Other and unspecified spinal muscular atrophies

G6_SPINAMUSCOTH

spinal muscular atrophy: Spinal muscular atrophy is a disorder of spinal motor neurons characterized clinically by the development of muscle weakness and atrophy.

Suggest a new description

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 G12.8, G12.9, G13*
  • Hospital discharge: ICD-9 335
  • Hospital discharge: ICD-8 34829|3489
  • Hospital discharge: excluded ICD-9 3350A|3351A|3352A
  • Cause of death: ICD-10 G12.8, G12.9, G13*
  • Cause of death: ICD-9 335
  • Cause of death: ICD-8 34829|3489

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

294

4. Check minimum number of events

None

294

5. Include endpoints

None

294

6. Filter based on genotype QC (FinnGen only)

294

Control definitions (FinnGen only)

Control exclude
G6_NEUATR

Extra metadata

Level in the ICD hierarchy
3
First used in FinnGen datafreeze
DF2

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 3434 1501 1850
Only index persons 1766 795 971
Unadjusted period prevalence (%)
Whole population 0.05 0.04 0.05
Only index persons 0.03 0.03 0.04
Median age at first event (years)
Whole population 60.57 61.22 59.94
Only index persons 56.32 57.03 55.75

-FinnGen-

Key figures

All Female Male
Number of individuals 294 112 182
Unadjusted period prevalence (%) 0.06 0.04 0.08
Median age at first event (years) 59.86 55.49 62.55

-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
272
Matched controls
2720
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
G12.9
ICD-10 Finland
Spinal muscular atrophy, unspecified
+∞
143.9
125
*
G12.8
ICD-10 Finland
Other spinal muscular atrophies and related syndromes
+∞
94.4
85
*
G12.2
ICD-10 Finland
Motor neuron disease
+∞
65.3
60
*
34899
ICD-8 Finland
Motor neurone disease, Other and unspecified manifestations
+∞
26.5
25
*
G12.1
ICD-10 Finland
Other inherited spinal muscular atrophy
+∞
24.3
23
*
G62.9
ICD-10 Finland
Polyneuropathy, unspecified
13.2
23.1
41
36
N03AE01
ATC
clonazepam; systemic
8.4
22.2
51
73
R29.8
ICD-10 Finland
Other and unspecified symptoms and signs involving the nervous and musculoskeletal systems
6.2
18.9
54
105
G72.9
ICD-10 Finland
Myopathy, unspecified
35.7
18.3
23
7
TAB00
NOMESCO Finland
Lumbar puncture
9.9
17.8
36
41
N99
ICPC
Neurological disease other
17.0
14.2
22
14
N07XX02
ATC
riluzole; oral
+∞
12.6
12
*
3352A
ICD-9 Finland
Anterior horn cell disease, Motor neuron disease[SCLEROSIS LATERALIS AMYOTROPHICA]
+∞
11.5
11
*
NJ3CG
NOMESCO Finland
Extensive MRI examination of extremities with median high magnet
29.4
10.8
14
5
R1250
NOMESCO Finland
Evaluation of functional capability
12.0
10.2
18
16
N03AX12
ATC
gabapentin; oral
3.3
10.0
54
189
AA1CG
NOMESCO Finland
Extensive MRI examination of brain with high intensity magnet
4.3
9.7
36
93
L28
ICPC
Limited function/disability (L)
2.9
9.6
64
261
NJ3BG
NOMESCO Finland
MRI examination of extremities with high intensity magnet
+∞
9.4
9
*
3351X
ICD-9 Finland
Anterior horn cell disease, Spinal muscular atrophy[ATROPHIA MUSCULORUM SPINALIS NUD]
+∞
9.4
9
*
34898
ICD-8 Finland
Motor neurone disease, Alii definiti
+∞
9.4
9
*
G13.0
ICD-10 Finland
Paraneoplastic neuromyopathy and neuropathy
+∞
9.4
9
*
N28
ICPC
Limited function/disability (N)
10.1
9.4
18
19
M03BX01
ATC
baclofen; systemic
9.9
8.4
16
17
J96.1
ICD-10 Finland
Chronic respiratory failure
7.2
8.2
19
28
R47.1
ICD-10 Finland
Dysarthria and anarthria
12.2
8.2
14
12
N29
ICPC
Neurological sympt/complt other
9.4
8.2
16
18
G60.0
ICD-10 Finland
Hereditary motor and sensory neuropathy
46.3
7.8
9
*
NXL00
NOMESCO Finland
Biopsy of muscle
25.8
7.6
10
*
Z50.1
ICD-10 Finland
Other physical therapy
4.6
7.6
25
58
G71.08
ICD-10 Finland
Other muscular dystrophy
82.2
7.5
8
*
M62.5
ICD-10 Finland
Muscle wasting and atrophy, not elsewhere classified
82.2
7.5
8
*
SPAT1230
SPAT
Aid fitting and borrowing and monitoring of use
2.6
7.4
58
258
NGA20
NOMESCO Finland
Exploration of soft tissue knee or lower leg, open
+∞
7.3
7
*
SPAT1229
SPAT
Assessment of need for aid
3.2
7.1
37
128
Z03.3
ICD-10 Finland
Observation for suspected nervous system disorder
3.9
6.9
27
74
R26.8
ICD-10 Finland
Other and unspecified abnormalities of gait and mobility
7.5
6.8
15
21
R25.3
ICD-10 Finland
Fasciculation
41.1
6.8
8
*
R13
ICD-10 Finland
Dysphagia
3.5
6.4
29
90
G13.2*E03.9
ICD-10 Finland
Systemic atrophy primarily affecting central nervous system in myxoedema
+∞
6.3
6
*
G12.0
ICD-10 Finland
Infantile spinal muscular atrophy, type I [Werdnig-Hoffman]
+∞
6.3
6
*

