Osteochondrodysplasia with defects of growth of tubular bones and spine

Q17_OSTEOCHONDROD_W_DEFECTS_GROWTH_TUBULAR_BONES_SPINE

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 Q77
  • Cause of death: ICD-10 Q77

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

71

4. Check minimum number of events

None

71

5. Include endpoints

None

71

6. Filter based on genotype QC (FinnGen only)

71

Control definitions (FinnGen only)

Control exclude
Q17_CONGEN_MALFO_DEFORMAT_MUSCULOS_SYSTEM

Extra metadata

Level in the ICD hierarchy
3
First used in FinnGen datafreeze
DF4
Parent code in ICD-10
Q6[5-9]|Q7
Name in latin
Osteochondrodysplasia cum dysplasia ossium tubularium (longorum) et columnae vertebralis

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 792 463 328
Only index persons 647 381 266
Unadjusted period prevalence (%)
Whole population 0.01 0.01 0.01
Only index persons 0.01 0.01 0.01
Median age at first event (years)
Whole population 13.08 14.89 10.36
Only index persons 18.07 21.85 12.66

-FinnGen-

Key figures

All Female Male
Number of individuals 71 48 23
Unadjusted period prevalence (%) 0.01 0.02 0.01
Median age at first event (years) 29.61 33.81 20.86

-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

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.

