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Vertebral, anorectal, cardiavascular, thracheoesophagial, renal and limb anomaly

Endpoint Browser PheWeb

Q17_VACTREL

Endpoint definition

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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:

  • Hospital discharge: ICD-10 — Q8726|Q76|Q675|Q42|Q43[5-9]|Q20|Q21|Q22|Q23|Q24|Q25|Q26[1-4]|Q39|Q6[0-4]|Q69[0-1]|Q70[014]|Q71
  • Hospital discharge: excluded ICD-10 — Q20.6, Q21.4, Q25.0, Q25.42, Q39.4, Q39.50, Q39.58, Q39.6
  • Cause of death: ICD-10 — Q8726|Q76|Q675|Q42|Q43[5-9]|Q20|Q21|Q22|Q23|Q24|Q25|Q26[1-4]|Q39|Q6[0-4]|Q69[0-1]|Q70[014]|Q71

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

6482

4. Check minimum number of events

None

6482

5. Include endpoints

None

6482

6. Filter based on genotype QC (FinnGen only)

6176

Control definitions (FinnGen only)

Controls for this endpoint are individuals that are not cases.

Extra metadata

Level in the ICD hierarchy C
First used in FinnGen datafreeze DF6v3

Similar endpoints

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List of similar endpoints to Vertebral, anorectal, cardiavascular, thracheoesophagial, renal and limb anomaly based on the number of shared cases.

Venn diagram with an highlighted set fully inside another set Similar with more cases:

Venn diagram with a set fully inside an highlighted set Similar with less cases:

Case counts by codes

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FinnGen case counts by registry codes:

generic upset plot

Upset plot

Full data table

Summary Statistics

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-FinRegistry-

Key figures

All Female Male
Number of individuals
Whole population 82336 40259 41864
Only index persons 60093 29667 30426
Unadjusted period prevalence (%)
Whole population 1.16 1.15 1.17
Only index persons 1.13 1.09 1.16
Median age at first event (years)
Whole population 4.73 4.92 4.32
Only index persons 13.65 14.23 13.08

-FinnGen-

Key figures

All Female Male
Number of individuals 6176 3252 2924
Unadjusted period prevalence (%) 1.37 1.28 1.47
Median age at first event (years) 43.60 39.58 48.08

-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

Mortality – FinRegistry

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Association

Association between endpoint Q17_VACTREL and mortality.

Females

Parameter HR [95% CI] p-value
Q17_VACTREL 1.843 [1.61, 2.11] < 0.001
Birth year 0.996 [0.99, 1.0] 0.35

During the follow-up period (1.1.1998 — 31.12.2019), 2154 out of 35509 females with Q17_VACTREL died.

Males

Parameter HR [95% CI] p-value
Q17_VACTREL 1.799 [1.59, 2.04] < 0.001
Birth year 0.985 [0.98, 0.99] 0.002

During the follow-up period (1.1.1998 — 31.12.2019), 2437 out of 36505 males with Q17_VACTREL died.

Mortality risk

Mortality risk for people of age

years, who have Q17_VACTREL.

N-year risk Females Males
1 0.144% 0.293%
5 0.99% 1.807%
10 2.513% 4.776%
15 5.101% 8.982%
20 9.001% 15.397%

Relationships between endpoints

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Index endpoint: Q17_VACTREL – Vertebral, anorectal, cardiavascular, thracheoesophagial, renal and limb anomaly

GWS hits: 3

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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