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
(3008230) Borrelia burgdorferi IgM Ab [Units/volume] in Serum
42
147
3.17
9.64
2.4
2.4
—
4.6
—
0
6
(4027681)
12
15
8.30
8.92
1.4
1.1
—
—
—
0
0
(3035999) Lactate [Moles/volume] in Cerebral spinal fluid
10
11
9.38
8.13
1.3
1.0
mmol/l
1.9
1.8
—
10
11
(1616796) Gas panel - Central venous blood
20
47
4.49
8.07
4.1
4.2
—
—
—
0
0
(3010380) Borrelia burgdorferi IgG Ab [Units/volume] in Cerebral spinal fluid
13
24
5.62
6.83
1.2
1.0
—
—
—
0
0
(3011166) Borrelia burgdorferi Ab [Presence] in Cerebral spinal fluid
12
22
5.64
6.34
1.2
1.0
—
—
—
0
0
(3044290) Cell count panel - Cerebral spinal fluid
17
43
4.13
6.26
1.6
1.2
—
—
—
0
0
(3014973) Borrelia burgdorferi IgM Ab [Units/volume] in Cerebral spinal fluid
13
27
4.99
6.03
1.2
1.0
—
—
—
0
0
(3012320) Pathologist interpretation of Cerebral spinal fluid tests
8
6
13.65
5.10
1.1
1.2
—
—
—
0
0
(3002823) Mycoplasma pneumoniae IgG Ab [Units/volume] in Cerebral spinal fluid
7
5
14.29
4.59
1.1
1.0
—
—
—
0
0
(3037677) Mycoplasma pneumoniae IgM Ab [Titer] in Cerebral spinal fluid
7
5
14.29
4.59
1.1
1.0
—
—
—
0
0
(40767503) Oxygen content in Capillary blood by calculation
15
49
3.17
3.86
2.9
2.2
%
17.9
15.7
—
10
25
(40759883) Oligoclonal Bands IgG [Presence] in Cerebral spinal fluid by Isoelectric focusing
9
16
5.76
3.68
1.3
1.0
—
—
—
0
0
(3009343) pH of Capillary blood
33
169
2.07
3.45
4.2
3.5
ph
7.4
7.4
—
5
17
(3027545) Mycoplasma pneumoniae Ab [Presence] in Serum by Immunoassay
13
42
3.19
3.41
1.2
1.4
—
—
—
0
0
(3016018) Differential panel - Cerebral spinal fluid
9
18
5.12
3.39
1.3
1.1
—
—
—
0
0
(3001308) Cholesterol in LDL [Moles/volume] in Serum or Plasma
192
2200
0.63
3.30
4.9
5.2
mmol/l
2.7
2.7
0.75
169
2009
(3004588) Protein electrophoresis panel - Serum or Plasma
33
175
2.00
3.15
2.3
2.6
—
—
—
0
0
(3008733) Herpes simplex virus DNA [Presence] in Cerebral spinal fluid by NAA with probe detection
6
8
7.63
3.07
1.3
1.0
—
—
—
0
0
(3021901) Oxygen saturation in Capillary blood
14
51
2.83
3.03
3.4
2.3
—
—
—
0
0
(3004410) Hemoglobin A1c/Hemoglobin.total in Blood
177
2047
0.66
2.95
7.5
6.2
mmol/mol
40.1
40.7
0.37
159
1894
(21493690) Lymphocyte T-cell and B-cell and Natural killer subsets panel - Blood
7
13
5.49
2.88
3.3
2.0
—
—
—
0
0
(42868414) European tick borne encephalitis virus IgM Ab [Presence] in Serum by Immunoassay
6
9
6.78
2.88
1.3
1.2
—
—
—
0
0
(3010813) Leukocytes [#/volume] in Blood
221
2436
0.63
2.87
28.8
22.9
e9/l
6.9
6.8
0.32
215
2357
(3026361) Erythrocytes [#/volume] in Blood
221
2436
0.63
2.87
28.8
22.8
e12/l
4.4
4.5
0.26
216
2356
(3019900) Cholesterol [Moles/volume] in Serum or Plasma
189
2152
0.66
2.85
4.5
4.6
mmol/l
4.6
4.5
0.95
169
1981
(3026782) Osmolality of Urine
70
480
1.60
2.82
4.9
2.9
mosm/kgh2o
571.7
559.9
0.16
59
408
(3037522) Nuclear Ab [Titer] in Serum
44
267
1.76
2.80
1.4
1.3
titre
420.0
470.0
—
8
60
(40761849) Varicella zoster virus IgG Ab [Units/volume] in Cerebral spinal fluid by Immunoassay
5
6
8.45
2.76
1.4
1.0
—
—
—
0
0
(42868421) Varicella zoster virus IgM Ab [Presence] in Cerebral spinal fluid by Immunoassay
5
6
8.45
2.76
1.4
1.0
—
—
—
0
0
(3044212) Herpes simplex virus 1+2 IgM Ab [Presence] in Cerebral spinal fluid
5
6
8.45
2.76
1.4
1.0
—
—
—
0
0
(3023602) Cholesterol in HDL [Moles/volume] in Serum or Plasma
188
2136
0.67
2.71
4.4
4.6
mmol/l
1.5
1.4
0.37
166
1950
(3033386) Bacteria [Presence] in Cerebral spinal fluid by Light microscopy
6
10
6.10
2.71
1.3
1.1
—
—
—
0
0
(3044889) 12 lead EKG panel
129
1572
0.68
2.68
3.9
4.2
—
—
—
0
0
(3010517) Carboxyhemoglobin/Hemoglobin.total in Venous blood
22
107
2.14
2.65
2.4
3.2
%
1.1
1.2
0.23
22
107
(3009508) Creatinine [Moles/volume] in Urine
49
730
0.61
2.64
3.3
3.2
mmol/l
6.8
7.6
0.77
37
610
(3022313) Gas panel - Capillary blood
24
123
2.04
2.54
3.9
3.7
—
—
—
0
0
(3025839) Triglyceride [Moles/volume] in Serum or Plasma
39
609
0.59
2.52
1.6
1.7
mmol/l
1.3
1.3
0.35
32
511
(3028626) Oxygen [Partial pressure] in Capillary blood
16
70
2.36
2.46
3.2
3.1
kpa
8.6
8.2
0.39
16
60
(3001784) Prostate Specific Ag Free/Prostate specific Ag.total in Serum or Plasma
58
818
0.64
2.44
4.1
4.6
%
24.6
21.7
0.81
37
409
(3000850) Epithelial cells [#/volume] in Urine
70
497
1.54
2.41
4.0
2.7
e6/l
6.8
4.7
0.41
62
436
(3024354) Oxygen [Partial pressure] in Venous blood
31
178
1.83
2.37
2.6
3.7
kpa
4.4
4.4
0.07
31
170
(3030467) Casts [#/volume] in Urine by Automated count
87
650
1.48
2.35
4.9
3.3
e6/l
0.2
0.5
1.65
77
488
(3012516) Albumin [Mass/volume] in Urine
48
699
0.63
2.31
3.5
3.2
mg/l
1201.8
329.5
0.33
33
459
(3018251) Fasting glucose [Moles/volume] in Serum or Plasma
191
2142
0.69
2.30
5.1
4.8
mmol/l
5.9
6.0
1.10
173
1948
(3010521) Mycoplasma pneumoniae IgM Ab [Presence] in Serum by Immunoassay
12
47
2.62
2.30
1.2
1.1
—
—
—
0
0
(3048773) Triglyceride [Moles/volume] in Serum or Plasma --fasting
183
2064
0.70
2.24
4.2
4.1
mmol/l
1.4
1.3
0.74
163
1871
(3029287) Urinalysis microscopic panel [#/volume] - Urine by Automated count
107
842
1.43
2.18
5.3
3.4
—
—
—
0
0
(3030306) Epithelial cells.non-squamous [#/volume] in Urine by Automated count
56
391
1.53
2.07
3.7
3.0
e6/l
1.0
1.0
0.09
44
231
(3050238) Crystals [Presence] in Synovial fluid by Light microscopy
12
51
2.41
1.97
1.6
1.2
—
—
—
0
0