Matched cohort

Matched cases
68
Matched controls
681
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
Q77.9
ICD-10 Finland
Osteochondrodysplasia with defects of growth of tubular bones and spine, unspecified
+∞
20.9
19
*
Q77.82
ICD-10 Finland
Hair-cartilage hypoplasia
+∞
16.3
15
*
Z31.5
ICD-10 Finland
Genetic counselling
14.8
15.0
26
27
Q77.88
ICD-10 Finland
Other osteochondrodysplasia with defects of growth of tubular bones and spine
+∞
14.0
13
*
Q77.5
ICD-10 Finland
Dystrophic dysplasia
+∞
12.9
12
*
Q77.4
ICD-10 Finland
Achondroplasia
+∞
12.9
12
*
75640
ICD-8 Finland
Other congenital anomalies of musculoskeletal system, Other anomalies of ribs and sternum
+∞
10.7
10
*
NA7EA
NOMESCO Finland
Scoliosis X-ray examination
102.2
8.6
9
*
7564A
ICD-9 Finland
Other congenital musculoskeletal anomalies, Chondrodystrophy
+∞
8.5
8
*
Q78.9
ICD-10 Finland
Osteochondrodysplasia, unspecified
+∞
8.5
8
*
Q77.7
ICD-10 Finland
Spondyloepiphyseal dysplasia
+∞
7.4
7
*
RK110
NOMESCO Finland
NA
44.6
6.9
8
*
NE1AA
NOMESCO Finland
Pelvis X-ray examination
11.8
6.9
12
12
Z50.8
ICD-10 Finland
Care involving use of other rehabilitation procedures
10.1
6.4
12
14
NFB60
NOMESCO Finland
Demanding prosthetic replacement of hip
+∞
6.3
6
*
M16.6
ICD-10 Finland
Other secondary coxarthrosis, bilateral
+∞
6.3
6
*
Q77.6
ICD-10 Finland
Chondroectodermal dysplasia
+∞
6.3
6
*
Q77.2
ICD-10 Finland
Short rib syndrome
+∞
6.3
6
*
M48.0
ICD-10 Finland
Spinal stenosis
14.4
6.3
10
8
NF1AA
NOMESCO Finland
Hip X-ray examination
11.7
6.3
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
unit
cases
controls
-log10(p)
N cases
N controls
(21493690) Lymphocyte T-cell and B-cell and Natural killer subsets panel - Blood
14
11
15.61
14.69
2.4
4.9
—
—
—
0
0
(3003458) Phosphate [Moles/volume] in Serum or Plasma
21
65
4.17
6.34
7.6
8.1
mmol/l
1.2
1.3
0.72
21
59
(40771025) 25-Hydroxyvitamin D3+25-Hydroxyvitamin D2 [Moles/volume] in Serum or Plasma
43
222
3.38
5.89
3.7
2.7
nmol/l
81.5
76.3
0.43
43
206
(3016431) Calcium.ionized [Moles/volume] adjusted to pH 7.4 in Serum or Plasma
43
240
3.01
4.85
10.1
6.5
mmol/l
1.2
1.2
0.38
38
214
(4062490)
8
9
9.83
4.40
1.3
1.2
—
—
—
0
0
(42870588) Differential panel, method unspecified - Blood
38
208
2.78
4.30
10.9
8.9
—
—
—
0
0
(3023368) Bacteria identified in Blood by Culture
23
101
2.89
3.88
6.6
4.6
—
—
—
0
0
(3007847) Interleukin 2 Receptor Soluble [Units/volume] in Serum or Plasma
6
5
12.92
3.83
5.8
2.6
u/ml
551.3
349.8
—
6
5
(3032080) INR in Blood by Coagulation assay
31
162
2.62
3.73
7.7
8.8
inr
1.3
1.2
—
10
46
(3021347) Calcium.ionized [Moles/volume] in Serum or Plasma
38
228
2.43
3.33
10.3
7.8
mmol/l
1.2
1.2
0.05
38
217
(3017918) Cytomegalovirus IgG Ab [Titer] in Serum or Plasma
9
21
4.75
3.11
1.3
1.8
—
—
—
0
0
(3015635) Cytomegalovirus IgM Ab [Units/volume] in Serum or Plasma
9
21
4.75
3.11
1.3
1.8
—
—
—
0
0
(3007853) Bacteria identified in Skin by Aerobe culture
17
71
2.83
3.09
1.8
1.3
—
—
—
0
0
(40758558) Short blood count panel - Blood
30
167
2.38
3.05
17.0
9.1
