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

↥

Report an error or suggest an improvement for this endpoint codes

Endpoint definition steps	FinnGen
Phenotype data	557745
1. Apply sex-specific rule None	557745
2. Check conditions None	557745
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.	347
4. Check minimum number of events None	347
5. Include endpoints None	347
6. Filter based on genotype QC (FinnGen only)	311

Control definitions (FinnGen only)

Control exclude: G6_NEUATR

Extra metadata

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

NAME	G6_SPINAMUSCOTH
CONTROL_EXCLUDE	G6_NEUATR
CONTROL_PRECONDITIONS
CONTROL_CONDITIONS
SEX
INCLUDE
PRE_CONDITIONS
CONDITIONS
OUTPAT_ICD
OUTPAT_OPER
HD_MAINONLY
HD_ICD_10_ATC
HD_ICD_10	G12[8-9]\|G13
HD_ICD_9	335
HD_ICD_8	34829\|3489
HD_ICD_10_EXCL
HD_ICD_9_EXCL	3350A\|3351A\|3352A
HD_ICD_8_EXCL
COD_MAINONLY
COD_ICD_10	G12[8-9]\|G13
COD_ICD_9	335
COD_ICD_8	34829\|3489
COD_ICD_10_EXCL
COD_ICD_9_EXCL
COD_ICD_8_EXCL
OPER_NOM
OPER_HL
OPER_HP1
OPER_HP2
KELA_REIMB
KELA_REIMB_ICD
KELA_ATC_NEEDOTHER
KELA_ATC
KELA_VNRO_NEEDOTHER
KELA_VNRO
CANC_TOPO
CANC_TOPO_EXCL
CANC_MORPH
CANC_MORPH_EXCL
CANC_BEHAV

Similar endpoints

↥

List of similar endpoints to Other and unspecified spinal muscular atrophies based on the number of shared cases.

Similar with more cases:

Similar with less cases:

None

Case counts by codes

↥

FinnGen case counts by registry codes:

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	311	119	192
Unadjusted period prevalence (%)	0.07	0.04	0.09
Median age at first event (years)	60.04	55.49	62.86

-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

↥

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
316: Matched controls
3160

Code

Vocabulary

Description

Odds Ratio

-log₁₀(p)

N matched cases

N matched controls

G12.9

ICD-10 Finland

Spinal muscular atrophy, unspecified

+∞

170.8

148

G12.8

ICD-10 Finland

Other spinal muscular atrophies and related syndromes

+∞

112.4

101

G12.2

ICD-10 Finland

Motor neuron disease

+∞

80.8

G62.9

ICD-10 Finland

Polyneuropathy, unspecified

11.1

45.5

N03AE01

ATC

clonazepam; systemic

9.0

42.7

R29.8

ICD-10 Finland

Other and unspecified symptoms and signs involving the nervous and musculoskeletal systems

6.3

36.1

140

N99

ICPC

Neurological disease other

50.6

30.3

34899

ICD-8 Finland

Motor neurone disease, Other and unspecified manifestations

+∞

29.6

G12.1

ICD-10 Finland

Other inherited spinal muscular atrophy

+∞

29.6

TAB00

NOMESCO Finland

Lumbar puncture

6.3

22.7

J96.1

ICD-10 Finland

Chronic respiratory failure

8.1

19.4

G72.9

ICD-10 Finland

Myopathy, unspecified

21.7

18.1

N07XX02

ATC

riluzole; oral

+∞

17.9

L28

ICPC

Limited function/disability (L)

3.1

16.9

385

N28

ICPC

Limited function/disability (N)

13.2

16.2

SPAT1229

SPAT

Assessment of need for aid

4.3

15.6

115

R1250

NOMESCO Finland

Evaluation of functional capability

6.8

14.3

M03BX01

ATC

baclofen; systemic

11.2

12.5

Z31.5

ICD-10 Finland

Genetic counselling

4.6

12.2

NJ3CG

NOMESCO Finland

Extensive MRI examination of extremities with median high magnet

28.0

12.2

G62.8

ICD-10 Finland

Other specified polyneuropathies

17.3

11.8

3351X

ICD-9 Finland

Anterior horn cell disease, Spinal muscular atrophy[ATROPHIA MUSCULORUM SPINALIS NUD]

+∞

11.5

G13.0

ICD-10 Finland

Paraneoplastic neuromyopathy and neuropathy

+∞

11.5

3352A

ICD-9 Finland

Anterior horn cell disease, Motor neuron disease[SCLEROSIS LATERALIS AMYOTROPHICA]

+∞

11.5

G60.0

ICD-10 Finland

Hereditary motor and sensory neuropathy

45.0

11.0

Z03.3

ICD-10 Finland

Observation for suspected nervous system disorder

3.8

10.8

34898

ICD-8 Finland

Motor neurone disease, Alii definiti

+∞

10.5

Z50.9

ICD-10 Finland

Care involving use of rehabilitation procedure, unspecified

4.7

10.5

R4130

NOMESCO Finland

Speech therapy

5.2

9.9

AA1CG

NOMESCO Finland

Extensive MRI examination of brain with high intensity magnet

3.2

9.8

145

R26.8

ICD-10 Finland

Other and unspecified abnormalities of gait and mobility

7.5

9.7

NXL00

NOMESCO Finland

Biopsy of muscle

31.1

9.5

NJ3BG

NOMESCO Finland

MRI examination of extremities with high intensity magnet

31.1

9.5

R47.1

ICD-10 Finland

Dysarthria and anarthria

10.5

9.1

NA1BG

NOMESCO Finland

Cervical spine MRI examination with high intensity magnet

3.9

8.6

R13

ICD-10 Finland

Dysphagia

3.1

8.5

135

G13.2*E03.9

ICD-10 Finland

Systemic atrophy primarily affecting central nervous system in myxoedema

+∞

8.4

N29

ICPC

Neurological sympt/complt other

8.1

8.0

N02AE01

ATC

buprenorphine; parenteral, sublingual, transdermal

2.5

7.9

260

Z50.8

ICD-10 Finland

Care involving use of other rehabilitation procedures

2.9

7.8

136

Z50.1

ICD-10 Finland

Other physical therapy

3.5

7.6

G71.08

ICD-10 Finland

Other muscular dystrophy

81.9

7.4

M62.5

ICD-10 Finland

Muscle wasting and atrophy, not elsewhere classified

30.8

7.2

TAW99

NOMESCO Finland

Other minor neurosurgical procedure

41.0

6.8

R5110

NOMESCO Finland

Evaluation of the need for aids, the testing, fitting and choice of the aid, instruction in use and delivery of it

2.4

6.8

223

SPAT1230

SPAT

Aid fitting and borrowing and monitoring of use

2.2

6.7

327

504

Kela drug reimbursment

Conditions requiring daily forced enteral nutrition

7.1

6.6

JDB10

NOMESCO Finland

Percutaneous gastrostomy

8.4

6.4

33098

ICD-8 Finland

Hereditary neuromuscular disorders, Alii definiti

+∞

6.3

G12.0

ICD-10 Finland

Infantile spinal muscular atrophy, type I [Werdnig-Hoffman]

