Risteys · Q17_DIASTROFIC

Endpoint definition steps	FinnGen
Phenotype data	520210
1. Apply sex-specific rule None	520210
2. Check conditions None	520210
3. Check pre-conditions, main-only, mode, registry filters Registry filters: Hospital discharge: ICD-10 — Q77.5 Cause of death: ICD-10 — Q77.5 2 out of 7 registries used, show all original rules.	13
4. Check minimum number of events None	13
5. Include endpoints None	13
6. Filter based on genotype QC (FinnGen only)	13

Summary Statistics

↥

-FinRegistry-

This endpoint is excluded (different definition than used in FinnGen).

-FinnGen-

Key figures

	All	Female	Male
Number of individuals	13	12	-
Unadjusted period prevalence (%)	0.00	0.00	-
Median age at first event (years)	34.87	34.14	-

-FinnGen-

Age distribution of first events

-FinnGen-

Year distribution of first events

-FinnGen-

Cumulative Incidence Function

Not a core endpoint, no data to show.

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.

No data available

LabWAS

↥

(ID) Name

N Cases

N Controls

-log₁₀(p)

cases

controls

unit

cases

controls

-log₁₀(p)

N cases

N controls

(3033658) Prothrombin time (PT) actual/Normal

7.11

2.73

2.4

2.7

93.3

—

(3044640) Blood type and Crossmatch panel - Blood

3.84

1.40

1.9

—

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

3.04

1.15

4.6

3.1

—

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

2.74

0.86

1.8

2.0

—

(36304419) Bacteria [Presence] in Urine

2.48

0.81

7.2

1.9

—

(3026008) Bacteria identified in Urine by Culture

2.50

0.73

4.5

3.0

—

(42870588) Differential panel, method unspecified - Blood

2.22

0.69

3.2

6.9

—

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

1.90

0.49

1.4

1.2

—

0.8

—

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

1.83

0.48

1.2

1.3

—

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

1.76

0.47

7.2

2.0

—

(21494755) Public health laboratory ask at order entry panel

0.00

0.44

0.0

1.2

—

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

0.00

0.44

0.0

2.4

—

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

0.00

0.44

0.0

1.5

—

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

1.40

0.26

3.6

4.7

u/l

22.2

32.7

—

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

1.59

0.25

2.7

4.3

—

(3022145) Colonoscopy Study observation

0.00

0.22

0.0

1.7

—

(4010399)

0.00

0.22

0.0

1.5

—

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

0.00

0.22

0.0

1.1

—

(3008230) Borrelia burgdorferi IgM Ab [Units/volume] in Serum

0.00

0.22

0.0

2.4

—

(3019060) Gas panel - Arterial blood

0.00

0.22

0.0

5.2

—

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

0.00

0.22

0.0

1.5

—

(40761535) Cells panel - Urine sediment

0.00

0.22

0.0

4.0

—

(40761511) CBC panel - Blood by Automated count

118

+∞

0.22

10.8

11.8

—

(3001019) Free T4 and TSH panel - Serum or Plasma

0.00

0.22

0.0

1.5

—

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

0.00

0.22

0.0

1.1

—

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

0.00

0.22

0.0

2.7

—

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

0.78

0.11

4.3

3.1

—

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

0.00

0.0

1.5

—

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

0.00

0.0

1.5

—

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

0.00

0.0

1.5

—

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

0.00

0.0

1.5

—

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

0.00

0.0

1.2

—

(3027450) Sjogrens syndrome-B extractable nuclear Ab [Units/volume] in Serum

0.00

0.0

1.7

—

(3018405) Lactate [Moles/volume] in Arterial blood

0.00

0.0

6.2

—

1.2

—

(3032836) C peptide [Moles/volume] in Serum or Plasma --fasting

0.00

0.0

1.0

—

0.9

—

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

0.00

0.0

1.7

—

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

0.00

0.0

1.8

—

127.0

—

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

0.00

0.0

1.0

—

(3024889) Methemoglobin/Hemoglobin.total in Venous blood

0.00

0.0

1.8

—

0.9

—

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

0.00

0.0

1.3

—

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

0.00

0.0

1.2

—

(3035941) MCH [Entitic mass]

