Sensitive

Cryptic phenotype that captures Alport syndrome severity

COL4A2 · rs9521732

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 308,088 European ancestry individuals.

The effect Each copy of the A allele shifted the measure 0.008 higher (95% confidence interval 0.0053-0.0107); p = 3 × 10−8.

Where it sits Chromosome 13, band 13q34 — in an intron of COL4A2.

What each result means

A/A Two copies of the version the research linked to Cryptic phenotype that captures Alport syndrome severity. That is the strongest link of the three results. A link in a study is not a diagnosis.
A/C One copy of the version the research linked to Cryptic phenotype that captures Alport syndrome severity. That is a smaller link than two copies.
C/C No copy of the version the research linked to Cryptic phenotype that captures Alport syndrome severity. This is the starting point the study compared everyone against.
Source

Questions about rs9521732

What is rs9521732?

rs9521732 is a single position in the genome, in or near the COL4A2 gene. Published research associates it with cryptic phenotype that captures alport syndrome severity. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs9521732 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 rs9521732 come from?

GWAS Catalog, Nature communications 2022, PMID:35760791. 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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Cryptic phenotype that captures Alport syndrome severity (rs9521732). MyGeneLog™. https://www.mygenelog.com/variants/rs9521732

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