(3002032) Base excess in Venous blood by calculation
34
213
1.67
1.96
3.1
4.6
mmol/l
3.1
1.8
1.22
28
167
(40763086) Leukocyte esterase [Presence] in Urine by Automated test strip
107
856
1.39
1.95
5.3
3.9
—
—
—
0
0
(3006653) Thiamine [Moles/volume] in Blood
5
11
4.60
1.95
1.0
1.6
nmol/l
141.4
127.7
—
5
11
(43055089) Myosin Ab [Presence] in Serum or Plasma by Immunoblot
6
16
3.80
1.94
1.0
1.2
—
—
—
0
0
(3021447) Carbon dioxide [Partial pressure] in Venous blood
34
214
1.67
1.93
3.1
4.6
kpa
6.0
5.7
0.91
34
207
(3012544) pH of Venous blood
35
224
1.64
1.87
3.1
4.6
—
—
—
0
0
(3000208) Alpha tocopherol [Moles/volume] in Serum or Plasma
5
12
4.22
1.83
1.0
3.3
umol/l
29.4
30.0
—
5
12
(3027238) Thyroperoxidase Ab [Units/volume] in Serum or Plasma
20
109
1.90
1.82
1.1
1.2
iu/ml
63.9
129.4
—
5
44
(40764999) Glomerular filtration rate/1.73 sq M.predicted [Volume Rate/Area] in Serum, Plasma or Blood by Creatinine-based formula (CKD-EPI)
186
2062
0.73
1.75
18.7
14.6
ml/min/173m2
86.6
77.8
4.20
168
1711
(3026389) Candida sp identified in Specimen by Organism specific culture
7
24
2.96
1.73
1.3
1.3
—
—
—
0
0
(3023410) Appearance of Cerebral spinal fluid
7
25
2.84
1.66
2.0
1.2
—
—
—
0
0
(3021601) Nitrite [Presence] in Urine by Test strip
128
1076
1.34
1.65
7.1
5.0
estimate
0.0
0.0
0.00
28
220
(1761482) Bacteria [#/volume] in Urine by Culture
14
70
2.05
1.62
4.2
5.1
—
—
—
0
0
(40771025) 25-Hydroxyvitamin D3+25-Hydroxyvitamin D2 [Moles/volume] in Serum or Plasma
106
869
1.34
1.61
2.4
2.2
nmol/l
81.1
77.4
0.67
95
770
(3051552) Clostridioides difficile toxin genes [Presence] in Stool by NAA with probe detection
26
161
1.67
1.59
1.6
1.6
—
—
—
0
0
(3012220) Varicella zoster virus IgM Ab [Presence] in Serum by Immunoassay
6
20
3.04
1.59
1.0
1.1
—
—
—
0
0
(36304419) Bacteria [Presence] in Urine
79
620
1.37
1.58
4.4
3.3
—
—
—
0
0
(4034850)
15
78
1.97
1.57
10.3
11.1
—
—
—
0
0
(3009035) Cobalamin (Vitamin B12) [Moles/volume] in Serum or Plasma
67
513
1.40
1.55
1.8
1.8
pmol/l
511.5
22717065.9
0.79
59
427
(3020682) Albumin/Creatinine [Ratio] in Urine
56
735
0.71
1.55
5.1
3.9
mg/mmol
2.9
8.2
3.30
38
473
(3019230) Fractional oxyhemoglobin in Venous blood
8
33
2.46
1.55
1.4
2.6
%
58.8
58.9
—
8
33
(40769539) Bacteria identified based on 16S rRNA gene [Identifier] in Specimen by Sequencing
0
43
0.00
1.53
0.0
1.3
—
—
—
0
0
(3026008) Bacteria identified in Urine by Culture
84
669
1.36
1.53
3.6
3.0
—
—
—
0
0
(3009261) Glucose [Presence] in Urine by Test strip
129
1095
1.32
1.53
5.1
3.8
estimate
0.0
0.0
0.00
26
206
(3035637) Corticotropin [Mass/volume] in Plasma
6
21
2.89
1.51
1.8
1.4
—
—
—
0
0
(3016431) Calcium.ionized [Moles/volume] adjusted to pH 7.4 in Serum or Plasma
134
1150
1.30
1.44
8.3
7.1
mmol/l
1.2
1.2
0.15
106
962
(3011412) CD3 cells [#/volume] in Blood
6
22
2.76
1.44
3.7
1.7
e9/l
1.4
0.8
—
6
8
(46236952) Glomerular filtration rate/1.73 sq M.predicted [Volume Rate/Area] in Serum, Plasma or Blood by Creatinine-based formula (MDRD)
27
174
1.61
1.43
4.0
2.7
ml/min/173m2
99.9
61.7
0.39
13
74
(3035350) Ketones [Presence] in Urine by Test strip
126
1074
1.30
1.42
4.9
3.8
estimate
0.0
0.0
0.00
28
219
(3002109) Cholesterol in LDL/Cholesterol in HDL [Mass Ratio] in Serum or Plasma
8
162
0.48
1.40
1.8
1.8
—
—
—
0
0
(1175715) Chlamydophila pneumoniae IgM Ab [Presence] in Serum by Immunoassay
6
23
2.64
1.37
1.0
1.2
—
—
—
0
0
(3003510) Neisseria gonorrhoeae DNA [Presence] in Urine by NAA with probe detection
7
147
0.46
1.36
1.0
1.9
—
—
—
0
0
(40761511) CBC panel - Blood by Automated count
214
2296
0.75
1.35
19.4
14.5
—
—
—
0
0
(3017732) Neutrophils [#/volume] in Blood
24
153
1.62
1.33
5.5
2.7
e9/l
3.7
3.8
0.12
17
117
(3019539) Treponema pallidum Ab [Titer] in Serum by Hemagglutination
6
24
2.53
1.31
1.0
1.9
—
—
—
0
0
(3018095) Leukocytes [#/volume] in Urine
98
816
1.30
1.30
5.8
4.0
e6/l
49.8
93.2
0.83
85
595
(3019309) Folate [Moles/volume] in Red Blood Cells
60
465
1.36
1.29
1.8
1.7
nmol/l
1249.6
1202.1
0.14
53
349
(3047007) Chlamydophila sp Ab [Presence] in Serum
5
18
2.81
1.29
1.0
1.2
—
—
—
0
0
(3012202) Varicella zoster virus DNA [Presence] in Specimen by NAA with probe detection
5
18
2.81
1.29
1.4
1.3
—
—
—
0
0
(21494755) Public health laboratory ask at order entry panel
8
160
0.49
1.28
1.1
1.3
—
—
—
0
0
(3045424) Erythrocytes [Presence] in Urine
8
35
2.32
1.28
3.0
1.5
—
—
—
0
0
(706163) SARS-CoV-2 (COVID-19) RNA [Presence] in Respiratory system specimen by NAA with probe detection
107
1247
0.78
1.27
2.4
2.8
—
—
—
0
0
(3023368) Bacteria identified in Blood by Culture
83
685
1.29
1.17
4.5
4.4
—
—
—
0
0
(3049717) Cytology report of Urine Cyto stain
5
111
0.44
1.15
3.6
2.9
—
—
—
0
0
(3019150) Specific gravity of Urine by Refractometry
62
492
1.33
1.15
5.0
4.1
kg/l
1.0
1.0
0.03
14
65
(3018559) Microscopic observation [Identifier] in Buccal smear by Cyto stain
7
30
2.36
1.13
1.0
1.1
—
—
—
0
0
(3028531) Enolase.neuron specific [Mass/volume] in Serum or Plasma
7
30
2.36
1.13
2.0
1.8
ug/l
10.6
16.9
—
7
30
(3008909) Norovirus RNA [Presence] in Stool by NAA with probe detection
12
66
1.85
1.10
1.2
1.2
—
—
—
0
0
(3020891) Body temperature
15
89
1.72
1.10
5.7
4.4
—
—
—
0
0
(42529200) Cancer Ag 15-3 [Units/volume] in Serum or Plasma by Immunoassay
5
21
2.40
1.09
4.0
3.6
u/ml
28.8
63.3
—
5
21