+∞

6.3

M54.1

ICD-10 Finland

Radiculopathy

3.7

6.3

N03AX12

ATC

[U] gabapentin; oral

2.2

6.2

316

R5110, ,

SPAT

2.6

6.0

143

LabWAS

↥

N Cases

N Controls

-log₁₀(p)

cases

controls

cases

controls

unit

-log₁₀(p)

N cases

N controls

(3044290) Cell count panel - Cerebral spinal fluid

5.24

11.89

1.4

1.2

—

(1616796) Gas panel - Central venous blood

4.64

9.98

4.6

4.1

—

(3011166) Borrelia burgdorferi Ab [Presence] in Cerebral spinal fluid

9.02

8.92

1.2

1.0

—

(3014973) Borrelia burgdorferi IgM Ab [Units/volume] in Cerebral spinal fluid

7.15

8.20

1.2

1.0

—

(40759883) Oligoclonal Bands IgG [Presence] in Cerebral spinal fluid by Isoelectric focusing

9.20

7.63

1.3

1.0

—

(3012320) Pathologist interpretation of Cerebral spinal fluid tests

17.15

6.78

1.1

1.2

—

(3009991) Angiotensin converting enzyme [Enzymatic activity/volume] in Cerebral spinal fluid

8.27

5.89

1.2

1.1

1.12

1.02

u/l

—

(3004588) Protein electrophoresis panel - Serum or Plasma

216

2.20

5.08

2.3

2.9

—

(3030862) Granulocytes [#/volume] in Cerebral spinal fluid

14.27

4.59

1.0

1.2

—

(3025839) Triglyceride [Moles/volume] in Serum or Plasma

1060

0.55

4.53

1.9

2.0

1.42

1.31

mmol/l

0.40

884

(3033306) Mononuclear cells/Leukocytes in Cerebral spinal fluid

9.08

4.30

1.0

1.2

—

(42868414) European tick borne encephalitis virus IgM Ab [Presence] in Serum by Immunoassay

8.17

4.08

1.3

1.2

—

(3002823) Mycoplasma pneumoniae IgG Ab [Units/volume] in Cerebral spinal fluid

8.91

3.79

1.1

1.0

—

(3037677) Mycoplasma pneumoniae IgM Ab [Titer] in Cerebral spinal fluid

8.91

3.79

1.1

1.0

—

(3016018) Differential panel - Cerebral spinal fluid

4.71

3.78

1.4

1.0

—

(3033386) Bacteria [Presence] in Cerebral spinal fluid by Light microscopy

7.13

3.38

1.3

1.1

—

(3037522) Nuclear Ab [Titer] in Serum

341

1.74

3.23

1.4

1.3

420.00

484.10

titre

—

(3001308) Cholesterol in LDL [Moles/volume] in Serum or Plasma

218

2453

0.64

3.17

5.6

6.2

2.68

2.59

mmol/l

0.77

194

2268

(3012095) Magnesium [Moles/volume] in Serum or Plasma

474

1.64

3.17

2.9

3.6

0.82

0.83

mmol/l

0.18

450

(3027273) Bicarbonate [Moles/volume] in Venous blood

140

2.10

3.11

3.6

3.7

25.51

24.60

mmol/l

0.65

135

(3024354) Oxygen [Partial pressure] in Venous blood

254

1.80

2.97

4.0

3.5

4.48

4.31

kpa

0.28

245

(3019900) Cholesterol [Moles/volume] in Serum or Plasma

215

2416

0.66

2.95

5.0

5.4

4.58

4.47

mmol/l

0.83

194

2242

(3010813) Leukocytes [#/volume] in Blood

243

2660

0.63

2.93

34.2

26.9

6.91

6.86

e9/l

0.10

238

2598

(21493690) Lymphocyte T-cell and B-cell and Natural killer subsets panel - Blood

5.48

2.88

3.3

2.2

—

(3023602) Cholesterol in HDL [Moles/volume] in Serum or Plasma

214

2400

0.66

2.80

4.9

5.3

1.46

1.43

mmol/l

0.44

192

2212

(3009508) Creatinine [Moles/volume] in Urine

963

0.64

2.77

3.8

3.4

7.15

7.69

mmol/l

0.48

815

(3012516) Albumin [Mass/volume] in Urine

929

0.63

2.75

3.7

3.4

22.74

61.84

mg/l

2.94

614

(3018251) Fasting glucose [Moles/volume] in Serum or Plasma

214

2397

0.67

2.74

5.6

5.4

5.91

6.04

mmol/l

1.21

196

2201

(3008733) Herpes simplex virus DNA [Presence] in Cerebral spinal fluid by NAA with probe detection

6.09

2.71

1.3

1.0

—

(3027545) Mycoplasma pneumoniae Ab [Presence] in Serum by Immunoassay

2.57

2.56

1.1

1.4

—

(3024561) Albumin [Mass/volume] in Serum or Plasma

149

1212

1.43

2.56

4.8

5.4

35.49

35.20

g/l

0.25

144

1147

(3026389) Candida sp identified in Specimen by Organism specific culture

3.40

2.41

1.4

1.3

—

(40761849) Varicella zoster virus IgG Ab [Units/volume] in Cerebral spinal fluid by Immunoassay

6.33

2.38

1.4

1.0

—

(3044212) Herpes simplex virus 1+2 IgM Ab [Presence] in Cerebral spinal fluid

6.33

2.38

1.4

1.0

—

(42868421) Varicella zoster virus IgM Ab [Presence] in Cerebral spinal fluid by Immunoassay

6.33

2.38

1.4

1.0

—

(3023368) Bacteria identified in Blood by Culture

107

830

1.44

2.34

4.7

4.5

—

(3051552) Clostridioides difficile toxin genes [Presence] in Stool by NAA with probe detection

194

1.78

2.34

1.5

1.6

—

(3024889) Methemoglobin/Hemoglobin.total in Venous blood

164

1.85

2.32

3.4

2.9

0.67

0.62

0.42

164

(3026782) Osmolality of Urine

561

1.49

2.32

5.3

3.2

548.43

546.92

mosm/kgh2o

0.02

494

(3048773) Triglyceride [Moles/volume] in Serum or Plasma --fasting

206

2301

0.70

2.31

4.5

1.34

1.28

mmol/l

0.61

186

2101

(3021447) Carbon dioxide [Partial pressure] in Venous blood

299

1.63

2.28

4.4

5.97

5.73

kpa

1.06

290

(36305771) Cryptosporidium sp DNA [Presence] in Stool by NAA with probe detection

