Risteys · E4_ALBINISM

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 — E70.3 Hospital discharge: ICD-8 — 2708[1-2] Cause of death: ICD-10 — E70.3 Cause of death: ICD-8 — 2708[1-2] 2 out of 7 registries used, show all original rules.	23
4. Check minimum number of events None	23
5. Include endpoints None	23
6. Filter based on genotype QC (FinnGen only)	23

Summary Statistics

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-FinRegistry-

Key figures

	All	Female	Male
Number of individuals
Whole population	266	122	143
Only index persons	211	96	115
Unadjusted period prevalence (%)
Whole population	0.00	0.00	0.00
Only index persons	0.00	0.00	0.00
Median age at first event (years)
Whole population	10.91	13.02	8.91
Only index persons	19.21	27.28	12.47

-FinnGen-

Key figures

	All	Female	Male
Number of individuals	23	15	8
Unadjusted period prevalence (%)	0.00	0.01	0.00
Median age at first event (years)	28.11	29.48	25.54

-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

(3044640) Blood type and Crossmatch panel - Blood

7.04

4.71

2.1

2.2

—

(3016502) Oxygen saturation in Arterial blood

7.64

2.89

2.8

10.1

97.7

97.0

—

(3002173) Hemoglobin [Mass/volume] in Arterial blood

7.64

2.89

2.8

10.1

g/l

127.5

122.1

—

(3027801) Oxygen [Partial pressure] in Arterial blood

6.93

2.73

2.8

9.5

kpa

16.6

13.4

—

(3027946) Carbon dioxide [Partial pressure] in Arterial blood

6.93

2.73

2.8

9.5

kpa

4.9

—

(3013512) EKG study

4.60

2.67

2.9

2.7

—

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

3.85

2.56

4.1

4.2

—

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

7.59

2.50

28.8

14.0

mmol/l

1.3

1.0

—

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

4.55

2.27

3.6

3.1

—

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

3.68

2.17

2.7

2.1

—

(42870588) Differential panel, method unspecified - Blood

3.31

1.99

11.5

4.8

—

(3002256) Pathology report gross observation

3.91

1.99

1.3

1.1

—

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

4.59

1.81

2.6

1.9

—

(40760892) CBC W Ordered Manual Differential panel - Blood

3.04

1.64

11.7

5.8

—

(3000492) Spirometry study

3.95

1.61

1.6

1.3

—

(3018010) Neutrophils/100 leukocytes in Blood

2.75

1.57

13.6

4.6

55.7

57.0

0.11

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

3.45

1.44

3.2

2.8

—

(40768797) Stomach Pathology biopsy report

3.45

1.44

1.2

—

(3022096) Basophils/100 leukocytes in Blood

2.64

1.38

15.3

4.7

0.7

0.6

0.14

(3006504) Eosinophils/100 leukocytes in Blood

2.46

1.33

15.0

4.7

2.5

2.6

0.08

(3019069) Monocytes/100 leukocytes in Blood

2.41

1.32

15.4

5.0

8.2

7.8

0.22

(3023368) Bacteria identified in Blood by Culture

2.90

1.26

4.6

3.4

—

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

2.51

1.19

8.8

3.1

—

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

2.35

1.08

6.6

3.6

—

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

2.35

1.08

2.3

1.4

nmol/l

29.2

24.5

—

(40758558) Short blood count panel - Blood

2.18

0.97

24.5

5.2

—

(36304419) Bacteria [Presence] in Urine

2.13

0.95

6.4

2.8

—

(3037467) Urinalysis macro (dipstick) panel - Urine

120

2.09

0.89

6.1

4.2

—

(3033658) Prothrombin time (PT) actual/Normal

2.07

0.81

12.3

5.1

96.3

97.4

—

(3018677) aPTT in Platelet poor plasma by Coagulation assay

2.27

0.78

3.8

3.9

32.8

32.1

—

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

1.90

0.75

6.7

2.5

mg/l

2.5

2.7

—

(3002582) Erythrocytes [#/volume] in Urine

1.82

0.69

6.1

2.7

e6/l

11.9

12.4

—

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

1.74

0.64

1.1

1.9

—

(40768804) Tissue Pathology biopsy report

1.87

0.63

2.3

1.6

—

(1761868) Lipid panel - Serum or Plasma

1.76

0.53

1.7

1.9

—

(3015736) pH of Urine

1.72

0.50

5.5

3.1

—

(3023511) Choriogonadotropin [Units/volume] in Urine

0.00

0.42

0.0

1.3

—

(3044889) 12 lead EKG panel

104

1.57

0.38

5.1

2.8

—

(3019832) Treponema pallidum Ab [Presence] in Serum

1.27

0.22

1.2

1.7

—

(1002224) Polysomnography panel

0.00

0.22

0.0

1.0

—

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

0.00

0.22

0.0

1.1

—

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

0.00

0.22

0.0

1.1

—

(3020321) Streptococcus agalactiae [Presence] in Vaginal fluid by Organism specific culture

