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Other sideroblastic anaemias

DOID Endpoint Browser PheWeb

D3_SIDEROANAMIEAOTHER

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 — D64.3
  • Hospital discharge: ICD-9 — 2850X
  • Hospital discharge: ICD-8 — 28500
  • Cause of death: ICD-10 — D64.3
  • Cause of death: ICD-9 — 2850X
  • Cause of death: ICD-8 — 28500

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

126

4. Check minimum number of events

None

126

5. Include endpoints

None

126

6. Filter based on genotype QC (FinnGen only)

123

Control definitions (FinnGen only)

Control exclude D3_APLASTICANDOTHANAEMIA

Extra metadata

Level in the ICD hierarchy 4
First used in FinnGen datafreeze DF2
Parent code in ICD-10 D64
Name in latin Aliae anaemia sideroblasticae

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 1579 915 635
Only index persons 1006 616 390
Unadjusted period prevalence (%)
Whole population 0.02 0.03 0.02
Only index persons 0.02 0.02 0.01
Median age at first event (years)
Whole population 71.02 71.37 70.40
Only index persons 65.44 64.99 66.15

-FinnGen-

Key figures

All Female Male
Number of individuals 123 58 65
Unadjusted period prevalence (%) 0.03 0.02 0.03
Median age at first event (years) 66.95 63.84 69.72

-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

No data

Mortality – FinRegistry

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Association

Association between endpoint D3_SIDEROANAMIEAOTHER and mortality.

Females

Parameter HR [95% CI] p-value
D3_SIDEROANAMIEAOTHER 2.545 [1.95, 3.32] < 0.001
Birth year 0.986 [0.98, 1.0] 0.003

During the follow-up period (1.1.1998 — 31.12.2019), 302 out of 565 females with D3_SIDEROANAMIEAOTHER died.

Males

Parameter HR [95% CI] p-value
D3_SIDEROANAMIEAOTHER 2.558 [1.77, 3.69] < 0.001
Birth year 0.992 [0.98, 1.0] 0.096

During the follow-up period (1.1.1998 — 31.12.2019), 213 out of 380 males with D3_SIDEROANAMIEAOTHER died.

Mortality risk

Mortality risk for people of age

years, who have D3_SIDEROANAMIEAOTHER.

N-year risk Females Males
1 0.199% 0.607%
5 1.237% 3.073%
10 2.959% 8.425%
15 5.515% 15.674%
20 9.1% 26.053%

Relationships between endpoints

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Index endpoint: D3_SIDEROANAMIEAOTHER – Other sideroblastic anaemias

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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