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RBC levels of Diphosphate

SYN3 · rs9619316

Strength of the evidence

1 / 4

Its strongest genetic-study result is p = 10−8, 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 243 individuals.

The effect Each copy of the C allele shifted the measure 1.31 lower (95% confidence interval 0.86-1.76); p = 2 × 10−8.

How common The C allele had a frequency of about 97% in the people studied.

Where it sits Chromosome 22, band 22q12.3 — in an intron of SYN3.

What each result means

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

Questions about rs9619316

What is rs9619316?

rs9619316 is a single position in the genome, in or near the SYN3 gene. Published research associates it with rbc levels of diphosphate. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs9619316 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 rs9619316 come from?

GWAS Catalog, The Journal of biological chemistry 2022, PMID:36395887. 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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RBC levels of Diphosphate (rs9619316). MyGeneLog™. https://www.mygenelog.com/variants/rs9619316

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