(3016914) Bacteria identified in Cerebral spinal fluid by Culture
5
21
2.40
1.09
1.4
1.1
—
—
—
0
0
(3041096) Erythrocytes [Presence] in Urine by Automated
74
607
1.29
1.09
5.1
3.4
—
—
—
0
0
(3013603) Prostate specific Ag [Mass/volume] in Serum or Plasma
87
1024
0.79
1.09
5.3
5.3
ug/l
28.0
2.9
0.93
82
898
(3021788) Differential panel - Synovial fluid
7
32
2.22
1.09
1.4
1.3
—
—
—
0
0
(3005013) Prostate Specific Ag Free [Mass/volume] in Serum or Plasma
46
588
0.74
1.06
3.1
3.1
ug/l
0.9
0.8
0.95
32
392
(3029879) Epithelial cells.squamous [#/volume] in Urine by Automated count
48
373
1.34
1.03
4.6
3.2
e6/l
1.9
1.7
0.08
36
215
(3002582) Erythrocytes [#/volume] in Urine
85
715
1.27
1.02
5.6
3.5
e6/l
38.3
155.7
0.70
75
557
(3000330) Specific gravity of Urine by Test strip
18
115
1.60
1.02
5.3
4.2
—
—
—
0
0
(3037756) Immunofixation for Serum or Plasma
10
54
1.88
0.98
2.2
1.5
—
—
—
0
0
(3017918) Cytomegalovirus IgG Ab [Titer] in Serum or Plasma
7
36
1.97
0.97
1.3
1.4
—
—
—
0
0
(3048929) Epstein Barr virus Ab [Presence] in Serum
9
50
1.82
0.97
1.2
1.3
—
—
—
0
0
(3009542) Hematocrit [Volume Fraction] of Blood
181
1953
0.81
0.97
18.0
16.9
%
38.0
39.6
0.87
105
1341
(3002256) Pathology report gross observation
20
291
0.66
0.97
1.4
1.3
—
—
—
0
0
(40766189) Gliadin peptide IgG Ab [Units/volume] in Serum by Immunoassay
9
51
1.79
0.95
1.1
1.1
—
14.4
—
0
6
(3017181) Myelocytes/100 leukocytes in Blood
28
203
1.42
0.91
4.8
4.6
%
1.8
0.8
0.54
11
71
(3021440) Promyelocytes/100 leukocytes in Blood
26
187
1.43
0.89
4.9
4.8
%
0.4
0.1
—
10
63
(3027544) Mycobacterium sp identified in Sputum by Organism specific culture
6
31
1.95
0.85
2.8
4.5
—
—
—
0
0
(3020460) C reactive protein [Mass/volume] in Serum or Plasma
210
2219
0.81
0.84
20.5
15.7
mg/l
26.1
24.5
0.22
181
1787
(3041942) Cyclic citrullinated peptide Ab [Units/volume] in Serum
43
340
1.31
0.84
1.3
1.3
u/ml
1.0
13.9
2.31
18
134
(40766800) Mycobacterium tuberculosis stimulated gamma interferon release by CD4+ T-cells [Units/volume] corrected for background in Blood
0
25
0.00
0.79
0.0
1.1
—
—
—
0
0
(3029511) Human papilloma virus DNA [Presence] in Specimen by NAA with probe detection
8
48
1.68
0.79
1.1
1.6
—
—
—
0
0
(3051611) Lipemic interference index of Serum or Plasma
0
26
0.00
0.79
0.0
3.2
—
—
—
0
0
(3007844) Epstein Barr virus capsid IgM Ab [Units/volume] in Serum by Immunoassay
6
34
1.78
0.76
1.0
1.3
—
—
—
0
0
(3013826) Glucose [Moles/volume] in Serum or Plasma
149
1362
1.19
0.76
5.3
5.1
mmol/l
6.6
6.8
0.93
137
1270
(3018418) pH of Serum or Plasma
80
690
1.22
0.76
4.7
4.0
ph
7.4
7.4
0.27
20
133
(3017143) Hepatitis C virus Ab [Presence] in Serum
17
242
0.68
0.76
1.1
1.5
—
—
—
0
0
(3006140) Bilirubin.total [Moles/volume] in Serum or Plasma
133
1206
1.19
0.74
5.2
6.6
umol/l
11.9
11.8
0.01
125
1139
(3007853) Bacteria identified in Skin by Aerobe culture
34
265
1.32
0.74
2.6
1.8
—
—
—
0
0
(3041354) Potassium [Moles/volume] in Venous blood
7
38
1.86
0.74
2.4
3.1
mmol/l
3.9
4.1
—
7
38
(3033705) Calcium.ionized [Moles/volume] in Venous blood
7
38
1.86
0.74
2.4
3.1
—
—
—
0
0
(3035285) Chloride [Moles/volume] in Venous blood
7
38
1.86
0.74
2.4
3.1
mmol/l
108.7
105.0
—
7
38
(3045783) Sodium and Potassium panel [Moles/volume] - Serum or Plasma
21
285
0.72
0.73
8.3
7.7
—
—
—
0
0
(3032080) INR in Blood by Coagulation assay
109
973
1.19
0.72
12.9
9.7
inr
1.3
1.2
0.03
30
276
(3021589) Normoblasts [#/volume] in Blood
108
965
1.19
0.71
10.5
10.3
e9/l
0.0
0.0
0.42
98
801
(3024928) Oxygen saturation in Venous blood
7
41
1.72
0.70
1.3
4.0
—
—
—
0
0
(40760892) CBC W Ordered Manual Differential panel - Blood
57
481
1.23
0.67
6.1
5.6
—
—
—
0
0
(43534045) MCM6 gene c.-13910C>T and -13915T>G [Identifier] in Blood or Tissue by Molecular genetics method Nominal
5
95
0.52
0.67
1.0
1.0
—
—
—
0
0
(3021614) Rheumatoid factor [Units/volume] in Serum or Plasma
42
342
1.27
0.67
1.4
1.3
iu/ml
28.8
38.4
0.31
11
110
(3022806) Fractional oxyhemoglobin in Capillary blood
5
28
1.80
0.66
2.2
1.3
%
85.8
89.3
—
5
28
(3002482) Mycoplasma pneumoniae DNA [Presence] in Specimen by NAA with probe detection
7
44
1.61
0.65
1.1
1.6
—
—
—
0
0
(3023520) Reticulocytes [#/volume] in Blood
30
235
1.31
0.64
1.9
2.6
e9/l
73.0
67.6
0.40
24
189
(3044941) Cell count panel - Synovial fluid
5
29
1.74
0.64
1.8
1.2
—
—
—
0
0
(586526) SARS-CoV-2 (COVID-19) RNA [Presence] in Nasopharynx by NAA with probe detection
20
147
1.39
0.63
1.8
1.4
—
—
—
0
0
(3011371) Neisseria gonorrhoeae DNA [Presence] in Specimen by NAA with probe detection
8
49
1.65
0.62
1.1
1.8
—
—
—
0
0
(3006093) Chlamydia trachomatis DNA [Presence] in Specimen by NAA with probe detection
10
63
1.61
0.62
1.1
1.7
—
—
—
0
0
(42868716) Shigella species+EIEC invasion plasmid antigen H ipaH gene [Presence] in Stool by NAA with probe detection
5
30
1.68
0.61
1.4
1.3
—
—
—
0
0
(3000991) Gas panel - Venous blood
25
192
1.33
0.61
5.4
8.3
—
—
—
0
0
(4035726)
26
201
1.32
0.61
1.3
1.5
—
—
—
0
0
(40760888) Immunoglobulin light chains.free panel - Serum
8
51
1.58
0.61
5.8
5.0
—
—
—
0
0
(3024950) Chlamydia trachomatis DNA [Presence] in Urine by NAA with probe detection
11
162
0.67
0.60
1.3
2.0
—
—
—
0
0
(3015635) Cytomegalovirus IgM Ab [Units/volume] in Serum or Plasma
6
35
1.73
0.58
1.0
1.4
—
—
—
0
0
(3029937) Albumin [Presence] in Urine by Test strip
