Risteys · Q17_ANOPH_MICROPHT

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 — Q11 Cause of death: ICD-10 — Q11 2 out of 7 registries used, show all original rules.	19
4. Check minimum number of events None	19
5. Include endpoints None	19
6. Filter based on genotype QC (FinnGen only)	19

Summary Statistics

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-FinRegistry-

Key figures

	All	Female	Male
Number of individuals
Whole population	360	175	184
Only index persons	297	144	153
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	18.81	15.32	21.80
Only index persons	25.43	21.83	28.82

-FinnGen-

Key figures

	All	Female	Male
Number of individuals	19	11	8
Unadjusted period prevalence (%)	0.00	0.00	0.00
Median age at first event (years)	48.25	35.13	66.29

-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

No data

-FinnGen-

Cumulative Incidence Function

Not a core endpoint, no data to show.

CodeWAS (R11)

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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.

No data available

LabWAS

↥

(ID) Name

N Cases

N Controls

-log₁₀(p)

cases

controls

unit

cases

controls

-log₁₀(p)

N cases

N controls

(3007853) Bacteria identified in Skin by Aerobe culture

5.37

2.88

3.1

1.3

—

(3004529) Oxygen [Partial pressure] adjusted to patient's actual temperature in Venous blood

6.73

2.63

6.0

3.2

76.7

39.7

—

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

6.73

2.63

3.5

19.1

g/l

135.3

126.9

—

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

6.73

2.63

5.3

2.8

mmol/l

24.9

23.5

—

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

6.33

2.22

1.0

2.3

—

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

4.41

2.13

7.4

11.4

mmol/l

106.3

105.0

—

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

4.41

2.13

5.7

11.0

kpa

5.5

5.6

—

(3000991) Gas panel - Venous blood

4.64

2.02

9.2

3.5

—

(3024354) Oxygen [Partial pressure] in Venous blood

3.68

1.66

6.0

11.2

kpa

5.8

4.2

—

(3014111) Lactate [Moles/volume] in Serum or Plasma

3.01

1.23

6.2

10.8

mmol/l

1.2

1.5

—

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

2.46

1.09

15.9

8.3

mmol/l

1.2

1.23

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

2.40

1.03

5.1

2.5

mmol/l

2.3

—

(3033658) Prothrombin time (PT) actual/Normal

2.45

0.97

4.5

9.9

90.7

86.4

—

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

2.11

0.81

1.1

1.9

—

(1761868) Lipid panel - Serum or Plasma

2.14

0.77

2.1

3.0

—

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

1.98

0.69

2.6

1.6

—

(3009508) Creatinine [Moles/volume] in Urine

1.97

0.64

6.0

2.6

mmol/l

7.3

8.1

—

(3033319) Streptococcus pyogenes Ag [Presence] in Throat

0.00

0.62

0.0

1.3

—

(40758558) Short blood count panel - Blood

1.93

0.59

12.6

6.5

—

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

1.70

0.48

4.0

4.9

—

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

1.83

0.48

3.2

1.9

—

(3044889) 12 lead EKG panel

1.75

0.47

5.8

3.3

—

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

1.76

0.47

1.6

1.5

g/l

1.0

3.0

—

(3012516) Albumin [Mass/volume] in Urine

1.76

0.47

7.0

2.9

mg/l

7.3

1811.1

—

(3011397) Hemoglobin [Presence] in Urine by Test strip

1.69

0.45

5.2

3.5

—

(3020682) Albumin/Creatinine [Ratio] in Urine

1.69

0.45

8.6

3.9

mg/mmol

1.4

5.0

—

(3041096) Erythrocytes [Presence] in Urine by Automated

1.63

0.44

10.4

3.8

—

(40760892) CBC W Ordered Manual Differential panel - Blood

1.58

0.43

7.8

11.4

—

(40768797) Stomach Pathology biopsy report

0.00

0.42

0.0

1.2

—

(3026008) Bacteria identified in Urine by Culture

1.67

0.41

4.3

4.0

—

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

1.48

0.38

15.0

3.3

—

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

1.47

0.36

10.0

3.9

—

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

121

1.59

0.34

25.8

12.4

ml/min/173m2

81.8

85.7

0.18

(3037467) Urinalysis macro (dipstick) panel - Urine

100

0.66

0.33

15.1

4.1

—

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

1.38

0.25

2.8

1.3

nmol/l

30.4

22.8

—

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

1.34

0.25

4.0

2.1

—

(3021584) Pregnancy associated plasma protein A [Units/volume] in Serum or Plasma

0.00

0.22

0.0

1.6

—

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

0.00

0.22

0.0

3.1

—

(4010399)

0.00

0.22

0.0

1.5

—

(3015736) pH of Urine

1.33

0.22

10.1

3.6

—

(3003338) MCHC [Mass/volume]

131

0.77

0.21

39.8

21.6

g/l

330.1

332.3

0.40

131

(3000492) Spirometry study

0.00

0.21

0.0

1.6

—

(40768804) Tissue Pathology biopsy report

1.26

0.10

1.3

2.3

—

(3044640) Blood type and Crossmatch panel - Blood

1.19

0.10

3.8

3.0

—

(3046870) Tissue transglutaminase IgG Ab [Units/volume] in Serum

0.00

0.0

1.1

—

(3034770) Mitochondria Ab [Titer] in Serum

0.00

0.0

1.7

—

(1002224) Polysomnography panel

0.00

0.0

1.0

—

(3016251) Hemoglobin.gastrointestinal [Presence] in Stool

0.00

0.0

1.3

—

(46235831) Pregnancy associated plasma protein A [Multiple of the median] adjusted in Serum or Plasma