3.95

2.26

1.1

—

(37020937) Giardia lamblia DNA [Presence] in Stool by NAA with probe detection

3.95

2.26

1.1

—

(3027238) Thyroperoxidase Ab [Units/volume] in Serum or Plasma

122

1.95

2.22

1.0

1.2

57.43

124.65

u/ml

—

(3004410) Hemoglobin A1c/Hemoglobin.total in Blood

209

2323

0.70

2.22

7.9

7.0

39.57

40.08

mmol/mol

0.41

189

2179

(3044889) 12 lead EKG panel

154

1799

0.72

2.21

4.1

4.5

—

0.25

—

(3004119) Hemoglobin [Mass/volume] in Venous blood

190

1.76

2.20

4.1

3.5

127.41

127.77

g/l

0.03

185

(3023410) Appearance of Cerebral spinal fluid

3.06

2.16

1.9

1.2

—

(40764999) Glomerular filtration rate [Volume Rate/Area] in Serum, Plasma or Blood by Creatinine-based formula (CKD-EPI)/1.73 sq M

214

2361

0.71

2.08

23.3

17.4

87.43

77.75

ml/min/173m2

5.64

201

2218

(3022313) Gas panel - Capillary blood

140

1.85

2.08

3.8

3.7

—

(3020682) Albumin/Creatinine [Ratio] in Urine

946

0.69

2.03

5.3

4.1

7.63

9.55

mg/mmol

0.16

601

(3017569) Oxygen content in Arterial blood

3.13

2.02

1.1

4.0

16.58

15.99

—

(3010517) Carboxyhemoglobin/Hemoglobin.total in Venous blood

166

1.75

1.95

3.5

3.0

1.08

1.15

0.24

166

(42869457) Rotavirus RNA [Identifier] in Stool by NAA with probe detection

4.60

1.95

1.2

—

(3016894) Varicella zoster virus DNA [Presence] in Cerebral spinal fluid by NAA with probe detection

4.60

1.95

1.4

1.0

—

(37020957) Sapovirus genogroups I+II+IV+V RNA [Presence] in Stool by NAA with probe detection

4.60

1.95

1.2

—

(3035637) Corticotropin [Mass/volume] in Plasma

2.90

1.87

1.8

1.5

16.50

31.80

ng/l

—

(3012544) pH of Venous blood

306

1.55

1.86

4.3

4.4

7.38

0.10

183

(3009035) Cobalamin (Vitamin B12) [Moles/volume] in Serum or Plasma

576

1.42

1.85

1.7

1.9

490.42

20124918.80

pmol/l

0.79

482

(3006923) Alanine aminotransferase [Enzymatic activity/volume] in Serum or Plasma

240

2577

0.71

1.72

14.3

12.7

27.44

25.55

u/l

1.09

235

2507

(3015736) pH of Urine

129

1077

1.33

1.71

4.5

3.7

6.34

6.19

0.82

607

(3001784) Prostate Specific Ag Free/Prostate specific Ag.total in Serum or Plasma

922

0.72

1.71

4.8

4.9

22.85

22.16

0.17

479

(3018418) pH of Serum or Plasma

102

829

1.34

1.61

4.9

4.6

7.39

0.33

589

(40761511) CBC panel - Blood by Automated count

235

2524

0.73

1.59

21.6

15.6

—

(3028531) Enolase.neuron specific [Mass/volume] in Serum or Plasma

2.31

1.57

1.7

1.8

12.39

16.08

ug/l

—

(1761482) Bacteria [#/volume] in Urine by Culture

1.97

1.57

4.0

5.1

—

(3016431) Calcium.ionized [Moles/volume] adjusted to pH 7.4 in Serum or Plasma

159

1380

1.31

1.57

9.1

7.9

1.20

1.21

mmol/l

0.38

134

1186

(46236952) Glomerular filtration rate [Volume Rate/Area] in Serum, Plasma or Blood by Creatinine-based formula (MDRD)/1.73 sq M

211

1.57

1.53

4.6

2.7

89.59

59.72

ml/min/173m2

0.40

(3006653) Thiamine [Moles/volume] in Blood

3.37

1.53

1.0

1.5

141.40

136.93

nmol/l

—

(43055089) Myosin Ab [Presence] in Serum or Plasma by Immunoblot

2.89

1.51

1.0

1.1

—

(3011412) CD3 cells [#/volume] in Blood

2.76

1.44

3.7

1.7

1353.33

927.88

e6/l

—

(3000850) Epithelial cells [#/volume] in Urine

647

1.34

1.42

4.3

2.9

6.41

4.95

e6/l

0.33

593

(3030306) Epithelial cells.non-squamous [#/volume] in Urine by Automated count

476

1.38

1.40

4.9

3.3

1.03

1.07

e6/l

0.05

268

(3016914) Bacteria identified in Cerebral spinal fluid by Culture

2.44

1.40

1.3

1.1

—

(42529200) Cancer Ag 15-3 [Units/volume] in Serum or Plasma by Immunoassay

2.64

1.37

6.0

4.2

26.32

61.81

u/ml

—

(3006442) Creatine [Moles/volume] in Serum or Plasma

2.97

1.36

1.0

1.9

84.20

80.94

umol/l

—

(3020460) C reactive protein [Mass/volume] in Serum or Plasma

232

2480

0.76

1.34

24.2

17.8

26.15

24.91

mg/l

0.21

209

2077

(4034850) Laboratory test

1.85

1.33

10.5

11.2

—

(40771025) 25-Hydroxyvitamin D3+25-Hydroxyvitamin D2 [Moles/volume] in Serum or Plasma

131

1126

1.28

1.33

2.5

79.44

77.63

nmol/l

0.33

119

1003

(3044242) Glucose [Moles/volume] in Arterial blood

2.53

1.31

1.7

4.4

11.60

8.38

mmol/l

—

(3018559) Microscopic observation [Identifier] in Buccal smear by Cyto stain

2.32

1.27

1.0

1.2

—

(3026008) Bacteria identified in Urine by Culture

794

1.28

1.19

4.4

3.2

—

(3012220) Varicella zoster virus IgM Ab [Presence] in Serum by Immunoassay

2.33

1.19

1.0

1.1

—

(3029287) Urinalysis microscopic panel [#/volume] - Urine by Automated count

116

994

1.26

1.19

6.0

3.6

—

(3037756) Immunofixation for Serum or Plasma

1.88

1.15

2.3

1.5

—

(3030467) Casts [#/volume] in Urine by Automated count

779

1.27

1.14

5.9

3.6

0.31

0.41

e6/l

0.44

583

(40760892) CBC W Ordered Manual Differential panel - Blood

575

1.30

1.13

5.6

5.9

—

(21494755) Public health laboratory ask at order entry panel

181

0.54

1.12

1.5

1.3

—

(3014576) Chloride [Moles/volume] in Serum or Plasma

413

1.34

1.10

5.8

7.4

102.94

104.15

mmol/l

0.97

413

(3029937) Albumin [Presence] in Urine by Test strip

784

1.26

1.08

5.6

4.1

0.00

0.01

estimate

0.50

267

(3007853) Bacteria identified in Skin by Aerobe culture

317

1.37

1.07

2.6

1.8

—

(40763086) Leukocyte esterase [Presence] in Urine by Automated test strip

121

1054

1.24

1.06

5.7

4.0

0.08

0.04

estimate

0.23

252

(3047007) Chlamydophila sp Ab [Presence] in Serum

2.29

1.03

1.0

1.1

—

(3003510) Neisseria gonorrhoeae DNA [Presence] in Urine by NAA with probe detection