70
613
1.19
0.57
5.6
4.0
estimate
0.0
0.0
0.00
28
209
(3013139) Helicobacter pylori Ag [Presence] in Stool
8
122
0.65
0.56
1.3
1.2
—
—
—
0
0
(3030905) Polymorphonuclear cells [#/volume] in Blood
6
37
1.63
0.56
7.0
2.3
e9/l
4.2
5.0
—
6
37
(3026493) Urate [Moles/volume] in Serum or Plasma
70
615
1.18
0.55
3.6
2.8
umol/l
10618.7
8032.4
0.13
62
518
(3025159) Blasts/100 leukocytes in Blood
23
178
1.32
0.55
4.3
4.9
%
0.0
0.2
—
7
55
(3019284) Hepatitis B virus surface Ag [Presence] in Serum
20
259
0.76
0.54
1.3
1.5
—
—
—
0
0
(3004809) Band form neutrophils/100 leukocytes in Blood
6
39
1.55
0.53
6.3
2.9
%
0.8
1.3
—
6
29
(3032035) Polymorphonuclear cells/100 leukocytes in Blood
6
39
1.55
0.53
8.5
2.9
%
62.8
58.7
—
6
39
(46235355) HIV 1 and 2 tests - Meaningful Use set
24
302
0.78
0.53
1.3
1.7
—
—
—
0
0
(40768797) Stomach Pathology biopsy report
24
302
0.78
0.53
1.2
1.3
—
—
—
0
0
(3020059) Calcium [Moles/volume] corrected for albumin in Serum or Plasma
51
439
1.20
0.51
2.4
3.1
mmol/l
2.4
2.4
0.24
46
378
(40761535) Cells panel - Urine sediment
23
181
1.29
0.50
4.0
3.7
—
—
—
0
0
(3008486) Thyroxine (T4) free [Moles/volume] in Serum or Plasma
169
1596
1.14
0.49
4.2
3.7
pmol/l
15.1
14.8
0.91
159
1418
(3013512) EKG study
81
728
1.16
0.49
4.9
4.0
—
—
—
0
0
(3013115) Eosinophils [#/volume] in Blood
126
1168
1.14
0.49
6.9
5.9
e9/l
0.2
0.2
0.18
119
1041
(3043362) Influenza virus B Ag [Presence] in Nasopharynx by Immunoassay
7
46
1.53
0.48
1.4
1.4
—
—
—
0
0
(3046524) Influenza virus A Ag [Presence] in Nasopharynx by Immunoassay
7
46
1.53
0.48
1.4
1.4
—
—
—
0
0
(3004383) Neutrophil cytoplasmic Ab.classic [Titer] in Serum by Immunofluorescence
7
46
1.53
0.48
1.1
1.4
—
—
—
0
0
(3019902) Methicillin resistant Staphylococcus aureus [Presence] in Specimen by Organism specific culture
30
246
1.24
0.48
5.4
3.6
—
—
—
0
0
(3019832) Treponema pallidum Ab [Presence] in Serum
15
112
1.36
0.45
1.3
1.8
—
—
—
0
0
(42868674) Cholesterol in HDL/Cholesterol.total [Molar ratio] in Serum or Plasma
24
295
0.80
0.45
4.8
4.7
%
30.8
31.6
0.13
18
199
(40758558) Short blood count panel - Blood
61
541
1.16
0.44
6.8
7.2
—
—
—
0
0
(21493466) Plesiomonas shigelloides DNA [Presence] in Stool by NAA with non-probe detection
5
31
1.62
0.43
1.4
1.3
—
—
—
0
0
(3024522) Salmonella sp identified in Specimen by Organism specific culture
5
31
1.62
0.43
1.4
1.3
—
—
—
0
0
(3025468) Yersinia sp identified in Specimen by Organism specific culture
5
31
1.62
0.43
1.4
1.3
—
—
—
0
0
(3012568) Campylobacter sp identified in Specimen by Organism specific culture
5
31
1.62
0.43
1.4
1.3
—
—
—
0
0
(3016881) Enterovirus RNA [Presence] in Specimen by NAA with probe detection
5
32
1.57
0.42
1.4
1.7
—
—
—
0
0
(3005988) Vibrio sp identified in Specimen by Organism specific culture
5
32
1.57
0.42
1.4
1.3
—
—
—
0
0
(3029080) Hemoglobin [Entitic mass] in Reticulocytes
5
32
1.57
0.42
1.2
2.0
pg
35.4
34.3
—
5
32
(3002434) Lupus erythematosus deoxynucleoproteins IgG Ab [Units/volume] in Serum by Immunoassay
10
70
1.44
0.42
1.3
2.0
—
—
—
0
0
(3002173) Hemoglobin [Mass/volume] in Arterial blood
19
238
0.78
0.42
12.3
9.4
g/l
126.5
120.7
0.48
19
233
(40758895) Direct antiglobulin test.complement C3d specific reagent [Presence] on Red Blood Cells
0
15
0.00
0.41
0.0
1.8
—
—
—
0
0
(40758897) Direct antiglobulin test.IgG specific reagent [Presence] on Red Blood Cells
0
15
0.00
0.41
0.0
1.8
—
—
—
0
0
(3025018) Bordetella pertussis Ab [Titer] in Serum
0
15
0.00
0.41
0.0
1.5
—
—
—
0
0
(36305247) Microscopic observation [Identifier] in Isolate by Gram stain
8
59
1.37
0.41
1.1
1.4
—
—
—
0
0
(3024891) Influenza virus A+B Ag [Presence] in Specimen
8
59
1.37
0.41
1.3
1.2
—
—
—
0
0
(3004451) EKG impression Narrative
0
16
0.00
0.41
0.0
1.3
—
—
—
0
0
(3051651) Icteric interference index of Serum or Plasma
0
16
0.00
0.41
0.0
3.6
—
—
—
0
0
(40768441) Liver Pathology biopsy report
0
16
0.00
0.41
0.0
1.3
—
—
—
0
0
(3019601) Blood group antibody investigation [Interpretation] in Plasma or RBC
0
17
0.00
0.41
0.0
1.2
—
—
—
0
0
(3053028) Streptococcus sp identified in Specimen by Organism specific culture
0
17
0.00
0.41
0.0
1.2
—
—
—
0
0
(40762119) U1 small nuclear ribonucleoprotein 70kD Ab [Units/volume] in Serum
0
17
0.00
0.41
0.0
1.2
—
—
—
0
0
(3043747) Beta 2 globulin [Mass/volume] in Serum or Plasma by Electrophoresis
14
106
1.34
0.40
2.0
2.4
g/l
3.7
3.7
—
9
77
(3043723) Beta 1 globulin [Mass/volume] in Serum or Plasma by Electrophoresis
14
106
1.34
0.40
2.0
2.4
—
—
—
0
0
(3005229) Alpha 2 globulin [Mass/volume] in Serum or Plasma by Electrophoresis
14
106
1.34
0.40
2.0
2.4
g/l
7.7
7.4
—
9
81
(3042631) Mycobacterium sp identified in Specimen
5
35
1.44
0.39
1.0
2.7
—
—
—
0
0
(3044254) Respiratory syncytial virus RNA [Presence] in Specimen by NAA with probe detection
12
89
1.36
0.38
2.3
1.6
—
—
—
0
0
(3006588) Cancer Ag 15-3 [Units/volume] in Serum or Plasma
5
36
1.40
0.38
2.6
3.3
u/ml
82.8
35.4
—
5
36
(3000494) Fungus identified in Specimen by Culture
22
267
0.81
0.38
1.5
1.5
—
—
—
0
0
(3023150) Myeloperoxidase Ab [Units/volume] in Serum
6
42
1.44
0.35
1.2
1.6
—
—
—
0
0
(42870588) Differential panel, method unspecified - Blood
82
754
1.12
0.35
5.9
5.6
—
—
—
0
0
(43054903) Holo-transcobalamin II [Moles/volume] in Serum
101
941
1.11
0.35
