Gene Knowledge Graph
UTC
Standard

Mean corpuscular volume

near HLA-C · rs9264579

Where this position leads

Condition: Blood Cell Counts

rs9264579 Condition: Blood Cell Counts Blood Cell Counts Condition rs9264579 rs9264579 near HLA-C

Strength of the evidence

1 / 4

Its strongest genetic-study result is p = 10−17, 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 129,832 East Asian ancestry individuals.

The effect Each copy of the A allele shifted the measure 0.0325 higher (95% confidence interval 0.025-0.04); p = 5 × 10−18.

How common The A allele had a frequency of about 34% in the people studied.

Where it sits Chromosome 6, band 6p21.33 — between genes, 0.8 kb from HLA-C.

How common each version is

AG
Korean KRGDB
A 32.7% · G 67.3%
Korean Korea4K
A 33.9% · G 66.1%
Japanese ToMMo
A 33.3% · G 66.7%
Vietnamese
A 50.0% · G 50.0%
World gnomAD
A 49.2% · G 50.8%
World 1000 Genomes
A 46.7% · G 53.3%
World TOPMed
A 50.0% · G 50.0%

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

A/A Two copies of the version the research linked to Mean corpuscular volume. 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 Mean corpuscular volume. That is a smaller link than two copies.
G/G No copy of the version the research linked to Mean corpuscular volume. This is the starting point the study compared everyone against.
Source
A cross-population atlas of genetic associations for 220 human phenotypes
Sakaue S, Kanai M, Tanigawa Y, Karjalainen J, Kurki M, Koshiba S, Narita A, Konuma T, Yamamoto K, Akiyama M, Ishigaki K, Suzuki A
and 34 more — show all
Suzuki K, Obara W, Yamaji K, Takahashi K, Asai S, Takahashi Y, Suzuki T, Shinozaki N, Yamaguchi H, Minami S, Murayama S, Yoshimori K, Nagayama S, Obata D, Higashiyama M, Masumoto A, Koretsune Y, Ito K, Terao C, Yamauchi T, Komuro I, Kadowaki T, Tamiya G, Yamamoto M, Nakamura Y, Kubo M, Murakami Y, Yamamoto K, Kamatani Y, Palotie A, Rivas MA, Daly MJ, Matsuda K, Okada Y
FinnGen
Nature genetics · 2021 · PMID 34594039

Questions about rs9264579

What is rs9264579?

rs9264579 is a single position in the genome, in or near the near HLA-C gene. Published research associates it with mean corpuscular volume. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs9264579 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 rs9264579 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 rs9264579 come from?

GWAS Catalog, Nature genetics 2021, PMID:34594039. 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

Mean corpuscular volume (rs9264579). MyGeneLog™. https://www.mygenelog.com/variants/rs9264579

← See all variants