an improvement for this endpoint codes
Endpoint definition steps |
FinnGen |
|---|---|
Phenotype data |
519972 |
1. Apply sex-specific ruleNone |
519972 |
2. Check conditionsNone |
519972 |
3. Check pre-conditions, main-only, mode, registry filtersRegistry filters:
2 out of 7 registries used, show all original rules. |
555 |
4. Check minimum number of eventsNone |
555 |
5. Include endpointsNone |
555 |
6. Filter based on genotype QC (FinnGen only) |
530 |
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 | 530 | 290 | 240 |
| Unadjusted period prevalence (%) | 0.11 | 0.10 | 0.11 |
| Median age at first event (years) | 48.72 | 48.67 | 48.78 |
-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
- 555
- Matched controls
- 5550
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
H35.5
ICD-10 Finland
Hereditary retinal dystrophy
+∞
307.7
543
*
CK2X4
NOMESCO Finland
Optical coherence tomography (OCT) of ocular fundus
21.2
240.6
211
156
XCW99
NOMESCO Finland
Other investigative procedure of eye
19.1
234.5
221
186
XCK00
NOMESCO Finland
Perimetry
23.6
232.1
188
118
CS424
NOMESCO Finland
Visual field testing with Goldmann perimetry
96.6
208.1
109
14
XCD10
NOMESCO Finland
Electrophysiological examination of eye
37.9
200.4
129
44
CK2S4
NOMESCO Finland
Plain photography of ocular fundus
25.2
190.5
144
76
Z3229
NOMESCO Finland
Other healthcare associate professional
13.7
178.4
202
222
H35.30
ICD-10 Finland
Kuhnt-Junius degeneration
69.5
159.9
88
15
R5110
NOMESCO Finland
Evaluation of the need for aids, the testing, fitting and choice of the aid, instruction in use and delivery of it
8.6
125.4
211
371
XCK10
NOMESCO Finland
Photography of fundus of eye
10.6
124.1
160
204
Z31.5
ICD-10 Finland
Genetic counselling
12.2
120.6
136
144
Z01.0
ICD-10 Finland
Examination of eyes and vision
6.4
94.5
217
509
ZXA10
NOMESCO Finland
Bilateral
5.6
80.0
210
546
H26.4
ICD-10 Finland
After-cataract
8.1
77.9
118
178
H54.2
ICD-10 Finland
Moderate visual impairment, binocular
106.7
76.3
82
9
H35.39
ICD-10 Finland
Degeneration of macula and posterior pole
173.0
73.0
75
5
CK2A4
NOMESCO Finland
Autofluorescence imaging of ocular fundus
371.0
66.0
65
*
CJB10
NOMESCO Finland
Laser discission of secondary cataract
7.9
63.6
96
143
Z50.8
ICD-10 Finland
Care involving use of other rehabilitation procedures
6.4
55.2
103
191
R2120
NOMESCO Finland
Counselling and guidance concerning rehabilitation services and social security
70.3
50.3
57
9
Z96.1
ICD-10 Finland
Presence of intraocular lens
5.0
48.6
123
299
R5210
NOMESCO Finland
Assessment of the improvements needed in the living environment