176

0.55

1.03

1.0

2.0

—

(3017181) Myelocytes/Leukocytes in Blood

249

1.41

1.03

4.9

5.2

1.67

0.76

0.49

(3001334) Neutrophil cytoplasmic Ab [Units/volume] in Serum

1.65

1.02

1.1

1.3

—

(36304419) Bacteria [Presence] in Urine

724

1.26

1.01

5.3

3.5

—

0.00

estimate

—

(3021440) Promyelocytes/Leukocytes in Blood

233

1.42

1.00

5.1

5.3

0.36

0.12

0.39

(4035726) Immunohistochemistry procedure

242

1.41

1.00

1.2

1.4

—

(3007778) Kappa light chains/Lambda light chains [Mass Ratio] in Serum

100

1.63

0.98

3.6

4.5

2.46

4.32

ratio

—

(3032080) INR in Blood by Coagulation assay

149

1335

1.22

0.98

14.9

1.28

inr

0.03

119

1098

(3003396) Base excess in Arterial blood by calculation

340

1.34

0.98

6.9

9.2

2.58

0.97

mmol/l

2.14

279

(3023081) Carboxyhemoglobin/Hemoglobin.total in Blood

141

1.52

0.97

8.3

8.0

1.65

1.51

0.43

134

(43534045) MCM6 gene c.-13910C>T and -13915T>G [Identifier] in Blood or Tissue by Molecular genetics method Nominal

117

0.50

0.96

1.0

1.1

—

(3015377) Calcium [Moles/volume] in Serum or Plasma

105

910

1.23

0.95

2.6

3.5

2.32

2.35

mmol/l

1.24

827

(3019309) Folate [Moles/volume] in Red Blood Cells

487

1.29

0.95

1.8

1.7

1249.58

1188.11

nmol/l

0.19

368

(3019539) Treponema pallidum Ab [Titer] in Serum by Hemagglutination

2.16

0.92

1.0

1.8

—

(3045424) Erythrocytes [Presence] in Urine

127

1.53

0.91

3.0

2.3

0.00

0.03

estimate

—

(1175715) Chlamydophila pneumoniae IgM Ab [Presence] in Serum by Immunoassay

2.09

0.90

1.0

1.1

—

0.09

—

(3007930) Methemoglobin/Hemoglobin.total in Blood

128

1.52

0.88

8.6

8.4

0.90

0.85

0.23

121

(3002582) Erythrocytes [#/volume] in Urine

104

907

1.22

0.88

6.3

3.7

34.90

131.58

e6/l

0.74

709

(3008909) Norovirus RNA [Presence] in Stool by NAA with probe detection

1.62

0.86

1.2

—

(3019150) Specific gravity of Urine by Refractometry

607

1.24

0.84

5.2

4.3

1.02

kg/l

0.13

404

(3050238) Crystals [Presence] in Synovial fluid by Light microscopy

1.67

0.83

1.7

1.2

—

(3017143) Hepatitis C virus Ab [Presence] in Serum

281

0.69

0.82

1.2

1.5

—

(3019800) Troponin T.cardiac [Mass/volume] in Serum or Plasma

125

1117

1.20

0.81

4.2

4.1

80.84

41.58

ng/l

0.58

103

847

(3013139) Helicobacter pylori Ag [Presence] in Stool

148

0.60

0.81

1.2

—

(3021601) Nitrite [Presence] in Urine by Test strip

149

1354

1.19

0.80

5.8

4.0

0.00

estimate

-0.00

298

(40766800) Mycobacterium tuberculosis stimulated gamma interferon release by CD4+ T-cells [Units/volume] corrected for background in Blood

0.00

0.79

0.0

1.1

—

(3044640) Blood type and Crossmatch panel - Blood

850

1.20

0.78

2.6

—

(3009261) Glucose [Presence] in Urine by Test strip

152

1388

1.18

0.76

5.7

4.1

0.10

1.08

estimate

0.44

282

(3041096) Erythrocytes [Presence] in Urine by Automated

758

1.20

0.74

5.3

3.4

0.06

0.11

estimate

0.19

236

(3012202) Varicella zoster virus DNA [Presence] in Specimen by NAA with probe detection

2.02

0.73

1.4

1.3

—

(3021589) Normoblasts [#/volume] in Blood

128

1157

1.18

0.72

14.2

12.6

0.00

e9/l

0.45

112

954

(3019284) Hepatitis B virus surface Ag [Presence] in Serum

329

0.74

0.72

1.4

1.6

—

(3029511) Human papilloma virus DNA [Presence] in Specimen by NAA with probe detection

1.60

0.71

1.2

1.7

—

(3027544) Mycobacterium sp identified in Sputum by Organism specific culture

1.77

0.71

2.9

4.5

—

(3014133) Dog dander IgE Ab [Units/volume] in Serum

1.94

0.71

1.0

3.32

9.33

u/ml

—

(3004248) Sex hormone binding globulin [Moles/volume] in Serum or Plasma

1.55

0.70

1.8

38.31

43.55

nmol/l

0.49

(3019832) Treponema pallidum Ab [Presence] in Serum

144

1.42

0.70

1.4

1.9

—

(3045783) Sodium and Potassium panel [Moles/volume] - Serum or Plasma

305

0.73

0.69

7.8

—

(3045414) Leukocytes [Presence] in Urine

241

1.32

0.69

2.5

2.2

0.00

0.06

estimate

—

(3035285) Chloride [Moles/volume] in Venous blood

1.68

0.69

2.4

2.9

108.71

105.19

mmol/l

—

(3033705) Calcium.ionized [Moles/volume] in Venous blood

1.68

0.69

2.4

2.9

1.19

1.20

mmol/l

—

(3041354) Potassium [Moles/volume] in Venous blood

1.68

0.69

2.4

2.9

3.93

4.14

mmol/l

—

(3020059) Calcium [Moles/volume] corrected for albumin in Serum or Plasma

555

1.22

0.68

2.4

3.0

2.44

2.45

mmol/l

0.67

495

(3006140) Bilirubin.total [Moles/volume] in Serum or Plasma

156

1440

1.16

0.66

6.1

7.1

11.39

12.12

umol/l

0.16

147

1371

(3017918) Cytomegalovirus IgG Ab [Titer] in Serum or Plasma

1.60

0.65

1.3

1.4

—

(3029879) Epithelial cells.squamous [#/volume] in Urine by Automated count

445

1.23

0.65

5.8

3.5

2.21

1.60

e6/l

0.38

239

(3005013) Prostate Specific Ag Free [Mass/volume] in Serum or Plasma

678

0.82

0.65

3.2

3.4

0.88

0.83

ug/l

0.24

456

(3023520) Reticulocytes [#/volume] in Blood

307

1.27

0.65

1.8

2.9

71.82

67.50

e9/l

0.37

232

(3007164) IgA [Mass/volume] in Serum or Plasma

530

1.21

0.64

1.5

1.4

2.41

2.66

g/l

0.47

311

(3035350) Ketones [Presence] in Urine by Test strip

149

1373

1.16

0.64

5.7

4.0

0.00

5.30

estimate

0.50

307

(3022806) Fractional oxyhemoglobin in Capillary blood

1.74

0.64

2.2

1.3

85.84

89.36

—

(3003327) Ova and parasites identified in Stool by Light microscopy

1.57

0.63

1.3

1.5

—

(3003191) Choriogonadotropin [Presence] in Serum or Plasma

1.68

0.61

2.0

1.7

—

(3019601) Blood group antibody investigation [Interpretation] in Plasma or RBC

0.00

0.60

0.0

1.3

—

(3001079) Blood group antibody screen [Presence] in Serum or Plasma

132

1210

1.16

0.60

3.0

2.9

—

estimate

—

(42868674) Cholesterol in HDL/Cholesterol.total [Molar ratio] in Serum or Plasma

330

0.77

0.60

5.3

5.1

31.00

32.09

0.19

221

(3004451) EKG impression Narrative

0.00

0.59

0.0

1.2

—

(3004383) Neutrophil cytoplasmic Ab.classic [Titer] in Serum by Immunofluorescence

