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Standard

B-type natriuretic peptide to N-terminal pro B-type natriuretic peptide ratio

POC1B · rs11105298

Strength of the evidence

3 / 4

Its strongest genetic-study result is p = 10−88, with 5 associations in the GWAS Catalog.

How this is scored

4: ClinVar disease-causing, reviewed by an expert panel or a guideline (3–4 stars). 3: ClinVar, several labs agreeing (2 stars), or a genetic study at p ≤ 10−50. 2: ClinVar from one lab (1 star), or p ≤ 10−20. 1: ClinVar submitted without criteria (0 stars), or genome-wide significance (p ≤ 5×10−8). The higher of the two counts. It says how solid the evidence is, not whether it matters for a particular person.

What the study found

Who was studied 4,932 Finnish ancestry individuals; replicated in 1,373 Finnish ancestry individuals.

The effect Each copy of the C allele shifted the measure 0.21 Unit higher (95% confidence interval 0.17-0.25); p = 7 × 10−23.

How common The C allele had a frequency of about 79% in the people studied.

Where it sits Chromosome 12, band 12q21.33 — in an intron of POC1B.

How common each version is

CT
Korean KRGDB
C 11.6% · T 88.4%
Korean Korea4K
C 12.3% · T 87.7%
Korean Korea1K
C 12.3% · T 87.7%
Japanese ToMMo
C 10.1% · T 89.9%
Vietnamese
C 20.4% · T 79.6%
World gnomAD
C 20.1% · T 79.9%
World 1000 Genomes
C 20.4% · T 79.6%
World TOPMed
C 18.8% · T 81.2%

By ancestry gnomAD

East Asian
C 18.0% · T 82.0%
European (non-Finnish)
C 24.1% · T 75.9%
African / African American
C 11.0% · T 89.0%
South Asian
C 37.8% · T 62.2%
Admixed American (Latino)
C 18.6% · T 81.4%
Middle Eastern
C 26.2% · T 73.8%
Finnish
C 22.4% · T 77.6%
Ashkenazi Jewish
C 27.6% · T 72.5%

The share of all copies of this position that are each version. Source: the population studies published in dbSNP (US NCBI); each row names its study. The ancestry rows are gnomAD's own groups (via Ensembl), as the survey defines them, not races.

What each result means

C/C Two copies of the version the research linked to B-type natriuretic peptide to N-terminal pro B-type natriuretic peptide ratio. That is the strongest link of the three results. A link in a study is not a diagnosis.
C/T One copy of the version the research linked to B-type natriuretic peptide to N-terminal pro B-type natriuretic peptide ratio. That is a smaller link than two copies.
T/T No copy of the version the research linked to B-type natriuretic peptide to N-terminal pro B-type natriuretic peptide ratio. This is the starting point the study compared everyone against.
Source

Quoting this page

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B-type natriuretic peptide to N-terminal pro B-type natriuretic peptide ratio (rs11105298). MyGeneLog™. https://www.mygenelog.com/variants/rs11105298

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