—
—
—
0
0
(3004588) Protein electrophoresis panel - Serum or Plasma
8
18
4.86
2.89
3.0
1.1
—
—
—
0
0
(3001079) Blood group antibody screen [Presence] in Serum or Plasma
38
242
2.23
2.75
3.9
4.0
—
—
—
0
0
(3024561) Albumin [Mass/volume] in Serum or Plasma
33
202
2.18
2.60
5.9
5.5
g/l
37.2
37.0
0.07
33
194
(3042111) Morphology [Interpretation] in Bone marrow Narrative
5
7
7.57
2.59
2.8
3.4
—
—
—
0
0
(3013650) Neutrophils [#/volume] in Blood by Automated count
50
362
2.29
2.57
16.2
11.7
e9/l
4.1
3.8
0.28
44
319
(3013115) Eosinophils [#/volume] in Blood
46
325
2.18
2.48
11.8
9.1
e9/l
0.2
0.2
0.13
40
298
(3006315) Basophils [#/volume] in Blood
45
318
2.13
2.39
9.7
8.3
e9/l
0.0
0.0
0.02
39
282
(3043924) Respiratory syncytial virus RNA [Identifier] in Specimen by NAA with probe detection
11
42
2.92
2.31
2.4
1.3
—
—
—
0
0
(3038288) Influenza virus B RNA [Presence] in Specimen by NAA with probe detection
11
42
2.92
2.31
2.3
1.5
—
—
—
0
0
(3012544) pH of Venous blood
15
68
2.53
2.30
3.3
9.6
—
—
—
0
0
(3042194) Human metapneumovirus RNA [Presence] in Specimen by NAA with probe detection
5
9
5.88
2.25
2.0
2.0
—
—
—
0
0
(3010566) Parathyrin.intact [Moles/volume] in Serum or Plasma
5
9
5.88
2.25
1.4
2.8
—
—
—
0
0
(3000991) Gas panel - Venous blood
14
63
2.52
2.18
6.1
10.4
—
—
—
0
0
(3001604) Monocytes [#/volume] in Blood
44
317
2.02
2.12
10.0
8.3
e9/l
0.5
0.5
0.24
39
281
(40762366) Oxygen capacity [Volume Fraction] in Arterial blood
7
20
3.76
2.11
16.4
15.3
—
—
—
0
0
(3007844) Epstein Barr virus capsid IgM Ab [Units/volume] in Serum by Immunoassay
8
26
3.33
2.08
1.1
1.6
—
—
—
0
0
(3000330) Specific gravity of Urine by Test strip
6
15
4.26
2.08
3.8
2.1
—
—
—
0
0
(3018095) Leukocytes [#/volume] in Urine
30
192
1.97
1.99
3.6
3.2
e6/l
19.9
40.4
0.44
23
138
(46236098) ABO and Rh group [Type] in Blood by Confirmatory method
20
110
2.14
1.99
2.6
2.5
—
—
—
0
0
(3045414) Leukocytes [Presence] in Urine
6
16
3.99
1.98
4.7
1.4
—
—
—
0
0
(3040853) Adenovirus DNA [Identifier] in Specimen by NAA with probe detection
5
11
4.80
1.97
2.0
1.9
—
—
—
0
0
(36305247) Microscopic observation [Identifier] in Isolate by Gram stain
5
11
4.80
1.97
1.4
1.4
—
—
—
0
0
(3015377) Calcium [Moles/volume] in Serum or Plasma
26
159
2.00
1.96
3.1
3.2
mmol/l
2.4
2.4
0.22
26
146
(3006217) Methemoglobin/Hemoglobin.total in Arterial blood
7
22
3.41
1.93
6.1
14.1
%
0.4
0.8
—
7
22
(3018418) pH of Serum or Plasma
23
136
2.02
1.89
7.4
3.2
ph
7.4
7.4
—
5
23
(3012110) Lysozyme [Mass/volume] in Serum or Plasma
5
12
4.39
1.85
2.8
1.5
mg/l
8.7
7.9
—
5
12
(3025130) Human papilloma virus identified in Specimen
5
12
4.39
1.85
1.0
1.8
—
—
—
0
0
(3021589) Normoblasts [#/volume] in Blood
41
297
1.90
1.85
13.5
9.6
e9/l
0.0
0.0
0.71
36
238
(3028653) Carboxyhemoglobin/Hemoglobin.total in Arterial blood
7
23
3.26
1.85
6.1
13.6
%
0.9
1.9
—
7
23
(36304419) Bacteria [Presence] in Urine
25
154
1.96
1.83
3.5
2.4
—
—
—
0
0
(3007164) IgA [Mass/volume] in Serum or Plasma
26
164
1.92
1.77
3.5
1.7
g/l
1.7
2.6
1.30
21
88
