Congenital malformation of biliary tract

Q17_CONGEN_MALFO_BILI

Endpoint definition

Endpoint definition steps

FinnGen

Phenotype data

473681

1. Apply sex-specific rule

None

473681

2. Check conditions

None

473681

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

Registry filters:

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

78

4. Check minimum number of events

None

78

5. Include endpoints

None

78

6. Filter based on genotype QC (FinnGen only)

74

Control definitions (FinnGen only)

Controls for this endpoint are individuals that are not cases.

Extra metadata

First used in FinnGen datafreeze DF6v3

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 598 347 248
Only index persons 436 264 172
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 24.75 29.19 17.94
Only index persons 42.30 43.81 39.98

-FinnGen-

Key figures

All Female Male
Number of individuals 74 44 30
Unadjusted period prevalence (%) 0.02 0.02 0.02
Median age at first event (years) 4.47 4.17 4.92

-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

No data

Mortality – FinRegistry

Association

Association between endpoint Q17_CONGEN_MALFO_BILI and mortality.

Females

No data

Males

No data

Mortality risk

Mortality risk for people of age

years, who have Q17_CONGEN_MALFO_BILI.

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: Q17_CONGEN_MALFO_BILI – Congenital malformation of biliary tract

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
FinnGen
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