2.1
2.0
pmol/l
93.9
95.0
0.07
53
496
(40761536) Microorganisms panel - Urine sediment
23
191
1.22
0.34
4.4
3.6
—
—
—
0
0
(3014162) Mycobacterium tuberculosis DNA [Presence] in Specimen by NAA with probe detection
6
87
0.68
0.33
1.2
3.3
—
—
—
0
0
(3022145) Colonoscopy Study observation
21
252
0.82
0.33
1.2
1.3
—
—
—
0
0
(46235759) Influenza virus B RNA [Presence] in Nasopharynx by NAA with probe detection
12
92
1.32
0.32
2.4
1.8
—
—
—
0
0
(37019628) Gastrointestinal bacterial pathogens panel - Stool by NAA with probe detection
7
53
1.33
0.31
1.3
1.4
—
—
—
0
0
(3033319) Streptococcus pyogenes Ag [Presence] in Throat
11
141
0.77
0.30
1.4
1.3
—
—
—
0
0
(3012110) Lysozyme [Mass/volume] in Serum or Plasma
7
56
1.26
0.29
1.9
2.1
mg/l
9.7
13.1
—
7
51
(3019800) Troponin T.cardiac [Mass/volume] in Serum or Plasma
102
959
1.10
0.29
4.0
3.9
ng/l
92.9
44.9
0.54
80
698
(3044938) Influenza virus A RNA [Presence] in Specimen by NAA with probe detection
44
395
1.13
0.28
2.2
1.9
—
—
—
0
0
(3005702) Mycobacterium sp identified in Specimen by Organism specific culture
8
62
1.30
0.28
1.0
1.3
—
—
—
0
0
(3015399) Transferrin receptor.soluble [Mass/volume] in Serum or Plasma
67
618
1.11
0.28
2.2
2.1
mg/l
3.3
3.1
0.24
56
535
(3007164) IgA [Mass/volume] in Serum or Plasma
47
425
1.13
0.27
1.4
1.4
g/l
2.6
2.6
0.10
36
253
(3003694) ABO and Rh group [Type] in Blood
50
548
0.89
0.27
1.4
1.4
—
—
—
0
0
(1002224) Polysomnography panel
5
72
0.69
0.26
1.0
1.1
—
—
—
0
0
(3020427) Coagulation factor X inhibitor [Units/volume] in Platelet poor plasma by Coagulation assay
5
73
0.68
0.26
6.0
2.5
u/ml
0.4
0.3
—
5
35
(3008898) HLA-B27 [Presence]
9
72
1.26
0.26
1.0
1.1
—
—
—
0
0
(3001604) Monocytes [#/volume] in Blood
118
1126
1.08
0.24
6.4
5.7
e9/l
0.6
0.6
0.49
110
988
(3011397) Hemoglobin [Presence] in Urine by Test strip
53
488
1.10
0.23
4.6
3.9
—
—
—
0
0
(3018677) aPTT in Platelet poor plasma by Coagulation assay
35
387
0.89
0.22
2.1
2.0
s
29.7
29.2
0.33
35
377
(3021347) Calcium.ionized [Moles/volume] in Serum or Plasma
110
1050
1.08
0.22
8.0
6.2
mmol/l
1.2
1.2
0.50
102
939
(3001079) Blood group antibody screen [Presence] in Serum or Plasma
107
1021
1.08
0.21
4.7
4.4
—
—
—
0
0
(3005156) Respiratory syncytial virus A RNA [Presence] in Specimen by NAA with probe detection
0
11
0.00
0.21
0.0
1.7
—
—
—
0
0
(3003129) Base excess in Capillary blood by calculation
0
11
0.00
0.21
0.0
1.1
—
3.8
—
0
11
(3029075) Extractable nuclear Ab panel - Serum
0
11
0.00
0.21
0.0
1.0
—
—
—
0
0
(3008364) Apolipoprotein A-I [Mass/volume] in Serum or Plasma
0
11
0.00
0.21
0.0
1.5
—
—
—
0
0
(3037875) Bordetella parapertussis DNA [Presence] in Specimen by NAA with probe detection
0
11
0.00
0.21
0.0
1.2
—
—
—
0
0
(44813793)
0
11
0.00
0.21
0.0
1.0
—
—
—
0
0
(3011831) Apolipoprotein B/Apolipoprotein A-I [Percentile]
0
11
0.00
0.21
0.0
1.5
—
—
—
0
0
(3000108) Respiratory syncytial virus B RNA [Presence] in Specimen by NAA with probe detection
0
11
0.00
0.21
0.0
1.7
—
—
—
0
0
(3026515) Parvovirus B19 IgM Ab [Units/volume] in Serum
0
10
0.00
0.21
0.0
1.2
—
—
—
0
0
(3016436) Lactate dehydrogenase [Enzymatic activity/volume] in Serum or Plasma
0
10
0.00
0.21
0.0
2.1
—
216.2
—
0
10
(42869593) Oxyhemoglobin/Hemoglobin.total [Pure mass fraction] in Capillary blood
0
10
0.00
0.21
0.0
1.2
—
—
—
0
0
(3009550) Parvovirus B19 IgG Ab [Titer] in Serum
0
10
0.00
0.21
0.0
1.2
—
—
—
0
0
(40764127) Haemophilus influenzae DNA [Presence] in Specimen by NAA with probe detection
0
10
0.00
0.21
0.0
1.2
—
—
—
0
0
(3013566) Clostridioides difficile [Presence] in Stool by Organism specific culture
0
10
0.00
0.21
0.0
1.2
—
—
—
0
0
(21493195) Respiratory pathogens DNA and RNA tested for in Respiratory system specimen by NAA with probe detection
0
12
0.00
0.21
0.0
1.7
—
—
—
0
0
(3024666) Lithium, Blood [Moles/volume] in Serum or Plasma
0
12
0.00
0.21
0.0
8.1
—
0.6
—
0
12
(3019198) Lymphocytes [#/volume] in Blood
120
1151
1.07
0.21
6.7
5.9
e9/l
1.7
2.0
1.08
111
1029
(3035320) C reactive protein [Mass/volume] in Body fluid
0
13
0.00
0.21
0.0
2.0
—
—
—
0
0
(3006315) Basophils [#/volume] in Blood
118
1132
1.07
0.20
6.5
5.7
e9/l
0.0
0.0
0.60
110
1000
(3043109) Cytology report of Tissue fine needle aspirate Cyto stain
6
48
1.26
0.20
1.2
1.3
—
—
—
0
0
(3050380) Cytology report of Cervical or vaginal smear or scraping Cyto stain
6
48
1.26
0.20
1.2
1.4
—
—
—
0
0
(3037692) Legionella sp identified in Specimen by Organism specific culture
0
14
0.00
0.20
0.0
1.3
—
—
—
0
0
(3014791) Apolipoprotein B [Mass/volume] in Serum or Plasma
0
14
0.00
0.20
0.0
1.4
—
1.1
—
0
14
(3025149) Bordetella pertussis IgA Ab [Units/volume] in Serum
0
14
0.00
0.20
0.0
1.2
—
11.2
—
0
5
(3009214) Lutropin [Units/volume] in Serum or Plasma
6
49
1.23
0.20
1.3
1.2
u/l
10.0
8.4
—
6
37
(3021879) Hepatitis B virus core Ab [Presence] in Serum
13
154
0.84
0.19
1.2
1.4
—
—
—
0
0
(3021337) Troponin I.cardiac [Mass/volume] in Serum or Plasma
42
454
0.91
0.18
3.1
3.8
ng/l
69.5
268.9
1.39
31
362
(3040853) Adenovirus DNA [Identifier] in Specimen by NAA with probe detection
7
59
1.19
0.18
1.7
1.5
—
—
—
0
0
(3042194) Human metapneumovirus RNA [Presence] in Specimen by NAA with probe detection
7
60
1.17
0.18
1.7
1.6
—
—
—
0
0
(1761868) Lipid panel - Serum or Plasma
71
749
0.93
0.17
3.5
3.1
—
—