(3052851) Hemolysis interference index of Serum or Plasma
5
13
4.05
1.74
3.2
2.9
—
—
—
0
0
(3042936) Bacteria identified in Isolate by Culture
12
57
2.33
1.66
3.9
2.0
—
—
—
0
0
(3026008) Bacteria identified in Urine by Culture
23
142
1.92
1.65
3.3
2.5
—
—
—
0
0
(3004716) Salmonella sp identified in Stool by Organism specific culture
0
45
0.00
1.56
0.0
1.3
—
—
—
0
0
(3029879) Epithelial cells.squamous [#/volume] in Urine by Automated count
15
81
2.08
1.54
3.3
2.5
e6/l
5.3
3.2
—
9
48
(3014007) Fractional oxyhemoglobin in Arterial blood
6
21
3.02
1.54
7.0
14.9
%
93.7
94.2
—
6
21
(3029287) Urinalysis microscopic panel [#/volume] - Urine by Automated count
28
189
1.80
1.51
3.3
2.9
—
—
—
0
0
(3037467) Urinalysis macro (dipstick) panel - Urine
48
382
1.79
1.45
4.2
3.6
—
—
—
0
0
(3044938) Influenza virus A RNA [Presence] in Specimen by NAA with probe detection
12
61
2.16
1.43
2.3
1.6
—
—
—
0
0
(3004529) Oxygen [Partial pressure] adjusted to patient's actual temperature in Venous blood
6
23
2.75
1.40
1.3
5.4
%
63.8
57.5
—
6
23
(3019060) Gas panel - Arterial blood
6
23
2.75
1.40
13.2
4.2
—
—
—
0
0
(40761535) Cells panel - Urine sediment
0
38
0.00
1.39
0.0
4.5
—
—
—
0
0
(3044640) Blood type and Crossmatch panel - Blood
24
159
1.77
1.36
5.3
2.4
—
—
—
0
0
(3024135) Streptococcus.beta-hemolytic [Presence] in Throat by Organism specific culture
10
182
0.48
1.35
1.6
1.7
—
—
—
0
0
(3024950) Chlamydia trachomatis DNA [Presence] in Urine by NAA with probe detection
6
128
0.42
1.33
3.2
2.4
—
—
—
0
0
(3035350) Ketones [Presence] in Urine by Test strip
36
269
1.69
1.32
2.8
3.3
estimate
0.0
0.0
—
6
47
(3023520) Reticulocytes [#/volume] in Blood
8
35
2.45
1.32
3.0
5.7
e9/l
76.0
71.0
—
8
30
(3019550) Sodium [Moles/volume] in Serum or Plasma
64
570
2.24
1.26
19.4
12.1
mmol/l
138.6
139.6
2.36
64
558
(43054903) Holo-transcobalamin II [Moles/volume] in Serum
23
157
1.69
1.16
1.8
1.7
pmol/l
94.2
100.2
—
10
87
(3021337) Troponin I.cardiac [Mass/volume] in Serum or Plasma
15
91
1.82
1.11
2.9
3.2
ng/l
7.9
344.1
—
8
48
(3002256) Pathology report gross observation
11
60
1.99
1.10
1.4
1.1
—
—
—
0
0
(3030306) Epithelial cells.non-squamous [#/volume] in Urine by Automated count
15
92
1.80
1.08
3.3
2.4
e6/l
0.3
0.7
—
9
60
(3048929) Epstein Barr virus Ab [Presence] in Serum
9
47
2.05
1.07
1.1
1.6
—
—
—
0
0
(3021601) Nitrite [Presence] in Urine by Test strip
35
271
1.57
1.05
3.8
4.3
estimate
0.0
0.0
—
9
47
(3019145) Choriogonadotropin.beta subunit free [Mass/volume] in Serum or Plasma
0
29
0.00
1.00
0.0
1.6
—
—
—
0
0
(3009261) Glucose [Presence] in Urine by Test strip
35
274
1.55
0.99
2.9
3.3
estimate
0.0
0.0
—
9
43
(3003327) Ova and parasites identified in Stool by Light microscopy
6
27
2.33
0.96
1.2
1.6
—
—
—
0
0
(1002224) Polysomnography panel
6
27
2.33
0.96
1.0
1.1
—
—
—
0
0
(3003510) Neisseria gonorrhoeae DNA [Presence] in Urine by NAA with probe detection
6
114
0.48
0.93
3.2
2.3
—
—
—
0
0
(3020059) Calcium [Moles/volume] corrected for albumin in Serum or Plasma
11
64
1.85
0.92
1.6
2.9
mmol/l
2.5
2.4
0.39
11
56