0.00

0.0

2.2

—

(3041008) Bicarbonate [Moles/volume] standard in Arterial cord blood

0.00

0.0

1.0

—

17.6

—

(3005033) Fetal Nuchal fold Thickness US

0.00

0.0

2.0

—

(3000764) Benzodiazepines [Presence] in Urine

0.00

0.0

1.8

—

(3050129) First trimester maternal screen panel - Serum or Plasma

0.00

0.0

1.5

—

(42870588) Differential panel, method unspecified - Blood

0.95

0.00

8.6

12.3

—

(40763531) Fetal Nuchal fold [Multiple of the median] Thickness adjusted for maternal weight

0.00

0.0

2.2

—

(3043238) Trisomy 21 risk [Likelihood] in Fetus

0.00

0.0

1.8

—

(3049207) Fetal Trisomy 21 risk [Likelihood] Based on maternal age

0.00

0.0

2.2

—

(3023410) Appearance of Cerebral spinal fluid

0.00

0.0

6.2

—

(3027008) Opiates [Presence] in Urine

0.00

0.0

1.8

—

(3008757) Leukocyte morphology finding [Identifier] in Blood

0.00

0.0

6.2

—

(3028300) Cannabinoids [Presence] in Urine

0.00

0.0

1.8

—

(3019145) Choriogonadotropin.beta subunit free [Mass/volume] in Serum or Plasma

0.00

0.0

1.9

—

(40766189) Gliadin peptide IgG Ab [Units/volume] in Serum by Immunoassay

0.00

0.0

1.0

—

(3047352) Trisomy 18 risk [Likelihood] in Fetus

0.00

0.0

2.0

—

(3011288) Drugs identified in Urine by Screen method

0.00

0.0

2.0

—

(21494755) Public health laboratory ask at order entry panel

0.00

0.0

1.4

—

(3016879) Cocaine [Presence] in Urine

0.00

0.0

1.8

—

(3006598) pH of Arterial cord blood

0.00

0.0

1.0

—

(3003181) Sodium [Moles/volume] in Urine

0.00

0.0

2.2

—

67.6

—

(40768443) Skin Pathology biopsy report

0.00

0.0

1.2

—

(3044290) Cell count panel - Cerebral spinal fluid

0.00

0.0

10.8

—

(3003932) Carbon dioxide [Partial pressure] in Arterial cord blood

0.00

0.0

1.0

—

7.2

—

(3027944) Amphetamines [Presence] in Urine

0.00

0.0

1.8

—

(42870560) Thyrotropin [Units/volume] in Cord blood

0.00

0.0

1.0

—

5.3

—

(3043723) Beta 1 globulin [Mass/volume] in Serum or Plasma by Electrophoresis

0.00

0.0

1.8

—

(3008714) Choriogonadotropin [Multiple of the median] adjusted in Serum or Plasma

0.00

0.0

2.2

—

(3013139) Helicobacter pylori Ag [Presence] in Stool

0.00

0.0

1.1

—

(3019473) Protein [Mass/volume] in Cerebral spinal fluid

0.00

0.0

6.7

—

233.8

—

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

1.04

0.00

3.9

3.6

—

(3004959) Base excess in Arterial cord blood by calculation

0.00

0.0

1.0

—

(3021706) Oxygen [Partial pressure] in Arterial cord blood

0.00

0.0

1.0

—

3.5

—

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

0.00

0.0

1.2

—

(4034850)

0.00

0.0

6.8

—

(3003265) Liver kidney microsomal Ab [Titer] in Serum by Immunofluorescence

0.00

0.0

1.5

—

Mortality – FinRegistry

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Association

Association between endpoint Q17_ANOPH_MICROPHT_MACROP and mortality.

Females

No data

Males

No data

Mortality risk

Mortality risk for people of age

years, who have Q17_ANOPH_MICROPHT_MACROP.

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

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Index endpoint: Q17_ANOPH_MICROPHT_MACROP – Nanophthalmos, microphthalmos and macrophthalmos

GWS hits: -

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

Loading data

NAME	Q17_ANOPH_MICROPHT_MACROP
CONTROL_EXCLUDE	Q17_CONGEN_MALFO_EYE_EAR_FACE_NECK
CONTROL_PRECONDITIONS
CONTROL_CONDITIONS
SEX
INCLUDE
PRE_CONDITIONS
CONDITIONS
OUTPAT_ICD
OUTPAT_OPER
HD_MAINONLY
HD_ICD_10_ATC
HD_ICD_10	Q11
HD_ICD_9
HD_ICD_8
HD_ICD_10_EXCL
HD_ICD_9_EXCL
HD_ICD_8_EXCL
COD_MAINONLY
COD_ICD_10	Q11
COD_ICD_9
COD_ICD_8
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

Nanophthalmos, microphthalmos and macrophthalmos

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 (R11)

LabWAS

Mortality – FinRegistry

Association

Females

Males

Mortality risk

Relationships between endpoints