178.7
47.7
49
*
CS494
NOMESCO Finland
Other visual field testing
11.9
38.4
40
36
XCD20
NOMESCO Finland
Photoangiography of eye
75.4
37.5
42
6
H35.31
ICD-10 Finland
Senile macular degeneration (atrophic)(exudative)
124.3
33.1
35
*
R1220
NOMESCO Finland
Psychological examination of need and possibilities to rehabilitation
13.6
32.5
31
24
H35.9
ICD-10 Finland
Retinal disorder, unspecified
120.5
32.0
34
*
Z3231
NOMESCO Finland
Registered nurse
2.9
31.7
216
989
R4160
NOMESCO Finland
Other therapy enhancing rehabilitation
9.8
31.2
37
40
R3120
NOMESCO Finland
Training in mobility skills
54.8
30.7
36
7
CJE20
NOMESCO Finland
Phakoemulsification with implantation of artificial lens in posterior chamber
2.9
28.9
196
887
H26.02
ICD-10 Finland
Presenil cataract
8.3
28.9
39
50
H26.2
ICD-10 Finland
Complicated cataract
26.3
26.9
37
15
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
6.5
24.9
42
69
WX140
NOMESCO Finland
Parabulbar anesthesy
9.5
24.0
29
32
74483
ICD-8 Finland
Congenital anomalies of eye, Retinitis pigmentosa
+∞
23.1
22
*
CKD05
NOMESCO Finland
Puncture of vitreous body with injection of medication
68.0
23.0
26
*
Z2446
NOMESCO Finland
Social worker
4.0
22.9
71
197
H54.0
ICD-10 Finland
Blindness, binocular
239.5
22.8
23
*
H90.3
ICD-10 Finland
Sensorineural hearing loss, bilateral
2.9
20.6
116
466
H35.8
ICD-10 Finland
Other specified retinal disorders
+∞
18.9
18
*
H53.4
ICD-10 Finland
Visual field defects
7.4
18.4
27
38
R2130
NOMESCO Finland
Counselling and guidance which enhance independent living
3.3
17.8
71
233
CK2L4
NOMESCO Finland
Wide-field/panoramic imaging of ocular fundus
38.1
17.7
22
6
H35.4
ICD-10 Finland
Peripheral retinal degeneration
185.7
17.6
18
*
Z2221
NOMESCO Finland
Medical doctor
2.3
17.6
185
993
H54.7
ICD-10 Finland
Unspecified visual loss
21.7
17.4
25
12
R5120
NOMESCO Finland
Preparation of an aid
5.2
16.6
35
71
S01EC01
ATC
acetazolamide; systemic
7.5
15.8
23
32
Z01.1
ICD-10 Finland
Examination of ears and hearing
2.5
14.4
99
436
H35.38
ICD-10 Finland
Preretinal fibrosis of the macula
28.0
14.4
19
7
H25.1
ICD-10 Finland
Senile nuclear cataract
2.2
14.1
144
755
DAX00
NOMESCO Finland
Adjustment or review of hearing aid
3.9
14.0
43
118
S01EC04
ATC
brinzolamide; ophthalmic
4.7
13.7
32
71
Z46.1
ICD-10 Finland
Fitting and adjustment of hearing aid
3.5
13.5
48
146
Z97.4
ICD-10 Finland
Presence of external hearing-aid
3.8
12.7
39
107
H53.6
ICD-10 Finland
Night blindness
+∞
12.5
12
*
3627X
ICD-9 Finland
Other retinal disorders, Hereditary retinal dystrophies[DYSTROPHIA RETINAE HEREDITARIA ALIA]