(3019800) Troponin T.cardiac [Mass/volume] in Serum or Plasma
22
157
1.58
0.91
2.0
3.7
ng/l
8.6
16.8
—
8
85
(3044889) 12 lead EKG panel
44
368
1.51
0.88
2.7
2.7
—
—
—
0
0
(3016293) Bicarbonate [Moles/volume] in Serum or Plasma
8
45
1.87
0.88
8.5
11.8
mmol/l
25.4
25.5
—
8
45
(3004119) Hemoglobin [Mass/volume] in Venous blood
6
32
1.95
0.84
1.2
10.0
g/l
129.5
129.6
—
6
32
(3051552) Clostridioides difficile toxin genes [Presence] in Stool by NAA with probe detection
6
33
1.89
0.81
2.5
1.7
—
—
—
0
0
(3043238) Trisomy 21 risk [Likelihood] in Fetus
0
24
0.00
0.81
0.0
1.5
—
—
—
0
0
(3008714) Choriogonadotropin [Multiple of the median] adjusted in Serum or Plasma
0
26
0.00
0.80
0.0
1.5
—
—
—
0
0
(3049207) Fetal Trisomy 21 risk [Likelihood] Based on maternal age
0
26
0.00
0.80
0.0
1.5
—
—
—
0
0
(46235831) Pregnancy associated plasma protein A [Multiple of the median] adjusted in Serum or Plasma
0
26
0.00
0.80
0.0
1.5
—
—
—
0
0
(40763531) Fetal Nuchal fold [Multiple of the median] Thickness adjusted for maternal weight
0
26
0.00
0.80
0.0
1.5
—
—
—
0
0
(3013826) Glucose [Moles/volume] in Serum or Plasma
40
333
1.46
0.79
9.1
5.9
mmol/l
5.8
6.3
1.14
40
307
(3022145) Colonoscopy Study observation
9
55
1.73
0.77
1.3
1.5
—
—
—
0
0
(3029511) Human papilloma virus DNA [Presence] in Specimen by NAA with probe detection
5
25
2.07
0.74
2.6
1.6
—
—
—
0
0
(3022948) Iron [Moles/volume] in Serum or Plasma
11
69
1.70
0.73
2.8
2.2
umol/l
14.1
15.2
0.13
11
63
(40768797) Stomach Pathology biopsy report
10
61
1.74
0.73
1.1
1.4
—
—
—
0
0
(3027273) Bicarbonate [Moles/volume] in Venous blood
5
26
1.99
0.72
1.2
6.6
mmol/l
26.0
23.7
—
5
26
(3010521) Mycoplasma pneumoniae IgM Ab [Presence] in Serum by Immunoassay
5
26
1.99
0.72
1.0
1.1
—
—
—
0
0
(3020779) Urea [Moles/volume] in Serum or Plasma
7
43
1.70
0.69
8.4
12.2
mmol/l
7.6
5.4
—
7
43
(1761868) Lipid panel - Serum or Plasma
16
216
0.67
0.68
3.0
2.4
—
—
—
0
0
(3046870) Tissue transglutaminase IgG Ab [Units/volume] in Serum
7
44
1.65
0.67
1.1
1.2
—
—
—
0
0
(3030366) Cystatin C [Mass/volume] in Serum or Plasma
5
30
1.72
0.62
1.8
17.3
mg/l
0.8
1.1
—
5
30
(3000924) Streptococcus pyogenes [Presence] in Throat by Organism specific culture
0
21
0.00
0.61
0.0
1.5
—
—
—
0
0
(3022621) pH of Urine by Test strip
6
34
1.83
0.60
3.5
1.6
—
—
—
0
0
(3005033) Fetal Nuchal fold Thickness US
0
23
0.00
0.59
0.0
1.4
—
—
—
0
0
(3047352) Trisomy 18 risk [Likelihood] in Fetus
0
23
0.00
0.59
0.0
1.4
—
—
—
0
0
(1001926) Buprenorphine [Presence] in Urine by Screen method
6
38
1.63
0.56
1.7
1.3
—
—
—
0
0
(706163) SARS-CoV-2 (COVID-19) RNA [Presence] in Respiratory system specimen by NAA with probe detection
46
509
0.73
0.56
3.4
3.6
—
—
—
0
0
(3041096) Erythrocytes [Presence] in Urine by Automated
21
164
1.40
0.55
2.4
2.2
—
—
—
0
0
(3033319) Streptococcus pyogenes Ag [Presence] in Throat
7
110
0.60
0.53
1.1
1.7
—
—
—
0
0
(3020460) C reactive protein [Mass/volume] in Serum or Plasma
63
594
1.54
0.51
20.1
11.5
mg/l
16.8
21.4
1.00
50
435
(40760892) CBC W Ordered Manual Differential panel - Blood