—
0
0
(3015377) Calcium [Moles/volume] in Serum or Plasma
79
751
1.07
0.17
2.8
3.4
mmol/l
2.3
2.3
0.24
74
655
(3024403) Complement+Immunoglobulin [Units/volume] in Red Blood Cells
5
66
0.75
0.17
1.0
1.8
—
—
—
0
0
(3044640) Blood type and Crossmatch panel - Blood
74
703
1.07
0.17
2.6
2.5
—
—
—
0
0
(3009201) Thyrotropin [Units/volume] in Serum or Plasma
195
1989
0.94
0.16
5.1
4.5
mu/l
1.8
2.0
1.07
182
1784
(3021960) Folate [Moles/volume] in Serum or Plasma
62
588
1.07
0.15
1.7
1.6
nmol/l
17.9
20.4
0.86
56
495
(36660697) Celiac disease serology panel - Serum
19
170
1.13
0.14
1.1
1.1
—
—
—
0
0
(43054914) Glucose tolerance 2 hours panel - Serum or Plasma
18
201
0.89
0.14
1.7
1.6
—
—
—
0
0
(3051714) Fibrin D-dimer FEU [Mass/volume] in Platelet poor plasma
51
483
1.07
0.13
1.8
1.8
mg/l
1.9
1.5
0.19
41
384
(46236098) ABO and Rh group [Type] in Blood by Confirmatory method
50
527
0.94
0.12
2.4
2.4
—
—
—
0
0
(3013650) Neutrophils [#/volume] in Blood by Automated count
134
1308
1.04
0.12
9.2
9.5
e9/l
4.4
4.1
0.41
125
1155
(3018006) Microscopic observation [Identifier] in Cervix by Cyto stain.thin prep
27
250
1.09
0.11
1.4
1.4
—
—
—
0
0
(3022621) pH of Urine by Test strip
14
157
0.89
0.11
3.3
2.5
—
—
—
0
0
(3019225) pH of Specimen
21
229
0.91
0.11
5.0
3.9
—
—
—
0
0
(40765161) Human bocavirus DNA [Presence] in Specimen by NAA with probe detection
5
45
1.11
0.10
1.8
1.5
—
—
—
0
0
(40768443) Skin Pathology biopsy report
10
87
1.15
0.09
1.6
1.2
—
—
—
0
0
(3022096) Basophils/100 leukocytes in Blood
106
1034
1.04
0.09
7.2
5.9
%
0.6
0.6
0.25
101
971
(3037467) Urinalysis macro (dipstick) panel - Urine
155
1524
1.04
0.09
5.5
4.1
—
—
—
0
0
(40768804) Tissue Pathology biopsy report
85
873
0.96
0.08
2.3
2.1
—
—
—
0
0
(3000492) Spirometry study
21
195
1.08
0.08
1.8
1.4
—
—
—
0
0
(3045414) Leukocytes [Presence] in Urine
10
88
1.14
0.08
2.8
1.9
—
—
—
0
0
(40768800) Prostate Pathology biopsy report
7
66
1.06
0.08
1.0
1.1
—
—
—
0
0
(3052851) Hemolysis interference index of Serum or Plasma
6
71
0.84
0.07
3.7
3.3
—
—
—
0
0
(3002179) Metamyelocytes/100 leukocytes in Blood
20
186
1.08
0.07
3.5
4.5
%
3.1
0.4
—
7
51
(3025941) Bacteria identified in Stool by Culture
13
118
1.11
0.07
1.4
1.3
—
—
—
0
0
(3043924) Respiratory syncytial virus RNA [Identifier] in Specimen by NAA with probe detection
29
275
1.06
0.07
2.0
1.8
—
—
—
0
0
(3019050) Tissue transglutaminase IgA Ab [Units/volume] in Serum
47
453
1.04
0.07
1.2
1.2
u/ml
0.8
1.0
0.45
15
114
(3026910) Gamma glutamyl transferase [Enzymatic activity/volume] in Serum or Plasma
142
1441
0.97
0.06
3.2
3.2
u/l
52.5
51.3
0.04
129
1339
(3004716) Salmonella sp identified in Stool by Organism specific culture
9
104
0.86
0.06
1.6
1.3
—
—
—
0
0
(3024135) Streptococcus.beta-hemolytic [Presence] in Throat by Organism specific culture
31
296
1.05
0.06
1.2
1.4
—
—
—
0
0
(40762366) Oxygen capacity [Volume Fraction] in Arterial blood
12
131
0.91
0.05
13.8
12.5
—
—
—
0
0
(3023081) Carboxyhemoglobin/Hemoglobin.total in Blood
12
110
1.09
0.05
9.8
9.3
%
1.5
1.6
0.18
12
105
(3001122) Ferritin [Mass/volume] in Serum or Plasma
92
935
0.98
0.04
3.1
2.7
ug/l
299.4
145.6
0.94
84
855
(3019060) Gas panel - Arterial blood
18
170
1.06
0.04
10.5
7.0
—
—
—
0
0
(3003396) Base excess in Arterial blood by calculation
29
280
1.04
0.03
9.0
8.6
mmol/l
3.1
1.2
1.58
21
221
(3042936) Bacteria identified in Isolate by Culture
34
350
0.97
0.03
2.4
2.1
—
—
—
0
0
(3006504) Eosinophils/100 leukocytes in Blood
105
1062
0.98
0.03
7.4
5.9
%
2.6
2.9
0.68
100
997
(3016251) Hemoglobin.gastrointestinal [Presence] in Stool
12
127
0.94
0.01
2.4
2.4
—
—
—
0
0
(4010399)
17
164
1.04
0.00
1.4
1.4
—
—
—
0
0
(3012336) Haptoglobin [Mass/volume] in Serum or Plasma
12
122
0.98
0.00
1.3
1.8
g/l
1.8
1.5
0.53
12
110
(3005322) IgE [Units/volume] in Serum or Plasma
12
119
1.01
0.00
1.1
1.2
u/ml
821.1
172.5
0.93
12
106
(36031861) Influenza virus A and B and SARS-CoV-2 (COVID-19) and Respiratory syncytial virus RNA panel - Respiratory system specimen by NAA with probe detection
14
141
0.99
0.00
2.4
1.7
—
—
—
0
0
(3005772) Bilirubin.conjugated [Moles/volume] in Serum or Plasma
28
281
1.00
0.00
2.0
3.2
umol/l
5.1
8.7
2.31
22
251
(3013707) Erythrocyte sedimentation rate by Westergren method
168
1679
1.00
0.00
5.0
4.0
mm/h
13.5
13.2
0.09
153
1526
(3029187) Natriuretic peptide.B prohormone N-Terminal [Mass/volume] in Serum or Plasma
74
744
0.99
0.00
3.0
3.2
ng/l
1841.5
1499.0
0.23
62
634
(3038288) Influenza virus B RNA [Presence] in Specimen by NAA with probe detection
28
276
1.02
0.00
2.1
2.0
—
—
—
0
0
(3021513) Carbon dioxide [Partial pressure] in Mixed venous blood
0
5
0.00
0.00
0.0
12.2
—
—
—
0
0
(3001964) Herpes simplex virus Ag [Presence] in Specimen
0
7
0.00
0.00
0.0
1.4
—
—
—
0
0
(40760109) Toxoplasma gondii IgG Ab avidity [Ratio] in Serum by Immunoassay
0
8
0.00
0.00
0.0
1.0
—
—
—
0
0
(3006922) Hepatitis E virus Ab [Presence] in Serum
0
8
0.00
0.00
0.0
1.3
—
—
—
0
0
(3022907) Direct antiglobulin test.polyspecific reagent [Presence] on Red Blood Cells
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
(4198724)
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
(3039443) Prostate specific Ag panel - Serum or Plasma
5
53
0.94
0.00
1.4
1.5
—
—
—
0
0
(3042111) Morphology [Interpretation] in Bone marrow Narrative