0.00

0.22

0.0

1.7

—

(21492888) Glucose tolerance 2 hours gestational panel - Serum or Plasma

0.00

0.21

0.0

1.7

—

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

1.30

0.21

10.1

2.7

u/l

27.7

27.3

—

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

0.00

0.21

0.0

1.2

—

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

1.22

0.19

1.3

1.7

—

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

1.15

0.10

2.5

1.8

—

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

171

1.24

0.09

3.7

4.4

—

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

130

1.20

0.08

4.4

4.3

pmol/l

14.5

14.6

0.02

118

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

1.15

0.04

4.5

2.7

ug/l

75.7

55.7

—

(3019550) Sodium [Moles/volume] in Serum or Plasma

175

1.13

0.00

39.1

10.3

mmol/l

139.1

139.8

0.77

166

(3023103) Potassium [Moles/volume] in Serum or Plasma

178

1.05

0.00

39.3

10.1

mmol/l

3.8

3.9

0.93

169

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

0.00

0.0

1.0

—

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

0.00

0.0

1.0

—

(3039162) Centromere protein B Ab [Units/volume] in Serum

0.00

0.0

1.2

—

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

0.00

0.0

9.0

—

0.6

—

(1002102) Choriogonadotropin.intact+Beta subunit [Mass/volume] in Serum or Plasma

0.00

0.0

1.4

—

(21492711) Cytomegalovirus IgG Ab avidity [Presence] in Serum or Plasma by Immunoassay

0.00

0.0

1.8

—

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

0.00

0.0

1.0

—

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

0.00

0.0

1.0

—

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

0.00

0.0

1.0

—

(3014148) Varicella zoster virus Ab [Titer] in Serum

0.00

0.0

1.0

—

(3002385) Erythrocyte distribution width [Ratio]

163

0.94

0.00

29.9

13.1

13.2

13.5

0.47

158

(3013527) Hepatitis B virus core IgM Ab [Presence] in Serum

0.00

0.0

1.3

—

(36032419) SARS-CoV-2 (COVID-19) Ag [Presence] in Upper respiratory specimen by Immunoassay

0.00

0.0

1.8

—

(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

0.00

0.0

1.4

—

(3047007) Chlamydophila sp Ab [Presence] in Serum

0.00

0.0

1.0

—

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

1.02

0.00

9.3

3.2

—

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

0.00

0.0

1.1

—

(3023939) Sjogrens syndrome-A extractable nuclear Ab [Units/volume] in Serum

0.00

0.0

1.1

—

(3041096) Erythrocytes [Presence] in Urine by Automated

0.95

0.00

6.0

2.6

—

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

0.89

0.00

2.3

2.0

—

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

0.00

0.0

1.0

—

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

0.00

0.0

1.0

—

(3012413) Glucose [Moles/volume] in Serum or Plasma --2 hours post meal

0.00

0.0

1.6

—

Mortality – FinRegistry

↥

Association

Association between endpoint E4_ALBINISM and mortality.

Females

No data

Males

No data

Mortality risk

Mortality risk for people of age

years, who have E4_ALBINISM.

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

Relationships between endpoints

↥

Index endpoint: E4_ALBINISM – Albinism

GWS hits: -

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

NAME	E4_ALBINISM
CONTROL_EXCLUDE	E4_METABOLIA
CONTROL_PRECONDITIONS
CONTROL_CONDITIONS
SEX
INCLUDE
PRE_CONDITIONS
CONDITIONS
OUTPAT_ICD
OUTPAT_OPER
HD_MAINONLY
HD_ICD_10_ATC
HD_ICD_10	E703
HD_ICD_9	$!$	The FinnGen clinical team has checked and no code can be used for this rule.
HD_ICD_8	2708[1-2]
HD_ICD_10_EXCL
HD_ICD_9_EXCL
HD_ICD_8_EXCL
COD_MAINONLY
COD_ICD_10	E703
COD_ICD_9	$!$	The FinnGen clinical team has checked and no code can be used for this rule.
COD_ICD_8	2708[1-2]
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

Albinism

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