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Hematocrit

RREB1 · rs75757892

Where this position leads

Condition: Blood Cell Counts

rs75757892 Condition: Blood Cell Counts Blood Cell Counts Condition rs75757892 rs75757892 RREB1

Strength of the evidence

2 / 4

Its strongest genetic-study result is p = 10−41, 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 173,039 European ancestry individuals.

The effect Each copy of the T allele shifted the measure 0.0344 higher (95% confidence interval 0.025-0.043); p = 6 × 10−14.

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

Where it sits Chromosome 6, band 6p24.3 — in an intron of RREB1.

How common each version is

CT
Korean KRGDB
C 97.1% · T 2.9%
Korean Korea4K
C 96.9% · T 3.1%
Korean Korea1K
C 97.3% · T 2.7%
Japanese ToMMo
C 98.6% · T 1.4%
Vietnamese
C 93.5% · T 6.5%
World gnomAD
C 88.5% · T 11.5%
World 1000 Genomes
C 93.4% · T 6.6%
World TOPMed
C 89.8% · T 10.2%

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.

What each result means

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

Questions about rs75757892

What is rs75757892?

rs75757892 is a single position in the genome, in or near the RREB1 gene. Published research associates it with hematocrit. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs75757892 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 rs75757892 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 rs75757892 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

Licensed CC BY-NC 4.0: free to read, share and adapt for non-commercial use, naming MyGeneLog™ and linking the exact page. Commercial use, including training or serving a commercial AI system, needs a licence — https://www.mygenelog.com/license

Hematocrit (rs75757892). MyGeneLog™. https://www.mygenelog.com/variants/rs75757892

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