+∞
12.5
12
*
R5130
NOMESCO Finland
Repair work or maintenance done on the aid
4.1
12.2
34
87
H54.3
ICD-10 Finland
Mild or no visual impairment, binocular
47.7
11.9
14
*
H52.1
ICD-10 Finland
Myopia
4.0
11.8
34
89
H35.36
ICD-10 Finland
Macular cyst
+∞
11.5
11
*
F94
ICPC
Blindness
122.5
11.5
12
*
G71.3
ICD-10 Finland
Mitochondrial myopathy, not elsewhere classified
122.5
11.5
12
*
S01CA01
ATC
dexamethasone and antiinfectives; ophthalmic
1.9
11.1
183
1129
S01XA20
ATC
artificial tears and other indifferent preparations; ophthalmic
1.9
11.1
228
1513
37719
ICD-8 Finland
Other diseases of retina and optic nerve, Aliae degenerationes retinae
+∞
10.4
10
*
CS434
NOMESCO Finland
Visual field testing with Humphrey automated perimetry
8.4
10.4
22
27
WX100
NOMESCO Finland
Conjunctival surface anesthesia
2.5
10.4
68
291
RK320, ,
NOMESCO Finland
14.9
10.0
16
11
DFF00
NOMESCO Finland
Pure tone audiometry
2.5
10.0
66
283
DFF15
NOMESCO Finland
Speech audiometry
3.2
9.7
40
133
H35.0
ICD-10 Finland
Background retinopathy and retinal vascular changes
56.0
9.7
11
*
CK9F4
NOMESCO Finland
Fluorescein angiography (FAG) of choroid and retina
101.7
9.4
10
*
CM2X4
NOMESCO Finland
Follow-up OCT of age-related macular degeneration lesions
101.7
9.4
10
*
H54.1
ICD-10 Finland
Severe visual impairment, binocular
101.7
9.4
10
*
3626
FHL
Extracapsular cataract surgery and implantation of an artificial lens
12.6
9.4
16
13
Q14.10
ICD-10 Finland
Congenital retinoschis
+∞
9.4
9
*
3663A
ICD-9 Finland
Cataract secondary to ocular disorders
+∞
9.4
9
*
H30.9
ICD-10 Finland
Chorioretinal inflammation, unspecified
+∞
9.4
9
*
Z02.4
ICD-10 Finland
Examination for driving licence
0.4
9.3
38
953
S01EC03
ATC
dorzolamide; ophthalmic
10.9
8.8
16
15
R29.8
ICD-10 Finland
Other and unspecified symptoms and signs involving the nervous and musculoskeletal systems
2.5
8.5
53
221
H47.2
ICD-10 Finland
Optic atrophy
20.4
8.5
12
6
R5140
NOMESCO Finland
Monitoring the use of the aid
2.3
8.4
70
333
U07
ICPC
Urine symptom/complaint other
2.7
8.4
46
180
H35.7
ICD-10 Finland
Separation of retinal layers
+∞
8.4
8
*
XCH00
NOMESCO Finland
Eye pressure measurement
3.7
8.2
26
73
RK110, ,
NOMESCO Finland
10.2
8.1
15
15
H57.9
ICD-10 Finland
Disorder of eye and adnexa, unspecified
11.0
7.8
14
13
RK322, ,
NOMESCO Finland
45.6
7.7
9
*
DFF30
NOMESCO Finland
Loudness discomfort Level (LDL)
3.6
7.6
25
72
CKC12
NOMESCO Finland
Photocoagulation of retina
18.7
7.6
11
6
Z2445
NOMESCO Finland
Psychologist
2.9
7.5
36
131
H53.1
ICD-10 Finland
Subjective visual disturbances
2.6
7.4
43
173
CKD91
NOMESCO Finland