1.52

0.59

1.1

1.4

—

(44806420) Estimation of glomerular filtration rate

0.00

0.58

0.0

2.2

—

(3044938) Influenza virus A RNA [Presence] in Specimen by NAA with probe detection

498

1.20

0.58

2.2

2.0

—

(3033319) Streptococcus pyogenes Ag [Presence] in Throat

195

0.70

0.58

1.6

1.4

—

(3018095) Leukocytes [#/volume] in Urine

111

1008

1.16

0.57

6.9

4.3

164.15

101.89

e6/l

0.31

740

(3041942) Cyclic citrullinated peptide Ab [Units/volume] in Serum

424

1.21

0.57

1.3

1.36

12.65

u/ml

2.53

167

(3019977) pH of Arterial blood

350

1.23

0.56

7.4

9.0

7.40

7.42

0.60

214

(3000330) Specific gravity of Urine by Test strip

142

1.36

0.56

5.2

4.2

1.02

ratio

0.49

135

(36305247) Microscopic observation [Identifier] in Isolate by Gram stain

1.50

0.54

1.6

1.4

—

(3013826) Glucose [Moles/volume] in Serum or Plasma

170

1597

1.14

0.53

5.7

5.5

6.49

6.78

mmol/l

1.62

161

1515

(3048929) Epstein Barr virus Ab [Presence] in Serum

1.44

0.52

1.2

1.3

—

(3042596) Human coronavirus RNA [Presence] in Specimen by NAA with probe detection

1.51

0.52

1.7

1.3

—

(3021960) Folate [Moles/volume] in Serum or Plasma

850

1.15

0.51

1.9

1.8

18.46

20.27

nmol/l

0.71

715

(3013115) Eosinophils [#/volume] in Blood

153

1431

1.13

0.50

6.7

6.4

0.20

e9/l

0.14

139

1257

(36032269) Testosterone Free [Moles/volume] in Serum or Plasma by calculation

1.51

0.50

1.9

1.8

147.20

220.80

pmol/l

—

(3000012) Reticulocyte production index

1.57

0.49

2.0

2.6

1.01

0.88

—

(3015399) Transferrin receptor.soluble [Mass/volume] in Serum or Plasma

756

1.15

0.49

2.3

2.2

3.16

2.90

mg/l

0.36

660

(3030366) Cystatin C [Mass/volume] in Serum or Plasma

1.41

0.49

6.7

3.9

2.05

1.58

mg/l

0.66

(3043924) Respiratory syncytial virus RNA [Identifier] in Specimen by NAA with probe detection

375

1.20

0.49

2.0

1.9

—

(3021788) Differential panel - Synovial fluid

1.47

0.47

1.4

1.3

—

(43054903) Holo-transcobalamin II [Moles/volume] in Serum

130

1208

1.13

0.47

2.4

2.2

94.09

94.76

pmol/l

0.05

646

(3014162) Mycobacterium tuberculosis DNA [Presence] in Specimen by NAA with probe detection

116

0.68

0.46

1.9

3.2

—

(3000494) Fungus identified in Specimen by Culture

329

0.80

0.46

1.4

1.5

—

(3035995) Alkaline phosphatase [Enzymatic activity/volume] in Serum or Plasma

210

2010

1.13

0.46

9.2

8.6

75.25

80.40

u/l

1.54

204

1895

(3009201) Thyrotropin [Units/volume] in Serum or Plasma

219

2274

0.88

0.46

5.8

5.1

1.83

1.97

mu/l

1.12

207

2072

(706163) SARS-CoV-2 (COVID-19) RNA [Presence] in Respiratory system specimen by NAA with probe detection

132

1409

0.89

0.43

2.6

2.9

—

(42868716) Shigella species+EIEC invasion plasmid antigen H ipaH gene [Presence] in Stool by NAA with probe detection

1.57

0.42

1.4

1.3

—

(3024950) Chlamydia trachomatis DNA [Presence] in Urine by NAA with probe detection

194

0.76

0.41

1.3

2.1

—

(21493466) Plesiomonas shigelloides DNA [Presence] in Stool by NAA with non-probe detection

1.52

0.41

1.4

1.3

—

(3025468) Yersinia sp identified in Specimen by Organism specific culture

1.52

0.41

1.4

1.3

—

(3037534) Parathyrin related protein [Mass/volume] in Serum or Plasma

0.00

0.41

0.0

1.8

—

76.08

—

(3037692) Legionella sp identified in Specimen by Organism specific culture

0.00

0.41

0.0

1.3

—

(42870588) Differential panel, method unspecified - Blood

902

1.13

0.41

6.0

6.1

—

(3000991) Gas panel - Venous blood

251

1.22

0.41

6.3

9.7

—

(3012568) Campylobacter sp identified in Specimen by Organism specific culture

1.48

0.40

1.4

1.3

—

(3005988) Vibrio sp identified in Specimen by Organism specific culture

1.48

0.40

1.4

1.3

—

(3024522) Salmonella sp identified in Specimen by Organism specific culture

1.48

0.40

1.4

1.3

—

(3053028) Streptococcus sp identified in Specimen by Organism specific culture

0.00

0.40

0.0

1.2

—

(3019902) Methicillin resistant Staphylococcus aureus [Presence] in Specimen by Organism specific culture

289

1.20

0.40

5.2

3.6

—

(586526) SARS-CoV-2 (COVID-19) RNA [Presence] in Nasopharynx by NAA with probe detection

160

1.27

0.39

1.8

1.4

—

(3051651) Icteric interference index of Serum or Plasma

0.00

0.39

0.0

3.7

—

0.68

—

(40758897) Direct antiglobulin test.IgG specific reagent [Presence] on Red Blood Cells

0.00

0.39

0.0

1.9

—

(40768441) Liver Pathology biopsy report

0.00

0.39

0.0

1.4

—

(40758895) Direct antiglobulin test.complement C3d specific reagent [Presence] on Red Blood Cells