18
140
1.38
0.48
5.5
5.6
—
—
—
0
0
(3025839) Triglyceride [Moles/volume] in Serum or Plasma
11
150
0.68
0.48
1.5
1.7
mmol/l
1.4
1.3
0.10
11
134
(46235759) Influenza virus B RNA [Presence] in Nasopharynx by NAA with probe detection
0
15
0.00
0.41
0.0
2.3
—
—
—
0
0
(3006418) Campylobacter sp identified in Tissue by Organism specific culture
0
16
0.00
0.41
0.0
1.3
—
—
—
0
0
(42529406) Shigella sp [Presence] in Stool by Culture
0
17
0.00
0.41
0.0
1.3
—
—
—
0
0
(3014765) Yersinia sp identified in Stool by Organism specific culture
0
17
0.00
0.41
0.0
1.3
—
—
—
0
0
(40768443) Skin Pathology biopsy report
0
17
0.00
0.41
0.0
1.1
—
—
—
0
0
(3016921) Smith extractable nuclear Ab [Units/volume] in Serum
0
18
0.00
0.40
0.0
1.5
—
4.0
—
0
6
(3019902) Methicillin resistant Staphylococcus aureus [Presence] in Specimen by Organism specific culture
5
35
1.46
0.40
2.2
3.9
—
—
—
0
0
(3006999) Ribonucleoprotein extractable nuclear Ab [Units/volume] in Serum
0
19
0.00
0.39
0.0
1.5
—
1.6
—
0
5
(3011288) Drugs identified in Urine by Screen method
5
36
1.42
0.39
1.2
1.8
—
—
—
0
0
(40768804) Tissue Pathology biopsy report
25
212
1.28
0.37
1.9
1.7
—
—
—
0
0
(3004490) Bicarbonate [Moles/volume] standard in Capillary blood
6
41
1.51
0.37
6.0
4.0
mmol/l
24.2
24.8
—
6
41
(4035726)
6
42
1.47
0.36
2.3
1.5
—
—
—
0
0
(3022313) Gas panel - Capillary blood
6
43
1.43
0.36
6.7
4.1
—
—
—
0
0
(3016879) Cocaine [Presence] in Urine
6
44
1.40
0.35
1.7
1.4
—
—
—
0
0
(3049804) Myeloperoxidase IgG Ab [Units/volume] in Serum
0
10
0.00
0.21
0.0
1.1
—
—
—
0
0
(3032773) Endomysium IgG Ab [Titer] in Serum
0
10
0.00
0.21
0.0
1.0
—
—
—
0
0
(3028300) Cannabinoids [Presence] in Urine
6
48
1.27
0.21
1.7
1.3
—
—
—
0
0
(3027008) Opiates [Presence] in Urine
6
48
1.27
0.21
1.7
1.3
—
—
—
0
0
(3027944) Amphetamines [Presence] in Urine
6
49
1.24
0.20
1.7
1.3
—
—
—
0
0
(3000764) Benzodiazepines [Presence] in Urine
6
49
1.24
0.20
1.7
1.3
—
—
—
0
0
(4306422)
0
14
0.00
0.20
0.0
1.2
—
—
—
0
0
(36032269) Testosterone Free [Moles/volume] in Serum or Plasma by calculation
0
14
0.00
0.20
0.0
1.4
—
220.1
—
0
14
(3000855) Microscopic observation [Identifier] in Vaginal fluid by Gram stain
0
14
0.00
0.20
0.0
1.4
—
—
—
0
0
(3021879) Hepatitis B virus core Ab [Presence] in Serum
6
51
1.19
0.20
1.2
1.8
—
—
—
0
0
(3013603) Prostate specific Ag [Mass/volume] in Serum or Plasma
5
67
0.73
0.18
5.0
3.7
ug/l
2.0
1.3
—
5
59
(3009542) Hematocrit [Volume Fraction] of Blood
60
582
1.20
0.15
23.3
13.0
%
39.6
40.4
0.55
49
494
(46235355) HIV 1 and 2 tests - Meaningful Use set
15
168
0.86
0.13
2.0
2.2
—
—
—
0
0
(40763086) Leukocyte esterase [Presence] in Urine by Automated test strip
24
221
1.13
0.13
2.3
3.2
—
—
—
0
0
(3018006) Microscopic observation [Identifier] in Cervix by Cyto stain.thin prep
15
134
1.15
0.12
1.9
1.4
—
—
—
0
0
(40761536) Microorganisms panel - Urine sediment
5
44
1.15
0.10
2.0
2.3
—
—
—
0
0
(3017143) Hepatitis C virus Ab [Presence] in Serum
11
98
1.14
0.08
1.5
1.7
—
—
—
0
0
(43054914) Glucose tolerance 2 hours panel - Serum or Plasma
