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Standard

Eosinophil count

RIN3 · rs72699818

Strength of the evidence

1 / 4

Its strongest genetic-study result is p = 10−13, with 2 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 172,275 European ancestry individuals.

The effect Each copy of the C allele shifted the measure 0.0337 lower (95% confidence interval 0.025-0.043); p = 4 × 10−13.

How common The C allele had a frequency of about 18% in the people studied.

Where it sits Chromosome 14, band 14q32.12 — in an intron of RIN3.

How common each version is

CT
Japanese ToMMo
T 100.0%
World gnomAD
C 12.3% · T 87.7%
World 1000 Genomes
C 8.4% · T 91.6%
World TOPMed
C 11.6% · T 88.4%

By ancestry gnomAD

East Asian
T 99.8%
European (non-Finnish)
C 17.6% · T 82.4%
African / African American
C 4.7% · T 95.3%
South Asian
C 14.6% · T 85.4%
Admixed American (Latino)
C 10.2% · T 89.8%
Middle Eastern
C 15.3% · T 84.7%
Finnish
C 14.9% · T 85.1%
Ashkenazi Jewish
C 17.7% · T 82.3%

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. No Korean figure for this position yet.

What each result means

C/C Two copies of the version the research linked to Eosinophil count. 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 Eosinophil count. That is a smaller link than two copies.
T/T No copy of the version the research linked to Eosinophil count. This is the starting point the study compared everyone against.
Source

Quoting this page

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Eosinophil count (rs72699818). MyGeneLog™. https://www.mygenelog.com/variants/rs72699818

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