0.00

0.39

0.0

1.9

—

(3026493) Urate [Moles/volume] in Serum or Plasma

720

1.13

0.39

3.7

3.0

345.87

357.72

umol/l

0.45

625

(1761868) Lipid panel - Serum or Plasma

925

0.89

0.39

3.7

3.5

—

(3038288) Influenza virus B RNA [Presence] in Specimen by NAA with probe detection

356

1.17

0.38

2.1

2.0

—

(3008486) Thyroxine (T4) free [Moles/volume] in Serum or Plasma

195

1870

1.11

0.38

4.6

4.1

15.08

14.84

pmol/l

0.69

182

1683

(3013721) Aspartate aminotransferase [Enzymatic activity/volume] in Serum or Plasma

896

1.12

0.38

3.5

3.6

29.77

32.12

u/l

0.51

850

(3019198) Lymphocytes [#/volume] in Blood

148

1402

1.10

0.36

6.6

6.3

1.71

1.91

e9/l

1.19

133

1244

(3035715) Granulocytes [#/volume] in Blood

1.47

0.36

7.0

2.5

4.16

4.87

e9/l

—

(3016771) Amylase [Enzymatic activity/volume] in Serum or Plasma

860

1.12

0.36

4.4

2.6

61.51

65.05

u/l

0.17

803

(46237023) Hepatitis B virus core and surface Ab and surface Ag panel - Serum

0.62

0.35

1.0

1.2

—

(3042631) Mycobacterium sp identified in Specimen

1.44

0.35

1.5

2.8

—

(3029080) Hemoglobin [Entitic mass] in Reticulocytes

1.44

0.35

1.5

2.4

35.17

33.52

—

(3015635) Cytomegalovirus IgM Ab [Units/volume] in Serum or Plasma

1.40

0.35

1.0

1.5

—

(36033641) SARS-CoV-2 (COVID-19) Ag [Presence] in Upper respiratory specimen by Rapid immunoassay

1.40

0.35

1.7

1.8

—

(37019628) Gastrointestinal bacterial pathogens panel - Stool by NAA with probe detection

1.38

0.35

1.3

—

(3006315) Basophils [#/volume] in Blood

146

1387

1.10

0.33

6.4

6.2

0.04

e9/l

0.31

130

1205

(3007844) Epstein Barr virus capsid IgM Ab [Units/volume] in Serum by Immunoassay

1.31

0.33

1.0

1.3

—

(3004809) Band form neutrophils/Leukocytes in Blood

1.31

0.33

6.3

3.3

0.83

1.16

—

(3002256) Pathology report gross observation

357

0.85

0.32

1.4

1.3

—

(3013707) Erythrocyte sedimentation rate [Velocity] in Red Blood Cells by Westergren method

187

1939

0.91

0.31

5.3

4.4

13.02

13.16

mm/h

0.04

172

1794

(3001604) Monocytes [#/volume] in Blood

145

1380

1.09

0.31

6.4

6.2

0.57

0.60

e9/l

1.02

130

1195

(3021614) Rheumatoid factor [Units/volume] in Serum or Plasma

449

1.13

0.31

1.4

1.3

27.44

32.31

iu/ml

0.16

146

(3013650) Neutrophils [#/volume] in Blood by Automated count

160

1531

1.09

0.30

9.4

10.2

4.27

4.15

e9/l

0.22

147

1343

(3021879) Hepatitis B virus core Ab [Presence] in Serum

185

0.80

0.30

1.1

1.4

—

(3005702) Mycobacterium sp identified in Specimen by Organism specific culture

1.34

0.30

1.1

1.3

—

(3046524) Influenza virus A Ag [Presence] in Nasopharynx by Immunoassay

1.28

0.30

1.4

—

(3043362) Influenza virus B Ag [Presence] in Nasopharynx by Immunoassay

1.28

0.30

1.4

—

(3021347) Calcium.ionized [Moles/volume] in Serum or Plasma

131

1244

1.09

0.30

8.4

7.1

1.20

1.21

mmol/l

0.79

122

1137

(3050380) Cytology report of Cervical or vaginal smear or scraping Cyto stain

1.26

0.29

1.3

1.4

—

(40765161) Human bocavirus DNA [Presence] in Specimen by NAA with probe detection

1.23

0.29

1.6

—

(3049717) Cytology report of Urine Cyto stain

129

0.77

0.28

2.3

3.0

—

(3048689) Calprotectin [Mass/mass] in Stool

290

1.15

0.28

2.0

2.4

163.07

119.25

ug/g

0.29

233

(3043109) Cytology report of Tissue fine needle aspirate Cyto stain

1.30

0.28

1.4

1.2

—

(3025159) Blasts/Leukocytes in Blood

243

1.17

0.28

5.0

5.6

0.00

0.17

—

(3024891) Influenza virus A+B Ag [Presence] in Specimen

1.24

0.27

1.1

1.2

—

(3051714) Fibrin D-dimer FEU [Mass/volume] in Platelet poor plasma

590

1.11

0.27

1.8

1.67

1.57

mg/l

0.05

476

(3011371) Neisseria gonorrhoeae DNA [Presence] in Specimen by NAA with probe detection

1.20

0.26

1.3

2.1

—

(3008364) Apolipoprotein A-I [Mass/volume] in Serum or Plasma

0.70

0.26

1.0

1.1

1.52

1.55

g/l

—

(3014791) Apolipoprotein B [Mass/volume] in Serum or Plasma

0.67

0.26

1.0

1.1

0.96

0.89

g/l

—

(3002482) Mycoplasma pneumoniae DNA [Presence] in Specimen by NAA with probe detection

1.26

0.26

1.1

1.5

—

(3024403) Complement+Immunoglobulin [Units/volume] in Red Blood Cells

0.74

0.24

1.0

1.8

—

(3016881) Enterovirus RNA [Presence] in Specimen by NAA with probe detection

1.32

0.23

1.4

1.8

—

(3018006) Microscopic observation [Identifier] in Cervix by Cyto stain.thin prep

286

1.13

0.22

1.6

1.5

—

(3024135) Streptococcus.beta-hemolytic [Presence] in Throat by Organism specific culture

367

0.89

0.22

1.3

1.5

—

(3005156) Respiratory syncytial virus A RNA [Presence] in Specimen by NAA with probe detection

0.00

0.21

0.0

1.7

—

(3000108) Respiratory syncytial virus B RNA [Presence] in Specimen by NAA with probe detection

0.00

0.21

0.0

1.7

—

(3029023) Hepatitis E virus IgG Ab [Presence] in Serum by Immunoassay

0.00

0.21

0.0

1.1

—

(3026515) Parvovirus B19 IgM Ab [Units/volume] in Serum

0.00

0.21

0.0

1.2

—

(40760109) Toxoplasma gondii IgG Ab avidity [Ratio] in Serum by Immunoassay

0.00

0.21

0.0

1.0

—

(3002222) Hepatitis E virus IgM Ab [Presence] in Serum

0.00

0.21

0.0

1.1

—

(1002224) Polysomnography panel

105

0.76

0.21

1.0

1.1

—

(21493195) Respiratory pathogens DNA and RNA tested for in Respiratory system specimen by NAA with probe detection