6
72
0.82
0.08
1.3
1.9
—
—
—
0
0
(3018677) aPTT in Platelet poor plasma by Coagulation assay
8
73
1.11
0.08
3.1
6.6
s
28.6
30.9
—
8
73
(3019832) Treponema pallidum Ab [Presence] in Serum
9
99
0.90
0.07
1.4
1.9
—
—
—
0
0
(40764999) Glomerular filtration rate/1.73 sq M.predicted [Volume Rate/Area] in Serum, Plasma or Blood by Creatinine-based formula (CKD-EPI)
51
500
1.07
0.04
19.3
9.1
ml/min/173m2
105.7
92.1
3.43
42
389
(3020682) Albumin/Creatinine [Ratio] in Urine
12
112
1.09
0.03
3.0
3.7
mg/mmol
4.2
14.7
—
7
67
(3029937) Albumin [Presence] in Urine by Test strip
16
152
1.07
0.02
2.8
3.8
estimate
0.0
0.0
—
8
48
(3015736) pH of Urine
22
213
1.05
0.01
2.0
3.3
—
—
—
0
0
(3011397) Hemoglobin [Presence] in Urine by Test strip
13
124
1.06
0.01
2.8
3.9
—
—
—
0
0
(3013512) EKG study
11
113
0.97
0.00
3.0
2.7
—
—
—
0
0
(3019284) Hepatitis B virus surface Ag [Presence] in Serum
14
135
1.05
0.00
1.4
1.8
—
—
—
0
0
(3003694) ABO and Rh group [Type] in Blood
18
176
1.03
0.00
2.0
1.6
—
—
—
0
0
(40759812) SCL-70 extractable nuclear Ab [Presence] in Serum by Immunoblot
0
8
0.00
0.00
0.0
1.1
—
—
—
0
0
(40759836) Histone Ab [Presence] in Serum by Immunoblot
0
8
0.00
0.00
0.0
1.1
—
—
—
0
0
(3000494) Fungus identified in Specimen by Culture
5
57
0.87
0.00
2.4
1.3
—
—
—
0
0
(40759849) Smith extractable nuclear Ab [Presence] in Serum by Immunoblot
0
8
0.00
0.00
0.0
1.1
—
—
—
0
0
(40759844) Sjogrens syndrome-B extractable nuclear Ab [Presence] in Serum by Immunoblot
0
8
0.00
0.00
0.0
1.1
—
—
—
0
0
(40759843) Sjogrens syndrome-A extractable nuclear Ab [Presence] in Serum by Immunoblot
0
8
0.00
0.00
0.0
1.1
—
—
—
0
0
(40759842) Ribonucleoprotein extractable nuclear Ab [Presence] in Serum by Immunoblot
0
8
0.00
0.00
0.0
1.1
—
—
—
0
0
(3046294) Neutrophil cytoplasmic Ab.classic [Titer] in Serum
0
8
0.00
0.00
0.0
1.6
—
—
—
0
0
(3028271) Lactate [Moles/volume] in Capillary blood
0
8
0.00
0.00
0.0
1.8
—
1.6
—
0
8
(4094501)
0
9
0.00
0.00
0.0
1.0
—
—
—
0
0
(3035320) C reactive protein [Mass/volume] in Body fluid
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
(3002619) Bacteria identified in Specimen by Culture
0
6
0.00
0.00
0.0
1.2
—
—
—
0
0
(3051651) Icteric interference index of Serum or Plasma
0
6
0.00
0.00
0.0
1.7
—
—
—
0
0
(3012447) Hantavirus puumala IgG Ab [Titer] in Serum
0
6
0.00
0.00
0.0
1.2
—
—
—
0
0
(3016894) Varicella zoster virus DNA [Presence] in Cerebral spinal fluid by NAA with probe detection
0
5
0.00
0.00
0.0
1.4
—
—
—
0
0
(3014973) Borrelia burgdorferi IgM Ab [Units/volume] in Cerebral spinal fluid
0
7
0.00
0.00
0.0
1.3
—
—
—
0
0
(42529201) Cancer Ag 19-9 [Units/volume] in Serum or Plasma by Immunoassay
0
9
0.00
0.00
0.0
2.3
—
29.5
—
0
9
(40762119) U1 small nuclear ribonucleoprotein 70kD Ab [Units/volume] in Serum
0
6
0.00
0.00
0.0
1.3
—
—
—
0
0
(3005791) Eosinophil cationic protein (ECP) [Mass/volume] in Serum
0
5
0.00
0.00
0.0
2.2
—
14.6
—
0
5
(40766048) U1 small nuclear ribonucleoprotein 70kD Ab [Units/volume] in Serum by Immunoassay
