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Mean corpuscular hemoglobin concentration

VPS13A · rs12343797

What the study found

Who was studied 642,173 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 A; the catalogue records no effect size ; p = 1 × 10−15.

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

Where it sits Chromosome 9, band 9q21.2 — in the 3′ untranslated region of VPS13A.

What ClinVar records

Classification Benign for VPS13A-related neurodegenerative disease, Gastric cancer, Uterine carcinosarcoma, Thyroid cancer, nonmedullary, 1, Malignant tumor of esophagus and 1 more; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 4 submitters), last evaluated 2018-07-17. ClinVar record 367437 NM_033305.3(VPS13A):c.*222G>A

What this is ClinVar's aggregate record for this position (as of its 2026-10-12 release), not a result about you. A classification describes the variant against the condition named, as laboratories submitted it. Whether a person carries this variant, and what that would mean for them, is a question for a clinical test and a genetic counsellor.

What each result means

A/A Two copies of the version the research linked to Mean corpuscular hemoglobin concentration. 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 hemoglobin concentration. That is a smaller link than two copies.
G/G No copy of the version the research linked to Mean corpuscular hemoglobin concentration. This is the starting point the study compared everyone against.
Source

Questions about rs12343797

What is rs12343797?

rs12343797 is a single position in the genome, in or near the VPS13A gene. Published research associates it with mean corpuscular hemoglobin concentration. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs12343797 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 rs12343797 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

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Mean corpuscular hemoglobin concentration (rs12343797). MyGeneLog™. https://www.mygenelog.com/variants/rs12343797

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