5
49
1.02
0.00
1.8
1.8
—
—
—
0
0
(3014891) Appearance of Pleural fluid
0
6
0.00
0.00
0.0
1.2
—
—
—
0
0
(3052592) Norovirus Ag [Presence] in Stool
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
(3036432) Mycobacterium tuberculosis genotype [Identifier] in Isolate
0
7
0.00
0.00
0.0
5.0
—
—
—
0
0
(3044936) Clostridioides difficile toxin A+B [Presence] in Stool by Immunoassay
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
(3009876) Amylase isoenzyme 3 panel - Serum or Plasma
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
(3018993) Complement total hemolytic CH100 [Units/volume] in Serum or Plasma
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
(3035933) Granulocytes/100 leukocytes in Blood
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
(36306090) Helicobacter pylori [Presence] in Tissue by Organism specific culture
0
9
0.00
0.00
0.0
1.0
—
—
—
0
0
(44817194) Complement alternate pathway AH50 actual/normal in Serum by Immunoassay
0
5
0.00
0.00
0.0
1.0
—
98.8
—
0
5
(40763634) TCRG gene rearrangements [Presence] in Bone marrow by Molecular genetics method
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
(3018921) Toxoplasma gondii IgA Ab [Units/volume] in Serum
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
(3019497) Choriogonadotropin.beta subunit free [Moles/volume] in Serum or Plasma
0
7
0.00
0.00
0.0
1.4
—
—
—
0
0
(3003327) Ova and parasites identified in Stool by Light microscopy
6
63
0.95
0.00
1.3
1.5
—
—
—
0
0
(3034037) Hematocrit [Volume Fraction] of Mixed venous blood
0
5
0.00
0.00
0.0
12.0
—
—
—
0
0
(3002222) Hepatitis E virus IgM Ab [Presence] in Serum
0
7
0.00
0.00
0.0
1.1
—
—
—
0
0
(3035509) Tobramycin [Mass/volume] in Serum or Plasma
0
5
0.00
0.00
0.0
3.2
—
1.1
—
0
5
(44806420)
0
8
0.00
0.00
0.0
2.3
—
—
—
0
0
(3006418) Campylobacter sp identified in Tissue by Organism specific culture
6
65
0.92
0.00
1.7
1.2
—
—
—
0
0
(3028371) Actinomyces sp identified in Specimen by Organism specific culture
0
7
0.00
0.00
0.0
1.6
—
—
—
0
0
(3000285) Sodium [Moles/volume] in Blood
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
(3001684) Respiratory syncytial virus Ag [Presence] in Specimen
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
(3026048) Bordetella pertussis IgG Ab [Units/volume] in Serum
0
6
0.00
0.00
0.0
1.2
—
—
—
0
0
(40757349) CD3+CD4+ (T4 helper) cells/CD3+CD8+ (T8 suppressor cells) cells [# Ratio] in Blood
0
9
0.00
0.00
0.0
1.3
—
—
—
0
0
(3020650) Glucose [Presence] in Urine
0
8
0.00
0.00
0.0
1.1
—
—
—
0
0
(3021162) Amylase [Enzymatic activity/volume] in Specimen
0
6
0.00
0.00
0.0
2.2
—
12496.2
—
0
6
(3030313) Adrenal Ab [Titer] in Serum
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
(3029536) Hepatitis C virus RNA [Units/volume] (viral load) in Specimen by NAA with probe detection
0
6
0.00
0.00
0.0
1.5
—
—
—
0
0
(3017962) TCRG gene rearrangements [Presence] in Blood or Tissue by Molecular genetics method
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
(3046896) Herpes virus 6 DNA [Presence] in Cerebral spinal fluid by NAA with probe detection
0
9
0.00
0.00
0.0
1.1
—
—
—
0
0
(42529406) Shigella sp [Presence] in Stool by Culture
6
66
0.91
0.00
1.7
1.2
—
—
—
0
0
(40771527) Human papilloma virus E6+E7 mRNA [Presence] in Cervix by NAA with probe detection
0
6
0.00
0.00
0.0
1.7
—
—
—
0
0
(3029023) Hepatitis E virus IgG Ab [Presence] in Serum by Immunoassay
0
7
0.00
0.00
0.0
1.1
—
—
—
0
0
(3028772) Osteocalcin [Mass/volume] in Serum or Plasma
0
9
0.00
0.00
0.0
2.4
—
—
—
0
0
(4094501)
5
59
0.84
0.00
1.2
1.1
—
—
—
0
0
(3014765) Yersinia sp identified in Stool by Organism specific culture
6
65
0.92
0.00
1.7
1.2
—
—
—
0
0
(3017895) Helicobacter pylori Ab [Units/volume] in Serum
7
70
1.00
0.00
1.3
1.5
—
—
—
0
0
(3034426) Prothrombin time (PT)
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
(3028679) Herpes simplex virus Ab [Presence] in Serum
0
8
0.00
0.00
0.0
1.0
—
—
—
0
0
(3019174) dRVVT (LA screen)
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
(3038071) Oxygen [Partial pressure] in Mixed venous blood
0
5
0.00
0.00
0.0
12.0
—
—
—
0
0
(44806071)
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
(3044009) aPTT.lupus sensitive (LA screen)
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0

Mortality – FinRegistry

Association

Association between endpoint G6_SPINAMUSCOTH and mortality.

Females

Parameter HR [95% CI] p-value
G6_SPINAMUSCOTH 5.729 [4.42, 7.42] < 0.001
Birth year 0.993 [0.98, 1.0] 0.129

During the follow-up period (1.1.1998 — 31.12.2019), 309 out of 670 females with G6_SPINAMUSCOTH died.

Males

Parameter HR [95% CI] p-value
G6_SPINAMUSCOTH 3.826 [3.06, 4.79] < 0.001
Birth year 0.986 [0.98, 1.0] 0.004

During the follow-up period (1.1.1998 — 31.12.2019), 340 out of 805 males with G6_SPINAMUSCOTH died.

Mortality risk

Mortality risk for people of age

years, who have G6_SPINAMUSCOTH.

N-year risk Females Males
1 0.497% 0.723%
5 3.225% 3.906%
10 6.97% 10.02%
15 14.373% 18.355%
20 23.91% 30.396%

Relationships between endpoints

Index endpoint: G6_SPINAMUSCOTH – Other and unspecified spinal muscular atrophies

GWS hits: 9

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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