0.00

0.21

0.0

1.7

—

(3013566) Clostridioides difficile [Presence] in Stool by Organism specific culture

0.00

0.21

0.0

1.2

—

(44813793) Dust mix specific IgE antibody measurement

0.00

0.21

0.0

1.0

—

(3036185) Alkaline phosphatase.liver 2 [Enzymatic activity/volume] in Serum or Plasma

0.00

0.21

0.0

1.2

—

43.83

—

(3035062) Alkaline phosphatase.liver 1 [Enzymatic activity/volume] in Serum or Plasma

0.00

0.21

0.0

1.2

—

130.00

—

(3029536) Hepatitis C virus RNA [Units/volume] (viral load) in Specimen by NAA with probe detection

0.00

0.21

0.0

1.2

—

(3024666) Lithium [Moles/volume] in Serum or Plasma

0.00

0.21

0.0

11.2

—

0.63

—

(3006922) Hepatitis E virus Ab [Presence] in Serum

0.00

0.21

0.0

1.1

—

(37208534) Antinuclear antibody arbitrary concentration in serum

0.00

0.21

0.0

1.0

—

(3010566) Parathyrin.intact [Moles/volume] in Serum or Plasma

1.20

0.20

5.0

3.3

12.23

9.37

pmol/l

—

(43054914) Glucose tolerance 2 hours panel - Serum or Plasma

242

1.13

0.19

1.5

—

(3025941) Bacteria identified in Stool by Culture

128

1.18

0.18

1.3

—

(3012336) Haptoglobin [Mass/volume] in Serum or Plasma

153

0.84

0.18

1.5

1.9

1.82

1.48

g/l

0.68

141

(36660697) Celiac disease serology panel - Serum

214

1.13

0.18

1.1

—

(3026910) Gamma glutamyl transferase [Enzymatic activity/volume] in Serum or Plasma

171

1664

1.06

0.18

3.3

3.4

48.78

50.98

u/l

0.10

158

1565

(3017732) Neutrophils [#/volume] in Blood

349

1.10

0.18

5.2

3.1

5.76

5.08

e9/l

0.15

302

(40761536) Microorganisms panel - Urine sediment

205

1.13

0.17

4.6

3.6

—

(3011831) Apolipoprotein B/Apolipoprotein A-I [Percentile]

0.73

0.17

1.0

1.1

—

0.76

—

(3002179) Metamyelocytes/Leukocytes in Blood

244

1.12

0.17

3.7

4.9

2.75

0.46

—

(3044254) Respiratory syncytial virus RNA [Presence] in Specimen by NAA with probe detection

101

1.20

0.17

2.5

1.6

—

(3001122) Ferritin [Mass/volume] in Serum or Plasma

114

1182

0.94

0.16

3.6

3.1

264.23

143.13

ug/l

0.90

104

1098

(3029187) Natriuretic peptide.B prohormone N-Terminal [Mass/volume] in Serum or Plasma

931

1.06

0.16

3.2

3.3

1686.30

1491.21

ng/l

0.16

794

(3012110) Lysozyme [Mass/volume] in Serum or Plasma

1.11

0.16

2.5

2.3

12.18

13.86

mg/l

—

(3019225) pH of Specimen

255

0.89

0.16

5.0

3.8

7.30

7.35

0.24

181

(3006093) Chlamydia trachomatis DNA [Presence] in Specimen by NAA with probe detection

1.21

0.15

1.2

2.0

—

(3019060) Gas panel - Arterial blood

188

1.13

0.15

9.3

6.5

—

(3042194) Human metapneumovirus RNA [Presence] in Specimen by NAA with probe detection

1.11

0.15

1.6

1.5

—

(46235759) Influenza virus B RNA [Presence] in Nasopharynx by NAA with probe detection

103

1.17

0.14

2.6

1.8

—

(3037121) Protein [Mass/volume] in Urine

1.18

0.13

2.4

4.3

330.80

319.42

mg/l

—

(3042936) Bacteria identified in Isolate by Culture

426

1.07

0.11

2.3

2.1

—

(3006588) Cancer Ag 15-3 [Units/volume] in Serum or Plasma

1.14

0.10

2.6

3.3

82.80

35.40

u/ml

—

(3030692) Respiratory virus DNA+RNA [Identifier] in Specimen by NAA with probe detection

1.14

0.10

1.8

1.4

—

(40768443) Skin Pathology biopsy report

106

1.14

0.10

1.5

1.2

—

(3044941) Cell count panel - Synovial fluid

1.11

0.10

2.0

1.2

—

(3023419) Bacteria identified in Sputum by Culture

1.04

0.09

3.0

2.7

—

(3000492) Spirometry study

243

1.08

0.09

2.0

1.5

—

(40768804) Tissue Pathology biopsy report

1005

0.96

0.09

2.4

2.2

—

(3035933) Granulocytes/Leukocytes in Blood

1.07

0.08

8.5

2.6

62.83

59.76

—

(3021337) Troponin I.cardiac [Mass/volume] in Serum or Plasma

551

0.95

0.08

3.2

3.9

55.52

357.83

ng/l

2.24

449

(3004716) Salmonella sp identified in Stool by Organism specific culture

113

0.88

0.08

1.5

1.3

—

(3039443) Prostate specific Ag panel - Serum or Plasma

1.04

0.08

1.3

1.5

—

(4094501) Cardiovascular stress test using bicycle ergometer

1.08

0.08

1.1

—

(3005322) IgE [Units/volume] in Serum or Plasma

164

0.91

0.08

1.1

1.3

1064.40

341.53

u/ml

0.81

148

(40768793) Breast Pathology biopsy report

1.05

0.08

1.0

1.3

—

(3008898) HLA-B27 [Presence]

1.07

0.07

1.0

1.1

—

(3040853) Adenovirus DNA [Identifier] in Specimen by NAA with probe detection

1.06

0.07

1.6

—

(3019050) Tissue transglutaminase IgA Ab [Units/volume] in Serum

574

1.03

0.05

1.3

1.2

0.72

1.15

u/ml

0.84

149

(4010399) Spirometry for bronchospasm with prolonged evaluation after bronchodilator