Extended vitrectomy through pars plana
81.1
7.4
8
*
H44.2
ICD-10 Finland
Degenerative myopia
81.1
7.4
8
*
H25.8
ICD-10 Finland
Other senile cataract
2.4
7.4
51
223
H40.5
ICD-10 Finland
Glaucoma secondary to other eye disorders
13.6
7.4
12
9
37710
ICD-8 Finland
Other diseases of retina and optic nerve, Degeneratio maculae luteae
+∞
7.3
7
*
37711
ICD-8 Finland
Other diseases of retina and optic nerve, Degeneratio retinae
+∞
7.3
7
*
CK2K4
NOMESCO Finland
Red-free imaging of ocular fundus
+∞
7.3
7
*
AA1AD
NOMESCO Finland
CT of head and brain
1.8
7.2
137
868
H20.1
ICD-10 Finland
Chronic iridocyclitis
20.3
7.2
10
5
ZXA00
NOMESCO Finland
Right side
1.7
7.0
139
890
S01BC03
ATC
diclofenac; ophthalmic
5.8
6.8
18
32
H53.5
ICD-10 Finland
Colour vision deficiencies
40.6
6.8
8
*
A28
ICPC
Limited function/disability NOS
1.9
6.7
85
473
L28
ICPC
Limited function/disability (L)
1.9
6.6
90
514
RK321, ,
NOMESCO Finland
70.6
6.4
7
*
H33.0
ICD-10 Finland
Retinal detachment with retinal break
70.6
6.4
7
*
RS226, ,
NOMESCO Finland
70.6
6.4
7
*
ZXA05
NOMESCO Finland
Left side
1.7
6.4
125
796
DFE00
NOMESCO Finland
Insertion of cochlear implant
18.3
6.3
9
5
CKD70
NOMESCO Finland
Excision of preretinal or epiretinal membrane
+∞
6.3
6
*
H31.2
ICD-10 Finland
Hereditary choroidal dystrophy
+∞
6.3
6
*
37002
ICD-8 Finland
Refractive errors, Myopia
27.0
6.2
8
*
S01BC05
ATC
ketorolac; ophthalmic
3.2
6.1
24
78
RS222, ,
NOMESCO Finland
6.8
6.1
14
21
F99
ICPC
Eye/adnexa disease other
10.2
6.1
11
11
XCW10
NOMESCO Finland
Assessment of vision
10.2
6.1
11
11
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
223
1645
1.59
6.44
1.9
1.9
101.13
95.15
pmol/l
0.85
112
855
133
865
1.71
6.31
2.7
2.5
4.37
6.11
e6/l
0.84
107
778
205
1515
1.56
5.72
3.5
3.1
—
—
—
0
0
70
390
1.91
5.52
6.6
4.8
1.73
1.99
mmol/l
0.27
62
325
109
707
1.67
5.15
1.6
1.7
1154.66
1192.44
nmol/l
0.13
77
537
162
1168
1.55
4.92
3.5
3.0
0.42
0.33
e6/l
0.14
124
862
442
3948
1.59
4.58
17.3
16.0
14.80
14.60
%
0.31
432
3888
452
4059
1.61
4.57
4.8
4.5
5.23
2.20
mu/l
0.44
413
3736
226
1779
1.46
4.38
4.4
4.6
35.61
36.08
g/l
0.59
212
1668
492
4541
1.74
4.15
16.8
14.9
139.51
139.68
mmol/l
0.67
480
4419
257
2088
1.43
4.13
7.1
6.8
1.22
1.21
mmol/l
0.29
222
1792
493
4558
1.73
4.06
16.8
15.0
3.96
3.97
mmol/l
0.34
478
4427
103
709
1.56
3.77
3.0
2.6
1.45
1.05
e6/l
0.40
64
395
99
676
1.57
3.75
3.2
2.8
3.01
2.56
e6/l
0.16
59
368
10
21
4.83
3.57
1.7
2.9
1248.20
791.00
u/ml
—
10
21
235
1919
1.39
3.50
6.5
6.1
1.22
1.21
mmol/l
0.93
219
1763
162
1249
1.42
3.35
2.9
2.2
373.97
274.68
u/l
0.22
156
1187
377
3351
1.39
3.22
4.2
3.8
14.65
14.69