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
(40768795) Lymph node Pathology biopsy report
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
(3027231) Wheat IgE Ab [Units/volume] in Serum
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
(3004915) Chlamydophila pneumoniae IgA Ab [Units/volume] in Serum
0
7
0.00
0.00
0.0
1.1
—
—
—
0
0
(3043405) Microscopic observation [Identifier] in Specimen by Non-gynecological cytology method
0
6
0.00
0.00
0.0
1.2
—
—
—
0
0
(36660697) Celiac disease serology panel - Serum
8
82
0.97
0.00
1.1
1.2
—
—
—
0
0
(3039443) Prostate specific Ag panel - Serum or Plasma
0
7
0.00
0.00
0.0
1.6
—
—
—
0
0
(3029075) Extractable nuclear Ab panel - Serum
0
6
0.00
0.00
0.0
1.2
—
—
—
0
0
(4027681)
0
6
0.00
0.00
0.0
1.2
—
—
—
0
0
(3015183) Erythrocyte sedimentation rate
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
(3027953) Aldolase [Enzymatic activity/volume] in Serum or Plasma
0
5
0.00
0.00
0.0
1.2
—
5.4
—
0
5
(3021513) Carbon dioxide [Partial pressure] in Mixed venous blood
0
5
0.00
0.00
0.0
6.6
—
—
—
0
0
(3020717) Zinc [Moles/volume] in Serum or Plasma
0
5
0.00
0.00
0.0
2.4
—
13.7
—
0
5
(3053028) Streptococcus sp identified in Specimen by Organism specific culture
0
7
0.00
0.00
0.0
1.1
—
—
—
0
0
(3010380) Borrelia burgdorferi IgG Ab [Units/volume] in Cerebral spinal fluid
0
7
0.00
0.00
0.0
1.3
—
—
—
0
0
(3038071) Oxygen [Partial pressure] in Mixed venous blood
0
5
0.00
0.00
0.0
6.6
—
—
—
0
0
(3000492) Spirometry study
6
66
0.90
0.00
2.3
1.3
—
—
—
0
0
(3022806) Fractional oxyhemoglobin in Capillary blood
0
7
0.00
0.00
0.0
1.4
—
92.4
—
0
7
(3008832) Norclozapine [Moles/volume] in Serum or Plasma
0
6
0.00
0.00
0.0
8.3
—
655.0
—
0
6
(3000081) cloZAPine [Moles/volume] in Serum or Plasma
0
6
0.00
0.00
0.0
19.3
—
1041.3
—
0
6
(3042299) inFLIXimab [Mass/volume] in Serum or Plasma
0
5
0.00
0.00
0.0
12.0
—
7.8
—
0
5
(3035933) Granulocytes/100 leukocytes in Blood
0
6
0.00
0.00
0.0
1.2
—
—
—
0
0
(3042206) Streptococcus agalactiae Ag [Presence] in Vaginal fluid
0
7
0.00
0.00
0.0
1.1
—
—
—
0
0
(3004616) Nuclear Ab [Presence] in Serum
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0

Mortality – FinRegistry

Association

Association between endpoint Q17_OSTEOCHONDROD_W_DEFECTS_GROWTH_TUBULAR_BONES_SPINE and mortality.

Females

No data

Males

No data

Mortality risk

Mortality risk for people of age

years, who have Q17_OSTEOCHONDROD_W_DEFECTS_GROWTH_TUBULAR_BONES_SPINE.

N-year risk Females Males
1 No data No data
5 No data No data
10 No data No data
15 No data No data
20 No data No data

Relationships between endpoints

Index endpoint: Q17_OSTEOCHONDROD_W_DEFECTS_GROWTH_TUBULAR_BONES_SPINE – Osteochondrodysplasia with defects of growth of tubular bones and spine

GWS hits: 2

Endpoint
Case Overlap
Survival Analysis
Genetic Correlations
Genetic Signals
N (Jaccard index)
HR [CI]
Extremity
rg [CI]
Extremity
Hits
Coloc Hits
FinRegistry
FinnGen
FinRegistry
FinnGen
FinnGen
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