125

+∞

0.00

18.5

18.1

29.8

30.5

1.03

125

(3020891) Body temperature

0.00

0.0

6.3

—

(3037551) Cancer Ag 125 [Units/volume] in Serum or Plasma

0.00

0.0

2.1

—

188.1

—

(3010517) Carboxyhemoglobin/Hemoglobin.total in Venous blood

0.00

0.0

1.7

—

2.2

—

(3025941) Bacteria identified in Stool by Culture

0.00

0.0

1.1

—

(3007461) Platelets [#/volume] in Blood

125

+∞

0.00

18.8

18.1

e9/l

285.4

262.9

0.95

125

(3025245) SCL-70 extractable nuclear Ab [Units/volume] in Serum by Immunoassay

0.00

0.0

1.4

—

(40768443) Skin Pathology biopsy report

0.00

0.0

1.0

—

(3002434) Lupus erythematosus deoxynucleoproteins IgG Ab [Units/volume] in Serum by Immunoassay

0.00

0.0

2.2

—

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

0.00

0.0

1.1

—

(3024731) MCV [Entitic volume]

125

+∞

0.00

18.5

18.1

90.2

91.4

0.56

125

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

0.00

0.0

1.0

—

(3010813) Leukocytes [#/volume] in Blood

125

+∞

0.00

18.7

18.1

e9/l

6.4

6.7

0.21

125

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

0.00

0.0

1.4

—

(4034850)

0.00

0.0

10.6

—

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

0.00

0.0

7.2

—

(3026361) Erythrocytes [#/volume] in Blood

125

+∞

0.00

18.6

18.2

e12/l

4.5

4.4

0.12

125

(3011960) Natriuretic peptide B [Mass/volume] in Serum or Plasma

0.00

0.0

1.4

—

35.6

—

(3000963) Hemoglobin [Mass/volume] in Blood

125

+∞

0.00

18.6

18.2

g/l

133.6

134.3

0.05

125

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

0.00

0.0

1.2

—

(3009445) Proteinase 3 Ab [Units/volume] in Serum

0.00

0.0

1.0

—

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

0.00

0.0

3.0

—

22.3

—

(3036086) Jo-1 extractable nuclear Ab [Units/volume] in Serum by Immunoassay

0.00

0.0

1.4

—

Mortality – FinRegistry

↥

This endpoint is excluded (different definition than used in FinnGen).

Relationships between endpoints

↥

Index endpoint: Q17_DIASTROFIC_DYSP – Diastrofic dysplasy

GWS hits: -

This endpoint is excluded (different definition than used in FinnGen).

NAME	Q17_DIASTROFIC_DYSP
CONTROL_EXCLUDE	Q17_CONGEN_MALFO_DEFORMAT_MUSCULOS_SYSTEM
CONTROL_PRECONDITIONS
CONTROL_CONDITIONS
SEX
INCLUDE
PRE_CONDITIONS
CONDITIONS
OUTPAT_ICD
OUTPAT_OPER
HD_MAINONLY
HD_ICD_10_ATC
HD_ICD_10	Q775
HD_ICD_9
HD_ICD_8
HD_ICD_10_EXCL
HD_ICD_9_EXCL
HD_ICD_8_EXCL
COD_MAINONLY
COD_ICD_10	Q775
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

≡ Risteys

FG R12 + FR

FinnGen R11 + FinRegistry

FinnGen R10 + FinRegistry

FinnGen R10

FinnGen R9

FinnGen R8

FinnGen R7

FinnGen R6

FinnGen R5

FinnGen R4

FinnGen R3

Diastrofic dysplasy

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)

All original rules

Similar endpoints

Case counts by codes

Upset plot

Case counts by code for Diastrofic dysplasy (Q17_DIASTROFIC_DYSP)

Summary Statistics

-FinRegistry-

-FinnGen-

Key figures

-FinnGen-

Age distribution of first events

-FinnGen-

Year distribution of first events

-FinnGen-

Cumulative Incidence Function

CodeWAS (R11)

LabWAS

Mortality – FinRegistry

Relationships between endpoints