pmol/l
0.14
340
3067
374
3332
1.38
3.07
6.6
7.2
81.76
78.42
u/l
0.43
352
3128
212
1732
1.36
3.05
2.4
2.3
81.05
75.57
nmol/l
2.02
192
1561
261
2222
1.33
2.79
4.3
6.1
12.68
11.71
umol/l
0.32
249
2122
503
4782
1.55
2.40
10.1
9.8
26.93
27.43
u/l
0.26
483
4611
72
508
1.48
2.36
7.5
6.9
103.82
103.92
mmol/l
0.05
72
508
449
4184
1.38
2.35
13.4
11.8
83.87
83.85
ml/min/173m2
0.01
359
3391
90
672
1.40
2.19
2.7
4.2
0.83
0.82
mmol/l
0.42
85
640
34
205
1.70
2.16
1.6
1.5
30.48
25.09
iu/l
0.40
29
169
66
470
1.46
2.08
4.6
7.6
1.45
1.29
mmol/l
0.14
50
376
221
1896
1.28
2.06
17.8
12.9
1.22
1.23
inr
0.04
70
571
126
1003
1.33
2.06
2.1
2.0
3.01
3.09
mg/l
0.15
107
854
160
1322
1.30
2.00
2.6
2.4
55.78
61.77
u/l
0.54
146
1228
19
98
1.97
1.97
1.3
1.7
79.36
1241.45
e6/l
0.55
14
82
19
98
1.97
1.97
1.3
1.7
3.00
7.01
e6/l
0.66
13
79
6
16
3.78
1.94
1.2
1.3
—
—
—
0
0
523
5049
1.62
1.93
21.8
19.4
135.21
136.63
g/l
1.37
514
4977
55
386
1.47
1.88
4.9
8.2
121.20
122.22
g/l
0.14
55
376
101
792
1.34
1.83
2.9
3.9
55.48
523.80
ng/l
2.63
79
607
522
5044
1.59
1.82
21.9
19.3
39.77
40.55
%
1.63
489
4742
119
956
1.31
1.82
1.6
1.5
21.62
21.19
nmol/l
0.10
104
809
169
1425
1.27
1.77
2.3
3.1
2.35
2.36
mmol/l
0.25
145
1261
280
2509
1.23
1.69
5.4
4.7
6.61
6.59
mmol/l
0.07
267
2348
145
1209
1.27
1.66
3.7
3.6
13.08
8.51
mg/mmol
0.51
95
769
427
4012
1.28
1.66
6.0
5.3
39.83
39.19
mmol/mol
0.28
393
3754
521
5045
1.53
1.64
21.7
19.3
253.78
251.06
e9/l
0.39
502
4924
133
1101
1.27
1.61
2.7
3.3
1770.35
1177.57
ng/l
0.62
110
926
83
645
1.34
1.60
1.9
3.0
29.57
29.84
s
0.19
83
625
24
144
1.70
1.60
1.4
1.2
—
—
—
0
0
521
5048
1.52
1.60
21.7
19.3
4.52
4.53
e12/l
0.28
504
4915
61
452
1.39
1.58
1.6
1.9
—
—
—
0
0
11
50
2.22
1.58
5.3
6.2
6.84
6.92
mmol/l
0.03
11
39
57
418
1.41
1.57
1.9
2.2
28.00
41.66
u/l
0.66
49
351
19
108
1.79
1.52
1.2
1.4
—
—
—
0
0
351
3241
1.23
1.52
4.1
3.9
12.14
11.21
mm/h
0.52
326
2993
11
52
2.14
1.45
1.2
1.1
—
—
—
0
0
5
17
2.96
1.36
2.0
2.1
28.60
33.24
umol/l
—
5
17
14
75
1.89
1.35
1.1
1.1
—
—
—
0
0
82
655
1.30
1.32
1.8
1.9
—
—
—
0
0
33
226
1.49
1.32
2.0
1.6
—
—
—
0
0
60
460
1.34
1.29
1.7
2.0
—
—
—
0
0
9
44
2.06
1.27
1.0
1.0
—
—
—
0
0
93
761
1.27
1.25
2.5
2.7
2.42
2.44
mmol/l
0.73
73
662
54
413
1.34
1.19
2.7
3.3
—
—
—
0
0
17
102
1.69
1.17
1.3
1.4
244.10
253.93
u/ml
—
10
57
15
87
1.74
1.16
1.1
1.4
—
—
—
0
0
15
87
1.74
1.16
1.1
1.4
—
—
—
0
0
280
2571
1.18
1.16
8.7
9.3
4.20
3.99
e9/l
0.59
239
2245
150
1304
1.21
1.15
3.2
2.9
7.97
7.99
mmol/l
0.02
128
1116
44
329
1.37
1.13
3.8
4.0
1.22
1.23
mmol/l
0.31
39
293
7
30
2.35
1.12
1.1
1.3
—
—
—
0
0
237
2152
1.18
1.11
5.7
4.5
0.00
0.00
estimate