212

0.94

0.05

1.4

—

(3018677) aPTT in Platelet poor plasma by Coagulation assay

456

1.04

0.05

2.0

2.1

29.20

28.99

0.15

445

(40768797) Stomach Pathology biopsy report

357

1.04

0.05

1.2

1.3

—

(4024509) Urine culture

120

1.09

0.05

2.2

1.8

—

(3022145) Colonoscopy Study observation

302

0.96

0.04

1.3

—

(46235355) HIV 1 and 2 tests - Meaningful Use set

372

0.96

0.04

1.4

1.8

—

(3002030) Lymphocytes/Leukocytes in Blood

128

1294

0.98

0.03

7.2

6.4

25.38

26.68

0.74

122

1233

(3016251) Hemoglobin.gastrointestinal [Presence] in Stool

141

1.07

0.03

2.5

2.4

—

(40758558) Short blood count panel - Blood

782

1.01

0.01

6.8

—

(3003694) ABO and Rh group [Type] in Blood

663

1.01

0.01

1.4

—

(3006504) Eosinophils/Leukocytes in Blood

127

1276

0.99

0.00

7.2

6.2

2.73

2.91

0.50

120

1201

(3005772) Bilirubin.conjugated [Moles/volume] in Serum or Plasma

331

1.00

0.00

2.0

3.4

4.86

7.89

umol/l

2.39

300

(3022096) Basophils/Leukocytes in Blood

128

1276

1.01

0.00

7.3

6.3

0.63

0.66

0.20

122

1200

(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

177

1.02

0.00

2.1

1.8

—

(46236098) ABO and Rh group [Type] in Blood by Confirmatory method

633

0.99

0.00

2.6

2.5

—

(3019069) Monocytes/Leukocytes in Blood

128

1277

1.00

0.00

7.4

6.4

8.69

8.90

0.39

122

1206

(3038071) Oxygen [Partial pressure] in Mixed venous blood

0.00

0.0

10.3

—

4.70

—

(3052592) Norovirus Ag [Presence] in Stool

0.00

0.0

1.0

—

(3006418) Campylobacter sp identified in Tissue by Organism specific culture

1.00

0.00

1.6

1.2

—

(3001684) Respiratory syncytial virus Ag [Presence] in Specimen

0.00

0.0

1.2

—

(3014765) Yersinia sp identified in Stool by Organism specific culture

1.00

0.00

1.6

1.2

—

(3021513) Carbon dioxide [Partial pressure] in Mixed venous blood

0.00

0.0

10.5

—

5.83

—

(40771527) Human papilloma virus E6+E7 mRNA [Presence] in Cervix by NAA with probe detection

0.00

0.0

1.7

—

(3044936) Clostridioides difficile toxin A+B [Presence] in Stool by Immunoassay

0.00

0.0

1.1

—

(42529406) Shigella sp [Presence] in Stool by Culture

0.99

0.00

1.6

1.2

—

(40763634) TCRG gene rearrangements [Presence] in Bone marrow by Molecular genetics method

0.00

0.0

1.0

—

(3022907) Direct antiglobulin test.polyspecific reagent [Presence] on Red Blood Cells

0.00

0.0

1.0

—

(3018921) Toxoplasma gondii IgA Ab [Units/volume] in Serum

0.00

0.0

1.0

—

(3017962) TCRG gene rearrangements [Presence] in Blood or Tissue by Molecular genetics method

0.00

0.0

1.2

—

(3002619) Bacteria identified in Specimen by Culture

0.00

0.0

1.3

—

(3033099) Centromere Ab [Titer] in Serum

0.00

-0.00

0.0

1.2

—

(3001964) Herpes simplex virus Ag [Presence] in Specimen

0.00

-0.00

0.0

1.4

—

(3009876) Amylase isoenzyme 3 panel - Serum or Plasma

0.00

-0.00

0.0

1.2

—

(3034037) Hematocrit [Volume Fraction] of Mixed venous blood by calculation

0.00

-0.00

0.0

12.0

—

10.18

—

(3019174) dRVVT (LA screen)

0.00

-0.00

0.0

1.2

—

(3031478) Chlamydophila pneumoniae DNA [Presence] in Specimen by NAA with probe detection

0.94

-0.00

1.0

1.5

—

(44806071) Cardiolipin IgM antibody measurement

0.00

-0.00

0.0

1.2

—

(3044009) aPTT.lupus sensitive (LA screen)

0.00

-0.00

0.0

1.2

—

(3022058) Hepatitis B virus DNA [Presence] in Serum or Plasma by NAA with probe detection

0.00

-0.00

0.0

1.2

—

(3027955) HFE gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal

0.00

-0.00

0.0

1.0

—

(3028334) Neisseria gonorrhoeae [Presence] in Specimen by Organism specific culture

0.00

-0.00

0.0

1.6

—

(3042111) Morphology [Interpretation] in Bone marrow Narrative

1.00

-0.00

1.7

1.8

—

(3020650) Glucose [Presence] in Urine

0.00

-0.00

0.0

1.1

—

0.00

—

(44817194) Complement alternate pathway AH50 actual/normal in Serum by Immunoassay

0.00

-0.00

0.0

1.0

—

98.80

—

(40758292) HTLV I+II Ab panel - Serum

0.00

-0.00

0.0

1.6

—

(3035509) Tobramycin [Mass/volume] in Serum or Plasma

0.00

-0.00

0.0

3.2

—

1.06

—

(3035457) Cefaclor IgE Ab [Units/volume] in Serum

0.00

-0.00

0.0

1.0

—

0.02

—

(3015024) Glucose [Moles/volume] in Serum or Plasma --1 hour post dose glucose

0.00

-0.00

0.0

1.4

—

6.58

—

(3052912) Proteinase 3 IgG Ab [Units/volume] in Serum

0.00

-0.00

0.0

1.0

—

(3026048) Bordetella pertussis IgG Ab [Units/volume] in Serum

0.00

-0.00

0.0

1.1

—

36.14

—

(3021162) Amylase [Enzymatic activity/volume] in Specimen

0.00

-0.00

0.0

2.4

—

9422.13

—

(3038769) Chlamydophila pneumoniae IgG Ab [Units/volume] in Serum by Immunoassay

0.00

-0.00

0.0

1.0

—

22.22

—

(3014891) Appearance of Pleural fluid

0.00

-0.00

0.0

1.3

—

(3034426) Prothrombin time (PT)

0.00

-0.00

0.0

1.0

—

27.40

—

(3012477) Bordetella pertussis DNA [Presence] in Specimen by NAA with probe detection

1.02

-0.00

1.2

1.6

—

(3028717) Thiamine [Mass/volume] in Blood

0.00

-0.00

0.0

1.4

—

64.40

—

(4198724) Urine methamphetamine measurement

0.00

-0.00

0.0

1.2

—

(3030313) Adrenal Ab [Titer] in Serum

0.00

-0.00

0.0

1.0

—

(40768800) Prostate Pathology biopsy report

0.92

-0.00

1.1

—

(3028371) Actinomyces sp identified in Specimen by Organism specific culture

0.00

-0.00

0.0

1.6

—

(3028679) Herpes simplex virus Ab [Presence] in Serum

0.00

-0.00

0.0

1.0

—

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: 8

Endpoint

Case Overlap

Survival Analysis

Genetic Correlations

Genetic Signals

N (Jaccard index)

HR [CI]

rg [CI]

Hits

Coloc Hits

FinRegistry

FinnGen

FinRegistry

FinnGen

Loading data

Other and unspecified spinal muscular atrophies

Endpoint definition

Endpoint definition steps

FinnGen

Phenotype data

1. Apply sex-specific rule

2. Check conditions

3. Check pre-conditions, main-only, mode, registry filters

4. Check minimum number of events

5. Include endpoints

6. Filter based on genotype QC (FinnGen only)

Similar endpoints

Case counts by codes

Summary Statistics

-FinRegistry-

Key figures

-FinnGen-

Key figures

-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

Matched cohort

LabWAS

Mortality – FinRegistry

Association

Females

Males

Mortality risk

Relationships between endpoints