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Hematocrit

RABGAP1L · rs6688577

Where this position leads

Condition: Blood Cell Counts

rs6688577 Condition: Blood Cell Counts Blood Cell Counts Condition rs6688577 rs6688577 RABGAP1L

Strength of the evidence

1 / 4

Its strongest genetic-study result is p = 10−10, with 1 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 737,823 African American or Afro-Caribbean, African ancestry, European ancestry, East Asian ancestry, Hispanic or Latin American and South Asian ancestry individuals.

The effect The reported allele is T; the catalogue records no effect size ; p = 2 × 10−10.

How common The T allele had a frequency of about 38% in the people studied.

Where it sits Chromosome 1, band 1q25.1 — in an intron of RABGAP1L.

How common each version is

CT
Korean KRGDB
C 66.9% · T 33.1%
Korean Korea4K
C 67.0% · T 33.0%
Korean Korea1K
C 66.2% · T 33.8%
Japanese ToMMo
C 68.6% · T 31.4%
Vietnamese
C 79.7% · T 20.3%
World gnomAD
C 48.5% · T 51.5%
World 1000 Genomes
C 47.9% · T 52.1%
World TOPMed
C 47.0% · T 53.0%

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 rs6688577

What is rs6688577?

rs6688577 is a single position in the genome, in or near the RABGAP1L 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 rs6688577 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 rs6688577 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 rs6688577 come from?

GWAS Catalog, Cell 2020, PMID:32888493. 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 (rs6688577). MyGeneLog™. https://www.mygenelog.com/variants/rs6688577

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