-0.00
46
405
7
31
2.27
1.10
1.0
1.0
—
—
—
0
0
464
4464
1.24
1.10
14.5
13.3
23.07
22.80
mg/l
0.05
358
3467
239
2174
1.17
1.09
4.2
3.4
0.00
0.01
estimate
0.50
44
385
16
97
1.67
1.07
1.4
1.4
—
—
—
0
0
73
592
1.27
1.07
3.2
2.2
2.35
2.37
g/l
0.11
66
548
10
52
1.94
1.06
1.2
1.1
—
—
—
0
0
235
2140
1.17
1.05
4.2
3.4
0.00
0.00
estimate
0.50
49
428
7
34
2.07
1.03
1.0
1.1
227.71
209.34
mg/l
—
7
29
15
91
1.67
1.01
1.9
2.3
64.56
111.40
ug/min
—
9
57
15
92
1.65
0.98
3.9
4.1
18.80
30.55
mg/l
—
10
56
10
55
1.83
0.92
1.0
1.3
0.49
0.57
nmol/l
—
10
50
444
4276
1.19
0.90
4.6
4.3
5.91
5.88
mmol/l
0.21
403
3940
5
102
0.49
0.90
1.2
1.4
60.60
77.78
pmol/l
—
5
102
234
2152
1.15
0.89
6.7
6.3
29.21
28.68
%
0.29
216
2028
66
543
1.24
0.88
3.5
2.3
22.44
22.95
%
0.11
56
470
(3016894) Varicella zoster virus DNA [Presence] in Cerebral spinal fluid by NAA with probe detection
6
30
2.01
0.87
1.2
1.1
—
—
—
0
0
14
88
1.61
0.85
2.1
2.2
128.89
130.41
g/l
—
9
64
16
106
1.52
0.79
1.4
1.4
—
—
—
0
0
230
2126
1.14
0.79
6.7
6.1
56.54
56.30
%
0.10
214
2001
35
449
0.76
0.79
1.9
1.7
—
—
—
0
0
0
24
0.00
0.79
0.0
1.0
—
—
—
0
0
0
25
0.00
0.79
0.0
1.6
—
—
—
0
0
283
3004
0.88
0.77
3.0
3.1
—
—
—
0
0
434
4201
1.15
0.69
3.8
3.8
1.32
1.31
mmol/l
0.13
393
3883
106
937
1.16
0.69
1.7
2.1
0.86
1.05
mg/l
0.71
78
711
120
1071
1.15
0.68
1.3
1.3
2.91
1.71
u/ml
0.25
29
289
5
27
1.86
0.68
1.0
1.0
—
—
—
0
0
5
28
1.79
0.66
1.2
1.1
—
—
—
0
0
41
332
1.25
0.66
3.0
2.6
59.40
70.73
ml/min/173m2
0.60
12
140
450
4372
1.15
0.65
4.3
4.2
4.65
4.72
mmol/l
0.66
411
4082
20
146
1.38
0.64
3.0
1.9
—
—
—
0
0
321
3057
1.12
0.64
3.1
3.0
43.90
44.96
u/l
0.12
304
2881
43
353
1.24
0.62
7.9
7.4
9.04
8.66
mmol/l
0.16
43
334
5
30
1.67
0.61
1.0
1.3
—
—
—
0
0
0
21
0.00
0.60
0.0
1.2
—
1.07
—
0
9
8
52
1.55
0.59
1.1
1.1
—
—
—
0
0
0
22
0.00
0.59
0.0
1.6
—
—
—
0
0
0
23
0.00
0.58
0.0
1.6
—
—
—
0
0
44
526
0.82
0.58
2.2
2.0
—
—
—
0
0
37
302
1.24
0.57
1.9
1.6
—
—
—
0
0
456
4450
1.14
0.54
4.9
4.6
2.73
2.81
mmol/l
1.01
413
4128
44
371
1.20
0.51
1.8
2.3
12.77
12.72
nmol/l
0.01
35
348
20
153
1.32
0.51
1.6
1.5
0.02
0.05
iu/ml
—
7
29
92
826
1.14
0.50
1.6
1.7
505.56
16429007.69
pmol/l
0.50
71
700
114
1038
1.12
0.50
3.7
3.8
22.30
20.81
%
0.42
49
439
124
1138
1.12
0.48
1.6
1.6
1.25
1.45
mmol/l
1.95
101
976
7
47
1.50
0.47
1.3
1.7
—
—
—
0
0
93
1027
0.89
0.47
2.3
2.4
—
—
—
0
0
8
117
0.68
0.46
1.1
1.8
—
—
—
0
0
11
153
0.71
0.46
1.5
1.8
34.36
36.54
nmol/l
0.21
11
148
51
586
0.86
0.46
2.3
2.2
—
—
—
0
0
17
130
1.32
0.44
1.3
1.3
—
—
—
0
0
18
139
1.30
0.44
1.1
1.1
—
—
—
0
0
7
51
1.38
0.44
1.0
1.0
1.69
1.42
g/l
—
7
45
30
248
1.22
0.44
1.1
1.0
—
—
—
