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Stands on its own.
Nothing else here links to this position yet — but the page above is the point: what the
research found, what each genotype means, and where it came from, in language you can
read. Links to conditions, drugs and the senses appear automatically if we write them.
Strength of the evidence
1 / 4
Its strongest genetic-study result is p = 10−12, 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 114,852 African American or Afro-Caribbean individuals, 55,783 Hispanic or Latin American individuals, 5,942 East Asian ancestry individuals, 407,288 European ancestry individuals.
The effect
Each copy of the T allele shifted the measure 0.0226 lower (95% confidence interval 0.017-0.029); p = 5 × 10−13.
How common The T allele had a frequency of about 50% in the people studied.
Where it sits Chromosome 2, band 2q33.2 — in an intron of BMPR2.
What each result means
C/CNo copy of the version the research linked to mean corpuscular hemoglobin (MCH, maximum, inv-norm transformed). This is the starting point the study compared everyone against.
C/TOne copy of the version the research linked to mean corpuscular hemoglobin (MCH, maximum, inv-norm transformed). That is a smaller link than two copies.
T/TTwo copies of the version the research linked to mean corpuscular hemoglobin (MCH, maximum, inv-norm transformed). That is the strongest link of the three results. A link in a study is not a diagnosis.
Science (New York, N.Y.) · 2024 · PMID 39024449 · open access
Questions about rs12693970
What is rs12693970?
rs12693970 is a single position in the genome, in or near the BMPR2 gene. Published research associates it with mean corpuscular hemoglobin (mch, maximum, inv-norm transformed). A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.
Does having rs12693970 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 rs12693970 come from?
GWAS Catalog, Science (New York, N.Y.) 2024, PMID:39024449. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.
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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 hemoglobin (MCH, maximum, inv-norm transformed) (rs12693970). MyGeneLog™. https://www.mygenelog.com/variants/rs12693970