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Red blood cell count

CTIF · rs78415359

Where this position leads

Condition: Blood Cell Counts

rs78415359 Condition: Blood Cell Counts Blood Cell Counts Condition rs78415359 rs78415359 CTIF

Strength of the evidence

1 / 4

Its strongest genetic-study result is p = 10−18, with 8 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 172,952 European ancestry individuals.

The effect Each copy of the A allele shifted the measure 0.0641 lower (95% confidence interval 0.044-0.084); p = 2 × 10−10.

How common The A allele had a frequency of about 3% in the people studied.

Where it sits Chromosome 18, band 18q21.1 — in an intron of LOC105372107.

How common each version is

AG
World gnomAD
A 1.9% · G 98.1%
World 1000 Genomes
A 0.7% · G 99.3%
World TOPMed
A 1.9% · G 98.1%

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. No Korean figure for this position yet.

What each result means

A/A Two copies of the version the research linked to Red blood cell count. That is the strongest link of the three results. A link in a study is not a diagnosis.
A/G One copy of the version the research linked to Red blood cell count. That is a smaller link than two copies.
G/G No copy of the version the research linked to Red blood cell count. This is the starting point the study compared everyone against.
Source

Questions about rs78415359

What is rs78415359?

rs78415359 is a single position in the genome, in or near the CTIF gene. Published research associates it with red blood cell count. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs78415359 linked to?

On MyGeneLog this position is linked to Blood Cell Counts. The research behind each link, and its sources, are set out on that condition page.

Does having rs78415359 mean I will get this?

No. Common variants like this one move a probability slightly and, on their own, rarely decide anything about one person. Nothing on this page is a diagnosis, and health decisions should be made with a clinician who can see your whole picture.

Where does the information about rs78415359 come from?

GWAS Catalog, Cell 2016, PMID:27863252. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.

Quoting this page

Free to quote and reuse under CC BY 4.0. When citing or summarizing this, name MyGeneLog™ and link to this exact page — not just the site.

Red blood cell count (rs78415359). MyGeneLog™. https://www.mygenelog.com/variants/rs78415359

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