0
0
159
1487
1.10
0.43
2.7
3.2
34.42
33.04
u/l
0.17
150
1422
8
56
1.43
0.42
1.3
1.6
—
—
—
0
0
12
87
1.39
0.42
1.9
1.8
—
—
—
0
0
(3011547) Coagulation factor VII activity actual/normal in Platelet poor plasma by Coagulation assay
0
15
0.00
0.41
0.0
1.0
—
113.07
—
0
15
0
15
0.00
0.41
0.0
1.0
—
99.00
—
0
10
0
15
0.00
0.41
0.0
1.0
—
90.30
—
0
10
0
15
0.00
0.41
0.0
4.6
—
214.07
—
0
15
0
16
0.00
0.41
0.0
1.3
—
9.32
—
0
16
124
1149
1.10
0.40
4.8
3.7
0.00
0.00
estimate
0.50
44
403
(3020427) Coagulation factor X inhibitor [Units/volume] in Platelet poor plasma by Coagulation assay
15
115
1.31
0.39
1.9
7.1
0.24
0.34
u/ml
—
7
64
5
36
1.39
0.38
1.0
1.1
—
—
—
0
0
5
36
1.39
0.38
1.0
1.1
—
—
—
0
0
45
513
0.87
0.38
4.8
4.1
31.88
32.02
%
0.02
26
345
444
4353
1.10
0.38
4.4
4.1
1.45
1.46
mmol/l
0.36
403
4045
8
115
0.69
0.37
1.1
1.9
—
—
—
0
0
5
37
1.35
0.37
1.0
1.1
—
—
—
0
0
5
37
1.35
0.37
1.0
1.1
—
—
—
0
0
5
37
1.35
0.37
1.0
1.1
—
—
—
0
0
38
328
1.17
0.37
1.3
1.2
61.82
135.35
iu/ml
—
10
137
196
1862
1.08
0.37
3.2
2.7
111.49
118.11
ug/l
0.22
180
1722
35
402
0.86
0.33
2.5
4.1
11.44
17.65
ug/l
0.19
26
338
35
304
1.16
0.32
2.5
4.1
119.10
196.29
ng/l
1.80
29
275
17
137
1.25
0.32
1.1
1.1
—
—
—
0
0
17
138
1.24
0.31
2.9
2.1
—
—
—
0
0
29
250
1.17
0.30
1.4
1.4
—
—
—
0
0
167
1592
1.07
0.29
4.0
3.6
29.99
39.47
ng/l
0.66
118
1062
16
194
0.82
0.28
1.8
1.8
—
—
—
0
0
82
761
1.09
0.28
2.7
2.8
0.59
0.72
ug/l
1.41
60
459
12
150
0.80
0.27
1.3
1.4
260.24
274.31
miu/ml
—
7
73
11
139
0.79
0.27
1.0
1.1
—
9.20
—
0
13
5
71
0.70
0.26
1.2
1.7
—
—
—
0
0
9
74
1.22
0.25
1.1
1.3
39.10
28.13
u/l
—
9
67
25
287
0.86
0.25
1.4
2.0
—
—
—
0
0
10
126
0.79
0.24
1.5
1.4
—
—
—
0
0
80
747
1.08
0.24
1.4
1.3
25.70
32.50
iu/ml
0.38
28
248
137
1307
1.06
0.23
4.4
4.2
2.54
1.95
ug/l
1.07
127
1180
15
125
1.21
0.22
1.7
1.4
—
—
—
0
0
5
42
1.19
0.21
1.2
1.6
—
—
—
0
0
5
42
1.19
0.21
1.2
1.6
—
—
—
0
0
5
42
1.19
0.21
1.2
1.6
—
—
—
0
0
0
11
0.00
0.21
0.0
1.0
—
—
—
0
0
0
10
0.00
0.21
0.0
1.3
—
—
—
0
0
0
13
0.00
0.21
0.0
1.1
—
—
—
0
0
21
183
1.15
0.20
1.8
1.8
2.09
3.49
mg/l
0.82
13
138
103
979
1.06
0.20
4.6
3.7
1.01
1.02
kg/l
1.04
20
141
0
14
0.00
0.20
0.0
1.4
—
—
—
0
0
18
156
1.16
0.19
1.8
1.7
—
—
—
0
0
7
61
1.15
0.17
1.0
1.3
—
—
—
0
0
18
157
1.15
0.17
1.6
1.6
9.27
7.98
u/l
0.14
11
130
86
904
0.94
0.17
1.4
1.6
—
—
—
0
0
7
62
1.13
0.17
1.0
2.1
—
1744.00
—
0
5
26
288
0.90
0.17
1.3
1.3
109.91
295.61
u/ml
1.29
26
264
173
1680
1.04
0.16
4.6
3.4
—
—
—
0
0
16
140
1.15
0.15
1.3
1.8
—
144.00
—
0
5
7
86
0.81
0.14
1.1
1.8
—
—
—
0
0
10
84
1.19
0.14
1.3
1.6
—
—
—
0
0
8
100
0.80
0.13
1.6
1.8
—
—
—
0
0
60
631
0.94
0.13
1.5
