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Spondylolisthesis, congenital (PheCode 754.2)

DMGDH · rs555715126

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 373 African American or Afro-Caribbean cases, 121,132 African American or Afro-Caribbean controls, 1,583 European ancestry cases, 447,927 European ancestry controls, 236 Hispanic or Latin American cases, 59,450 Hispanic or Latin American controls.

The effect Each copy of the A allele shifted the measure 3.08 lower (95% confidence interval 3.05-3.1); p = 4 × 10−11.

How common The A allele had a frequency of about 100% in the people studied.

Where it sits Chromosome 5, band 5q14.1 — in the 5′ untranslated region of DMGDH.

What each result means

A/A Two copies of the version the research linked to Spondylolisthesis, congenital (PheCode 754.2). 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 Spondylolisthesis, congenital (PheCode 754.2). That is a smaller link than two copies.
G/G No copy of the version the research linked to Spondylolisthesis, congenital (PheCode 754.2). This is the starting point the study compared everyone against.
Source

Questions about rs555715126

What is rs555715126?

rs555715126 is a single position in the genome, in or near the DMGDH gene. Published research associates it with spondylolisthesis, congenital (phecode 754.2). A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs555715126 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 rs555715126 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.

Quoting this page

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Spondylolisthesis, congenital (PheCode 754.2) (rs555715126). MyGeneLog™. https://www.mygenelog.com/variants/rs555715126

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