1.5
—
—
—
0
0
9
110
0.82
0.13
1.3
1.9
254.44
202.82
pmol/l
—
9
104
11
127
0.86
0.12
1.3
1.6
—
—
—
0
0
52
493
1.06
0.12
8.9
6.8
—
—
—
0
0
10
86
1.17
0.11
1.5
1.1
—
—
—
0
0
21
229
0.91
0.11
1.4
1.9
—
—
—
0
0
5
47
1.06
0.09
1.2
1.5
—
—
—
0
0
5
61
0.82
0.08
1.2
1.9
—
—
—
0
0
5
61
0.82
0.08
1.2
1.9
—
—
—
0
0
5
64
0.78
0.08
2.4
1.5
—
—
—
0
0
14
127
1.11
0.08
1.1
1.1
—
—
—
0
0
8
75
1.07
0.07
1.5
1.7
—
—
—
0
0
12
108
1.11
0.07
1.6
1.4
—
—
—
0
0
12
108
1.11
0.07
1.6
1.4
—
—
—
0
0
12
108
1.11
0.07
1.6
1.4
—
—
—
0
0
12
108
1.11
0.07
1.6
1.4
—
—
—
0
0
7
80
0.87
0.07
2.1
3.4
59.86
56.56
%
—
7
80
7
83
0.84
0.07
1.1
1.8
—
—
—
0
0
7
83
0.84
0.07
1.1
1.8
—
—
—
0
0
8
90
0.89
0.07
1.1
1.2
—
39.45
—
0
8
12
109
1.10
0.06
3.4
1.7
—
—
—
0
0
15
161
0.93
0.05
1.4
1.6
—
—
—
0
0
18
169
1.07
0.05
1.9
1.9
—
—
—
0
0
113
1112
1.02
0.05
2.6
2.7
8151.47
6160.66
umol/l
0.13
102
975
14
130
1.08
0.04
2.5
2.9
—
—
—
0
0
200
2018
0.99
0.04
2.5
2.5
—
—
—
0
0
10
109
0.92
0.04
1.3
1.4
—
—
—
0
0
20
191
1.05
0.03
1.6
1.5
—
—
—
0
0
59
599
0.98
0.02
1.5
1.8
1.51
1.47
%
0.18
52
542
12
113
1.06
0.02
1.8
1.6
—
—
—
0
0
13
137
0.95
0.01
2.7
1.4
1.13
1.20
g/l
0.57
13
129
49
498
0.98
0.01
1.8
3.0
5.33
8.75
umol/l
1.99
42
431
25
243
1.03
0.01
1.3
1.2
—
—
—
0
0
73
737
0.99
0.01
1.4
1.3
11.84
13.17
u/ml
0.06
21
285
29
284
1.02
0.00
3.1
5.7
1.39
1.81
mmol/l
0.29
24
211
12
115
1.04
0.00
1.2
1.2
—
—
—
0
0
12
115
1.04
0.00
2.7
1.7
8.61
5.93
iu/l
—
7
32
12
115
1.04
0.00
2.0
1.6
—
—
—
0
0
15
145
1.04
0.00
2.2
2.4
4379.97
4754.15
u/l
—
6
50
13
126
1.03
0.00
1.3
1.4
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.5
—
—
—
0
0
5
59
0.85
-0.00
1.0
1.0
—
1.01
—
0
15
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
6
0.00
-0.00
0.0
4.8
—
—
—
0
0
6
60
1.00
-0.00
5.5
7.0
12.20
10.94
mg/l
—
6
54
0
5
0.00
-0.00
0.0
1.4
—
—
—
0
0
0
8
0.00
-0.00
0.0
2.1
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.0
—
—
—
0
0
6
60
1.00
-0.00
1.5
3.0
4.45
66.46
u/ml
—
6
60
5
57
0.88
-0.00
1.0
1.1
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.2
—
—
—
0
0
7
76
0.92
-0.00
1.0
1.1
—
—
—
0
0
0
6
0.00
-0.00
0.0
3.7
—
33.83
—
0
6
0
8
0.00
-0.00
0.0
1.0
—
—
—
0
0
7
74
0.95
-0.00
1.6
1.6
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
-0.00
0.0
3.4
—
0.40
—
0
5
0
9
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.0
—
24.80
—
0
9
0
5
0.00
-0.00
0.0
1.0
—
52.40
—
0
5
0
7
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.3
—
—
—
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: 14
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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